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
GAL3ST2_chr2_241771822_241809287	241806161	CCCCTCAG others(94): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01346.hp2 HG02040.hp1 others(6): Show HG00280.hp2 HG01346.hp2 HG02040.hp1 HG02148.hp2 HG02155.hp2 HG02970.hp1 HG03098.hp1 HG03834.hp2 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0020 a0001c0001t0001g0162 a0001c0001t0001g0185 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0002g0002 a0001c0001t0002g0155 a0001c0001t0002g0159 a0002c0002t0002g0143	9	285	0.0316	-101	c.19 others(11): Show c.1996_*2096del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1875		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807979	CCCCCCTC others(94): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCA GG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02572.hp1 NA19085.hp1 HG01884.hp2 HG02572.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0078 a0001c0001t0002g0070 a0002c0002t0002g0126 a0001c0001t0001g0078 a0001c0001t0002g0070 a0002c0002t0002g0126	3	307	0.0098	-101	c.38 others(11): Show c.3814_*3914del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3693		chr2	TogoVar
GARIN1B_chr7_128710391_128736743	128734866	CCACAGAA others(94): Show CCACAGAAAGAGAATGAGCTTGGAGAATTACACATGGCAGGTCTGTATGG CCAGTACTGGAAGTAGTGTACAACATCTCCACCCTCCTTCCTTCAGTCAG AG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0014	1	450	0.0022	-101	c.37 others(11): Show c.3754_*3854del	GARIN1B	ENSG00000135248.16	transcript	ENST00000621392.5	protein_coding		3124		chr7	TogoVar
GFPT2_chr5_180295698_180358336	180296831	CCCACACA others(94): Show CCCACACACACACGGAAGTACTTACCACACACACACACACACACACACAC AAGGAAGTACAACACACACGTAAGGAAGTACACACACGGAAGTACCCCCC CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0020	1	409	0.0024	-101	c.46 others(11): Show c.4632_*4732del	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3866		chr5	TogoVar
GLCE_chr15_69155635_69277207	69235339	CTCATGTG others(94): Show CTCATGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTA TGAGTCACTGTGCCCGGCCTGAAGATTATTATTTTTCTAATTGACTTAGA TA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02055.hp1 others(8): Show HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02717.hp2 HG02896.hp1 HG02965.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0008 a0002c0002 a0006c0008	a0002c0002t0002 a0002c0002t0004 a0006c0008t0004 a0002c0002t0002 a0002c0002t0004 a0006c0008t0004	a0002c0002t0002g0129 a0002c0002t0004g0103 a0002c0002t0004g0106 others(8): Show a0002c0002t0002g0129 a0002c0002t0004g0103 a0002c0002t0004g0106 a0002c0002t0004g0107 a0002c0002t0004g0111 a0002c0002t0004g0112 a0002c0002t0004g0113 a0002c0002t0004g0114 a0002c0002t0004g0115 a0002c0002t0004g0116 a0006c0008t0004g0108	11	340	0.0324	-101	c.-13 others(19): Show c.-13-20451_-13-20351del	GLCE	ENSG00000138604.10	transcript	ENST00000261858.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPALPP1_chr13_44984538_45035305	45024161	GTGTGTGT others(94): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTT TGAGACTGAGTCTCAATCTTCAAGTGTTTTTGCTTGGTATCCCCTAAAAC TC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18991.hp1 HG00621.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0243 a0001c0001t0003g0245	2	346	0.0058	-101	c.805 others(17): Show c.805-3560_805-3460del	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GXYLT2_chr3_72883046_72981915	72966501	ACAGGCTA others(94): Show ACAGGCTAGAGTGCAGTGGCATGATCATAGCTCACTGTAACCTCTAACTC CTGGGCTCAAGGAATCCTGCCAAGTAGCTTCAAGTGTGCCACCATGCCTG GC	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	294	0.0034	-101	c.977 others(16): Show c.977-1045_977-945del	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding	5/6			chr3	TogoVar
HELZ2_chr20_63553086_63579239	63559459	CAGTCAGG others(94): Show CAGTCAGGGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGAGGAGTCAGGGT CAGATGGGAGTCAGTCAGAGTCAGGTGGGAGGAGTCAGGGTCAGGTGGGA GG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02451.hp1 HG02895.hp2 others(4): Show HG00323.hp2 HG02451.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03209.hp1	a0030 a0031 a0034 others(2): Show a0030 a0031 a0034 a0055 a0066	a0030c0018 a0031c0039 a0034c0114 others(2): Show a0030c0018 a0031c0039 a0034c0114 a0055c0055 a0066c0135	a0030c0018t0010 a0031c0039t0090 a0031c0039t0094 others(3): Show a0030c0018t0010 a0031c0039t0090 a0031c0039t0094 a0034c0114t0108 a0055c0055t0113 a0066c0135t0112	a0030c0018t0010g0027 a0031c0039t0090g0079 a0031c0039t0094g0078 others(3): Show a0030c0018t0010g0027 a0031c0039t0090g0079 a0031c0039t0094g0078 a0034c0114t0108g0242 a0055c0055t0113g0244 a0066c0135t0112g0245	7	379	0.0185	-101	c.782 others(16): Show c.7826-190_7826-90del	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	19/19			chr20	TogoVar
