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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TFDP1_chr13_113579753_113646473	113624777	TCTCAGGG others(132): Show TCTCAGGGTATCTCTCACATGTCCTCAGGTGTTTCTCAGGTGTCTCTCAC GTGTCCTCAGGTGTTTCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCT CAGGTGTCTCTCACGTGTCCTCCGGTGTCTCTCACTTGTC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	348	0.0029	-139	c.186 others(17): Show c.186+1498_186+1636del		TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129088588	GGGGTGTC others(132): Show GGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCATG ACCGGGATGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCT ATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCCTGACC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	94	0.0106	-139	c.144 others(19): Show c.1444-4025_1444-3887del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TMEM144_chr4_158205486_158260416	158256946	ATATATAT others(132): Show ATATATATTATATATAGTATTATATATTATATATAGTATTATATATATTA TATATAGTATTATATATTATATATAGTATTATATATATTATATATAGTAT TATATATTATATATAGTATTATATATATTATATATAGTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0072 a0001c0001t0046g0072	1	274	0.0037	-139	c.34 others(11): Show c.3420_*3558del		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1531		chr4	TogoVar
TMEM144_chr4_158205486_158260416	158257013	TATATATA others(132): Show TATATATAGTATTATATATATTATATATAGTATTATATATTATATATAGT ATTATATATATTATATATAGTATTATATATTATATATAGTATTATATATA TTATATATAGTATTATATATTATATATAGTATTATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0038 a0001c0001t0037g0038	1	274	0.0037	-139	c.34 others(11): Show c.3487_*3625del		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1598		chr4	TogoVar
TMEM163_chr2_134450759_134724000	134609612	AAGGAGGA others(132): Show AAGGAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCC GAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGTACTGGTG AAAAGGAGGACAGACCCCGAGAACTGTACTGGTGAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	222	0.0045	-139	c.323 others(19): Show c.323-57660_323-57522del		TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7						chr2	TogoVar
ULK4_chr3_41241599_41967103	41306110	CCCCGTCC others(132): Show CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCAGCCCCCCGCCAGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCCGCCCG GGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0062 a0002c0003t0001g0062	1	72	0.0139	-139	c.367 others(21): Show c.3679-56675_3679-56537del		ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36						chr3	TogoVar
VPS53_chr17_503668_719839	658117	TACATCCC others(132): Show TACATCCCACTAAAGTGAGAAACTCGGCAGGGAGTTCGTGGATAGTTACA TCCCACTAAAGTGAGAAACTCAGCAGGGAGTTCGTGGATAGATACATCCC ATTGAAGTGAGACACTCGGCCGTGAGTTCGTGGATAGATA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	232	0.0043	-139	c.373 others(17): Show c.373-2303_373-2165del		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	5/21						chr17	TogoVar
WDR7_chr18_56646359_57034792	57024553	GAGCTATG others(132): Show GAGCTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATTCTCA GGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03195.hp2 HG02602.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0028 a0001c0001t0020 a0001c0002t0028	a0001c0001t0020g0140 a0001c0002t0028g0006 a0001c0001t0020g0140 a0001c0002t0028g0006	2	144	0.0139	-139	c.427 others(19): Show c.4270-2449_4270-2311del		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr18	TogoVar
WDR7_chr18_56646359_57034792	57024692	AACTATGA others(132): Show AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0122 a0001c0001t0009g0122	1	144	0.0069	-139	c.427 others(19): Show c.4270-2311_4270-2173del		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27						chr18	TogoVar
