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
FER_chr5_108742897_109201841	108992508	A A	ACCCCCCA others(220): Show ACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCTCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACA GGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCCCACCTCCCTCCGGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG01891.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0009 a0001c0004t0023 a0001c0004t0006 a0001c0004t0009 a0001c0004t0023	a0001c0004t0006g0049 a0001c0004t0006g0078 a0001c0004t0006g0080 others(2): Show a0001c0004t0006g0049 a0001c0004t0006g0078 a0001c0004t0006g0080 a0001c0004t0009g0117 a0001c0004t0023g0083	5	138	0.0362	227	c.165 others(248): Show c.1656+33186_1656+33187insTGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCTCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACA GGGCGGCTGGCCAGGCAGGGGGCTGACCCCCCCCCACCTCCCTCCGGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGG	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FMN2_chr1_240086883_240480187	240184948	T T	TCCCCTTC others(220): Show TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0131 a0001c0009t0006g0131	1	174	0.0058	227	c.193 others(246): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC C	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRD_chr1_2014345_2035758	2019221	G G	GGGGGGCG others(220): Show GGGGGGCGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGG GGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGAG GGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGAGGG GATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGATGGGGGCGGG GGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	364	0.0028	227	c.-20 others(236): Show c.-203_-202insGGGGGCGGGGGAGGAGAGGGGGGAGAGGGGAGGGGA CCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGG GGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGG GCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAG GGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding		123		chr1	TogoVar
GAK_chr4_844277_937316	926951	G G	GCAACCCC others(220): Show GCAACCCCCCCCACCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCT CCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTG CAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGC CCCGCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCC CAGCTCACCTGCGCTCCGCACTGCCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02647.hp1 HG02922.hp2 others(1): Show HG02486.hp2 HG02647.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0024t0001g0021	4	390	0.0103	227	c.145 others(244): Show c.145+5091_145+5092insTGGGGCAGTGCGGAGCGCAGGTGAGCTG GGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGTGGGGGGGGTTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GOLGA8A_chr15_34374068_34442808	34419422	C C	CTCTTTCT others(220): Show CTCTTTCTTTTCTTTTCTTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0109 a0004c0004t0109	a0004c0004t0109g0205 a0004c0004t0109g0205	1	245	0.0041	227	c.-11 others(250): Show c.-1122-11688_-1122-11687insAAAAGAAAGAAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAAGAAAAGAAAAGAAAAG AAAGA	GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	2/24			chr15	TogoVar
GPIHBP1_chr8_143208218_143222170	143218184	A A	ACCCCCAA others(220): Show ACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCAA CACCACCCCCAATACCACCCCCACCACCCCCAACACCACCCCCAACACCA CCCCAACACCACCCCCACACCGCCCACACACCAGCCCCAACACCACCCCC AACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCACCA CCACCCCCACACCACCCCCAACACCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	1	106	0.0094	227	c.26 others(238): Show c.2666_*2667insCCCCCAACACCATCCCCAACACCCCAATAACCCC CCAACACCACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACA CCACCCCCAACACCACCCCAACACCACCCCCACACCGCCCACACACCAGC CCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCA ACACCACCCCCACCACCACCCCCACACCACCCCCAACACCACC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1015		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116228	A A	AATATAAT others(220): Show AATATAATTATATATAATTATATTATATATATTATATATAATATAATTAT ATATAATTATATTATATATATATTATATTATATATAATTATATATAATTA TATTATATATTATATGTAATATAAATATATATAATTATATTATATATATT ATATGTAATATAATTATATATATTTATATTATATATTATATATAATATAA TTATATATATAATTATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0369 a0003c0003t0004g0369	1	404	0.0025	227	c.384 others(244): Show c.384-4740_384-4739insATAATATATATTATAATTATATATATAA TTATATTATATATAATATATAATATAAATATATATAATTATATTACATAT AATATATATAATATAATTATATATATTTATATTACATATAATATATAATA TAATTATATATAATTATATATAATATAATATATATATAATATAATTATAT ATAATTATATTATATATAATATATATAATATAATTATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