HINT3_chr6_125951770_125985244	125962209	TACACATA others(94): Show TACACATATATATATATATATATATACACATATATATATATACACACATA TATATATATATACATACATATATATATACACATATATATATATATATATC AC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp2 HG02559.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0030 a0001c0001t0004g0170 a0001c0001t0003g0030 a0001c0001t0004g0170	2	220	0.0091	-101	c.202 others(17): Show c.202-4674_202-4574del	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HS6ST2_chrX_132621015_132963629	132637824	AATATTAT others(94): Show AATATTATATATAATATTTTATATATAATATATATATAATATATTATATA TAATATATATATAATATTTTATATATAATATTATATATAATATTTTATAT AT	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	201	0.0050	-101	c.106 others(19): Show c.1068-8832_1068-8732del	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HSD17B11_chr4_87331515_87396188	87378855	TAAATATA others(94): Show TAAATATATATAAATATATATATATAAATATATATATATAAATATATATA AATATATATATATAAATATATATAAATATATATATATATATATTTATATA TA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0362 a0001c0002t0004g0362	1	250	0.0040	-101	c.318 others(17): Show c.318+3299_318+3399del	HSD17B11	ENSG00000198189.11	transcript	ENST00000358290.9	protein_coding	2/6			chr4	TogoVar
HTR1E_chr6_86932528_87021679	87009789	CCCCCACC others(94): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGACTGACC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18906.hp1 HG02886.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0003 a0001c0001t0001g0015	2	298	0.0067	-101	c.-18 others(19): Show c.-185-5324_-185-5224del	HTR1E	ENSG00000168830.8	transcript	ENST00000305344.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGSF9B_chr11_133891438_133961968	133901915	AACACACA others(94): Show AACACACACCAAACCACACAACACACACACACATCACACACATGCACACC GCATCACACACATGCACACCAGACACATCACACACACACACACACCAGAC AT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00642.hp2 others(24): Show HG00280.hp1 HG00323.hp1 HG00642.hp2 HG01109.hp2 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03492.hp2 HG03834.hp2 HG04184.hp1 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0019 a0001c0037 a0001c0040 a0001c0042	a0001c0001t0017 a0001c0002t0018 a0001c0002t0022 others(14): Show a0001c0001t0017 a0001c0002t0018 a0001c0002t0022 a0001c0002t0034 a0001c0002t0069 a0001c0003t0017 a0001c0003t0027 a0001c0003t0066 a0001c0003t0106 a0001c0003t0119 a0001c0003t0130 a0001c0004t0128 a0001c0011t0017 a0001c0019t0048 a0001c0037t0079 a0001c0040t0104 a0001c0042t0120	a0001c0001t0017g0196 a0001c0002t0018g0055 a0001c0002t0018g0061 others(23): Show a0001c0001t0017g0196 a0001c0002t0018g0055 a0001c0002t0018g0061 a0001c0002t0018g0074 a0001c0002t0022g0007 a0001c0002t0022g0058 a0001c0002t0034g0056 a0001c0002t0034g0059 a0001c0002t0069g0060 a0001c0003t0017g0183 a0001c0003t0027g0028 a0001c0003t0027g0173 a0001c0003t0027g0174 a0001c0003t0066g0298 a0001c0003t0106g0281 a0001c0003t0119g0279 a0001c0003t0130g0180 a0001c0004t0128g0285 a0001c0011t0017g0184 a0001c0011t0017g0185 a0001c0011t0017g0194 a0001c0019t0048g0170 a0001c0019t0048g0178 a0001c0037t0079g0299 a0001c0040t0104g0186 a0001c0042t0120g0193	27	360	0.0750	-101	c.70 others(11): Show c.7053_*7153del	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	20/20	7053		chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133901941	ACACACAT others(94): Show ACACACATCACACACATGCACACCGCATCACACACATGCACACCAGACAC ATCACACACACACACACACCAGACATACACACACCATACCACACACCACA CC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01168.hp1 others(7): Show HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG02559.hp1 HG02615.hp1 HG02970.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0012 a0002c0007 others(1): Show a0001c0005 a0001c0012 a0002c0007 a0002c0016	a0001c0005t0009 a0001c0005t0060 a0001c0012t0059 others(4): Show a0001c0005t0009 a0001c0005t0060 a0001c0012t0059 a0002c0007t0029 a0002c0007t0030 a0002c0007t0056 a0002c0016t0028	a0001c0005t0009g0034 a0001c0005t0060g0297 a0001c0012t0059g0232 others(6): Show a0001c0005t0009g0034 a0001c0005t0060g0297 a0001c0012t0059g0232 a0002c0007t0029g0031 a0002c0007t0029g0033 a0002c0007t0030g0029 a0002c0007t0030g0030 a0002c0007t0056g0032 a0002c0016t0028g0004	10	360	0.0278	-101	c.70 others(11): Show c.7027_*7127del	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	20/20	7027		chr11	TogoVar