ZDHHC4_chr7_6572454_6594374	6577111	CATAAAAT others(132): Show CATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA ATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATA AATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG03471.hp2 HG03688.hp2 HG02630.hp2 HG03471.hp2 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0001	3	408	0.0074	-139	c.-54 others(9): Show c.-549_-411del		ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding					342		chr7	TogoVar
ZNF169_chr9_94254298_94306829	94270850	TAAATATA others(132): Show TAAATATATATAATAATATATATATTATATTATATAAATATATATAATAA TATATATATTATATTATATTATATATAAATAATATATAATATATTATATA AATATATAAATAATATATTATATATTATATAAATATACAA	T T	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0160 a0002c0002t0004g0160	1	382	0.0026	-139	c.-55 others(17): Show c.-55-7906_-55-7768del		ZNF169	ENSG00000175787.17	transcript	ENST00000395395.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF253_chr19_19860882_19899674	19885251	CTTTCTTT others(132): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp1 HG02622.hp1 HG02895.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0258 a0001c0004t0006g0262 a0001c0004t0006g0258 a0001c0004t0006g0262	2	370	0.0054	-139	c.226 others(17): Show c.226+5121_226+5259del		ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACAP3_chr1_1287391_1312930	1297275	GGTGGCAC others(131): Show GGTGGCACGTGTGTGTGTGCACAGGCGCGGGGCAGGGGCCATCCCCGGTG GCACGTGTGTGTGTGCACGGGCTTGGGGCAGGGGCCATCCCCGGTGGCAC GTGTGTGTGTGCACAGGCACGGGGCAGGGGCCATCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	295	0.0034	-138	c.112 others(17): Show c.1128+409_1128+546del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding	14/23						chr1	TogoVar
ADARB2_chr10_1172313_1742525	1238051	CTCCCGGT others(131): Show CTCCCGGTGTTTACTCCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCC GGTGTTTACTCCCCCCTCCCTCCCGGTGTTTACTCCCCTCTCCCTCCCGG TGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0068 a0002c0002t0048g0068	1	106	0.0094	-138	c.136 others(19): Show c.1361+3942_1361+4079del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AGMO_chr7_15195317_15567015	15322562	ATAAATAT others(131): Show ATAAATATATATAAATATATATAAATATATAAATATATATAAATATATAT AAATATATAAATATATATAAATATATATAAATATATAAATATATATATAA ATATATATAAATATATGTATATATAAATATATGAATATG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp2 HG02622.hp2 others(4): Show HG01255.hp1 HG02280.hp2 HG02622.hp2 HG03041.hp2 HG03139.hp2 NA19240.hp1 NA19240.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0003c0006 others(2): Show a0001c0001 a0001c0003 a0003c0006 a0003c0009 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0003c0006t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0003c0006t0001 a0003c0006t0002 a0003c0009t0001 a0004c0008t0001	a0001c0001t0001g0206 a0001c0003t0001g0189 a0003c0006t0001g0181 others(4): Show a0001c0001t0001g0206 a0001c0003t0001g0189 a0003c0006t0001g0181 a0003c0006t0001g0187 a0003c0006t0002g0033 a0003c0009t0001g0004 a0004c0008t0001g0228	7	236	0.0297	-138	c.126 others(21): Show c.1263+42814_1263+42951del		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12						chr7	TogoVar
ALOXE3_chr17_8090900_8123514	8107860	AGAAAGAA others(131): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0343 a0001c0001t0005g0343	1	422	0.0024	-138	c.168 others(17): Show c.1684+470_1684+607del		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15						chr17	TogoVar
ANO9_chr11_412938_447011	421382	ACACACAC others(131): Show ACACACACACAGGGGAGGCCACAGGCTCCCAGATGAACCGCACCCACACG TGGGCGCGCGCACACACACACACACCCCCACACAGGGGAGGCCACAGGCT CCCAGACGAACCGCACCTGCACGTGGGCGCACACACACC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0260 a0008c0015t0001g0260	1	286	0.0035	-138	c.133 others(17): Show c.1335-322_1335-185del		ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	15/22						chr11	TogoVar
