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
ATP9B_chr18_79064394_79383283	79336102	A A	ACCATGCC others(365): Show ACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCG CCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCG TCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGC TCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCT GGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC CATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp1 HG02717.hp1 others(4): Show HG01496.hp2 HG02145.hp1 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03130.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(4): Show a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0116 a0001c0010t0001g0296	7	298	0.0235	372	c.202 others(389): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGTGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACC AGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336105	A A	ATGCCCTC others(365): Show ATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0119 a0001c0004t0004g0119	1	298	0.0034	372	c.202 others(389): Show c.2029-504_2029-503insTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCC GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(365): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	298	0.0034	372	c.202 others(389): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCAC CATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336167	G G	GTGCCCTC others(365): Show GTGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCG TGTGCACCCTCTGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCC CCAGCACCGCCGTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCC CCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGC ACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCAT GCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTG TGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCC AGCACCGCCGTGTGCACCCTCCA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	298	0.0034	372	c.202 others(389): Show c.2029-429_2029-428insCGTCCCCAGCACCGCCGTGTGCACCCTC TGTGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCC GTGTGCACCCACCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTC CCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGTGCTC CCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGG CACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCG TGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGT GTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	374700	G G	GGAGGGAG others(365): Show GGAGGGAGGGAGGAGGAAGGGAGGGGAGGAGGAAGGGAGGGAGGAGGAGG GAGGGAGGAGGAAGGAGGGAGGGAGGAGGAAGGGAGGGAGGGGAAGGGAG GGAGGGGGGAAGGGAGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGA GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGGGAAGGGA GGGAGGGGGAAGGGAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0001 a0017c0020t0001	a0017c0020t0001g0096 a0017c0020t0001g0096	1	184	0.0054	372	c.784 others(387): Show c.784-760_784-759insAGGGAGGGAGGAGGAAGGGAGGGGAGGAGG AAGGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGAGGGAGGGAGGAGGAAG GGAGGGAGGGGAAGGGAGGGAGGGGGGAAGGGAGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGAGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGAGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGGGGAAGGGAGGGAGGGGGAAGGGAGGGGAGGAG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	375020	G G	GAGGGAGG others(365): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0140 a0002c0002t0003g0140	1	184	0.0054	372	c.784 others(387): Show c.784-434_784-433insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG TGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAG GAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAZ2B_chr2_159313979_159621548	159501205	T T	TTATATAT others(365): Show TTATATATATTATATATATATTTATATATATATATAATATATATATTTAT ATATATATATATTATATATATATTTATATATATATATTATATATATATTT ATATATATATATATATTATATATATTTATATATATATATATTATATATAT ATTTATATATATATATATTATATATATATTTATATATATATATTATATAT ATATTTATATATATATATATTATATATATATTTATATATATATATATTAT ATATATATTTATATATATATATATTATATATATATTTATATATATATATA TTATATATATATTTATATATATATATATTATATATATATTTATATATATA TATATTATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0060 a0001c0008t0001g0060	1	216	0.0046	372	c.-2- others(389): Show c.-2-22485_-2-22484insTATATAAATATATATATAATATATATAT ATATAAATATATATATAATATATATATATATAAATATATATATAATATAT ATATATATAAATATATATATAATATATATATATATAAATATATATATAAT ATATATATATATAAATATATATATAATATATATATATATAAATATATATA TAATATATATATATAAATATATATATAATATATATATATATAAATATATA TATAATATATATATATATAAATATATATAATATATATATATATATAAATA TATATATAATATATATATATAAATATATATATAATATATATATATATAAA TATATATATTATATATATATATAAATATATATATAATATATATA	BAZ2B	ENSG00000123636.19	transcript	ENST00000392783.7	protein_coding	2/36			chr2	TogoVar
BEND3_chr6_107060182_107120515	107096117	T T	TAAACATG others(365): Show TAAACATGCAGGGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCAGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	368	0.0027	372	c.240 others(389): Show c.240+2433_240+2434insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCTGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCACCCCTGCATGTTT	BEND3	ENSG00000178409.14	transcript	ENST00000369042.6	protein_coding	3/3			chr6	TogoVar