IL3RA_chrX_1331785_1387689	1352875	CATAGAAT others(94): Show CATAGAATCCCCCATGATGGGTTTCATCATGAGTCATAGAACCCCCTATC ATGGATTCCATCATGGGTCATGGGAACCCCCATCATGGGTCCCATCATGG TT	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0096 a0001c0001t0012g0096	1	113	0.0088	-101	c.616 others(15): Show c.616+370_616+470del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11			chrX	TogoVar
IL3RA_chrX_1331785_1387689	1352939	GGGTCATG others(94): Show GGGTCATGGGAACCCCCATCATGGGTCCCATCATGGTTCATAGGATCCCC CATCATGGGTTTCATCATGAGTCATAGAACCCCCTATCATGGATTCCATC AT	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	113	0.0088	-101	c.616 others(15): Show c.616+436_616+536del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366661	TGCCCCGG others(94): Show TGCCCCGGGTGAGCGGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGAGC GGGGTGCGCGGAGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGT GC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0096 a0001c0001t0012g0096	1	111	0.0090	-101	c.874 others(17): Show c.874+1412_874+1512del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCE_chr7_2553979_2619728	2577448	TTGGCTGT others(94): Show TTGGCTGTGCGCGCGGGGACTGTGTGCGGCGTATACGCATTGGCGTGTGC GTGGCTGTGTGTGCGGGGACGTGTGTGCGGCGTGCCCGCATTGGCGTGTG CG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0163 a0002c0004t0003g0163	1	404	0.0025	-101	c.466 others(15): Show c.466-774_466-674del	IQCE	ENSG00000106012.19	transcript	ENST00000402050.7	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr7	TogoVar
JAKMIP1_chr4_6021199_6205549	6037198	GAGGCAGA others(94): Show GAGGCAGAGGTTAACCCAGTAGCCCTCCATCACTGAGGCAGAGGCTAACC GGTATCCCTCCATCACTGAGTCAGAGGTTAACCCAGTAGCCCTCCAACAC CA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp1 NA19240.hp2 others(1): Show HG02055.hp1 HG02818.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0011 a0001c0001t0001g0178 a0001c0001t0001g0222 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0178 a0001c0001t0001g0222 a0001c0001t0004g0224	4	232	0.0172	-101	c.217 others(19): Show c.2176-1192_2176-1092del	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	18/20			chr4	TogoVar
JAKMIP3_chr10_132060946_132189858	132161129	AGGGGGCC others(94): Show AGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCT GGGGGGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATGCT GG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0045 a0004c0045	a0004c0045t0001 a0004c0045t0001	a0004c0045t0001g0090 a0004c0045t0001g0090	1	130	0.0077	-101	c.222 others(19): Show c.2221-2051_2221-1951del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	168002152	GTGGCCTC others(94): Show GTGGCCTCGGGCAGGTGAGAAGACACCTGAGGCGTGGCCTCGGGCAGGGG AGAAGACACCTTCAGGCATAGCCTCGGGCAGGTGAGAAAGACACCTGAGG CA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00639.hp2 others(60): Show HG00099.hp2 HG00323.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp1 HG04204.hp2 NA18906.hp2 NA18948.hp1 NA18949.hp1 NA18954.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18988.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0007 a0008 a0012 a0019	a0001c0001 a0001c0006 a0001c0022 others(7): Show a0001c0001 a0001c0006 a0001c0022 a0003c0004 a0005c0007 a0005c0024 a0007c0009 a0008c0012 a0012c0014 a0019c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0032 a0001c0006t0002 a0001c0022t0010 a0003c0004t0010 a0005c0007t0010 a0005c0024t0002 a0007c0009t0017 a0008c0012t0010 a0012c0014t0010 a0019c0017t0002	a0001c0001t0001g0166 a0001c0001t0001g0251 a0001c0001t0001g0252 others(58): Show a0001c0001t0001g0166 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0010g0256 a0001c0001t0017g0015 a0001c0001t0017g0304 a0001c0001t0032g0294 a0001c0006t0002g0262 a0001c0022t0010g0257 a0003c0004t0010g0018 a0005c0007t0010g0019 a0005c0024t0002g0261 a0007c0009t0017g0366 a0008c0012t0010g0258 a0012c0014t0010g0255 a0019c0017t0002g0315	63	374	0.1684	-101	c.