ARHGEF10_chr8_1818926_1963641	1919858	ATGATGGA others(131): Show ATGATGGAGCTGCTCTGTGGGTGATGAGCTGTTCTGTCAGTGATGGAGCT GTTCTGTGGATGATGGAGCTGTTCTATGGGTGATGGAGCTGTTCTATGGG TGATGGAGCTGTTCTGTGGGTGATGAGCTGTTCTGTCAG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp2 HG02683.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0165 a0001c0002t0003g0166 a0001c0001t0004g0165 a0001c0002t0003g0166	2	363	0.0055	-138	c.214 others(19): Show c.2144-3094_2144-2957del		ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF18_chr19_7343937_7477478	7362023	GAGAAGGA others(131): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02559.hp2 HG02735.hp1 others(1): Show HG01361.hp2 HG02559.hp2 HG02735.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0048 others(1): Show a0001c0001 a0001c0002 a0001c0048 a0003c0003	a0001c0001t0002 a0001c0002t0036 a0001c0048t0001 others(1): Show a0001c0001t0002 a0001c0002t0036 a0001c0048t0001 a0003c0003t0001	a0001c0001t0002g0188 a0001c0002t0036g0015 a0001c0048t0001g0266 others(1): Show a0001c0001t0002g0188 a0001c0002t0036g0015 a0001c0048t0001g0266 a0003c0003t0001g0190	4	298	0.0134	-138	c.-11 others(17): Show c.-110-746_-110-609del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28					INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF18_chr19_7343937_7477478	7367773	ACACATAT others(131): Show ACACATATATATATTTTATATATATATACACATATATATATTTTATATAT ATATACACATATATATATTTTATATATATATATACACATATATATTTTTA TATATATATATTTTATATATATTTTTTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0017 a0017	a0017c0051 a0017c0051	a0017c0051t0006 a0017c0051t0006	a0017c0051t0006g0256 a0017c0051t0006g0256	1	298	0.0034	-138	c.15+ others(15): Show c.15+4869_16-4901del		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	2/28						chr19	TogoVar
ARHGEF7_chr13_111110310_111310732	111221213	ATGTCTAT others(131): Show ATGTCTATATATATCTATATAGATATATATGTCTATATATATCTATATAG ATATATATGTCTATATATATCTATATAGATATATATGTCTATATATATCT ATATATAGATATATATGTCTATATATATCTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02572.hp1 others(5): Show HG01891.hp2 HG02145.hp1 HG02572.hp1 NA18939.hp2 NA18986.hp2 NA19009.hp1 NA19056.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0022	a0001c0001t0002g0029 a0001c0001t0002g0156 a0001c0001t0003g0107 others(5): Show a0001c0001t0002g0029 a0001c0001t0002g0156 a0001c0001t0003g0107 a0001c0001t0003g0136 a0001c0001t0003g0215 a0001c0001t0004g0045 a0001c0004t0022g0208 a0001c0004t0022g0209	8	274	0.0292	-138	c.670 others(17): Show c.670+3335_670+3472del		ARHGEF7	ENSG00000102606.20	transcript	ENST00000646102.2	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr13	TogoVar
ASB5_chr4_176208673_176274222	176219437	TATATATT others(131): Show TATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATA TATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATA TATATATGTATGATATATAAATATGTATATATTTGTATG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	410	0.0024	-138	c.670 others(17): Show c.670+1580_670+1717del		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASTN1_chr1_176856067_177169712	177149615	TATATATA others(131): Show TATATATACACTGTATATATATAGTAAATATATATACACTGTATATATAT AGTAAATATATATACACTGTATATACATAGTAAATATATATACACTGTAT ATACATAGTAAATATATATACACTGTATATACATAGTAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	112	0.0089	-138	c.283 others(19): Show c.283+14641_283+14778del		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22						chr1	TogoVar
ATP9B_chr18_79064394_79383283	79374265	GAGCCCCG others(131): Show GAGCCCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTGAGC CCCGTCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTGAGCCCCG TCGGTCACTGGCTGGCCGGTCCCCTGACAGGAGGCGCTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02809.hp1 others(2): Show HG02572.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0006 a0001c0014t0006 a0001c0011t0006 a0001c0014t0006	a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 others(2): Show a0001c0011t0006g0105 a0001c0011t0006g0106 a0001c0011t0006g0107 a0001c0014t0006g0017 a0001c0014t0006g0093	5	298	0.0168	-138	c.327 others(17): Show c.3274+302_3274+439del		ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	28/29					INFO_REALIGN_3_PRIME	chr18	TogoVar
