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
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(763): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAA AACTATATATAGTCACATATGTATATAAAACTATATATAGTTATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATATAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAATTATATACAGTCATATATGTATATAAAACTATATAC AGTCATGTATGTATATAAAACTATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	770	c.-30 others(781): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT CACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATA TATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATA TATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAATTATATACAGTCATATATGTA TATAAAACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATA TGTATATAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATA GTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(763): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAT ATATAGTCACATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAA AACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAATTATATACAGTCATATATGTATATAAAACTATATACAGTCAT GTATGTATATAAAACTATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTAT ATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATAC AGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	770	c.-30 others(781): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATATAGT CATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAATTATATACAGTCATATATGTATATAAA ACTATATACAGTCATGTATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTATG TAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATATACAGTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MAP3K19_chr2_134959491_135052447	135033467	C C	CCCCGGAC others(763): Show CCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTAACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGATGACCCCCCCACCTCC CTCCCGGAAGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCTGGGCAGAGGCCCCCCTCACCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCGCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCCCACCTCCCAGCAGGGGCGGCTGGGCAGAGGCGCCCCC CACCCCCCGGACGGGGCGGCCGGCCGTGGGGGCTAACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT GGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCTGGC GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGAAGGGGTGGCTGGCCGGGCGGG GGCTGACCCCCCCACCTCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01952.hp1 HG01978.hp2 others(24): Show HG00438.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02083.hp2 HG02280.hp1 HG02486.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18963.hp2 NA18967.hp1 NA18971.hp1 NA18986.hp2 NA18992.hp1 NA18999.hp2 NA19007.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0012 a0022	a0001c0001 a0001c0002 a0002c0003 others(5): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0006 a0005c0007 a0012c0017 a0022c0031	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0013 a0003c0004t0003 a0004c0006t0001 a0005c0007t0006 a0012c0017t0003 a0022c0031t0002	a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 others(24): Show a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0071 a0001c0001t0002g0024 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0055 a0001c0002t0001g0056 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0013g0072 a0003c0004t0003g0027 a0003c0004t0003g0048 a0004c0006t0001g0007 a0005c0007t0006g0008 a0005c0007t0006g0010 a0005c0007t0006g0011 a0012c0017t0003g0026 a0022c0031t0002g0054	27	334	0.0808	770	c.-28 others(789): Show c.-283-2968_-283-2967insAGGGAGGTGGGGGGGTCAGCCCCCGC CCGGCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAG GCCAGCCACCCCTTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCAGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTTAGCCCCCACGGCCGGCCGCCCCGTCCGGGGGGTGGGGGG CGCCTCTGCCCAGCCGCCCCTGCTGGGAGGTGGGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGCGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCATCCGGGAGGTGAGGGGGGCCTCTGCCCAGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCGCCCGGCCAGCCACCCCTTCCGGGAGGGAGG TGGGGGGGTCATCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGTTAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	2/12			chr2	TogoVar
MBD3L3_chr19_7051207_7063676	7061789	A A	AATTATAT others(763): Show AATTATATAATATATAATTTATATATAATATAATTATATAATATATAATT TATATATAATATAATTATATAATATATAATTTATATATAATATAATTATA TAATATATAATTTATATATAATATAATTATATAATATATAAATTATATAT AATATAGAATATAATTATATAATATATAATTATATTCTATATAGAATATA ATTATATAATATATAATTATATTCTATAGAATATAATTATATAATATATA ATTATATTCTATAGAATATAATTATATAATATATAATTATATTCTATAGA ATATAATTATATAATATATAATTATATTCTATATTATATAATTATAATAT AATTATATAATATAATTATATTATATATAATTATATTAAATATATTATAT AATATATAATTATATTATATATTATATAATATATAATTATAATTATATAT TATATAATATATAATTATATTATATATTATATAATATATAATTATATTAT ATAATATATAATATATAATATAATTATATATTATATAATATATAATTATA TTATATATTATAATACATTTAATATAATTATATTATAGATTATAATCTAT AATATAATTATATTAATAGTATTATAATATATAATATATTATATATAATT ATATTATAACATATTATATATAATTATATTATAGATCATAATCTATAATA TAATTATATATAATATGTTATAATATATAATTATATTCTATATATAATTA TATATAATATAATTATAATTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	288	0.0035	770	c.-31 others(781): Show c.-3185_-3184insGAATTATAATTATATTATATATAATTATATATAG AATATAATTATATATTATAACATATTATATATAATTATATTATAGATTAT GATCTATAATATAATTATATATAATATGTTATAATATAATTATATATAAT ATATTATATATTATAATACTATTAATATAATTATATTATAGATTATAATC TATAATATAATTATATTAAATGTATTATAATATATAATATAATTATATAT TATATAATATATAATTATATTATATATTATATATTATATAATATAATTAT ATATTATATAATATATAATATAATTATATATTATATAATATATAATTATA ATTATATATTATATAATATATAATATAATTATATATTATATAATATATTT AATATAATTATATATAATATAATTATATTATATAATTATATTATAATTAT ATAATATAGAATATAATTATATATTATATAATTATATTCTATAGAATATA ATTATATATTATATAATTATATTCTATAGAATATAATTATATATTATATA ATTATATTCTATAGAATATAATTATATATTATATAATTATATTCTATATA GAATATAATTATATATTATATAATTATATTCTATATTATATATAATTTAT ATATTATATAATTATATTATATATAAATTATATATTATATAATTATATTA TATATAAATTATATATTATATAATTATATTATATATAAATTATATATTAT ATAATTATATTATATATAAATTATATATTATATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3114		chr19	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(763): Show CCTCCTCTCCTCCTCCTCTCCCCCTCCCCTCCCCTCCCTCTCCTCTCTCC CCCTCACCCTCCCCTCCTCTCTCTCTCCCTCCCCTCCTCCTCTCTCCTCC CTCCCCTCCCCTCCTCTCCTCCTCTCTCCTCCCTCCCCTCCTCCCTCTCC TCCCCTCCCTCTCCCTCCTCTCCTCCCTCCCCTCCCCTCTCCTCTCTCTC CCTCCCCTCTCCCTCTCCCTCCCCTCTCCCTCCTCCTCCGCTCCCCCTCT CCTCCTCTCCTCTCTCCTCCTTCCCCTCTCCTCCTCCTCCTCCTCTCCTC CCTTCCCCTCTCCTCCCTCCTCACCCTCCCCTCTCTCCGTCTCCTCTCCC CTCTCCCTCTCTCCTTCCTCTCCCTCCCCTCTCCTCCTCGTCCTCTCCCC TCACCTTCCCCTCTCTCCTCTCTCCTCCTCTCCTCCCGCTCCCTCCCCCT CCTCCCTCCTCCGCTCCTCTCTCCTCCCCTTCCCCCTCCTCCTCCTCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCCTGCCCTCTCCCCTCTCCCCTCC TCTCCCTCCTCCTCCTCTCTCCTCCCTCTCCTCCTCCCCTCTCCTCCACT CCTCTCCCCTCTCCCTCCTCACTCCTCTCCCCTCCTCCTCCTCTCCTCCC CACTCCTCTCCCCCTCCTCTCCTCTCTCCTCCTCCCTCTCCTCCCTCCCC ACCCTCCCCTCCCCTCCTTTTCTCTCCCTCCCCACGGCTCCCCTCCCCTC CTTTCTCCTCCCTTGCCGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	318	0.0031	770	c.