BIN2_chr12_51276038_51329174	51326590	T T	TAGAAGTT others(365): Show TAGAAGTTAATTAGATAGGGGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAATAAAATAAAATAAAAAAAAATAATAAAAAAA AATAATAAAAAAAATAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	400	0.0025	372	c.-24 others(383): Show c.-2489_-2488insTTTTTTTTATTTTTTTTATTATTTTTTTTTATTA TTTTTTTTTATTTTATTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCCCCTATCTAATTAACTTCT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding		2417		chr12	TogoVar
C20orf96_chr20_265863_295750	278986	C C	CGGAGGGA others(365): Show CGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGG GAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGA GGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGG GAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGT GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGG GAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGACGGAGGGT GGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGG GAGGGCGGGACGGAGGGACGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp1 HG03225.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0008 a0001c0006 a0002c0008	a0001c0006t0001 a0002c0008t0001 a0001c0006t0001 a0002c0008t0001	a0001c0006t0001g0357 a0002c0008t0001g0267 a0001c0006t0001g0357 a0002c0008t0001g0267	2	410	0.0049	372	c.465 others(387): Show c.465+185_465+186insCTCCGTCCCTCCGTCCCGCCCTCCCTCCGT CCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCC GTCCCTCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGT CCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCC GTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCT CCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCC CTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGT CCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279001	C C	CGGGACGG others(365): Show CGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGAC GGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGG ACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGAC GGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGG AGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAC GGAGGGCGGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGG AGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCG GGACGGAGGGACGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	410	0.0024	372	c.465 others(387): Show c.465+170_465+171insTCCCTCCCTCCGTCCCTCCGTCCCGCCCTC CCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCC TCCCTCCCTCCCGCCCTCCCTCCCTCCCTCCCTCCCGCCCTCCGTCCCTC CCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCC TCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279017	A A	AGGGAGGG others(365): Show AGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAC GGAGGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGG CGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAG GGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAG GGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGG ACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAG GGAGGGAGGGAGGGCGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0240 a0001c0001t0007g0036 a0001c0001t0001g0240 a0001c0001t0007g0036	2	410	0.0049	372	c.465 others(387): Show c.465+154_465+155insGCCCTCCCGCCCTCCCTCCCTCCCTCCGTC CCTCCGTCCCGCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCC TCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTC CCTCCCTCCCTCCCGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCC GCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTC CCTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCC TCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf19_chr4_37448925_37598510	37585417	G G	GGGAGAGG others(365): Show GGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGG GAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGG TGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAAGGGAGGGGAG AGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGG GAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTG AGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAG AGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGAGGAGGG GAGAGGAGAGGTGTTGAGGGAGA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0289 a0002c0002t0004g0289	1	354	0.0028	372	c.-22 others(389): Show c.-22-3425_-22-3424insAGGAGAGGTGTTGAGGGAAGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAAG GGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTT GAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAAGGGAGGGGAGAGGA GAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGG GGAGAGGAGAGGTGTTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGG AGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGTAGAGGAGAGGT ATTGAGGGAGAGGAGGGGAGAGGAGAGGTGTTGAGGGAGAGGAG	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