-36 others(17): Show c.-369-363_-369-263del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LOC400499_chr16_11367015_11532247	11493931	GTGGCGTG others(94): Show GTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGG GGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCA GT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG03471.hp1 others(2): Show HG02895.hp1 HG02897.hp1 HG03471.hp1 HG03516.hp2 NA19240.hp2	a0028 a0165 a0172 others(1): Show a0028 a0165 a0172 a0244	a0028c0008 a0165c0056 a0172c0055 others(1): Show a0028c0008 a0165c0056 a0172c0055 a0244c0177	a0028c0008t0002 a0165c0056t0006 a0172c0055t0008 others(1): Show a0028c0008t0002 a0165c0056t0006 a0172c0055t0008 a0244c0177t0002	a0028c0008t0002g0301 a0028c0008t0002g0302 a0165c0056t0006g0006 others(2): Show a0028c0008t0002g0301 a0028c0008t0002g0302 a0165c0056t0006g0006 a0172c0055t0008g0298 a0244c0177t0002g0010	5	307	0.0163	-101	c.143 others(17): Show c.1432-236_1432-136del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493978	GGGGGGCG others(94): Show GGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGG GCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGT GA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA21309.hp2 HG06807.hp2 NA21309.hp2	a0195 a0254 a0195 a0254	a0195c0232 a0254c0034 a0195c0232 a0254c0034	a0195c0232t0007 a0254c0034t0002 a0195c0232t0007 a0254c0034t0002	a0195c0232t0007g0226 a0254c0034t0002g0112 a0195c0232t0007g0226 a0254c0034t0002g0112	2	308	0.0065	-101	c.143 others(17): Show c.1432-283_1432-183del	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LRCH3_chr3_197786254_197893436	197857390	ATATCAGT others(94): Show ATATCAGTCACACTGACATTCTCTTCCGGCTACCCCTCAAGCTCCTGTTA ATATCAGTTTACACTGACATTGTCTTCGTTCTGCCCCTCAAGCTCCTGCT AG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02976.hp2 NA18964.hp1 HG02965.hp2 HG02976.hp2 NA18964.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0006 a0001c0007t0001 a0001c0007t0006	a0001c0007t0001g0033 a0001c0007t0006g0158 a0001c0007t0006g0200 a0001c0007t0001g0033 a0001c0007t0006g0158 a0001c0007t0006g0200	3	290	0.0103	-101	c.164 others(19): Show c.1645-1436_1645-1336del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K15_chrX_19355059_19520508	19452250	GAAGAGAA others(94): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03492.hp1 HG04199.hp1 HG00621.hp1 HG03492.hp1 HG04199.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0001 a0002c0002t0002 a0009c0009t0001 a0001c0001t0001 a0002c0002t0002 a0009c0009t0001	a0001c0001t0001g0031 a0002c0002t0002g0144 a0009c0009t0001g0145 a0001c0001t0001g0031 a0002c0002t0002g0144 a0009c0009t0001g0145	3	158	0.0190	-101	c.995 others(17): Show c.995+4562_995+4662del	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAPK9_chr5_180228143_180297083	180296831	CCCACACA others(94): Show CCCACACACACACGGAAGTACTTACCACACACACACACACACACACACAC AAGGAAGTACAACACACACGTAAGGAAGTACACACACGGAAGTACCCCCC CA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	369	0.0027	-101	c.-51 others(11): Show c.-5132_-5032del	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4749		chr5	TogoVar
MBD3L4_chr19_7032749_7045179	7035248	TAATTATA others(94): Show TAATTATACATAACTATATTATATATAATATATAATATAATATAATATGA AATAATTTTATATAATTATATTATATTATATATATTATATATTATATATT AC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	-101	c.25 others(11): Show c.2512_*2612del	MBD3L4	ENSG00000205718.10	transcript	ENST00000381394.9	protein_coding		2500		chr19	TogoVar
MINAR1_chr15_79427336_79477304	79438091	GAGTGTGT others(94): Show GAGTGTGTCGGGTGTGGGTGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGG CTGGTAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGGGGTGTGGGTGT GT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	388	0.0026	-101	c.-51 others(17): Show c.-51+5559_-51+5659del	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINAR1_chr15_79427336_79477304	79438254	GAGTGTGT others(94): Show GAGTGTGTGGGGTGTGGATGGGGTGGGTAGTGAGTGTGTGGGGTGTGGGG CTGGTAGTGTGTGGAGTGTGGGGTGGGTAGTGAGTGTGGGGTGTGGGTGT GT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02717.hp1 HG02258.hp1 HG02647.hp1 HG02717.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0002c0003 a0004c0009 a0001c0007 a0002c0003 a0004c0009	a0001c0007t0008 a0002c0003t0003 a0004c0009t0047 a0001c0007t0008 a0002c0003t0003 a0004c0009t0047	a0001c0007t0008g0174 a0002c0003t0003g0187 a0004c0009t0047g0192 a0001c0007t0008g0174 a0002c0003t0003g0187 a0004c0009t0047g0192	3	302	0.0099	-101	c.-51 others(17): Show c.-51+5731_-51+5831del	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