-49 others(781): Show c.-4998_-4997insAGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGAG CCGTGGGGAGGGAGAGAAAAGGAGGGGAGGGGAGGGTGGGGAGGGAGGAG AGGGAGGAGGAGAGAGGAGAGGAGGGGGAGAGGAGTGGGGAGGAGAGGAG GAGGAGGGGAGAGGAGTGAGGAGGGAGAGGGGAGAGGAGTGGAGGAGAGG GGAGGAGGAGAGGGAGGAGAGAGGAGGAGGAGGGAGAGGAGGGGAGAGGG GAGAGGGCAGGAGGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGAGGAGG AGGGGGAAGGGGAGGAGAGAGGAGCGGAGGAGGGAGGAGGGGGAGGGAGC GGGAGGAGAGGAGGAGAGAGGAGAGAGGGGAAGGTGAGGGGAGAGGACGA GGAGGAGAGGGGAGGGAGAGGAAGGAGAGAGGGAGAGGGGAGAGGAGACG GAGAGAGGGGAGGGTGAGGAGGGAGGAGAGGGGAAGGGAGGAGAGGAGGA GGAGGAGGAGAGGGGAAGGAGGAGAGAGGAGAGGAGGAGAGGGGGAGCGG AGGAGGAGGGAGAGGGGAGGGAGAGGGAGAGGGGAGGGAGAGAGAGGAGA GGGGAGGGGAGGGAGGAGAGGAGGGAGAGGGAGGGGAGGAGAGGGAGGAG GGGAGGGAGGAGAGAGGAGGAGAGGAGGGGAGGGGAGGGAGGAGAGAGGA GGAGGGGAGGGAGAGAGAGAGGAGGGGAGGGTGAGGGGGAGAGAGGAGAG GGAGGGGAGGGGAGGGGGAGAGGAGGAGGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(763): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCCTCCCTTCCCCTCCCCCTCCTCCTCCCCTCCCCTCCCCTCCCCT CTTCCCCTCCCCTCCCCTCCCCCCACCCCTCCCTTCCCCTCCCCTTCCCT CCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTC CCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCA TTCCATCCCCCTTCCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCC TCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCT TCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCC CTCCCTCCCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCC CTCCCCTCTCCTCTCCCCCTCCCCACCCCTCCCCTTCCCCTCCCCACCTC CCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCCACTCCTCCTCTCCCCTC CTCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0104 a0002c0004t0001g0104	1	278	0.0036	770	c.115 others(787): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCCCCTCCCCTCC CCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCC CCTCCACCCCTCCCTTCCCCTCCCCCTCCTCCTCCCCTCCCCTCCCCTCC CCTCTTCCCCTCCCCTCCCCTCCCCCCACCCCTCCCTTCCCCTCCCCTTC CCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCC CTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTC CCATTCCATCCCCCTTCCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTC CCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTC CCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTT CCCCTCCCTCCCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCT TCCCTCCCCTCTCCTCTCCCCCTCCCCACCCCTCCCCTTCCCCTCCCCAC CTCCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCCACTCCTCCTCTCCC CTCCTCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(763): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGG GAGGGGCAGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGGAAAAGGGGC GGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTG AGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGAGGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGA GGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGG GGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGAGGGTGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGA GGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAG GGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGA GGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0206 a0002c0002t0002g0206	1	272	0.0037	770	c.250 others(785): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCACCCTCCCCCTCCCCCCTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTT CCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTT CCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCC CCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGTGTGGA others(763): Show GGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGC ATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGA GGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGG AGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGG CGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGA GGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGT GCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGG GTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCA TGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGA GGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGTGCGTGGAGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	388	0.0026	770	c.159 others(787): Show c.1596+242_1596+243insTGTGGAGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAG GAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCG CGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGG TGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCAT GGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGG GGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCG CGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGG GGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGT GTGGAGGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGG GCGCATGGGGGGGTGTGGAGGGGGGTGCGTGGAGGAGGGGCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO7A_chr11_77123246_77220241	77193256	G G	GTGGTGGT others(763): Show GTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGTACTGATGAT GGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAG TTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGC GATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGG TAGTGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATAT TGGAGGTAGGGATGATGTTAGTGATGGTGGTGGTGGTGGTGATGGTGGAG GTAGTGATGGTGTTGGTACTGATGATGGTGGTGATGGTGGAGGAGGTAGT GATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTG ATGCTGTTGGTGATGGTGGAGGTAGCGATGGTGTTGTTGGTGATGGTGGA GGTGGTGATGGTGTTGATGGTGGGGAGGTAGTGATGGTGTTGGTGATGGT GGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGA TGGTGGAGGTAGTGATGCTGTTGGTGATCGTGGAGGTAGCGATGGTGTTG GTGATGGTGGAGGTAGTGATGGTGTTGTTGGTGATGGTGGAGGTGGTGTT GGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAG TGATGTTAGTGATGAGGTATTGTTGGTACTGATGACTATGGTAATATTGG AGGTAGGGATGATGTTAGTGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0183 a0002c0002t0002g0183	1	356	0.0028	770	c.415 others(789): Show c.4152+1018_4152+1019insACTGATGATGGTGGTGATGGTGGAGG AGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTTGTTTGTGATGGTGGA GGTAGTGATGCTGTTGGTGATGGTGGAGGTAGCGATGCTGTTGGTGATCG TGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATG AGGTATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATG TTAGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGT ACTGATGATGGTGGTGATGGTGGAGGAGGTAGTGATGGTGTTGGTGATGG TGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTGGTGATGGT GGAGGTAGCGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGA TGGTGGGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGT TGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATG CTGTTGGTGATCGTGGAGGTAGCGATGGTGTTGGTGATGGTGGAGGTAGT GATGGTGTTGTTGGTGATGGTGGAGGTGGTGTTGGTGTTGGTGATGGTGG AGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGTTAGTGATGAGG TATTGTTGGTACTGATGACTATGGTAATATTGGAGGTAGGGATGATGTTA GTGATGGTGGTGGTGGTGATGGTGGAGGTAGTGATGGTGTTGGT	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