ATXN2_chr12_111447214_111604315	111595797	TGCCTGTA others(131): Show TGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGCTGGCGAATCACTTGAG GTCAGGAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTC TACTAAAAATACAAAAATTGGCCAGGGGCAGTAGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show HG01168.hp2 HG01169.hp2 HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02572.hp1 HG02818.hp1 HG02886.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 others(9): Show a0003c0004t0003g0094 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0103 a0003c0004t0003g0104 a0003c0004t0003g0105	12	298	0.0403	-138	c.251 others(17): Show c.251+2849_251+2986del		ATXN2	ENSG00000204842.18	transcript	ENST00000673436.1	protein_coding	1/24						chr12	TogoVar
B3GALT1_chr2_167288001_167879045	167875976	TATATATA others(131): Show TATATATACACGTATATATATATATACGTATATATATATATACGTATATA TATATATACGTATATATATATATATACGTATATATATATATGTATATATA TATATACGTATATATATATATGTATATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0093 a0001c0001t0018g0093	1	118	0.0085	-138	c.59 others(11): Show c.5957_*6094del		B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding					1932		chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467768	GTGGAGAT others(131): Show GTGGAGATGGTGGTGTTGATGGTGATGGTACTGGTGGTGATGGTACTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGATGCTACTGGTGGTGATGGTAC TGGTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0219 a0001c0001t0018g0211 a0001c0001t0005g0219 a0001c0001t0018g0211	2	262	0.0076	-138	c.487 others(15): Show c.487+826_487+963del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BCL11A_chr2_60452194_60558654	60467777	GTGGTGTT others(131): Show GTGGTGTTGATGGTGATGGTACTGGTGGTGATGGTACTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGATGCTACTGGTGGTGATGGTACTGGTGGTGA TGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGGTGG	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp2 others(2): Show HG01256.hp1 HG01256.hp2 HG01258.hp2 HG03654.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0004g0082 others(2): Show a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0004g0082 a0001c0001t0011g0150 a0001c0001t0011g0151	5	262	0.0191	-138	c.487 others(15): Show c.487+817_487+954del		BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3						chr2	TogoVar
BRDT_chr1_91944401_92019421	91962184	AAAAAAAA others(131): Show AAAAAAAAATCCAAGGCTAAGGCATATATAGTGAAACTTTTACTATTTGT ATATAAAAAATTTGTATTTGTTTAAAAATTGATTCCTTTGCCATTTGGCT TTTTTTTTTTTTCATCCTGTCTTAATCATGATGTGCTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03041.hp2 HG01346.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0123 a0004c0004t0002g0296 a0004c0004t0002g0123 a0004c0004t0002g0296	2	318	0.0063	-138	c.-37 others(15): Show c.-37-529_-37-392del		BRDT	ENSG00000137948.19	transcript	ENST00000399546.7	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
BTBD19_chr1_44803523_44820585	44816457	TTATATAT others(131): Show TTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG AGTATATTATATATACACATAGATGTGTGTATATTATATATACACATAGA TGTGTGTATATATTATATATACACATAGATGTGTGTGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01516.hp2 HG01517.hp2 others(3): Show HG00099.hp2 HG01516.hp2 HG01517.hp2 HG03688.hp1 HG03710.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 others(2): Show a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0040 a0001c0001t0067	a0001c0001t0013g0005 a0001c0001t0015g0005 a0001c0001t0016g0005 others(2): Show a0001c0001t0013g0005 a0001c0001t0015g0005 a0001c0001t0016g0005 a0001c0001t0040g0008 a0001c0001t0067g0005	6	436	0.0138	-138	c.26 others(11): Show c.2686_*2823del		BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding					873		chr1	TogoVar