MLPH_chr2_237482251_237560322	237542769	GGGGACAG others(94): Show GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGCGGACAGTGGTGA GT	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp1 HG01884.hp2 others(7): Show HG01346.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02896.hp1 HG02897.hp2 NA20300.hp2	a0002 a0003 a0015 others(2): Show a0002 a0003 a0015 a0016 a0024	a0002c0008 a0003c0003 a0015c0023 others(2): Show a0002c0008 a0003c0003 a0015c0023 a0016c0024 a0024c0050	a0002c0008t0001 a0003c0003t0001 a0003c0003t0005 others(4): Show a0002c0008t0001 a0003c0003t0001 a0003c0003t0005 a0015c0023t0003 a0015c0023t0016 a0016c0024t0005 a0024c0050t0005	a0002c0008t0001g0093 a0003c0003t0001g0261 a0003c0003t0001g0264 others(7): Show a0002c0008t0001g0093 a0003c0003t0001g0261 a0003c0003t0001g0264 a0003c0003t0005g0241 a0003c0003t0005g0262 a0003c0003t0005g0263 a0015c0023t0003g0256 a0015c0023t0016g0107 a0016c0024t0005g0141 a0024c0050t0005g0117	10	271	0.0369	-101	c.153 others(17): Show c.1539+114_1539+214del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544248	GGGGACAG others(94): Show GGGGACAGTAATGAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGT GGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGA AT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0016 a0016	a0016c0024 a0016c0024	a0016c0024t0001 a0016c0024t0001	a0016c0024t0001g0143 a0016c0024t0001g0143	1	276	0.0036	-101	c.153 others(19): Show c.1539+1593_1539+1693del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUSK_chr9_110663791_110811558	110701804	ATTTTATT others(94): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT AT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0275 a0002c0004t0005g0275	1	324	0.0031	-101	c.628 others(17): Show c.628+4342_628+4442del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO3B_chr2_170173147_170660167	170649096	GTATATTA others(94): Show GTATATTATATATAAAATAATATATAATGTATATAAAATAATATATAATA TATTATATATAAAATAATATATAATATATTATATATAAAATAATATATAT TA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG01891.hp2 HG02451.hp1	a0006 a0019 a0006 a0019	a0006c0021 a0019c0034 a0006c0021 a0019c0034	a0006c0021t0024 a0019c0034t0014 a0006c0021t0024 a0019c0034t0014	a0006c0021t0024g0082 a0019c0034t0014g0159 a0006c0021t0024g0082 a0019c0034t0014g0159	2	149	0.0134	-101	c.373 others(19): Show c.3734-2526_3734-2426del	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYOM2_chr8_2040046_2150456	2130334	AGGGCGCC others(94): Show AGGGCGCCCACACCCCGCCTTTAGTTAACGCCCCTCACTACGCTATACCC AGGGTGCCCACACCCCGCCTTTAGTTAACGCCCATCAGTACGCTATACCC AG	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0003 a0002c0048t0003	a0002c0048t0003g0200 a0002c0048t0003g0200	1	402	0.0025	-101	c.380 others(19): Show c.3800+1105_3800+1205del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NCOR2_chr12_124319415_124572612	124323152	CGAGTGTG others(94): Show CGAGTGTGAATACCTGACACATGGGTGTGAATACCCAACACCCTCACCCT GTGTATATGTGATACTCTTGCCATGAGTGTGAACACCTAACATCCTCACC AT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02897.hp2 HG03471.hp1 others(2): Show HG02109.hp1 HG02897.hp2 HG03471.hp1 HG03471.hp2 NA20129.hp2	a0002 a0008 a0002 a0008	a0002c0014 a0002c0124 a0008c0125 a0002c0014 a0002c0124 a0008c0125	a0002c0014t0001 a0002c0014t0017 a0002c0124t0015 others(1): Show a0002c0014t0001 a0002c0014t0017 a0002c0124t0015 a0008c0125t0058	a0002c0014t0001g0120 a0002c0014t0001g0223 a0002c0014t0017g0055 others(2): Show a0002c0014t0001g0120 a0002c0014t0001g0223 a0002c0014t0017g0055 a0002c0124t0015g0134 a0008c0125t0058g0164	5	136	0.0368	-101	c.21 others(11): Show c.2149_*2249del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		1262		chr12	TogoVar