CABLES2_chr20_62383634_62412285	62397938	A A	ATGGCGGT others(365): Show ATGGCGGTGGTGGTGATGGTGGTGACGGTGGTGATGGTGATGATGGTGAT GGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGG CGATGGTGGTGGTGACGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGCGGTGGTGGTGATGATGGTGATGGTTATGGCGGTGGT GGTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGATGGTGGTGGTGA CGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGCG GTGGTGGTGATGATGGTGATGGTTATGGCGGTGGTGGTGGTGGTGACAGT GATGGTGATGGTGGTGGTGACGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0174 a0004c0007t0003g0174	1	400	0.0025	372	c.363 others(389): Show c.363-1347_363-1346insCCGTCACCACCACCATCACCATCACTGT CACCACCACCACCACCGCCATAACCATCACCATCATCACCACCACCGCCA TCACCACCACCACCACCACCACCACCACCACCGTCACCACCACCGTCACC ACCACCATCGCCATCACCACCATCACCATCACTGTCACCACCACCACCAC CGCCATAACCATCACCATCATCACCACCACCGCCATCACCACCACCACCA CCACCACCACCACCACCGTCACCACCACCGTCACCACCACCATCGCCATC ACCACCATCACCATCACTGTCACCACCACCACCACCGCCATAACCATCAC CATCATCACCATCACCACCGTCACCACCATCACCACCACCGCCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2462201	C C	CGGCTCAG others(365): Show CGGCTCAGCTCTCTGCACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGG CTCAGCTCTCCATACAGGCCTGCGCATCTCCTCGGCCCCCCCTTGGCTCA GCTCTCTGCACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCT CTCCATACAGGCCTGCGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCT GCACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATA CAGGCCTGCGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCTGCACAGG CCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATACAGGCCT GCGCATCTCCTCGGCCCCCCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0020 a0001c0034t0020	a0001c0034t0020g0070 a0001c0034t0020g0070	1	104	0.0096	372	c.757 others(389): Show c.757+4567_757+4568insGCATCTCCTCGGCCCCCCCTTGGCTCAG CTCTCTGCACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTC TCCATACAGGCCTGCGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCTG CACAGGCCTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATAC AGGCCTGCGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCTGCACAGGC CTGCGCACCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATACAGGCCTG CGCATCTCCTCGGCCCCCCCTTGGCTCAGCTCTCTGCACAGGCCTGCGCA CCTCCTTGGCCCCCACCTCGGCTCAGCTCTCCATACAGGCCTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	5/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAPN15_chr16_522712_559636	544729	A A	ACGTCGCC others(365): Show ACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCTCACGTCGCCTCCCCCACGT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0319 a0001c0002t0001g0319	1	410	0.0024	372	c.-22 others(389): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACG TCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544780	T T	TCGTCTCC others(365): Show TCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCGC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0334 a0001c0008t0001g0334	1	410	0.0024	372	c.-22 others(389): Show c.-22-2036_-22-2035insGTCTCCCCCACGTCGCCTCCCCCCACGT CGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCAC GTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC TCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(365): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGG AGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGAG GGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGA CGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	386	0.0026	372	c.803 others(386): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGGAGAGGAGA GGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGAGGGA GAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGAGAGGGAGACG GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGACGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(365): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA GGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGG GAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGA GGGAGACGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp1 HG01109.hp2 others(9): Show HG00323.hp1 HG01070.hp1 HG01109.hp2 HG01255.hp1 HG01891.hp1 HG02004.hp1 HG02040.hp1 HG02735.hp1 HG03239.hp2 HG04184.hp1 NA19079.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0004c0007t0006	a0001c0001t0003g0157 a0001c0001t0003g0172 a0001c0001t0003g0249 others(8): Show a0001c0001t0003g0157 a0001c0001t0003g0172 a0001c0001t0003g0249 a0001c0001t0006g0025 a0001c0001t0006g0095 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0001t0006g0104 a0001c0001t0006g0150 a0001c0001t0011g0094 a0004c0007t0006g0092	12	386	0.0311	372	c.803 others(386): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC77_chr12_396644_447642	419412	T T	TTCCATTA others(365): Show TTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCT CCATTACAATGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACCCTCCATGC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0365 a0003c0003t0004g0365	1	432	0.0023	372	c.413 others(387): Show c.413+789_413+790insGCTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTC CATGCTCCATTACAATGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTC CATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(365): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0042 a0015c0042	a0015c0042t0036 a0015c0042t0036	a0015c0042t0036g0325 a0015c0042t0036g0325	1	334	0.0030	372	c.-25 others(383): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATAAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CELA1_chr12_51323442_51351679	51326590	T T	TAGAAGTT others(365): Show TAGAAGTTAATTAGATAGGGGGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAATAAAATAAAATAAAAAAAAATAATAAAAAAA AATAATAAAAAAAATAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0119 a0001c0002t0002g0119	1	406	0.0025	372	c.19 others(383): Show c.1986_*1987insTTTTTTTTATTTTTTTTATTATTTTTTTTTATTA TTTTTTTTTATTTTATTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCCCCTATCTAATTAACTTCT	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding		1851		chr12	TogoVar