BTNL8_chr5_180894159_180955906	180917164	CGGCACTA others(131): Show CGGCACTATGAAAAATCATAGGCCAACAAACTGGATAACCTAGCAGAAAC CAAAGACAAGGTTAGACTACGGCACTATGAAAAATCATAGGCCAACAAAC TGGATAACCTAGCAGAAACCAAAGACAAGGTTAGACTAT	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA19010.hp2 NA19086.hp2 NA18966.hp2 NA19010.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0085 a0001c0001t0001g0016 a0001c0001t0001g0085	3	190	0.0158	-138	c.673 others(17): Show c.673+5688_673+5825del		BTNL8	ENSG00000113303.12	transcript	ENST00000340184.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr5	TogoVar
C1orf174_chr1_3884133_3905272	3891951	AGCCCGGG others(131): Show AGCCCGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCC CGGGTCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGGGCCCGGG TCTAGACACACACACGGGTGGGCGGGTGCTAGGATCAGG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA18977.hp1 HG01943.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0084 a0001c0001t0004g0089 a0001c0001t0002g0084 a0001c0001t0004g0089	2	440	0.0046	-138	c.129 others(15): Show c.129+794_130-895del		C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3						chr1	TogoVar
C1orf174_chr1_3884133_3905272	3892395	CGGGTGCT others(131): Show CGGGTGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGCGGG TGCTAGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGAGGGTGCT AGGATCAGGGCCCGGGTCTAGACACACACACGGGTGGGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp1 others(8): Show HG00140.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp1 HG01257.hp2 NA18963.hp1 NA18983.hp2 NA18984.hp2 NA19000.hp1 NA19002.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0043 others(4): Show a0001c0001t0002g0026 a0001c0001t0002g0036 a0001c0001t0002g0043 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0002g0126 a0001c0001t0004g0096	11	440	0.0250	-138	c.129 others(15): Show c.129+350_129+487del		C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding	2/3						chr1	TogoVar
C2CD3_chr11_74007718_74176002	74117048	GTATATAT others(131): Show GTATATATATATGAATATATATATATGAATATATATATGAATATATATAT ATGAATATATATATATGAATATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATATGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0013 a0005c0006t0001g0013	1	318	0.0031	-138	c.152 others(19): Show c.1520+1042_1520+1179del		C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32						chr11	TogoVar
C3_chr19_6672704_6725650	6700559	TGTAATAT others(131): Show TGTAATATATGATATATTATATATGTAATATATAATATATGATATATTAT ATATGTAATATATAATATATGATATATTATATATGTAATATATAATATAT GATATATTATATATGTAATATATAATATATGATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01934.hp1 HG02109.hp2 others(16): Show HG01891.hp2 HG01934.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02965.hp2 HG03209.hp2 HG03453.hp1 HG03540.hp2 HG03669.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA19010.hp1	a0001 a0001	a0001c0011 a0001c0014 a0001c0019 others(5): Show a0001c0011 a0001c0014 a0001c0019 a0001c0055 a0001c0057 a0001c0064 a0001c0065 a0001c0073	a0001c0011t0001 a0001c0014t0001 a0001c0019t0001 others(5): Show a0001c0011t0001 a0001c0014t0001 a0001c0019t0001 a0001c0055t0001 a0001c0057t0004 a0001c0064t0001 a0001c0065t0001 a0001c0073t0001	a0001c0011t0001g0006 a0001c0011t0001g0008 a0001c0011t0001g0011 others(14): Show a0001c0011t0001g0006 a0001c0011t0001g0008 a0001c0011t0001g0011 a0001c0011t0001g0301 a0001c0011t0001g0302 a0001c0011t0001g0338 a0001c0011t0001g0340 a0001c0014t0001g0104 a0001c0019t0001g0021 a0001c0019t0001g0022 a0001c0019t0001g0023 a0001c0019t0001g0339 a0001c0055t0001g0130 a0001c0057t0004g0362 a0001c0064t0001g0233 a0001c0065t0001g0050 a0001c0073t0001g0361	19	370	0.0514	-138	c.244 others(19): Show c.2440+1430_2440+1567del		C3	ENSG00000125730.18	transcript	ENST00000245907.11	protein_coding	19/40						chr19	TogoVar