NCOR2_chr12_124319415_124572612	124323337	ACCTAACA others(94): Show ACCTAACATCCTCACCATGAGTGTGAACACCTGACACATGGGTGTGAATA CCCAACACCCTCACCCTGTGTATATGTGATACTCTTGCCATGAGTGTGAA CC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00558.hp2 others(76): Show HG00280.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02630.hp2 HG02738.hp2 HG02818.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19067.hp2 NA19070.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0011 a0012 a0022 a0027 a0029 a0030	a0001c0005 a0001c0009 a0001c0013 others(48): Show a0001c0005 a0001c0009 a0001c0013 a0001c0022 a0001c0029 a0001c0031 a0001c0032 a0001c0049 a0001c0050 a0001c0052 a0001c0058 a0001c0085 a0001c0093 a0001c0097 a0001c0098 a0001c0136 a0001c0145 a0001c0147 a0001c0148 a0001c0149 a0002c0001 a0002c0006 a0002c0039 a0002c0114 a0002c0120 a0002c0122 a0002c0123 a0002c0150 a0003c0011 a0003c0012 a0003c0024 a0003c0042 a0003c0043 a0003c0044 a0003c0045 a0003c0075 a0004c0010 a0004c0051 a0005c0019 a0005c0067 a0005c0141 a0008c0036 a0010c0062 a0011c0037 a0011c0128 a0011c0156 a0012c0102 a0022c0104 a0027c0133 a0029c0158 a0030c0129	a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 others(73): Show a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 a0001c0005t0009 a0001c0009t0002 a0001c0009t0003 a0001c0009t0008 a0001c0013t0002 a0001c0013t0003 a0001c0013t0009 a0001c0022t0002 a0001c0022t0008 a0001c0029t0002 a0001c0029t0018 a0001c0031t0013 a0001c0032t0002 a0001c0032t0020 a0001c0049t0042 a0001c0050t0008 a0001c0052t0003 a0001c0058t0032 a0001c0085t0013 a0001c0093t0010 a0001c0097t0002 a0001c0098t0007 a0001c0136t0003 a0001c0145t0009 a0001c0147t0009 a0001c0148t0009 a0001c0149t0013 a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 a0002c0001t0010 a0002c0001t0015 a0002c0001t0080 a0002c0006t0002 a0002c0006t0008 a0002c0006t0010 a0002c0006t0020 a0002c0006t0076 a0002c0039t0015 a0002c0114t0018 a0002c0120t0003 a0002c0122t0002 a0002c0123t0013 a0002c0150t0001 a0003c0011t0002 a0003c0011t0018 a0003c0011t0081 a0003c0012t0002 a0003c0012t0003 a0003c0012t0013 a0003c0024t0003 a0003c0042t0017 a0003c0043t0002 a0003c0044t0045 a0003c0045t0046 a0003c0075t0003 a0004c0010t0021 a0004c0051t0061 a0005c0019t0008 a0005c0019t0010 a0005c0067t0008 a0005c0141t0010 a0008c0036t0015 a0010c0062t0002 a0011c0037t0002 a0011c0037t0050 a0011c0128t0007 a0011c0156t0007 a0012c0102t0007 a0022c0104t0020 a0027c0133t0038 a0029c0158t0032 a0030c0129t0038	a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0003g0186 others(76): Show a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0003g0186 a0001c0005t0008g0071 a0001c0005t0009g0080 a0001c0009t0002g0081 a0001c0009t0003g0228 a0001c0009t0008g0025 a0001c0013t0002g0022 a0001c0013t0003g0142 a0001c0013t0009g0003 a0001c0022t0002g0034 a0001c0022t0008g0030 a0001c0029t0002g0040 a0001c0029t0018g0154 a0001c0031t0013g0073 a0001c0032t0002g0078 a0001c0032t0020g0096 a0001c0049t0042g0089 a0001c0050t0008g0035 a0001c0052t0003g0215 a0001c0058t0032g0007 a0001c0085t0013g0088 a0001c0093t0010g0214 a0001c0097t0002g0102 a0001c0098t0007g0178 a0001c0136t0003g0194 a0001c0145t0009g0067 a0001c0147t0009g0097 a0001c0148t0009g0068 a0001c0149t0013g0029 a0002c0001t0001g0220 a0002c0001t0003g0157 a0002c0001t0003g0173 a0002c0001t0007g0177 a0002c0001t0010g0204 a0002c0001t0015g0180 a0002c0001t0080g0231 a0002c0006t0002g0024 a0002c0006t0008g0008 a0002c0006t0010g0218 a0002c0006t0020g0092 a0002c0006t0076g0179 a0002c0039t0015g0226 a0002c0114t0018g0141 a0002c0120t0003g0200 a0002c0122t0002g0039 a0002c0123t0013g0103 a0002c0150t0001g0158 a0003c0011t0002g0090 a0003c0011t0018g0221 a0003c0011t0081g0234 a0003c0012t0002g0014 a0003c0012t0003g0222 a0003c0012t0013g0041 a0003c0024t0003g0197 a0003c0024t0003g0198 a0003c0042t0017g0095 a0003c0043t0002g0086 a0003c0044t0045g0061 a0003c0045t0046g0031 a0003c0075t0003g0191 a0004c0010t0021g0077 a0004c0051t0061g0181 a0005c0019t0008g0038 a0005c0019t0010g0216 a0005c0067t0008g0026 a0005c0141t0010g0184 a0008c0036t0015g0175 a0010c0062t0002g0010 a0011c0037t0002g0083 a0011c0037t0050g0082 a0011c0128t0007g0155 a0011c0156t0007g0190 a0012c0102t0007g0176 a0022c0104t0020g0004 a0027c0133t0038g0160 a0029c0158t0032g0023 a0030c0129t0038g0189	79	220	0.3591	-101	c.19 others(11): Show c.1964_*2064del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		1077		chr12	TogoVar
