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
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(363): Show GGGAAGGGTAGGGGAGGTGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCAGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01069.hp1 others(11): Show HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG02738.hp2 HG03130.hp1 HG03710.hp1 NA19030.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(11): Show a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181	14	186	0.0753	370	c.565 others(389): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCTGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTC CCCTTCCCCTCCTCTCCTCTTCCCCTCACCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BTBD19_chr1_44803523_44820585	44816624	T T	TTATATAT others(363): Show TTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACA TAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATA TATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGT ATATTATATATACACATAGATGTGTGTGTATATTATATATACACATAGAT GTGTGTATATTATATATACACATAGATGTGTGTATATTATATATACACAT AGATGTGTGTATATATTATATATACACATAGATGTGTGTATATATTATAT ATACACATAGATGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	370	c.28 others(381): Show c.2852_*2853insTATATATACACATAGATGTGTGTGTATATTATAT ATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTA TATTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATG TGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACA CATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTA TATATACACATAGATGTGTGTATATTATATATACACATAGATGTGTGTAT ATTATATATACACATAGATGTGTGTATATATTATATATACACATAGATGT GTGTATATATTATATATACACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1040		chr1	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(363): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCC TGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0111 a0001c0001t0133g0111	1	322	0.0031	370	c.-17 others(381): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCA GCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(363): Show GTCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGTCACTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0124 a0001c0006t0124	a0001c0006t0124g0071 a0001c0006t0124g0071	1	322	0.0031	370	c.-17 others(381): Show c.-1799_-1798insTCCGGGCCCAGCAGTGACGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCAGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410820	G G	GTCTCTGC others(363): Show GTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC CCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT CTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	322	0.0031	370	c.-18 others(381): Show c.-1856_-1855insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1674		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTGC others(363): Show GCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGT CTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA19091.hp1 HG00558.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0106 a0001c0001t0104 a0001c0001t0106	a0001c0001t0104g0089 a0001c0001t0106g0092 a0001c0001t0104g0089 a0001c0001t0106g0092	2	322	0.0062	370	c.-23 others(381): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGAC CCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(363): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACG GATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCTGGATC CTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19088.hp2 HG00609.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0006 a0001c0001t0001g0001 a0001c0001t0006g0006	2	322	0.0062	370	c.-23 others(381): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGTAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2orf80_chr2_208160347_208195030	208176908	T T	TACATATC others(363): Show TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	342	0.0029	370	c.366 others(387): Show c.366+3836_366+3837insGTATGTATACAGATATGTATACGTATGT ATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACAC CTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGT ATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGT ATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTAT ACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGAT ATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTAT ACGTATGTATACACCTATGTATACGTATGTATACAGATATGT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1031657	G G	GCAGAGAC others(363): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGG GAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGG TCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAG AGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGA GGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0246 a0001c0001t0014g0173 a0001c0001t0003g0246 a0001c0001t0014g0173	2	326	0.0061	370	c.130 others(389): Show c.130-21515_130-21514insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCC CCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACT CTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	T T	TCAGGTGC others(363): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0059 a0004c0059	a0004c0059t0022 a0004c0059t0022	a0004c0059t0022g0009 a0004c0059t0022g0009	1	248	0.0040	370	c.226 others(389): Show c.2268-3775_2268-3406dupCAGTTAGGCCACCTGCCCTGATGGAA GTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCA GTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTG CCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGT GGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGT TAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCC CTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGG CCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CBLB_chr3_105650461_105874012	105663074	C C	CTGAGACC others(363): Show CTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGAGACCTTCAC CATGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATCACAGTTACT GCCGTTACTACTTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCT GAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGAGACCTTCACCA TGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATCACAGTTACTGC CGTTACTACTTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGA GACCTTCACCATGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATC ACAGTTACTGCCGTTACTACT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02080.hp2 NA18951.hp2 others(7): Show HG00280.hp2 HG02080.hp2 NA18951.hp2 NA18967.hp2 NA18975.hp2 NA18983.hp2 NA18994.hp1 NA19004.hp1 NA19062.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0289 others(7): Show a0001c0002t0008g0287 a0001c0002t0008g0288 a0001c0002t0008g0289 a0001c0002t0008g0293 a0001c0002t0008g0294 a0001c0002t0008g0295 a0001c0002t0008g0296 a0001c0002t0008g0297 a0001c0002t0008g0299 a0001c0002t0008g0300	10	380	0.0263	370	c.269 others(389): Show c.2690-3846_2690-3845insAGTAGTAACGGCAGTAACTGTGATAG TGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTGAAGGTCTCAGG TAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCAAGTAGTAACGGCAGT AACTGTGATAGTGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTG AAGGTCTCAGGTAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCAGGTA GTAACAGCAGTAACTGTGATAGTGAAGGTCTCAAGTAGTAACGGCAGTAA CTGTGATAGTGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTGAA GGTCTCAGGTAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CCDC77_chr12_396644_447642	419606	A A	AAAATACA others(363): Show AAAATACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG02723.hp2 others(1): Show HG01106.hp2 HG01884.hp2 HG02723.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0341 others(1): Show a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0341 a0003c0003t0001g0342	4	432	0.0093	370	c.413 others(385): Show c.413+973_413+974insTACACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419606	A A	AAAATACA others(363): Show AAAATACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 NA18906.hp2 HG01891.hp1 HG02145.hp2 NA18906.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0007 a0006c0006t0011 a0003c0003t0007 a0006c0006t0011	a0003c0003t0007g0327 a0006c0006t0011g0103 a0006c0006t0011g0106 a0003c0003t0007g0327 a0006c0006t0011g0103 a0006c0006t0011g0106	3	432	0.0069	370	c.413 others(385): Show c.413+973_413+974insTACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421304	T T	TAAAATAC others(363): Show TAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCA TGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0331 a0003c0003t0004g0331	1	432	0.0023	370	c.413 others(387): Show c.413+2671_413+2672insATACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTAC AGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421453	T T	TAAAATAC others(363): Show TAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCAT GCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02723.hp1 HG02896.hp1 others(3): Show HG01346.hp2 HG02723.hp1 HG02896.hp1 HG03041.hp1 HG03516.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0270 a0002c0002t0001g0387 a0003c0003t0001g0095 others(3): Show a0001c0001t0001g0270 a0002c0002t0001g0387 a0003c0003t0001g0095 a0003c0003t0001g0318 a0003c0003t0001g0413 a0003c0003t0001g0415	6	432	0.0139	370	c.413 others(387): Show c.413+2820_413+2821insATACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421453	T T	TAAAATAC others(363): Show TAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCAT GCTCCATTACAGTGCACTTCTGTGTGTGTTTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0289 a0003c0003t0001g0289	1	432	0.0023	370	c.413 others(387): Show c.413+2820_413+2821insATACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTTTG CTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421529	A A	ACACACAT others(363): Show ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTC CATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCC ATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(18): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01943.hp1 HG01993.hp1 HG02698.hp2 HG02735.hp2 HG03490.hp2 HG03688.hp1 HG03831.hp2 NA18946.hp1 NA19012.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0030 a0001c0001t0001g0042 a0001c0001t0001g0132 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0313 a0001c0001t0001g0349 a0001c0001t0001g0364 a0003c0003t0001g0015 a0003c0003t0001g0067	21	432	0.0486	370	c.413 others(387): Show c.413+2893_413+2894insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACA GTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(363): Show CCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACC TTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0096 a0003c0003t0002g0096	1	284	0.0035	370	c.411 others(387): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAG GTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGT GAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGC CGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(363): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01433.hp2 HG01934.hp1 HG01071.hp1 HG01433.