H4C11_chr6_27819092_27829480	27826984	C C	CGGGCGGG others(220): Show CGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGAGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGA CCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	227	c.25 others(238): Show c.2548_*2549insGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGAGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2505		chr6	TogoVar
H4C11_chr6_27819092_27829480	27826984	C C	CGGGCGGG others(220): Show CGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGA CCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02572.hp1 HG02622.hp1 others(4): Show HG01255.hp1 HG02572.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	396	0.0177	227	c.25 others(238): Show c.2548_*2549insGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCT	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2505		chr6	TogoVar
H4C12_chr6_27826174_27836560	27826984	C C	CGGGCGGG others(220): Show CGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGAGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGA CCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	419	0.0024	227	c.42 others(238): Show c.4231_*4232insAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGTCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCTGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGAATCAGCCCCCCGCCC	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		4189		chr6	TogoVar
H4C12_chr6_27826174_27836560	27826984	C C	CGGGCGGG others(220): Show CGGGCGGGGGGCTGATTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGA CCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02572.hp1 HG02622.hp1 others(4): Show HG01255.hp1 HG02572.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	419	0.0167	227	c.42 others(238): Show c.4231_*4232insAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGTGAGGGTCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGAATCAGCCCCCCGCCC	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		4189		chr6	TogoVar
HTR2C_chrX_114579086_114915061	114761990	C C	CATATATG others(220): Show CATATATGTGTATATATACGTGTATATATACATATATGTGTATATATACG TGTATATATACATATATGTGTATATATACGTGTATATATACATATATGTG TATATATACGTGTATATATACATATATGTGTATATATACGTGTATATATA CATATATGTGTATATATACGTGTATATATACATATGTGTATATATACGTG TATATATACATATGTGTATATATACGTG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	176	0.0057	227	c.349 others(246): Show c.349+30383_349+30384insATATATGTGTATATATACGTGTATAT ATACATATATGTGTATATATACGTGTATATATACATATATGTGTATATAT ACGTGTATATATACATATATGTGTATATATACGTGTATATATACATATAT GTGTATATATACGTGTATATATACATATATGTGTATATATACGTGTATAT ATACATATGTGTATATATACGTGTATATATACATATGTGTATATATACGT G	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5			chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TATGGAAT others(220): Show TATGGAATACACATATGGAATACATATATATGGAATACACATATGGAATA CATATATATGGAATACATATATGGAATACATATATATGGAATACATATAT GGAATACATATATATGGAATACATATATGGAATACATATATATGGAATAC ATATATGGAATACATATATATGGAATACATATATGGAATACATATATGTG GAATACATATTGGAATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	323	0.0031	227	c.-21 others(238): Show c.-2147_-2146insATGGAATACACATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACATATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATGTGGAATACATATTGGAATATATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGF2_chr11_2124117_2144389	2127026	T T	TCTGGATG others(220): Show TCTGGATGGATGGGTGGCAGGGATGGGTGGCAGGGATGGCGTGGCAGGGA CTGGGTGGCTGGATGGGCTGGCTGCGATGGGCTAGGCGGATGGGCTGGAT GATGAGGAGGGCTGGGTGGAGGGATGGATGGCTGGGTGGCGGGCTGGGTG GTTGGATGGTTGGATGGCTGGGAGGCGGGCCGGGAGGCTGGATGGGTGGC TGGCATGGGTCGGGGCTGGGTGGATGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0012 a0001c0001t0009g0012	1	388	0.0026	227	c.59 others(238): Show c.5960_*5961insCTCATCCACCCAGCCCCGACCCATGCCAGCCACC CATCCAGCCTCCCGGCCCGCCTCCCAGCCATCCAACCATCCAACCACCCA GCCCGCCACCCAGCCATCCATCCCTCCACCCAGCCCTCCTCATCATCCAG CCCATCCGCCTAGCCCATCGCAGCCAGCCCATCCAGCCACCCAGTCCCTG CCACGCCATCCCTGCCACCCATCCCTGCCACCCATCCATCCAG	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		2090		chr11	TogoVar
INPP5F_chr10_119721050_119834147	119722536	G G	GGAGCCCC others(220): Show GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGG GTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTTGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCGGCCCCTACTGGGAAGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0002 a0001c0003t0018g0002	1	328	0.0031	227	c.-37 others(238): Show c.-3727_-3726insGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGCGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGG AGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAA	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3513		chr10	TogoVar