CENPM_chr22_41933737_41952152	41939896	A A	AAGAAAGA others(365): Show AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAAAGAGA AAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGAGAAAGAAAGAAAGA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAGGAAAGAAAGA AAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	258	0.0039	372	c.403 others(387): Show c.403-701_403-700insCTTTCTTTCTCTTTCTTTCTCTTTCTTTCT TTCCTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(365): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATGAATATATATATGAATATATATATATGAATATATATAT ATGAATATATATATGAATATATATATATGAATATATATATATGAATATAT ATATATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	245	0.0041	372	c.124 others(387): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATATTCATATATATATATTCATATATATATTCATATATATA TATTCATATATATATATTCATATATATATTCATATATATATTCATATATA TATATTCATATATATATATTCATATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(365): Show GTGTGTATATATATATATATATGAATATATATCTGAATATATATATGAAT ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGTATATATGAATATATATATGAATATATATATATGAATAT ATATATATGAATATATATATATGAATATATATATGAATATATATATATGA ATATATATATATGAATATATATATATGAATATATATATATGAATATATAT ATATGAATATATATATGAATATATATATATGAATATATATATGAATATAT ATATATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18983.hp1 NA18969.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0052 a0001c0002t0002g0057	2	245	0.0082	372	c.124 others(387): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATATT CATATATATATTCATATATATATATTCATATATATATTCATATATATATA TTCATATATATATATTCATATATATATATTCATATATATATATTCATATA TATATATTCATATATATATTCATATATATATATTCATATATATATATTCA TATATATATATTCATATATATATTCATATATACATATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATTCATATATATTCATATATATATTCATA TATATATTCAGATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CIP2A_chr3_108544864_108594438	108575549	T T	TGTGTGTA others(365): Show TGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACG TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATAC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	372	0.0027	372	c.894 others(387): Show c.894+721_894+722insGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575863	C C	CACGCGTA others(365): Show CACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATACT CATATACATGTGTATATACACGCGTATATATACTCATATACATGAGTATA TACACGCGTATATATACTCATATACATGTGTATATACACGCGTATATATA CTCATATACATGTGTATATACACGCGTATATATACTCATATACATGTGTG TATACACGCGTATATATACTCATATACATGTGTGTATACACGCGTATATA TACTCATATACATGTGTGTATACACGCGTATATATACTCATATACATGTG TGTATACACGTATATATACTCATATACATGTGTGTATATACATGTATATA TACTCATATACATGTGTGTATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0219 a0001c0009t0001g0219	1	372	0.0027	372	c.894 others(387): Show c.894+407_894+408insATATACACACATGTATATGAGTATATATAC ATGTATATACACACATGTATATGAGTATATATACGTGTATACACACATGT ATATGAGTATATATACGCGTGTATACACACATGTATATGAGTATATATAC GCGTGTATACACACATGTATATGAGTATATATACGCGTGTATACACACAT GTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATATAT ACGCGTGTATATACACATGTATATGAGTATATATACGCGTGTATATACTC ATGTATATGAGTATATATACGCGTGTATATACACATGTATATGAGTATAT ATACGCGTGTATATACACATGTATATGAGTATATATACGCGT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CNBD1_chr8_86861415_87387859	87136885	T T	TTTATATT others(365): Show TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTATATATAAATATATATA TTTATATTATATATAAATATATATATTTATATTATAATATAAATATATAT ATTTATATTATAATATAAATATATATATTTATATTATATATAAATTATAT AATTTATATTATATATAAATTATATAATTTATATTATATATAAATATATA TATTTATATTATATATAAATATATATATTTATATTATATATAAATTATAT AATTTATATTATATATAAATATA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	152	0.0066	372	c.432 others(391): Show c.432-69107_432-69106insTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATATATAAATATATATATTTATATTATATATAAATATATATATTT ATATTATAATATAAATATATATATTTATATTATAATATAAATATATATAT TTATATTATATATAAATTATATAATTTATATTATATATAAATTATATAAT TTATATTATATATAAATATATATATTTATATTATATATAAATATATATAT TTATATTATATATAAATTATATAATTTATATTATATATAAATATAT	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(365): Show GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTCG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCGC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0014	a0002c0005t0014g0206 a0002c0005t0014g0206	1	342	0.0029	372	c.844 others(389): Show c.844-1092_844-1091insAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTCGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGG GCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(365): Show GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCGC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCGGGCCGGGGGGCTGACCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0202 a0002c0003t0002g0202	1	342	0.0029	372	c.844 others(389): Show c.844-1092_844-1091insAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCCGGGGG GCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(365): Show GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCGC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp2 others(22): Show HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01496.hp2 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03654.