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0135 a0001c0001t0001g0182 a0001c0001t0001g0190	3	284	0.0106	370	c.411 others(387): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAG GTGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(363): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAG CCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0157 a0002c0002t0018g0157	1	284	0.0035	370	c.411 others(387): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGG ATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGC AGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(363): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCAC GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	284	0.0035	370	c.411 others(387): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(363): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATTTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19087.hp1 NA18941.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	424	0.0047	370	c.-29 others(387): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATTTTATATAAATATATATATAACATATATATATTTATATAAATATATA TATAACATATATATATATTTATATAAATATATATATAACATATATATATT TATATAAATATATATATAACATATATATATTTATATAAATATATATATAA CATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD247_chr1_167425640_167523529	167434947	C C	CTCCTCCA others(363): Show CTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTC CTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCC TCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCT CCGGAGCCCTCCTCCAGCCCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19054.hp1 NA18971.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0255 a0001c0001t0001g0182 a0001c0001t0001g0255	2	374	0.0054	370	c.336 others(385): Show c.336+451_336+452insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCT GGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGG AGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	442	0.0023	370	c.27 others(381): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	442	0.0023	370	c.27 others(381): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02074.hp1 HG00673.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0020 a0002c0002t0002g0008 a0002c0002t0002g0020	2	442	0.0045	370	c.27 others(381): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(363): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTATA TACACACGTGTGTATATACGTATATACACACGTGTGTATATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	442	0.0023	370	c.27 others(381): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACACGTGTGTATATACGTATATACACACGT GTGTATATACGTATATACACACGTGTGTATATACGTATATACACACGTGT GTATATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATAC GCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDC42EP5_chr19_54460026_54478296	54472914	C C	CCCCCAGC others(363): Show CCCCCAGCCCCTCCTCCCTCAGACTCATGAGTCCAGACCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCATCCCCTCCTC CCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGG GGTCCAGACCCCCAGCCCCTTCTTCCTCAGACCCAGGAGTCAAGACCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCAAGACCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTCAAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	421	0.0024	370	c.-14 others(387): Show c.-142+149_-142+150insTCTTGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGGTCTTGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTC TTGACTCCTGGGTCTGAGGAAGAAGGGGCTGGGGGTCTGGACCCCTGAGT CTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGATGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTGGACTCATGAGTCTGAGGGAGGAGGGGCTGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH4_chr20_61247261_61945617	61944146	A A	ATGAGGAG others(363): Show ATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0087 a0002c0002t0041g0087	1	106	0.0094	370	c.72 others(381): Show c.7203_*7204insTGAGGAGCACTGCGACTGTATGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3530		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944146	A A	ATGAGGAG others(363): Show ATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01433.hp2 others(5): Show HG00408.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp1 HG04115.hp1 HG04204.hp1 NA18906.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 others(5): Show a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0005t0020 a0002c0005t0024	a0002c0002t0004g0077 a0002c0002t0005g0096 a0002c0002t0012g0082 others(5): Show a0002c0002t0004g0077 a0002c0002t0005g0096 a0002c0002t0012g0082 a0002c0002t0016g0075 a0002c0002t0022g0105 a0002c0002t0023g0102 a0002c0005t0020g0056 a0002c0005t0024g0048	8	106	0.0755	370	c.72 others(381): Show c.7203_*7204insTGAGGAGCACTGCGACTGTATGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3530		chr20	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(363): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC GTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACGTAT ATATACTCATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp2 HG02056.