INPP5F_chr10_119721050_119834147	119722536	G G	GGAGCCCC others(220): Show GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGG GTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTTGGGGGG TCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCGGCCCCTACTGGGAAGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	328	0.0031	227	c.-37 others(238): Show c.-3727_-3726insGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGCGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGG AGGGAGGTTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAA	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding		3513		chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(220): Show TAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0120 a0002c0003t0001g0120	1	308	0.0033	227	c.127 others(246): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCT T	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQSEC3_chr12_61767_183455	103629	G G	GGGGGAGG others(220): Show GGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGG GCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGGCGGGGCTCAGGAGGGAG AGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCG GTGGGGAGGCAGGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGG GGCTCAGGAGGGAGAGGTGGAGTTCGGT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01255.hp1 HG03017.hp1 others(3): Show HG01168.hp1 HG01255.hp1 HG03017.hp1 HG03579.hp2 NA18975.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0020	a0001c0004 a0001c0006 a0001c0019 others(3): Show a0001c0004 a0001c0006 a0001c0019 a0002c0009 a0003c0017 a0020c0047	a0001c0004t0001 a0001c0006t0002 a0001c0019t0034 others(3): Show a0001c0004t0001 a0001c0006t0002 a0001c0019t0034 a0002c0009t0002 a0003c0017t0015 a0020c0047t0042	a0001c0004t0001g0180 a0001c0006t0002g0196 a0001c0019t0034g0244 others(3): Show a0001c0004t0001g0180 a0001c0006t0002g0196 a0001c0019t0034g0244 a0002c0009t0002g0270 a0003c0017t0015g0056 a0020c0047t0042g0236	6	282	0.0213	227	c.623 others(244): Show c.623+4497_623+4498insCGGGGCTCAGGAGGGAGAGGTGGAGTTC GGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCA GGGCTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGT TCGGTGGGGAGGCAGGGCTCAGGGGTAGGTGGGGGCTCAGGAGGGGAGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224735	T T	TCCACCCA others(220): Show TCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACC CACCCACCCATCCATCCACCACCCACCCACCCACCCATCCATCCACCCAC CCACCCACCCATCCATCCACCCACCCACCCACCCACCCATCCATCCACCC ACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACCCACCCACCCAT CCATTTATCCACCTACCCACACATCCAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	292	0.0034	227	c.121 others(246): Show c.1210-1633_1210-1632insCCCACCCACCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCACCCATCCATCCACCACCCACCCAC CCACCCATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTC CCACCAACCCACCCACCCATCCATTTATCCACCTACCCACACATCCACCC A	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132160602	G G	GGCGTGTC others(220): Show GGCGTGTCTTCCTGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATGCTG GGGGGGCCTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGC TGGGGGGGTCTCTCCCTGTGTGATGCTGGGGGGGTCTCCCTGTGTGATGC TGGGGGCGTGTCTTCCTGTGTGATGCTGGGGGGCCTCTCGCTGTGTGATG CTGGGGGCGTGTCTTCCTGTGTGACGCT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0112 a0003c0002t0001g0112	1	158	0.0063	227	c.222 others(246): Show c.2221-2606_2221-2605insCGTGTCTTCCTGTGTGATGCTGGGGG GGTCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGG GGCGTGTCTTCCTGTGTGATGCTGGGGGGGTCTCTCCCTGTGTGATGCTG GGGGGGTCTCCCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGATGCTG GGGGGCCTCTCGCTGTGTGATGCTGGGGGCGTGTCTTCCTGTGTGACGCT G	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(220): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCC ACCGTCCCCCTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01071.hp1 others(30): Show HG00099.hp1 HG00323.hp1 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01993.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp2 HG02683.hp2 HG02735.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp1 HG03834.hp1 HG04204.hp1 HG04204.hp2 NA18943.hp1 NA19003.hp2 NA19082.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0003c0008 a0004c0013 a0008c0018	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0001t0038 a0001c0001t0097 a0001c0001t0110 a0001c0003t0051 a0001c0003t0102 a0001c0004t0016 a0003c0008t0023 a0004c0013t0003 a0008c0018t0038	a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 others(30): Show a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0309 a0001c0001t0005g0310 a0001c0001t0005g0316 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0330 a0001c0001t0017g0105 a0001c0001t0017g0117 a0001c0001t0017g0126 a0001c0001t0017g0128 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0030g0244 a0001c0001t0030g0262 a0001c0001t0038g0315 a0001c0001t0097g0263 a0001c0001t0110g0329 a0001c0003t0051g0005 a0001c0003t0102g0214 a0001c0004t0016g0125 a0003c0008t0023g0058 a0003c0008t0023g0059 a0004c0013t0003g0049 a0008c0018t0038g0314	33	338	0.0976	227	c.117 others(248): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGT GGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNJ6_chr21_37602373_37921457	37756937	A A	AGCATGAT others(220): Show AGCATGATGGTTCCAGCCCAAGTGAGCACTCCCTCACAGATTCCAGCCCG GAGTGAGCACTCCCTCACAGTGTGATGATTCCAGCCCGGAGTGAGCTCTC CCTCACAGTGTGATGATTCCAGCCCAGAGTGAGCACTCTCTCACAGTGTG ATGATTCCAGCCCGGAGTGAGCTCTCCCTCACAGCGTGATGATTCCAGCC TGGAGTGAGCACTCCCTCACAGCGTGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00609.hp2 others(39): Show HG00099.hp2 HG00438.