NCKAP5_chr2_132666788_133573463	133504330	G G	GGCACCCC others(763): Show GGCACCCCTGTCCAGCACTTTAGGATCCTCATTGGATGTCTCATCAAAGC ACAGAGGAAGGTTTCTTTGCACAAGAGAGATTAAGTTGCTATTTAAATCA AAGGACCCCAAGCAGAGGGGGGACATGTTTGAGAAGAGCAACTGTAAAAT AGCCACTGAAGCTATGGCACTGAACCCTAAGGAAGATGGTACCTGGGAGT AACCAACCCATCACCATAGGAAAGGAAAACCACGCAGCTCCTCTCAACTC TGAAACGTGCATGAGATATGTGTGGATGGTGCAAATATTAGCAACATGAG CTTTGCAGCAAGACAGACCTTGCTGTTTACAAGTCCTATGACTTTGAACA AGTTATTTAATTCTTGAGCCTCAGTTTCTTCATCTGTACAATGAAGATAT GATAGTGCCTCACTGTAGAGTTGTTGTGAAAATTAAATGAGCTAATACAA ATTAAAAGTTTCAGTCCAGTGCTCTACTGTAATGTTAGTTGCCACATTAT CATCATCAATTCTACTAATTTAAATGAGAATGAAAAACCATATGGAATAT TCTGAGGCCTTCTGGTTATTCAATAACATCATCATCATTATTTCATACAA ATTGAGGGGGGTGTTTAATTGGCCCCACTCTTTCCATCCCAGAATTCCGA GTTCTATTTATGTCAAGCTACTCTGTCCTGAACAACCTGCTGGATATTGG CCTATTTCCCTTCATCAGAACACACTTGTTCTGTGCCTCATTCTCTCAAA GTCCTTTCTCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00673.hp1 others(30): Show HG00408.hp1 HG00408.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02280.hp1 HG02630.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18983.hp1 NA18983.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0015	a0001c0001 a0001c0009 a0001c0015 others(13): Show a0001c0001 a0001c0009 a0001c0015 a0002c0002 a0003c0004 a0003c0020 a0004c0003 a0005c0007 a0005c0018 a0006c0005 a0007c0006 a0008c0008 a0010c0011 a0011c0019 a0012c0026 a0015c0017	a0001c0001t0001 a0001c0001t0004 a0001c0009t0001 others(19): Show a0001c0001t0001 a0001c0001t0004 a0001c0009t0001 a0001c0015t0001 a0002c0002t0001 a0002c0002t0004 a0003c0004t0001 a0003c0004t0006 a0003c0020t0001 a0004c0003t0001 a0004c0003t0002 a0004c0003t0008 a0005c0007t0001 a0005c0018t0002 a0006c0005t0001 a0007c0006t0001 a0008c0008t0002 a0008c0008t0004 a0010c0011t0001 a0011c0019t0003 a0012c0026t0001 a0015c0017t0003	a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0004g0002 others(30): Show a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0004g0002 a0001c0009t0001g0042 a0001c0015t0001g0023 a0002c0002t0001g0040 a0002c0002t0001g0060 a0002c0002t0004g0001 a0002c0002t0004g0004 a0003c0004t0001g0038 a0003c0004t0001g0041 a0003c0004t0001g0058 a0003c0004t0001g0061 a0003c0004t0006g0005 a0003c0020t0001g0024 a0004c0003t0001g0014 a0004c0003t0001g0035 a0004c0003t0001g0064 a0004c0003t0002g0026 a0004c0003t0008g0070 a0005c0007t0001g0012 a0005c0007t0001g0048 a0005c0018t0002g0063 a0006c0005t0001g0059 a0007c0006t0001g0010 a0007c0006t0001g0057 a0007c0006t0001g0062 a0008c0008t0002g0025 a0008c0008t0004g0003 a0010c0011t0001g0008 a0011c0019t0003g0036 a0012c0026t0001g0027 a0015c0017t0003g0033	33	70	0.4714	770	c.69+ others(787): Show c.69+13127_69+13128insATCATCTGGTTGAGAAAGGACTTTGAGA GAATGAGGCACAGAACAAGTGTGTTCTGATGAAGGGAAATAGGCCAATAT CCAGCAGGTTGTTCAGGACAGAGTAGCTTGACATAAATAGAACTCGGAAT TCTGGGATGGAAAGAGTGGGGCCAATTAAACACCCCCCTCAATTTGTATG AAATAATGATGATGATGTTATTGAATAACCAGAAGGCCTCAGAATATTCC ATATGGTTTTTCATTCTCATTTAAATTAGTAGAATTGATGATGATAATGT GGCAACTAACATTACAGTAGAGCACTGGACTGAAACTTTTAATTTGTATT AGCTCATTTAATTTTCACAACAACTCTACAGTGAGGCACTATCATATCTT CATTGTACAGATGAAGAAACTGAGGCTCAAGAATTAAATAACTTGTTCAA AGTCATAGGACTTGTAAACAGCAAGGTCTGTCTTGCTGCAAAGCTCATGT TGCTAATATTTGCACCATCCACACATATCTCATGCACGTTTCAGAGTTGA GAGGAGCTGCGTGGTTTTCCTTTCCTATGGTGATGGGTTGGTTACTCCCA GGTACCATCTTCCTTAGGGTTCAGTGCCATAGCTTCAGTGGCTATTTTAC AGTTGCTCTTCTCAAACATGTCCCCCCTCTGCTTGGGGTCCTTTGATTTA AATAGCAACTTAATCTCTCTTGTGCAAAGAAACCTTCCTCTGTGCTTTGA TGAGACATCCAATGAGGATCCTAAAGTGCTGGACAGGGGTGC	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133504330	G G	GGCACCCC others(763): Show GGCACCCCTGTCCAGCACTTTAGGATCCTCATTGGATGTCTCATCAAAGC ACAGAGGAAGGTTTCTTTGCACAAGAGAGATTAAGTTGCTATTTAAATCA AAGGACCCCAAGCAGAGGGGGGACATGTTTGAGAAGAGCAACTGTAAAAT AGCCACTGAAGCTATGGCACTGAACCCTAAGGAAGATGGTACCTGGGAGT AACCAACCCATCACCATAGGAAAGGAAAACCACGCAGCTCCTCTCAACTC TGAAACGTGCATGAGATATGTGTGGATGGTGCAAATATTAGCAACATGAG CTTTGCAGCAAGACAGACCTTGCTGTTTACAAGTCCTATGACTTTGAACA AGTTATTTAATTCTTGAGCCTCAGTTTCTTCATCTGTACAATGAAGATAT GATAGTGCCTCACTGTAGAGTTGTTGTGAAAATTAAATGAGCTAATACAA ATTAAAAGTTTCAGTCCAGTGCTCTACTGTAATGTTAGTTGCCACATTAT CATCATCAATTCTACTAATTTAAATGAGAATGAAAAACCATATGGAATAT TCTGAGGCCTTCTGGTTATTCAATAACATCATCATCATTATTTCATACAA ATTGAGGGGGGTGTTTAATTGGCCCCACTCTTTCCATCCCAGAATTCCGA GTTCTATTTATGTCAAGCTACTCTGTCCTGAACAACCTGCTGGATATTGG CCTATTTCCCTTCATCAGAACACACTTGTTCTGTGCCTCATTCTCTCAAA GTCCTTTTTCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp1 HG02559.hp2 others(1): Show HG01081.hp1 HG01175.hp1 HG02559.hp2 NA19043.hp1	a0004 a0006 a0013 others(1): Show a0004 a0006 a0013 a0018	a0004c0003 a0006c0005 a0013c0013 others(1): Show a0004c0003 a0006c0005 a0013c0013 a0018c0016	a0004c0003t0001 a0006c0005t0001 a0013c0013t0001 others(1): Show a0004c0003t0001 a0006c0005t0001 a0013c0013t0001 a0018c0016t0001	a0004c0003t0001g0016 a0006c0005t0001g0009 a0013c0013t0001g0043 others(1): Show a0004c0003t0001g0016 a0006c0005t0001g0009 a0013c0013t0001g0043 a0018c0016t0001g0052	4	70	0.0571	770	c.69+ others(787): Show c.69+13127_69+13128insATCATCTGGTTGAAAAAGGACTTTGAGA GAATGAGGCACAGAACAAGTGTGTTCTGATGAAGGGAAATAGGCCAATAT CCAGCAGGTTGTTCAGGACAGAGTAGCTTGACATAAATAGAACTCGGAAT TCTGGGATGGAAAGAGTGGGGCCAATTAAACACCCCCCTCAATTTGTATG AAATAATGATGATGATGTTATTGAATAACCAGAAGGCCTCAGAATATTCC ATATGGTTTTTCATTCTCATTTAAATTAGTAGAATTGATGATGATAATGT GGCAACTAACATTACAGTAGAGCACTGGACTGAAACTTTTAATTTGTATT AGCTCATTTAATTTTCACAACAACTCTACAGTGAGGCACTATCATATCTT CATTGTACAGATGAAGAAACTGAGGCTCAAGAATTAAATAACTTGTTCAA AGTCATAGGACTTGTAAACAGCAAGGTCTGTCTTGCTGCAAAGCTCATGT TGCTAATATTTGCACCATCCACACATATCTCATGCACGTTTCAGAGTTGA GAGGAGCTGCGTGGTTTTCCTTTCCTATGGTGATGGGTTGGTTACTCCCA GGTACCATCTTCCTTAGGGTTCAGTGCCATAGCTTCAGTGGCTATTTTAC AGTTGCTCTTCTCAAACATGTCCCCCCTCTGCTTGGGGTCCTTTGATTTA AATAGCAACTTAATCTCTCTTGTGCAAAGAAACCTTCCTCTGTGCTTTGA TGAGACATCCAATGAGGATCCTAAAGTGCTGGACAGGGGTGC	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NCKAP5_chr2_132666788_133573463	133504330	G G	GGCACCCC others(763): Show GGCACCCCTGTCCAGCACTTTAGGATCCTCATTGGATGTCTCATCAAAGC ACAGAGGAAGGTTTCTTTGCACAAGAGAGATTAAGTTGCTATTTAAATCA AAGGACCCCAAGCAGAGGGGGGACATGTTTGAGAAGAGCAACTGTAAAAT AGCCACTGAAGCTATGGCACTGAACCCTAAGGAAGATGGTACCTGGGAGT AACCAACCCATCACCATAGGAGAGGAAAACCACGCAGCTCCTCTCAACTC TGAAACGTGCATGAGATATGTGTGGATGGTGCAAATATTAGCAACATGAG CTTTGCAGCAAGACAGACCTTGCTGTTTACAAGTCCTATGACTTTGAACA AGTTATTTAATTCTTGAGCCTCAGTTTCTTCATCTGTACAATGAAGATAT GATAGTGCCTCACTGTAGAGTTGTTGTGAAAATTAAATGAGCTAATACAA ATTAAAAGTTTCAGTCCAGTGCTCTACTGTAATGTTAGTTGCCACATTAT CATCATCAATTCTACTAATTTAAATGAGAATGAAAAACCATATGGAATAT TCTGAGGCCTTCTGGTTATTCAATAACATCATCATCATTATTTCATACAA ATTGAGGGGGGTGTTTAATTGGCCCCACTCTTTCCATCCCAGAATTCCGA