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0279 a0001c0001t0009g0258 a0001c0001t0002g0279 a0001c0001t0009g0258	2	372	0.0054	370	c.894 others(385): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACGTATATGAGTATATATACGTGTATATACACACGTATATGAG TATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATA TACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(363): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0260 a0001c0001t0006g0260	1	372	0.0027	370	c.894 others(385): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(363): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	372	0.0027	370	c.894 others(385): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(363): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGA GGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGG AAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0165 a0002c0004t0004g0165	1	216	0.0046	370	c.923 others(389): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCTCCATT CCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX10_chr11_108660069_108945927	108737354	T T	TTATTTCT others(363): Show TTATTTCTTTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	320	0.0031	370	c.196 others(391): Show c.1965+13910_1965+13911insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTATTTCTTTTATTCTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(363): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATACATATATTATATGCATATAATATATACATATA TTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02896.hp2 HG02897.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0011 a0001c0001 a0009c0011	a0001c0001t0005 a0009c0011t0049 a0001c0001t0005 a0009c0011t0049	a0001c0001t0005g0181 a0001c0001t0005g0189 a0009c0011t0049g0111 a0001c0001t0005g0181 a0001c0001t0005g0189 a0009c0011t0049g0111	3	280	0.0107	370	c.126 others(387): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATGTATATATTATATGCATATA ATATATGTATATATTATATGCATATAATATATATGTATATCATATAATAT ATAATATATAATTATATATTATATATCATAATATGTAATATATAATTATA TATTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(363): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATACATATATT ATATGCATATAATATATACATATATTATATGCATATAATATATGTATATA TTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0258 a0001c0007t0005g0258	1	280	0.0036	370	c.126 others(387): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATAC ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATGTATATATTATATGCATATAATATATGTATATATTATATGCATATA ATATATGTATATATTATATGCATATAATATATATGTATATCATATAATAT ATAATATATAATTATATATTATATATCATAATATGTAATATATAATTATA TATTACATATATATATTTTAATATATATAATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(363): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAGGCCAC ACCACACCACACCACACCACACCACGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01243.hp2 others(18): Show HG00642.hp2 HG00741.hp2 HG01243.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0018 a0001c0002t0002 a0001c0002t0008 a0001c0002t0012	a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0041 others(11): Show a0001c0001t0004g0004 a0001c0001t0004g0014 a0001c0001t0004g0041 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0006g0066 a0001c0001t0018g0083 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0089 a0001c0002t0008g0041 a0001c0002t0012g0283 a0001c0002t0012g0313	21	404	0.0520	370	c.510 others(385): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAGGCCACACCACACCACACCACACCACACCACGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DMD_chrX_31114222_33216549	33010003	T T	TGTGTACA others(363): Show TGTGTACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACATG TGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACACA TGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTACA CATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATGTA CACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTATG TACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTGTA TGTACACATGTGTGTGCACATGTGTATGTACACATGTGTGTGCACATGTG TATGTACACATGTGTGTGCAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0035 a0035	a0035c0037 a0035c0037	a0035c0037t0005 a0035c0037t0005	a0035c0037t0005g0082 a0035c0037t0005g0082	1	126	0.0079	370	c.93+ others(387): Show c.93+10135_93+10136insGTGCACACACATGTGTACATACACATGT GCACACACATGTGTACATACACATGTGCACACACATGTGTACATACACAT GTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATACAC ATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACATAC ACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTACAT ACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGTAC ATACACATGTGCACACACATGTGTACATACACATGTGCACACACATGTGT ACATACACATGTGCACACACATGTGTACATACACATGTACAC	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAAAATA others(363): Show AAAAAATATATATATATATATACACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATACATA TATACACATACATATATATATACATATATATATACATATATATATACGTA TATATATATACGTGTATATATATATACATATATATATATACGTGTGTATA TATATACACATATATATATACACGTATATATATACACATATATATATATA CACATATATATATATACACATATATATATATACACACATATATATATATA CACATATATATATATACACATATATATATATACACATATATATATATATA CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0144 a0002c0002t0001g0144	1	266	0.0038	370	c.730 others(389): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATATGTGTGTATATATATATATGTGTATATATATATATGTGTATAT ATATATATGTGTATATATATACGTGTATATATATATGTGTATATATATAC ACACGTATATATATATATGTATATATATATACACGTATATATATATACGT ATATATATATGTATATATATATGTATATATATATGTATGTGTATATATGT ATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGT GTATATATGTATATGTATGTGTGTATATATATATATATATTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AAAATATA others(363): Show AAAATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATATACATATATATATACGTATATATATATACGTGTATATA TATATACATATATATATATATACGTGTGTATATATATACACATATATATA TACACGTATATATATACACACATATATATATACACATATATATATATACA CATATATATATATACACACATATATATATACACATATATATATATACACA TATATATATATATACACATATATATATATATACACATATATATATATATA CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0056 a0056	a0056c0087 a0056c0087	a0056c0087t0001 a0056c0087t0001	a0056c0087t0001g0175 a0056c0087t0001g0175	1	266	0.0038	370	c.730 others(389): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATATGTGTATATATATATATATGTGT ATATATATATATGTGTATATATATATGTGTGTATATATATATATGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATACGTGTATATAT ATATGTGTATATATATACACACGTATATATATATATATGTATATATATAT ACACGTATATATATATACGTATATATATATGTATATATATATGTATATAT ATATGTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGT GTATATATGTATATGTATGTGTATATATATATATATATATATTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(363): Show TTATTGTTACCTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	212	0.0047	370	c.162 others(383): Show c.162+29_162+30insTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	50841728	T T	TTATTGTT others(363): Show TTATTGTTACCTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA19066.hp1 NA18612.