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01358.hp2 HG02040.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02486.hp1 HG02486.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG03195.hp2 HG03486.hp2 HG04199.hp2 NA18939.hp1 NA18944.hp1 NA18955.hp1 NA18971.hp1 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp2 NA19060.hp1 NA19062.hp2 NA19091.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0009 a0001c0001t0030 a0001c0001t0032 others(39): Show a0001c0001t0009 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0040 a0001c0001t0044 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0074 a0001c0001t0075 a0001c0001t0077 a0001c0001t0078 a0001c0001t0081 a0001c0001t0089 a0001c0001t0092 a0001c0001t0096 a0001c0001t0098 a0001c0001t0136 a0001c0001t0138 a0001c0001t0164 a0001c0001t0175 a0001c0001t0178 a0001c0001t0179 a0001c0001t0184 a0001c0001t0190 a0001c0002t0011 a0001c0002t0017 a0001c0002t0156 a0001c0003t0048 a0001c0003t0051 a0001c0003t0116 a0001c0003t0121 a0001c0003t0127 a0001c0003t0129 a0001c0003t0130 a0001c0006t0076	a0001c0001t0009g0001 a0001c0001t0030g0130 a0001c0001t0032g0110 others(39): Show a0001c0001t0009g0001 a0001c0001t0030g0130 a0001c0001t0032g0110 a0001c0001t0033g0119 a0001c0001t0039g0021 a0001c0001t0040g0086 a0001c0001t0044g0156 a0001c0001t0046g0133 a0001c0001t0047g0179 a0001c0001t0052g0173 a0001c0001t0053g0060 a0001c0001t0065g0118 a0001c0001t0066g0090 a0001c0001t0068g0152 a0001c0001t0074g0067 a0001c0001t0075g0024 a0001c0001t0077g0042 a0001c0001t0078g0068 a0001c0001t0081g0054 a0001c0001t0089g0187 a0001c0001t0092g0050 a0001c0001t0096g0163 a0001c0001t0098g0105 a0001c0001t0136g0046 a0001c0001t0138g0019 a0001c0001t0164g0171 a0001c0001t0175g0145 a0001c0001t0178g0141 a0001c0001t0179g0079 a0001c0001t0184g0139 a0001c0001t0190g0198 a0001c0002t0011g0003 a0001c0002t0017g0022 a0001c0002t0156g0043 a0001c0003t0048g0082 a0001c0003t0051g0005 a0001c0003t0116g0065 a0001c0003t0121g0125 a0001c0003t0127g0036 a0001c0003t0129g0114 a0001c0003t0130g0185 a0001c0006t0076g0034	42	198	0.2121	227	c.26- others(244): Show c.26-41807_26-41806insATCACGCTGTGAGGGAGTGCTCACTCCA GGCTGGAATCATCACGCTGTGAGGGAGAGCTCACTCCGGGCTGGAATCAT CACACTGTGAGAGAGTGCTCACTCTGGGCTGGAATCATCACACTGTGAGG GAGAGCTCACTCCGGGCTGGAATCATCACACTGTGAGGGAGTGCTCACTC CGGGCTGGAATCTGTGAGGGAGTGCTCACTTGGGCTGGAACCATCATGC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KIAA1958_chr9_112481827_112674397	112514833	G G	GCCCCGTC others(220): Show GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCCGGCCAGCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	308	0.0033	227	c.-25 others(246): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCCCCCGTCCGGGAGGGAGGTGGGGGG G	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(220): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACC CGGCCAGCCCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01192.hp1 others(5): Show HG01081.hp1 HG01081.hp2 HG01192.hp1 HG03225.hp2 HG04184.hp2 NA19030.hp1 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0060 a0001c0002t0064	a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0247 others(5): Show a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0002g0193 a0001c0001t0008g0199 a0001c0001t0060g0205 a0001c0002t0064g0256	8	308	0.0260	227	c.-25 others(246): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCACCCGGCCAGCCCCCCGTCCGGGAGGGAGGTGGGGG G	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(220): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCC GACCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01109.hp2 others(3): Show HG00140.hp1 HG00741.hp1 HG01109.hp2 HG01361.hp2 HG03490.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0002t0047	a0001c0001t0001g0114 a0001c0001t0002g0077 a0001c0001t0003g0068 others(3): Show a0001c0001t0001g0114 a0001c0001t0002g0077 a0001c0001t0003g0068 a0001c0001t0005g0115 a0001c0001t0019g0088 a0001c0002t0047g0079	6	308	0.0195	227	c.