NDST3_chr4_118029486_118263634	118066677	TATAACAT others(94): Show TATAACATGTTATATATTATATATACATTATATATAACATGTTATATATT ATATATACATTATATATAACATGTTATATATTATATATACATTATATATA AC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	211	0.0047	-101	c.981 others(19): Show c.981+11789_981+11889del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NDST3_chr4_118029486_118263634	118066709	TATAACAT others(94): Show TATAACATGTTATATATTATATATACATTATATATAACATGTTATATATT ATATATACATTATATATAACATGTTATATATTATATATACATTATATATA AC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG00735.hp1 others(46): Show HG00544.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG02165.hp2 HG02486.hp2 HG02717.hp1 HG02738.hp2 HG03209.hp2 HG03688.hp1 HG03834.hp1 HG04204.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18973.hp2 NA18975.hp2 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19068.hp1 NA19084.hp1 NA19088.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0012 others(1): Show a0001c0001 a0001c0003 a0001c0012 a0001c0015	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0003t0002 a0001c0003t0007 a0001c0012t0002 a0001c0015t0005	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 others(46): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0122 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0010g0074 a0001c0001t0016g0045 a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0025 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0035 a0001c0003t0002g0041 a0001c0003t0002g0091 a0001c0003t0002g0093 a0001c0003t0002g0119 a0001c0003t0002g0196 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0007g0034 a0001c0012t0002g0044 a0001c0015t0005g0030	49	187	0.2620	-101	c.981 others(19): Show c.981+11821_981+11921del	NDST3	ENSG00000164100.9	transcript	ENST00000296499.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
NEK10_chr3_27101484_27374383	27282581	ATACATAA others(94): Show ATACATAACTGTGTTATATATATATACATAACTGTGTTATATATATATAC ATAACTGTGTTATATATATACATAACTGTGTTATATATATACATAACTGT GT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02486.hp1 HG03041.hp1 others(1): Show HG01934.hp2 HG02486.hp1 HG03041.hp1 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0004c0005 a0004c0025 a0001c0007 a0004c0005 a0004c0025	a0001c0007t0016 a0001c0007t0030 a0004c0005t0005 others(1): Show a0001c0007t0016 a0001c0007t0030 a0004c0005t0005 a0004c0025t0006	a0001c0007t0016g0159 a0001c0007t0030g0146 a0004c0005t0005g0152 others(1): Show a0001c0007t0016g0159 a0001c0007t0030g0146 a0004c0005t0005g0152 a0004c0025t0006g0153	4	232	0.0172	-101	c.201 others(19): Show c.2014+1920_2014+2020del	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK9_chr14_75074353_75132048	75096300	AAGCTTCT others(94): Show AAGCTTCTCAAGGATTCTAATGTATGTGCTGCTAAGGTTGCAAACCACTG ATCTAAAAGTAGACTTATAAACCCTTACACAGGCATTTATAAAGTAGTTC CT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0215 a0002c0016t0001g0215	1	276	0.0036	-101	c.217 others(17): Show c.2173+699_2173+799del	NEK9	ENSG00000119638.14	transcript	ENST00000238616.10	protein_coding	17/21			chr14	TogoVar
NEU4_chr2_241804193_241822413	241805918	GGAACCTC others(94): Show GGAACCTCCGCAGACCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCTC CCTCCCCCCTCAGCCCAAGGGACCTAGGCAGGCCACCCTCCCCCCTCAGC CC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02300.hp2 HG02486.hp2 HG01099.hp2 HG02300.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0003 a0001c0004t0001 a0002c0003t0003 a0001c0001t0003 a0001c0004t0001 a0002c0003t0003	a0001c0001t0003g0187 a0001c0004t0001g0158 a0002c0003t0003g0105 a0001c0001t0003g0187 a0001c0004t0001g0158 a0002c0003t0003g0105	3	318	0.0094	-101	c.-33 others(11): Show c.-3359_-3259del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3274		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806161	CCCCTCAG others(94): Show CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA ACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01192.hp1 HG01261.hp1 others(8): Show HG00280.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG02040.hp1 HG02970.hp1 HG03669.hp1 HG03834.hp1 NA18947.hp1 NA18998.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0030 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0030 a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0074 a0001c0002t0001g0079 a0001c0004t0001g0060 a0002c0003t0002g0036	11	290	0.0379	-101	c.-31 others(11): Show c.