GTTCTATTTATGTCAAGCTACTCTGTCCTGAACAACCTGCTGGATATTGG CCTATTTCCCTTCATCAGAACACACTTGTTCTGTGCCTCATTCTCTCAAA GTCCTTTCTCAACCAGATGAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	70	0.0143	770	c.69+ others(787): Show c.69+13127_69+13128insATCATCTGGTTGAGAAAGGACTTTGAGA GAATGAGGCACAGAACAAGTGTGTTCTGATGAAGGGAAATAGGCCAATAT CCAGCAGGTTGTTCAGGACAGAGTAGCTTGACATAAATAGAACTCGGAAT TCTGGGATGGAAAGAGTGGGGCCAATTAAACACCCCCCTCAATTTGTATG AAATAATGATGATGATGTTATTGAATAACCAGAAGGCCTCAGAATATTCC ATATGGTTTTTCATTCTCATTTAAATTAGTAGAATTGATGATGATAATGT GGCAACTAACATTACAGTAGAGCACTGGACTGAAACTTTTAATTTGTATT AGCTCATTTAATTTTCACAACAACTCTACAGTGAGGCACTATCATATCTT CATTGTACAGATGAAGAAACTGAGGCTCAAGAATTAAATAACTTGTTCAA AGTCATAGGACTTGTAAACAGCAAGGTCTGTCTTGCTGCAAAGCTCATGT TGCTAATATTTGCACCATCCACACATATCTCATGCACGTTTCAGAGTTGA GAGGAGCTGCGTGGTTTTCCTCTCCTATGGTGATGGGTTGGTTACTCCCA GGTACCATCTTCCTTAGGGTTCAGTGCCATAGCTTCAGTGGCTATTTTAC AGTTGCTCTTCTCAAACATGTCCCCCCTCTGCTTGGGGTCCTTTGATTTA AATAGCAACTTAATCTCTCTTGTGCAAAGAAACCTTCCTCTGTGCTTTGA TGAGACATCCAATGAGGATCCTAAAGTGCTGGACAGGGGTGC	NCKAP5	ENSG00000176771.18	transcript	ENST00000409261.6	protein_coding	3/19			chr2	TogoVar
NFATC1_chr18_79390930_79534323	79494355	G G	GCCCCCCA others(763): Show GCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGAACGGGCACACGCCC CCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAA CCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGT GTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTACCG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCGACCTGGTGTGGCCG GGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCGGG GGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCCGGGGG AAGGCGAGAGCGGGCACACGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01975.hp2 HG02148.hp2 others(1): Show HG01496.hp1 HG01975.hp2 HG02148.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0027 a0003c0007 a0001c0027 a0003c0007	a0001c0027t0008 a0003c0007t0002 a0003c0007t0008 a0001c0027t0008 a0003c0007t0002 a0003c0007t0008	a0001c0027t0008g0013 a0003c0007t0002g0014 a0003c0007t0008g0017 others(1): Show a0001c0027t0008g0013 a0003c0007t0002g0014 a0003c0007t0008g0017 a0003c0007t0008g0032	4	322	0.0124	770	c.278 others(789): Show c.2782+7427_2782+7428insAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGA ACGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGG GCACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCG ACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGAC CTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCT GGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NTM_chr11_131365615_132341822	131680897	G G	GTGTGTGT others(763): Show GTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGT ATGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGC ATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGT TTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCT GTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTGT ATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCC CTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGT GTGTGTGAGCGTGTGTGTTTCTGTGTCTGTCTCCCTGTGTGTGTGAGCAT GTGTGTTTCTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCT GTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGT CTGTGTGTATATCTCCCTGTGTATGTGAGCTTGTTTCTGTGTCTGTGTGT ATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCC CTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGT GAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGT GTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGT TTCTGTGTCTGTATGTCTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	86	0.0116	770	c.83- others(789): Show c.83-230656_83-230655insGTGTGTGTTTCTGTGTCTGTGTGTAT ATCTCCCTGTGTATGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCT GTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGT GAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGC GTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGT TTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGT CTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGT ATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTCTCCCTGT GTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTCCCTGTGTGTGTGAGC GTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGT GTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTATGTGAGCTTGTTTCT GTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGT CTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTGTATGT CTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGT GTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGT GAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	841610	A A	AGCGCATC others(763): Show AGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCAC ACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACGCCGGCGAGCAG GTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGAC CACAGCGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCG CATCTCATGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCAC GGCGCATCTCATGCCGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCA CATGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCACGGGC AGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATC TCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0134 a0001c0001t0029g0134	1	242	0.0041	770	c.361 others(789): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCG TGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCATGTGAGA TGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCATGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCATGAGATGCGCTG TGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGG ACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATG CGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCTGTGGTCGG GGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCT CGCCGGCGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAG ATGCTCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	949166	G G	GGCCTCCT others(763): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCC CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCGCGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGC CTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCC CGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCC GCGGCCTCCTCCTCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	242	0.0041	770	c.360 others(789): Show c.360+30152_360+30153insAGGGGGAGAGGAGGAGGCCGCGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAG AGGAGGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGG GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCGC GGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGG AGGCCGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAG AGGAGGAGGCAGGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCA GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83950924	C C	CATGCACA others(763): Show CATGCACACATGAGCACATGTGCACACATGCACGTACATACTGGCACACG TACACACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACGCACACATGAGCACATGTGCACACATGCACATACACACTGG CACACACGTACACACACACGCACACATGAGCACATGTGCACACATGCACA CACATGCACACATGAGCACATGTGCACACATGCACACATGAGCACATGTG CACACATGCACATACATACTAGCACACACGTACACACACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACGTACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACA CACATACACACATGAGCACATGTGCACACATGCACATACATACTGGCACA CACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACGTACACACACGCACACATGGGCACATGTGCACACATGCACATACA TACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACACACATGCACACATGAGCACATGTGCACACA TGCACATACATACTGGCACACACGTACGCACATGTGCACACATGCACATA CATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCA CATACATACTGGCACACACGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0183 a0001c0002t0003g0183	1	350	0.0029	770	c.