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0007 a0001c0002 a0002c0003 a0002c0007	a0001c0002t0001 a0002c0003t0002 a0002c0007t0002 a0001c0002t0001 a0002c0003t0002 a0002c0007t0002	a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 others(21): Show a0001c0002t0001g0229 a0001c0002t0001g0230 a0002c0003t0002g0007 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0215 a0002c0003t0002g0216 a0002c0003t0002g0217 a0002c0003t0002g0221 a0002c0003t0002g0231 a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0236 a0002c0003t0002g0237 a0002c0003t0002g0240 a0002c0007t0002g0223 a0002c0007t0002g0225 a0002c0007t0002g0226 a0002c0007t0002g0227 a0002c0007t0002g0228 a0002c0007t0002g0232	25	342	0.0731	372	c.844 others(389): Show c.844-1092_844-1091insAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGG GCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(365): Show GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTG AGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTCGC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGCACGGCTGGCCGGGTGGGGGGGCTGACCCCCCACCTCCCTC CCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02976.hp2 NA21309.hp2 HG01361.hp2 HG02976.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0218 a0002c0003t0002g0219 a0002c0003t0002g0220	3	342	0.0088	372	c.844 others(389): Show c.844-1092_844-1091insAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGC CGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGTGGGGGG GCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(365): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATATGATACAA ATGATATATATGATATATATGATATATATCAGATATATATATCATATATA TCATTTGTATCATATATATATCATATATATCATATGTATCATATATATCA TGTATATATCATATATATCATATATATCATATATGTATTCATATATATCA TATATATTCATATATAATATATATTCATATATCATATATATTCATATATA TCATATATATTCATATATATATC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19030.hp1 HG02970.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0009 a0002c0003 a0002c0009	a0002c0003t0002 a0002c0009t0014 a0002c0003t0002 a0002c0009t0014	a0002c0003t0002g0175 a0002c0009t0014g0012 a0002c0003t0002g0175 a0002c0009t0014g0012	2	182	0.0110	372	c.267 others(389): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATATGATACAAATGATATATATGATATATATGATATATATCA GATATATATATCATATATATCATTTGTATCATATATATATCATATATATC ATATGTATCATATATATCATGTATATATCATATATATCATATATATCATA TATGTATTCATATATATCATATATATTCATATATAATATATATTCATATA TCATATATATTCATATATATCATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL23A1_chr5_178232618_178595393	178585669	C C	CACAGCCC others(365): Show CACAGCCCTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCT GGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCC CTGGATGGCGCTGGGGTAATGCCCTACAGCCCTGGATGGCGCTGGGGTAA TGCCCTACAGCCCTGGATGGCGCTGGGGTAACACTCCACAGCCCTGGATG GCGCTGGGGTAACACTCCACAGCCCTGGATGGCGCTGGGGTAACGCCCTA CAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCTGGATGGCGCTGG GGTAACGCCCTACAGCCCTGGATGGCGCTGGGGTAACGCCCTACAGCCCT GGATGGCGCTGGGGTAACGCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	236	0.0042	372	c.294 others(389): Show c.294+4234_294+4235insAGGGCGTTACCCCAGCGCCATCCAGGGC TGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGGCGTTACCCCAGC GCCATCCAGGGCTGTAGGGCGTTACCCCAGCGCCATCCAGGGCTGTAGGG CGTTACCCCAGCGCCATCCAGGGCTGTGGAGTGTTACCCCAGCGCCATCC AGGGCTGTGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACC CCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTG TGGAGTGTTACCCCAGCGCCATCCAGGGCTGTAGGGCATTACCCCAGCGC CATCCAGGGCTGTAGGGCATTACCCCAGCGCCATCCAGGGCTGT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28			chr5	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(365): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGAC ATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGAT CATGGGAAGACGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGAC GTGTGAGGATCATGGGGGGACCCGTGAGGGTCATGGGGGGACGTGAGGAT TGGGGGGACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03453.hp1 HG02970.hp2 HG03453.hp1	a0002 a0031 a0002 a0031	a0002c0001 a0031c0049 a0002c0001 a0031c0049	a0002c0001t0009 a0031c0049t0009 a0002c0001t0009 a0031c0049t0009	a0002c0001t0009g0038 a0031c0049t0009g0122 a0002c0001t0009g0038 a0031c0049t0009g0122	2	128	0.0156	372	c.177 others(389): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGACAT GTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCA TGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGAAGACGT GAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGACCCGTGAGGGTC ATGGGGGGACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE4_chr3_131528569_132040014	131978464	A A	ATTTATAT others(365): Show ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATTTATATATATAT TTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	94	0.0106	372	c.-2+ others(389): Show c.