-25 others(246): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGACCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG G	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112514853	G G	GGGGGGGT others(220): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCC GGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(78): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00621.hp1 HG00735.hp1 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03540.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18964.hp1 NA18971.hp1 NA18978.hp2 NA18979.hp2 NA18987.hp1 NA18995.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0062 a0001c0001t0070 a0001c0001t0076 a0001c0002t0004 a0001c0002t0014 a0001c0002t0023 a0001c0002t0046 a0001c0002t0050 a0001c0002t0052 a0001c0002t0053 a0001c0003t0017 a0001c0006t0016 a0002c0004t0051 a0002c0004t0056	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(78): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0192 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0001t0003g0062 a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0110 a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0004g0184 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0181 a0001c0001t0009g0069 a0001c0001t0009g0185 a0001c0001t0010g0095 a0001c0001t0010g0178 a0001c0001t0015g0071 a0001c0001t0015g0190 a0001c0001t0016g0020 a0001c0001t0024g0076 a0001c0001t0025g0054 a0001c0001t0025g0055 a0001c0001t0026g0040 a0001c0001t0026g0041 a0001c0001t0030g0059 a0001c0001t0031g0091 a0001c0001t0032g0124 a0001c0001t0036g0015 a0001c0001t0037g0045 a0001c0001t0039g0029 a0001c0001t0041g0084 a0001c0001t0043g0051 a0001c0001t0045g0113 a0001c0001t0062g0087 a0001c0001t0070g0021 a0001c0001t0076g0282 a0001c0002t0004g0023 a0001c0002t0004g0028 a0001c0002t0004g0044 a0001c0002t0004g0082 a0001c0002t0014g0126 a0001c0002t0023g0066 a0001c0002t0046g0003 a0001c0002t0050g0083 a0001c0002t0052g0191 a0001c0002t0053g0043 a0001c0003t0017g0039 a0001c0003t0017g0085 a0001c0003t0017g0189 a0001c0006t0016g0116 a0002c0004t0051g0182 a0002c0004t0056g0030	81	308	0.2630	227	c.-25 others(246): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG G	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	167997362	G G	GGCGGGGG others(220): Show GGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGG GGCGGGGGAATCTGCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0278 a0001c0001t0008g0278	1	375	0.0027	227	c.-21 others(238): Show c.-2107_-2106insGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGA ATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		308		chr6	TogoVar
KIF27_chr9_83829099_83926432	83848132	C C	CATATATA others(220): Show CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATATCATATATATGATATATCATATATATCATATATATGATATAT CATATATATCATATATATGATATATCAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	346	0.0029	227	c.355 others(246): Show c.3556+1966_3556+1967insATGATATATCATATATATGATATATA TGATATATCATATATATGATATATATGATATATCATATATATGATATATA TGATATATCATATATATCATATATATGATATATCATATATATCATATATA TGATATATCATATATATCATATATATGATATATCATATATATCATATATA TGATATATCATATATATCATATATATGATATATCATATATATCATATATA T	KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17			chr9	TogoVar
LHFPL3_chr7_104323603_104913561	104824192	T T	TATTATAT others(220): Show TATTATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATATTATATATTATATATATAATATATATTATATATTATA TATAATATATTATATATTATATATTATATATATAATATATTATATATTAT ATATATATTATATTATATATTATATATAATTATATATATTTTATATATTA TATATTATATATTATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	86	0.0116	227	c.683 others(246): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATATATTATATTATATATTATATAT AATTATATATATTTTATATATTATATATTATATATTATATATTATATATT A	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LMF1_chr16_848634_975984	955458	G G	GGGGTCTA others(220): Show GGGGTCTATGCACACACACACACACACACACACATCTAAGTGAACCAGAC ACGTTACATAAAATGCGTGCCTGCAGCAGATGCGGTGTGTGCACACACAC ACACACATCTAAGTAAACCAGACACGTTACATAAAATGCGTGCCTGCAGC AGACGTAGTGTGTGCATCCACACACACACATCTAAGTAAACTAGACACGT TACATAAAATGCGTGCCCGCAGCAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG01081.hp1 others(7): Show HG00140.hp1 HG00323.hp2 HG01081.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG02976.hp1 HG03130.hp2 HG03516.