C7orf50_chr7_992006_1143247	1001436	TTCCTGTG others(131): Show TTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTG GAGTCCTGCGGGTGAGTGGAGTCCTGTGGGTGAGTGGAATCCTGTGGGTG GGGAGTCCTGTGGGTGAGTGGAGCCCTGTGGGTGGGGAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03942.hp2 HG01361.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0032 a0001c0001t0003g0232 a0001c0001t0001g0032 a0001c0001t0003g0232	2	326	0.0061	-138	c.324 others(16): Show c.324-1023_324-886del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1003130	TGGGTGAG others(131): Show TGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCC TGCGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGT CCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0082 a0001c0001t0001g0083	2	326	0.0061	-138	c.324 others(17): Show c.324-2717_324-2580del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127627	TGTCACCC others(131): Show TGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18965.hp1 NA18986.hp2 NA18522.hp2 NA18965.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0020 a0001c0001t0004g0199 a0001c0001t0012g0291 a0001c0001t0001g0020 a0001c0001t0004g0199 a0001c0001t0012g0291	3	326	0.0092	-138	c.-1- others(13): Show c.-1-379_-1-242del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127745	GCGATCTC others(131): Show GCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGA TCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	326	0.0031	-138	c.-1- others(13): Show c.-1-497_-1-360del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1128439	CATCTCGG others(131): Show CATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATC TCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGG CTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCG	C C	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	326	0.0031	-138	c.-1- others(15): Show c.-1-1191_-1-1054del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CACNG7_chr19_53904278_53948950	53923925	GTCCCCAG others(131): Show GTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGG AGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTCAT TGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG01891.hp2 others(6): Show HG01109.hp1 HG01243.hp2 HG01891.hp2 HG02145.hp2 HG02615.hp2 HG02647.hp1 HG02717.hp1 HG03471.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0006g0017 a0001c0001t0006g0020 a0001c0002t0002g0019	9	364	0.0247	-138	c.424 others(17): Show c.424+8421_424+8558del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5						chr19	TogoVar
CCDC187_chr9_136244973_136309094	136251930	GAGCCGGC others(131): Show GAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCC GCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCGCCCAC CCAGTCCACCCTGGGAAGGTCCAGGCAACCATCCCGCAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02895.hp2 NA20129.hp2 HG02630.hp2 HG02895.hp2 NA20129.hp2	a0037 a0037	a0037c0023 a0037c0023	a0037c0023t0023 a0037c0023t0023	a0037c0023t0023g0085 a0037c0023t0023g0217 a0037c0023t0023g0218 a0037c0023t0023g0085 a0037c0023t0023g0217 a0037c0023t0023g0218	3	400	0.0075	-138	c.15 others(11): Show c.1526_*1663del		CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26				1526		chr9	TogoVar
CDK12_chr17_39456486_39539544	39499051	CTTTCTTT others(131): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	260	0.0039	-138	c.242 others(19): Show c.2420-2197_2420-2060del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CENPVL3_chrX_51612020_51623912	51621566	CTTCTTCT others(131): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	298	0.0034	-138	c.-28 others(11): Show c.-2831_-2694del		CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding					2655		chrX	TogoVar
CLDN8_chr21_30209006_30221097	30210219	CATATATA others(131): Show CATATATATATATATATATATATATATAGTCTCCCTAATTGTAATTCAAG GTACGTATGTGTATATATATATATATATATATATATATATATATATATAT ATATATATATAGTCTCCCTAATTCTAATTCAAGGTACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01070.hp1 others(14): Show HG00423.hp2 HG00621.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp1 HG02074.hp2 HG03491.hp1 HG03492.hp2 HG03704.hp1 HG04115.hp1 NA18942.hp2 NA18949.hp2 NA18962.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0005g0000	17	466	0.0365	-138	c.48 others(11): Show c.4891_*5028del		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3786		chr21	TogoVar