-2+56102_-2+56103insAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRLF2_chrX_1185490_1217649	1198317	C C	CAGGACAC others(365): Show CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCTA GGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGGAAGATA GGACACCCTCCCTCCCACCTCCCGGGAAGACAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCC TCCCTCCCACCTCCCGGGAAGAT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	167	0.0060	372	c.646 others(387): Show c.646+244_646+245insATCTTCCCGGGAGGTGGGAGGGAGGCTGTC CTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAG GGAGGGTGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTC CCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(365): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCACCTCCCGGG AAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGG ACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19082.hp1 NA19011.hp1 NA19082.hp1	a0001 a0024 a0001 a0024	a0001c0001 a0024c0027 a0001c0001 a0024c0027	a0001c0001t0001 a0024c0027t0007 a0001c0001t0001 a0024c0027t0007	a0001c0001t0001g0045 a0024c0027t0007g0068 a0001c0001t0001g0045 a0024c0027t0007g0068	2	167	0.0120	372	c.646 others(387): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(365): Show ATATATATGTGTATATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATATGTGTGTGTATATATATATATATATATATATAT GTGTATATATATATATATATATATGTGTATATATATATATATATATATAT GTGTATATATATATATATATATATATATGTGTATATATATATATATATAT ATATGTGTATATATATATATATATATGTGTATATATATATATATATATGT GTATATATATATATATATATATGTGTATATATATATATATATATGTGTAT ATATATATATATATATGTGTATATATATATATATATATATGTGTATATAT ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0212 a0002c0002t0005g0212	1	334	0.0030	372	c.290 others(387): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATATATGTGTATATATATATATATATATATATATGTGTGTGTATATATA TATATATATATATATATGTGTATATATATATATATATATATGTGTATATA TATATATATATATATATGTGTATATATATATATATATATATATATGTGTA TATATATATATATATATATATGTGTATATATATATATATATATGTGTATA TATATATATATATATGTGTATATATATATATATATATATGTGTATATATA TATATATATATGTGTATATATATATATATATATGTGTATATATATATATA TATATATGTGTATATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(365): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAG GGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAAGGGGAG GGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0191 a0002c0002t0007g0191	1	216	0.0046	372	c.923 others(391): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCT TCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCT CCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATTC CTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCT	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(365): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGGAGGGGAGGG GGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0182 a0002c0002t0007g0182	1	216	0.0046	372	c.923 others(391): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCC TCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCC TTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTCCCCTCCCCCTCCCC TCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCATT CCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK1_chr13_35763652_36136382	35958124	T T	TATAACCA others(365): Show TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA TTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCAC CACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACTA CCACTATGATAACCATCACCACCATCACTGCTATAACCACCACCACCACC ACTATAACCATCACCACCATCACCACTATAACCACCACCACCACTATAAC CACCATCATCACCACCACCACTATAACCACCATCATCATCACCACCACTA CCACTACTGTAACCATCACCACC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0145 a0001c0004t0002g0145	1	230	0.0044	372	c.724 others(391): Show c.724-10668_724-10667insGGTGGTGATGGTTACAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGATGGTGGTT ATAGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGT GGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATCATAGTGGTAG TGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTG GTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAGTAGTGGTAGT GGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATAATGG TGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTAT	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DDX51_chr12_132131594_132149319	132148960	C C	CACACCAC others(365): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC CTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0051 a0002c0002t0035g0051	1	334	0.0030	372	c.-46 others(383): Show c.-4665_-4664insCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTG GTGTGAGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCACTCA CCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCACTCACCGAGGGGA TTAGGGGTGTGGTGTGAGCGAGGCGGCACTCACCGAGGGGATTAGGGGTG TGGTGTGAGCGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAG CGAGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGT	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4642		chr12	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(365): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGTGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp2 HG03579.hp2 HG02622.hp1 HG02970.