-24 others(781): Show c.-2479_-2478insATGCACACATGAGCACATGTGCACACATGCACGT ACATACTGGCACACGTACACACGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACACAT GCACATACACACTGGCACACACGTACACACACACGCACACATGAGCACAT GTGCACACATGCACACACATGCACACATGAGCACATGTGCACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTAGCACACACGTACAC ACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCAC ACGTACACACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACACATACACACATGAGCACATGTGCACACATGCAC ATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACGTACACACACGCACACATGGGCACATGTGC ACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACACACATGCACACATGA GCACATGTGCACACATGCACATACATACTGGCACACACGTACGCACATGT GCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACACGT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2315		chr16	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(763): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03516.hp2 NA18939.hp2 others(1): Show HG02257.hp1 HG03516.hp2 NA18939.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0070 a0001c0001t0001g0180 a0001c0001t0005g0225 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0180 a0001c0001t0005g0225 a0001c0001t0009g0204	4	262	0.0153	770	c.129 others(787): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(763): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18950.hp2 NA18940.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0106 a0001c0001t0002g0024 a0001c0001t0002g0106	2	262	0.0076	770	c.129 others(787): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(763): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCTGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0120	1	262	0.0038	770	c.129 others(787): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(763): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCAGAATAGATCT ATTCTGAATAGATCTTTTCAGAATAGATCTATTCTGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	262	0.0038	770	c.129 others(787): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAG ATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCAGAATAGATCTA TTCTGAAAAGATCTATTCAGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PIAS4_chr19_4002736_4044386	4011922	T T	TGTGTGGG others(763): Show TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GCTGTGGGATGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTG GAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTG GAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGT GGAGGTGTGTTTGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0288 a0003c0011t0001g0288	1	334	0.0030	770	c.28- others(783): Show c.28-946_28-945insTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGCTGTGGGATGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTTTGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTTTGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRDM16_chr1_3064203_3443621	3181088	C C	CCTTACAC others(763): Show CCTTACACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACGGTC TTACACACACAGTCTTACGGTCTTACACACGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGGCCTT ACGCATGGTCTTACACACGCAGTCTTACACACGGCCTTACGCATGGTCTT ACACACGCAGTCTTACACACGGTCTTACACACGCAATCTTACACAAGCAG TCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTACGGTC TTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAG TCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACAC AAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGG TCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTACAC ACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACACAC GGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACACAT GCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGC AGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACACAC GGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACAC ATGCAGTCTTACACACGCAGT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0107 a0002c0003t0001g0107	1	210	0.0048	770	c.38- others(785): Show c.38-5026_38-5025insGGCCTTACACACGCAGTCTTACACGCGGTC TTACGGTCTTACACACACAGTCTTACGGTCTTACACACGGTCTTACACAC GCAGTCTTACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACAC ACGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGCCTTACGC ATGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGCAATCTTAC ACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTC TTACGGTCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTAC ACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGG TCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTT ACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGG TCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTC TTACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTC TTACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTT ACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTC TTACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAG TCTTACACATGCAGTCTTACACACGCAGTCTTACACACGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3181088	C C	CCTTACAC others(763): Show CCTTACACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACGGTC TTACACACACAGTCTTACGGTCTTACACACGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGGCCTT ACGCATGGTCTTACACACGCAGTCTTACACACGGCCTTACGCATGGTCTT ACACACGCAGTCTTACACACGGTCTTACACACGCAATCTTACACAAGCAG TCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTACGGTC TTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAG TCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACAC AAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGG TCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCAGTCTTACAC ACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACACAC GGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACACAT GCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGC AGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACACAC GGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACAC ATGCAGTCTTACACACGCAGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0053 a0003c0005t0006g0053	