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0005 a0002c0007 a0002c0054 others(1): Show a0001c0005 a0002c0007 a0002c0054 a0009c0024	a0001c0005t0001 a0001c0005t0012 a0002c0007t0001 others(2): Show a0001c0005t0001 a0001c0005t0012 a0002c0007t0001 a0002c0054t0001 a0009c0024t0001	a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 others(7): Show a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0012g0110 a0002c0007t0001g0120 a0002c0054t0001g0114 a0009c0024t0001g0117 a0009c0024t0001g0118	10	294	0.0340	227	c.194 others(242): Show c.194-793_194-792insTCTCTGCTGCGGGCACGCATTTTATGTAAC GTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGC TGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGT GTGTGTGCACACACCGCATCTGCTGCAGGCACGCATTTTATGTAACGTGT CTGGTTCACTTAGATGTGTGTGTGTGTGTGTGTGTGTGCATAGACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955458	G G	GGGGTCTG others(220): Show GGGGTCTGTGCGCACACACACACACACACACACATCTAAGTGAACCAGAC ACGTTACATAAAATGCGTGCCTGCAGCGGATGCGGTGTGTGCATACACAC ACACACATCTAAGTAAACCAGACACGTTACATAAAATGCGTGCCTGCAGC AGACGTAGTGTGTGCATCCACACACACACATCTAAGTAAACTAGACACGT TACATAAAATGCGTGCCCGCAGCAGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	294	0.0034	227	c.194 others(242): Show c.194-793_194-792insTCTCTGCTGCGGGCACGCATTTTATGTAAC GTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACACACTACGTCTGC TGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTTAGATGTGTGTGT GTGTATGCACACACCGCATCCGCTGCAGGCACGCATTTTATGTAACGTGT CTGGTTCACTTAGATGTGTGTGTGTGTGTGTGTGTGCGCACAGACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(220): Show CACACACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAA ATGCGTGCCTGCAGCAGATGCAGTGTGTGCATACACACACACACATCTAA GTAAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTG TGCATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGC GTGCCCGCAGCAGAGACGGTGTGTGCGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0010 a0010c0047t0010	a0010c0047t0010g0281 a0010c0047t0010g0281	1	294	0.0034	227	c.194 others(242): Show c.194-807_194-806insACGCACACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACTGCATCTGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(220): Show CACACACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAA ATGCGTGCCTGCAGCAGATGCGGTGTGTGCATACACACACACACATCTAA GTAAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTG TGCATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGC GTGCCCGCAGCAGAGACGGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03579.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0006t0001 a0001c0006t0002	a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 others(8): Show a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0011g0292 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0001g0290 a0001c0006t0002g0282 a0001c0006t0002g0283	11	294	0.0374	227	c.194 others(242): Show c.194-807_194-806insACGCACACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACCGCATCTGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(220): Show CACACACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAA ATGCGTGCCTGCAGCGGATGCGGTGTGTGCATACACACACACACATCTAA GTAAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTG TGCATCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGC GTGCCCGCAGCAGAGACGGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0002 a0003c0030t0002	a0003c0030t0002g0008 a0003c0030t0002g0008	1	294	0.0034	227	c.194 others(242): Show c.194-807_194-806insACGCACACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACCGCATCCGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC74A_chr14_76821408_76875304	76867164	G G	GGTGTGTG others(220): Show GGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGGTAGTGTGTGTGTGG GTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTGTG TGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGGTGGGG TGTGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTGGTAGTG TGTGGGGGGGTGTGTGTTTTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03209.hp2 HG03579.hp1 HG02559.hp2 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0020 a0001c0005t0005g0029 a0001c0005t0005g0030 a0001c0005t0005g0020 a0001c0005t0005g0029 a0001c0005t0005g0030	3	408	0.0074	227	c.130 others(244): Show c.1309-185_1309-184insTGTTGGGGGGTGGGGTGTGTGTGTGTGG TAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTG GGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGT GTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGTGTGTTGGGGGATGGGGTG TGTGTGTGGTAGTGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGTGTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
MAGI3_chr1_113385515_113690923	113416007	T T	TATATTAA others(220): Show TATATTAATTATATAATTAATTACATATATTAATTATGTAATTAATGACA CATATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACA CATATTAATTATGTAATTAATGACACATATTAATTATGTAATTAATGACA CATATTAATTATGTAATTAATGACACATATTATTATGTGTAATTAATGAC ACATATTATTATGTGTAATTAATGACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	236	0.0042	227	c.316 others(246): Show c.316+24669_316+24670insATAATTAATTACATATATTAATTATG TAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTATG TAATTAATGACACATATTAATTATGTAATTAATGACACATATTAATTATG TAATTAATGACACATATTAATTATGTAATTAATGACACATATTATTATGT GTAATTAATGACACATATTATTATGTGTAATTAATGACACATATTAATTA T	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579087	T T	TCACCACC others(220): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCATCAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18959.hp2 NA19082.hp1 NA18944.hp1 NA18959.