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0200 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0200	3	345	0.0087	372	c.150 others(393): Show c.1503+10124_1503+10125insAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACACCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	664550	G G	GAGAGGAG others(365): Show GAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCA GCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTG AGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACAC TCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGAC AGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGA GAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGC TATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAG TCCTGGCTCAGCTATTCACACCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	345	0.0029	372	c.150 others(391): Show c.1503+9985_1503+9986insGGGTGTGAATAGCTGAGCCAGGACTC AGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCT GAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCG GTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTC CTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGA GCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(365): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGTGTCACACTCGGTCACTCTA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp2 HG02630.hp2 others(4): Show HG01433.hp2 HG02451.hp2 HG02630.hp2 HG03098.hp1 HG03130.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0240 a0001c0002t0001g0243 others(4): Show a0001c0002t0001g0214 a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0249 a0001c0002t0001g0258	7	345	0.0203	372	c.150 others(391): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DECR2_chr16_396885_417482	397733	T T	TGGGGGTG others(365): Show TGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGA GTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	367	0.0027	372	c.-42 others(383): Show c.-4231_-4230insGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGG GGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4151		chr16	TogoVar
DENND1A_chr9_123374658_123935126	123404933	T T	TACCCTTT others(365): Show TACCCTTTGAGTTTCCAGGACAAGACAAGGAAGGGAAGCAGGCACACACT CCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAG CAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGAC AGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCACCCTTTGAGTTT CCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCCACTTCCTGCCCA CCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACTCC ACTTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAAGGAAGGGAAGCA GGCACACACTCCACTTCCTGCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0115 a0001c0001t0008g0115	1	162	0.0062	372	c.154 others(391): Show c.1543-1444_1543-1443insGGGCAGGAAGTGGAGTGTGTGCCTGC TTCCCTTCCTTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGA GTGTGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGG GCAGGAAGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTCTTGTCCTGGAAA CTCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTTCCCTTCCCTGTC TTGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGTGTGTGCCTGCTT CCCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGAAGTGGAGT GTGTGCCTGCTTCCCTTCCTTGTCTTGTCCTGGAAACTCAAAGGGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DGKD_chr2_233349494_233477098	233397028	C C	CAGAGTGA others(365): Show CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAGGCCAGAG TGAGAGGACACCAGAGGGGACCAGGGTGGCTGGCAGAGGCCAGAGTGAGA GGACACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACA CCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCA GAGGGGACCAGGGTGGCTGGGGGGGGGGGTGTCAGAGTGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACTCCAGAG GGGACCAGGGTGGCTGGGGGGGGGGGGTGCCAGAGTGAGAGGACTCCAGA GGGGACCAGGGTGGCTGGTAGAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp1 HG01496.hp1 HG01071.hp1 HG01109.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0250 a0001c0001t0011g0291 a0001c0001t0011g0292 a0001c0001t0001g0250 a0001c0001t0011g0291 a0001c0001t0011g0292	3	336	0.0089	372	c.348 others(389): Show c.348+6545_348+6546insAGAGTGAGAGGACTCCAGAGGGGACCAG GGTGGCTGGTAGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGG CTGGCAGAGGCCAGAGTGAGAGGACACCAGAGGGGAGCAGGGTGGCTGGC AGAGGCCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGG GGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGG TGTCAGAGTGAGAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGC CAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTG CCAGAGTGAGAGGACTCCAGAGGGGACCAGGGTGGCTGGTAGAG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29			chr2	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GAGGGGAG others(365): Show GAGGGGAGGGGAGAAGAGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGA GGGAGGGGAGGGGAAGGGAGGGAAGGGAGGGAGAGGAGGAGAGAGGAGAG GGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCG GGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCG GAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAG GGGCGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCAGACGGG GAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGC AGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0081 a0001c0022t0002g0081	1	88	0.0114	372	c.158 others(389): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGT CTGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCCGCCCGCCCCTCTC CGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCC CGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCC CTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTC CTCTCTCCTCCTCTCCCTCCCTTCCCTCCCTTCCCCTCCCCTCCCTCCCT CCCCTCCCCTCCCCTCCCCTCTTCTCCCTCTTCTCCCCTCCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar

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