1	210	0.0048	770	c.38- others(785): Show c.38-5026_38-5025insGGCCTTACACACGCAGTCTTACACGCGGTC TTACGGTCTTACACACACAGTCTTACGGTCTTACACACGGTCTTACACAC GCAGTCTTACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACAC ACGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGCCTTACGC ATGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGCAATCTTAC ACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTC TTACGGTCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTAC ACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGG TCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTT ACGCATGGTCTTACACACGCAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTC TTACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTC TTACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTT ACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTC TTACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAG TCTTACACATGCAGTCTTACACACGCAGTCTTACACACGC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(763): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGATGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGATGGTG GTGGTGGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGAT GGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTAA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGA TGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTG GTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATA ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGAT GGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGG GTGGTGGTAATGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	374	0.0027	770	c.-46 others(781): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTAATGGTGATGATGGTGATG GTGATGATGATGGTGGTGGTGGTGATAACGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGT AATGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGG TGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTG GTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGGT GATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGA TGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTG ATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGAT GATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAATGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGATGATGG TGATGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	492362	T T	TTCCCGGG others(763): Show TTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCGA GGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCC CCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAG ACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCC CTCCCGGGAGACCCGAGGCCCGCCCAGAGCCCTCCCGGGACCGCCAAGCC CTCGGAGACGCCAGGCCGCAGACCCTCCCGGAGACCCGAGGCCGCAGACC CGGAGACCGCCAGCGCCCAGGCCCTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGA GGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCC GGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTC CAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGGGAG ACCCGAGGCCGTCCAGAGCCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	295	0.0034	770	c.126 others(789): Show c.1265+3382_1265+3383insTCCGTCCAGAGCCCCCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGC CCCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGA GCCCTCCCGGGAGACCCGAGGCCCGCCCAGAGCCCTCCCGGGACCGCCAA GCCCTCGGAGACGCCAGGCCGCAGACCCTCCCGGAGACCCGAGGCCGCAG ACCCGGAGACCGCCAGCGCCCAGGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACC CGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCT CCCGGGAGACCCGAGGCCGTCCAGGGCCCTTCCCGGGGAGACCCGAGGCC GTCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTTCCCGG GAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ROBO2_chr3_77035099_77654964	77323064	T T	TATATTAT others(763): Show TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TAATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATAATATATT ATATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATATTATATTATGGATAATATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATA ATATATTATATTATGGATAATATATTATGGATAATATATTATATTATGGA TAATATATTATGGATAATATATTATATTATGGATAATATATTATATTATG GATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATAATATATTATATTATG GATAATATAATATAATATATC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	160	0.0063	770	c.389 others(791): Show c.389-154324_389-154323insATTATATTATGGATAATATAATAT AATATATTATATTATCGATAATATAATATCTTATATTATGGATAATATAA TATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTA TATTATGGATAATATATTATATTATGGATAATATATATTATATTATGGAT AATATAATATATTATATTATGGATAATATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATATTATGGATAATATATTATATTATGGAT AATATATTATGGATAATATATTATATTATGGATAATATATTATATTATGG ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATAATATATTATATTATGG ATAATATAATATAATATATCATATTATGGATAATATAATATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	304948	A A	AGAGGGGG others(763): Show AGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAG AGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACA GGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAG GGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGG ACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCG AGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGA GGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACA GGGCGAGAGGGGACAGGGCGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	133	0.0075	770	c.351 others(789): Show c.351+14471_351+14472insCCGCCCTGTCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCC TCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC CCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCC TGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTC CCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCC GCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCC TCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SNTG2_chr2_945849_1372613	1222457	A A	AGCTGGAG others(763): Show AGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCTGGTGGAGGTGCTGGATCGCTGTAGAGGAA AGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAGGT GCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGC TGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGC TGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAA AGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGT GCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTG TCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAG TGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACCGC TGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGC TGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGG CGTCTCCCTGTCCTGCCTGCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0129	1	190	0.0053	770	c.719 others(789): Show c.719+13298_719+13299insGTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGGTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATC GCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGCGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAG GTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCC TGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGC AGTGATGGAGGGTGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGACC GCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCT GCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAG GGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGG AAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222464	G G	GGTGCTGG others(763): Show GGTGCTGGACCGCTGTAGAGGAAAGCGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTG CAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGA GGGCATCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAG GAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTGCTGGA AGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTG CAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGAT CGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCC TGCTGCTGGAGGTGCTGGATCCCTGTAGAGGAAACTGGTGCAGTGATGGA GGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAG GAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGA GGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCC CTGTCCTGCCTGCTGCTGGAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0008 a0003c0007t0001g0008	1	190	0.0053	770	c.719 others(789): Show c.719+13242_719+13243insCCGCTGTAGAGGAAAGCGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAG TGGTGCAGTGATGGAGGGCATCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGTGGTGCAGTGATGGAGTGCGTCTCCCTGTC CTGCCTGCTGCTGGAAGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCGCTG TAGAGGAAAGTGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTG CTGGAGGTGCTGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCG TCTCCCTGTCCTGCCTGCTGCTGGAGGTGCTGGATCCCTGTAGAGGAAAC TGGTGCAGTGATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAGGTGC TGGATCGCTGTAGAGGAAAGCGGCGCAGTGATGGAGGGCGTCTCCCTGTC CTGCCTGCTGCTGGAGGTGCTGGATCGCTGTAGAGGAAAGTGGTGCAGTG ATGGAGGGCGTCTCCCTGTCCTGCCTGCTGCTGGAAGTGCTGGA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GATGGTGG others(763): Show GATGGTGGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGGTGG TGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTG ATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGTGGTGGTG ATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGATGGT GGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATGGTGA TGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGATGGTG GTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGTGAT GGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTGGTGA TGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGTGATG GCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGATGGT GAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGATAGTGA TGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATAGTGGTA AGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGATGGTGAT GGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGGTAAGGA TGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATGGTGTTA AGGATGATGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03209.hp2 NA18906.hp1 others(1): Show HG02723.hp2 HG03209.hp2 NA18906.hp1 NA19043.hp2	a0006 a0023 a0026 a0006 a0023 a0026	a0006c0036 a0023c0088 a0026c0093 a0006c0036 a0023c0088 a0026c0093	a0006c0036t0003 a0006c0036t0135 a0023c0088t0003 others(1): Show a0006c0036t0003 a0006c0036t0135 a0023c0088t0003 a0026c0093t0139	a0006c0036t0003g0039 a0006c0036t0135g0358 a0023c0088t0003g0110 others(1): Show a0006c0036t0003g0039 a0006c0036t0135g0358 a0023c0088t0003g0110 a0026c0093t0139g0346	4	384	0.0104	770	c.272 others(789): Show c.2728-1874_2728-1873insTACCACCATCACCATCATCCTTAACA CCATTGCCCTCACCATCACCACCACCACCATCACCACCACCGTCATCCTT ACCACCATTACCCTCACCATCACCACCACCACTATCTCTACCTCCATCAC CATCACTATCACCATCACCACCACCATCACCATCACCATCATCCTTACCA CTATCACCCTCACCATCACCACCACCATCTCTACCTCCATCATCATCACT ATCACCATCACCACCATCACCATCATCCTTACCACCATCACCCTCACCAT CACCACCATCACCATCGCAATCATCCTTACCACCATTACCCTCGCCATCA CCACCACCACCATCTCTACCTCCACCATCATCGTTACTATCACCATCACC ACCACCATCACCATCACCATCATCCTTACCACAATTACCCTCGCCATCAC CACCACCATCTCTACCTCCACCATCATCATCACTATCACCATCACCACCA TCACCATCGTCCTTACCACCATCACCCTCACCATCACCACCACCATCACC ATCACAATCATCCTTACCACAATTACCCTCGCCATCACCACCACCACCAT CTCTACCTCCACCATCGTCGTTACTATCACCATCACCACCACCATCACCA CCACATCACCATCACCATCATCCTTACCACAATTACCCTCGCCATCACCA CCACCATCTCTACCTCCACCATCATCATCACTATCACCATCACCACCACC ATCACCATCATCCTTAACACCATCACCCTCACCATCACCACCAT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(763): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTTATATATTGTATAAAAATATATATCATATATATTTATATATT GTATAAAAATATATATATCATATATATTTATATATTATATAAAAATATAT ATATCATATATATTTATATATTATATAAAAATATATATCATATATATTTA TATATTATATATTATATATTTATATTTTATTTTTATATTTATATTATATA TATATTTTTATATTTATATTTATATATTATTATATTATATTTATATATTA TATAAAAATATATATCATATATATTTATATATTATATAAAAATATATATC ATATATATTTATATATTATATAAAAATATATATCATATATATTTATATAT TATATAAAAATATATATCATATATATTTATATATTATATAAAAATATATA TCATATATATTTATATATTATATAAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATAT ATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATA TATATCATATATATTTATATATTAAAAATATATATCATATATATTTATAT ATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCATAT ATATTTATATATTAAAATATATATCATATATATTTATATATTAAAAATAT ATATCATATATATTTATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0120 a0001c0003t0054g0120	1	128	0.0078	770	c.143 others(791): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTTATATATTGTATAAAAATATATATCATATATATTTATATATTGTATAA AAATATATATATCATATATATTTATATATTATATAAAAATATATATATCA TATATATTTATATATTATATAAAAATATATATCATATATATTTATATATT ATATATTATATATTTATATTTTATTTTTATATTTATATTATATATATATT TTTATATTTATATTTATATATTATTATATTATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTATATAAAAATATATATCATATATATTTATATATTATATA AAAATATATATCATATATATTTATATATTATATAAAAATATATATCATAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATC ATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAA AATATATATCATATATATTTATATATTAAAAATATATATCATATATATTT ATATATTAAAATATATATCATATATATTTATATATTAAAAATATATATCA TATATATTTATATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(763): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03669.hp2 HG00099.