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231	3	362	0.0083	227	c.391 others(242): Show c.391+594_391+595insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCATCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579111	T T	TCACCACC others(220): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCCTTCACCAC CACCACCACCACCACCACCATCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCATCACCACCATCACCACCAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	362	0.0028	227	c.391 others(242): Show c.391+618_391+619insCCACCACCACCACCACCACCATCACCACCA CCACCCTTCACCACCACCACCACCACCACCACCATCACCACCACCACCCT TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAPRE3_chr2_26965637_27032219	26975632	A A	AAAGGGGA others(220): Show AAAGGGGAACTTTTACTTTATATGTTTTTGTATTTGACTTGTTATAAGAA GCATGTATGCTTTAGTCATTTAATGAAGACCAAATAGAATGGGTAGTGAT TGTTGTTCAGTAAATACATTTTGGTACAAAAGAAGCAGCTGCCTTTACTT GGAGCCTCCCATGCCTGGGGCAAATAGGGTTTGACAGCTTCAAGCAGGCC CAGGCAGTTTGCACCAAATCAAGCTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp1 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0240 a0001c0001t0001g0241	2	258	0.0078	227	c.-8+ others(242): Show c.-8+4834_-8+5060dupGGGAACTTTTACTTTATATGTTTTTGTATT TGACTTGTTATAAGAAGCATGTATGCTTTAGTCATTTAATGAAGACCAAA TAGAATGGGTAGTGATTGTTGTTCAGTAAATACATTTTGGTACAAAAGAA GCAGCTGCCTTTACTTGGAGCCTCCCATGCCTGGGGCAAATAGGGTTTGA CAGCTTCAAGCAGGCCCAGGCAGTTTGCACCAAATCAAGCTCTTAAG	MAPRE3	ENSG00000084764.12	transcript	ENST00000233121.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(220): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp1 HG01884.hp1 others(1): Show HG01071.hp2 HG01109.hp1 HG01884.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0025 a0001c0002t0002	a0001c0001t0001g0035 a0001c0001t0014g0066 a0001c0001t0025g0101 others(1): Show a0001c0001t0001g0035 a0001c0001t0014g0066 a0001c0001t0025g0101 a0001c0002t0002g0092	4	102	0.0392	227	c.111 others(246): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGCGCGATC TCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGCATCTTT T	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9			chr4	TogoVar
MBTPS1_chr16_84048763_84121942	84051479	C C	CATGTGGG others(220): Show CATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGAGTAAGGAGAGCTGCA AGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAG AGTGGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGC GTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCC ATGTGGGTAAGGAGAGCTGCAAGGCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	424	0.0024	227	c.29 others(238): Show c.2969_*2970insACGGCCTTGCAGCTCTCCTTACCCACATGGGGCC TTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACGCACAT GCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGCCTTGCCACTCTCCTT ACCCACATGTGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGC TCTCCTTACTCACATGCGGCCTTGCAGCTCTCCTTACCCACAT	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2283		chr16	TogoVar
MBTPS1_chr16_84048763_84121942	84052010	G G	GCAAGGCC others(220): Show GCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTAA GGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATGT GGGTAAGGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGCC GCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCGGC AAGGCCCGCATGTGGGTAAGGAGAGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01884.hp1 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0252 a0001c0001t0023g0253 a0001c0001t0023g0252 a0001c0001t0023g0253	2	424	0.0047	227	c.24 others(238): Show c.2438_*2439insTAGCTCTCCTTACCCACATGCGGGCCTTGCCGCT CTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTT GCAGCTCTCCTTACCCACATACGGCCTTGCAGCTCTCCTTACCCACATGG GGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACGC ACATGCGGGCCTTGTAGCTCTCCTTACCCACATGCGGGCCTTG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		1752		chr16	TogoVar
MCTP2_chr15_94226561_94488952	94464261	A A	ATATATAT others(220): Show ATATATATATTATATATATATAATATATATATATATTATATATATATTAT ATATATATATTATATATATATAATATATATATATATTATATATATATAAT ATATATATATATTATATATATATTATATATATATATTATATATATATAAT ATATATATATTATATATATATTATATATATATTATATATATATTATATAT ATAATATATATATATTATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0108 a0001c0005t0021g0108	1	276	0.0036	227	c.236 others(246): Show c.2360+6024_2360+6025insTATATATATATAATATATATATATAT TATATATATATTATATATATATATTATATATATATAATATATATATATAT TATATATATATAATATATATATATATTATATATATATTATATATATATAT TATATATATATAATATATATATATTATATATATATTATATATATATTATA TATATATTATATATATAATATATATATATTATATATATATATTATATATA T	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