-3116_-3016del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3031		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807979	CCCCCCTC others(94): Show CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGC CCAGGGACCTCTGCAGGCCACTCTCCCCTCTTAGCCCAGGGACCTCGGCA GG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 NA19003.hp1 others(2): Show HG01884.hp1 HG02572.hp1 NA19003.hp1 NA19079.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0002c0008 a0001c0004 a0002c0003 a0002c0008	a0001c0004t0001 a0002c0003t0002 a0002c0008t0002 a0001c0004t0001 a0002c0003t0002 a0002c0008t0002	a0001c0004t0001g0019 a0001c0004t0001g0161 a0002c0003t0002g0021 others(2): Show a0001c0004t0001g0019 a0001c0004t0001g0161 a0002c0003t0002g0021 a0002c0008t0002g0136 a0002c0008t0002g0138	5	315	0.0159	-101	c.-12 others(11): Show c.-1298_-1198del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1213		chr2	TogoVar
NEU4_chr2_241804193_241822413	241810728	GGGGACAG others(94): Show GGGGACAGGCTGGGGGCAGGCCAGCGTGAAAGGGACTGGCAGGAGTCCTG CGGGGACAGGCTGGGGGCAGGCCAGCGTGAATGGGACTGGCAGGAGTCCT GC	G G	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0171 a0011c0021t0001g0171	1	318	0.0031	-101	c.-4+ others(15): Show c.-4+1458_-4+1558del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
NIPAL3_chr1_24410802_24477976	24469876	GAAGTTAA others(94): Show GAAGTTAAGAGAAGGGGAAGAATATGGAGGATAGGAGAGGGTGATGATGC TTTAGCCCATTAAGGAAGAAAAGTTCCCCTTACTCTTACAAAAGGTGATT GC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0187 a0001c0001t0039g0187	1	378	0.0026	-101	c.69 others(9): Show c.693_*793del	NIPAL3	ENSG00000001461.17	transcript	ENST00000374399.9	protein_coding	12/12	693	INFO_REALIGN_3_PRIME	chr1	TogoVar
NLRP4_chr19_55831540_55886855	55851428	TACGAGGC others(94): Show TACGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATT TA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA20129.hp1 HG01884.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0033 a0002c0003 a0001c0033 a0002c0003	a0001c0033t0007 a0002c0003t0029 a0001c0033t0007 a0002c0003t0029	a0001c0033t0007g0343 a0002c0003t0029g0363 a0001c0033t0007g0343 a0002c0003t0029g0363	2	412	0.0049	-101	c.-65 others(15): Show c.-65-587_-65-487del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851492	TGGCTGCG others(94): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTACCGAGGCTGCGG TGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCC GA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02300.hp1 HG02165.hp2 HG02300.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0012 a0002c0002 a0005c0012	a0002c0002t0005 a0005c0012t0003 a0002c0002t0005 a0005c0012t0003	a0002c0002t0005g0368 a0005c0012t0003g0210 a0002c0002t0005g0368 a0005c0012t0003g0210	2	299	0.0067	-101	c.-65 others(15): Show c.-65-489_-65-389del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRXN3_chr14_78165373_79873291	79487607	ATCTATCC others(94): Show ATCTATCCCTCCAGAAGTCTACCCAGCCTGAGGATAATGGCAGCTGCAGG GTTACAGGGGTAACTGTCCATCTGTCTGAATTCTCAGTTGTGTGAGAGCC TG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0006t0017 a0001c0001t0008 a0001c0006t0017	a0001c0001t0008g0008 a0001c0006t0017g0001 a0001c0001t0008g0008 a0001c0006t0017g0001	2	24	0.0833	-101	c.344 others(21): Show c.3444+20207_3444+20307del	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
OPCML_chr11_132409981_133537501	133458506	ATATACAC others(94): Show ATATACACATATATACACTGTGTGTGTATACACATATATACACGTGTGTG TGTATACACATATATACACGTGTGTGTACACATATATACACGTGTGTGTG TG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	58	0.0172	-101	c.61+ others(17): Show c.61+73657_61+73757del	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PCBP3_chr21_45638725_45947450	45886119	CGCTGGTA others(94): Show CGCTGGTACCAAGGACAGAGGACATGGTGAGGTGTGGAGGAGGCCTCGTT GCCGCGGGTGCCAAGGGCAGAGGACGTGGTGAGGTGTGGAGGCCTCATTG CT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00438.hp2 others(96): Show HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(96): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0094 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0008g0114 a0001c0001t0013g0162 a0001c0001t0017g0098 a0001c0001t0022g0216 a0001c0001t0024g0237 a0001c0002t0001g0132 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0003c0005t0001g0161 a0004c0007t0001g0141	99	290	0.3414	-101	c.11- others(16): Show c.11-10086_11-9986del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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