CLEC4M_chr19_7758243_7774605	7765914	GGCTGAAG others(131): Show GGCTGAAGGCTGCAGTGGGTGAGTTGCCAGAGAAATCCAAGCTGCAGGAG ATCTACCAGGAGCTGACCCGGCTGAAGGCTGCAGTGGGTGAGTTGCCAGA GAAATCCAAGCTGCAGGAGATCTACCAGGAGCTGACGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(85): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02809.hp2 HG03098.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA19002.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA21309.hp2	a0002 a0006 a0010 others(2): Show a0002 a0006 a0010 a0011 a0017	a0002c0002 a0002c0014 a0006c0007 others(3): Show a0002c0002 a0002c0014 a0006c0007 a0010c0012 a0011c0022 a0017c0013	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0012 a0002c0014t0002 a0006c0007t0001 a0006c0007t0002 a0010c0012t0001 a0011c0022t0001 a0017c0013t0001	a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 others(17): Show a0002c0002t0001g0003 a0002c0002t0001g0016 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0033 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0016 a0002c0002t0002g0039 a0002c0002t0003g0015 a0002c0002t0003g0034 a0002c0002t0005g0003 a0002c0002t0012g0003 a0002c0014t0002g0016 a0006c0007t0001g0032 a0006c0007t0002g0042 a0010c0012t0001g0003 a0011c0022t0001g0003 a0017c0013t0001g0003	88	460	0.1913	-138	c.560 others(7): Show c.560_697del	p.Arg others(13): Show p.Arg187_Thr232del	CLEC4M	ENSG00000104938.18	transcript	ENST00000327325.10	protein_coding	4/7	584/1841	560/1200	187/399		INFO_REALIGN_3_PRIME	chr19	TogoVar
CLN8_chr8_1758789_1791570	1763383	GCGCCCGC others(131): Show GCGCCCGCCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGC GCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCG CGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG03710.hp1 HG01123.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0102 a0001c0001t0004g0068 a0001c0001t0004g0102	2	413	0.0048	-138	c.-62 others(9): Show c.-625_-488del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					405		chr8	TogoVar
CNN2_chr19_1021608_1044065	1034392	CGGTGTCT others(131): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(7): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG01516.hp2 HG02109.hp2 HG02135.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0002t0004 a0001c0001t0001 a0001c0001t0005 a0001c0002t0004	a0001c0001t0001g0053 a0001c0001t0001g0194 a0001c0001t0001g0261 others(7): Show a0001c0001t0001g0053 a0001c0001t0001g0194 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0002t0004g0266	10	390	0.0256	-138	c.390 others(17): Show c.390+1697_391-1600del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6						chr19	TogoVar
CNN2_chr19_1021608_1044065	1034672	CGGTGTCT others(131): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG01257.hp2 others(19): Show HG00423.hp1 HG00621.hp2 HG01257.hp2 HG02257.hp1 HG02280.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 NA18612.hp2 NA18950.hp1 NA18959.hp1 NA18960.hp1 NA18967.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp2 NA18986.hp2 NA18999.hp1 NA19004.hp1 NA19007.hp2 NA19088.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0012 a0001c0001 a0001c0002 a0003c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0002t0004 a0003c0012t0005	a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0204 others(10): Show a0001c0001t0002g0003 a0001c0001t0002g0042 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0003g0003 a0001c0001t0005g0004 a0001c0001t0005g0078 a0001c0001t0009g0041 a0001c0001t0009g0244 a0001c0001t0014g0003 a0001c0002t0004g0206 a0003c0012t0005g0065	22	390	0.0564	-138	c.391 others(17): Show c.391-1457_391-1320del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6						chr19	TogoVar
CNN2_chr19_1021608_1044065	1034918	CGGTGTCT others(131): Show CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	2	390	0.0051	-138	c.391 others(17): Show c.391-1211_391-1074del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6						chr19	TogoVar

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