METRNL_chr17_83074609_83100122	83090485	A A	ACCCCCGC others(220): Show ACCCCCGCCCCACACACACACACCCCCCGCCCCACACACACACACCCCCG CCCCGCCCCAGGGTGGGAGCCACACACACACACCCCCCGCCCCACACACA CACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCC CGCCCCACACACACACACCCCCCGCCCCACACACACACACCCCCGCCCTG CCCCAGGGTGGGAGCCACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0189 a0001c0001t0007g0189	1	399	0.0025	227	c.557 others(244): Show c.557-2656_557-2655insCGCCCCACACACACACACCCCCGCCCCG CCCCAGGGTGGGAGCCACACACACACACCCCCCGCCCCACACACACACAC CCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCCGCCC CACACACACACACCCCCCGCCCCACACACACACACCCCCGCCCTGCCCCA GGGTGGGAGCCACACACACACACCCCCCGCCCCACACACACACACCCCC	METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237545216	T T	TGGGAGGA others(220): Show TGGGAGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGTGTGGGGGGACAGTGG TGAGTGGGGACAGTGGTGAGTGGGGGGGACAGTGGTTAGTGGGGGGACAG TGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTTAGTGGGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0001 a0026c0040t0001	a0026c0040t0001g0269 a0026c0040t0001g0269	1	286	0.0035	227	c.154 others(246): Show c.1540-1387_1540-1386insAGGACAGTGGTTAGTGGGGGGACAGT GGTGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGAC AGTGTGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGGAC AGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGG ACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGG G	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TTTTCTGA others(220): Show TTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAGTGGT GCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATTCTCC TGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0133 a0001c0003t0005g0133	1	422	0.0024	227	c.670 others(242): Show c.670+787_670+788insTTTCTGAGCCAGGGTCTCTTTCTGTTGCCC CAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCC CGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATTTTT TTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7			chr15	TogoVar
MSLN_chr16_755734_773862	767720	G G	GGGGGCGC others(220): Show GGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGGGGGCGTGGAGGGG GGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGT GGAGGGGGGCGCGTGGAGGGGGGCGCGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	388	0.0026	227	c.159 others(244): Show c.1596+250_1596+251insGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGC GTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGGCG CATGGGGGGGGCGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAG GAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGGCGCGT	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17			chr16	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(220): Show TTTATAATATATAATTTATAATTATAAATTATAAATTATAATATATAATT TATATATTATAAATTTATAATATATAATTTATATATTATAATTTATAATA TATAATTTATATATTATAATTTATAATATATAATTTATAATTATAAGTTA TATATTATAATTTTTAATTATAAGTTATAATATATAACTTATAATTATAA GTTATAATATATAACTTATAATTATAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18948.hp1 NA19070.hp1 HG02970.hp1 NA18948.hp1 NA19070.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0013 a0002c0002 a0008c0013	a0002c0002t0001 a0008c0013t0002 a0002c0002t0001 a0008c0013t0002	a0002c0002t0001g0090 a0002c0002t0001g0092 a0008c0013t0002g0130 a0002c0002t0001g0090 a0002c0002t0001g0092 a0008c0013t0002g0130	3	284	0.0106	227	c.710 others(244): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAATTATAAGTTATATATTATAACTTATAATTAAAAATTATAATATA TAACTTATAATTATAAATTATATATTATAAATTATAATATATAAATTATA TATTATAAATTATAATATATAAATTATATATTATAAATTTATAATATATA AATTATATATTATAATTTATAATTTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(220): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGCGGCGGTGGCAG TAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTAATGATGGTGGTG ACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02155.hp1 NA19060.hp2 others(1): Show HG01496.hp2 HG02155.hp1 NA19060.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0019 a0001c0001t0002 a0002c0002t0019	a0001c0001t0002g0072 a0001c0001t0002g0143 a0001c0001t0002g0148 others(1): Show a0001c0001t0002g0072 a0001c0001t0002g0143 a0001c0001t0002g0148 a0002c0002t0019g0250	4	384	0.0104	227	c.160 others(244): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACCACCATCACCACCACCACCACTA CTGCCACCGCCGCCACCACCACCATCACCACCACCACCATCACCACCACC ACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(220): Show GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGT GGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGG TGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGGTGGTAGTG GTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGT GGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	384	0.0026	227	c.160 others(244): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCATCGCCGCCACCACCACCACCACCATCACCACCACCACCACCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar

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