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0169 a0001c0001t0001g0125 a0001c0001t0001g0169	2	212	0.0094	370	c.162 others(383): Show c.162+29_162+30insTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTATTGTTACCTTTTCT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATATGTGT others(363): Show ATATGTGTAAATATACCTATGTGTATATTTACACATATATATGTAAATAT ACCTATGTGTATATTTACACATATATATGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATGTAAATATACCT ATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTGTGTTTACACATATATATGTGTAAATATACCTATGT GTGTGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp2 HG01943.hp2 others(2): Show HG00735.hp2 HG01123.hp2 HG01943.hp2 HG03490.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0247 others(2): Show a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0256	5	398	0.0126	370	c.477 others(389): Show c.477+47590_477+47591insATGTGTAAATATACCTATGTGTATAT TTACACATATATATGTAAATATACCTATGTGTATATTTACACATATATAT GTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTATGTGTATGTTTACACATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTGTGTTTACACATAT ATATGTGTAAATATACCTATGTGTGTGTTTACACATATATATGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DTD1_chr20_18583054_18771644	18675822	A A	ATGTAAAT others(363): Show ATGTAAATATACCTATGTGTATGTTTACACATATATATGTAAATATACCT ATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTT ACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATATAT GTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATATAC CTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTTAC ACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAA ATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTATGT GTATGTTTACACATATATATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18968.hp1 NA19003.hp2 others(2): Show NA18947.hp1 NA18968.hp1 NA19003.hp2 NA19011.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 others(2): Show a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0336 a0001c0001t0001g0337	5	398	0.0126	370	c.477 others(389): Show c.477+47610_477+47611insGTTTACACATATATATGTAAATATAC CTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTATGT TTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACATATAT ATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATGTAAATATACCTATGTGTATGTTT ACACATATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGT AAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTAT GTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
EGFL7_chr9_136657916_136677678	136675429	C C	CAGCAGGG others(363): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGGCCA GCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0125 a0001c0001t0005g0125	1	432	0.0023	370	c.31 others(381): Show c.3143_*3144insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGGCCAGCAGGTAGGCTGGGGACTGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2752		chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716082	G G	GTGGTGGG others(363): Show GTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAG GAGGAAGTTGTGGTGGTGTCA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0155 a0001c0006t0001g0155	1	170	0.0059	370	c.86- others(383): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGAGGAG GAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315905	C C	CCACACCC others(363): Show CCACACCCCCTACCACCACCATCACCACCATCCCTATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCTATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCACACACACCCCCTACCA CCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC AGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	250	0.0040	370	c.259 others(389): Show c.259+22111_259+22112insTATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTA GGGGGTGTGTGTGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137329548	T T	TACACGGG others(363): Show TACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGAC TACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGAC TACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGC TACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0053 a0006c0004t0001g0053	1	82	0.0122	370	c.199 others(389): Show c.1999-5406_1999-5405insGACCCCGTGTAGTCCCGTGTAGCCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329576	G G	GTCACACG others(363): Show GTCACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGTCACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACGGG ACTACACGGGACTACACGGGGTCACACGGGACTACACGGGGCTACACGGG ACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGG GCTACACGGGGTCACACGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0053 a0006c0004t0001g0053	1	82	0.0122	370	c.199 others(389): Show c.1999-5434_1999-5433insTCCCGTGTGACCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGCCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGT GTGACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar

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