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0081 a0001c0001t0004g0070 a0001c0001t0002g0081 a0001c0001t0004g0070	2	94	0.0213	770	c.129 others(791): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTGGAGGCT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303323	T T	TCATCACT others(763): Show TCATCACTCGCCGGGACTCTGCAGAGCCTCCACCAACATCACTCGCCGGG ACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTC CACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCG CCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGA GCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATC ACTCGCCGGGACTCTGCAGAGCCTCCACCAACATCACTCGCCGGGACTCT GCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCA TCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGG ACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTC CACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCG CCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGA GCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATC ACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCT GCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCA TCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGG ACTCTGCAGAGCCTCCACCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	94	0.0106	770	c.129 others(791): Show c.1299+34310_1299+34311insATGGTGGAGGCTCTGCAGAGTCCC GGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGG TGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGA GTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGAT GATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCT GCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGA GTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAG GCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCC GGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGG TGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGA GTCCCGGCGAGTGATGTTGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGAT GATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCT GCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGA GTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAG GCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCC GGCGAGTGATGTTGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATG	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(763): Show CCTCCTCTCCTCCTCCTCTCCCCCTCCCCTCCCCTCCCTCTCCTCTCTCC CCCTCACCCTCCCCTCCTCTCTCTCTCCCTCCCCTCCTCCTCTCTCCTCC CTCCCCTCCCCTCCTCTCCTCCTCTCTCCTCCCTCCCCTCCTCCCTCTCC TCCCCTCCCTCTCCCTCCTCTCCTCCCTCCCCTCCCCTCTCCTCTCTCTC CCTCCCCTCTCCCTCTCCCTCCCCTCTCCCTCCTCCTCCGCTCCCCCTCT CCTCCTCTCCTCTCTCCTCCTTCCCCTCTCCTCCTCCTCCTCCTCTCCTC CCTTCCCCTCTCCTCCCTCCTCACCCTCCCCTCTCTCCGTCTCCTCTCCC CTCTCCCTCTCTCCTTCCTCTCCCTCCCCTCTCCTCCTCGTCCTCTCCCC TCACCTTCCCCTCTCTCCTCTCTCCTCCTCTCCTCCCGCTCCCTCCCCCT CCTCCCTCCTCCGCTCCTCTCTCCTCCCCTTCCCCCTCCTCCTCCTCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCCTGCCCTCTCCCCTCTCCCCTCC TCTCCCTCCTCCTCCTCTCTCCTCCCTCTCCTCCTCCCCTCTCCTCCACT CCTCTCCCCTCTCCCTCCTCACTCCTCTCCCCTCCTCCTCCTCTCCTCCC CACTCCTCTCCCCCTCCTCTCCTCTCTCCTCCTCCCTCTCCTCCCTCCCC ACCCTCCCCTCCCCTCCTTTTCTCTCCCTCCCCACGGCTCCCCTCCCCTC CTTTCTCCTCCCTTGCCGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	202	0.0050	770	c.53 others(781): Show c.5324_*5325insAGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGAG CCGTGGGGAGGGAGAGAAAAGGAGGGGAGGGGAGGGTGGGGAGGGAGGAG AGGGAGGAGGAGAGAGGAGAGGAGGGGGAGAGGAGTGGGGAGGAGAGGAG GAGGAGGGGAGAGGAGTGAGGAGGGAGAGGGGAGAGGAGTGGAGGAGAGG GGAGGAGGAGAGGGAGGAGAGAGGAGGAGGAGGGAGAGGAGGGGAGAGGG GAGAGGGCAGGAGGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGAGGAGG AGGGGGAAGGGGAGGAGAGAGGAGCGGAGGAGGGAGGAGGGGGAGGGAGC GGGAGGAGAGGAGGAGAGAGGAGAGAGGGGAAGGTGAGGGGAGAGGACGA GGAGGAGAGGGGAGGGAGAGGAAGGAGAGAGGGAGAGGGGAGAGGAGACG GAGAGAGGGGAGGGTGAGGAGGGAGGAGAGGGGAAGGGAGGAGAGGAGGA GGAGGAGGAGAGGGGAAGGAGGAGAGAGGAGAGGAGGAGAGGGGGAGCGG AGGAGGAGGGAGAGGGGAGGGAGAGGGAGAGGGGAGGGAGAGAGAGGAGA GGGGAGGGGAGGGAGGAGAGGAGGGAGAGGGAGGGGAGGAGAGGGAGGAG GGGAGGGAGGAGAGAGGAGGAGAGGAGGGGAGGGGAGGGAGGAGAGAGGA GGAGGGGAGGGAGAGAGAGAGGAGGGGAGGGTGAGGGGGAGAGAGGAGAG GGAGGGGAGGGGAGGGGGAGAGGAGGAGGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(763): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGG GAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGA GAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGAG GGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGG GAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGA GGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAG GGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAAT GGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	290	0.0035	770	c.205 others(789): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCC TTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCC TCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTCCCT CCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCC CCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTC TCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF517_chr8_144793913_144815084	144811882	G G	GGACAGTA others(763): Show GGACAGTAAAGTTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTG AGACAGAGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTG CAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAA GCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGAGTG GGAGAGACACCGACAGTAAAGCTCATCCAGGTGCAGACTGCAGCCTGGAA GCAAAGGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCAGCCAG GTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACAC CGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTG AGACAGGGTGGGAGAGACACGGACAGTAAAGCTCAGCCAGGTGCAGACTG CAGAATGGAAGCAAAGGCTGAGACAGAGTGGGAGAGACACCGACAGTAAA GCTCATCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTG GGAGAGACACCGACAGTAAAGCTCAGTCAGGTGCAGACTGCAGAATGGAA GCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGTTCAGCCAG GTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACAC GGACAGTAAAGTTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTG AGACAGAGTGGGAGAGACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01168.hp1 HG01192.hp1 others(6): Show HG00408.hp2 HG01168.hp1 HG01192.hp1 HG01928.hp1 HG01952.hp1 HG02074.hp2 HG02300.hp2 HG02738.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0007 a0001c0001t0011 a0001c0019t0007 a0001c0001t0007 a0001c0001t0011 a0001c0019t0007	a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0053 others(2): Show a0001c0001t0007g0013 a0001c0001t0007g0014 a0001c0001t0007g0053 a0001c0001t0011g0014 a0001c0019t0007g0014	9	408	0.0221	770	c.34 others(781): Show c.3487_*3488insGACAGTAAAGTTCAGCCAGGTGCAGACTGCAGAA TGGAAGCAAAGGCTGAGACAGAGTGGGAGAGACACCGACAGTAAAGCTCA GCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGA GACACGGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAA GGCTGAGACAGAGTGGGAGAGACACCGACAGTAAAGCTCATCCAGGTGCA GACTGCAGCCTGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACCGACA GTAAAGCTCAGCCAGGTGCAGACTGCAGCCTGGAAGCAAAGGCTGAGACA GGGTGGGAGAGACACCGACAGTAAAGCTCAGCCAGGTGCAGACTGCAGAA TGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACAGTAAAGCTCA GCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACAGAGTGGGAGA GACACCGACAGTAAAGCTCATCCAGGTGCAGACTGCAGAATGGAAGCAAA GGCTGAGACAGGGTGGGAGAGACACCGACAGTAAAGCTCAGTCAGGTGCA GACTGCAGAATGGAAGCAAAGGCTGAGACAGGGTGGGAGAGACACGGACA GTAAAGTTCAGCCAGGTGCAGACTGCAGAATGGAAGCAAAGGCTGAGACA GGGTGGGAGAGACACGGACAGTAAAGTTCAGCCAGGTGCAGACTGCAGAA TGGAAGCAAAGGCTGAGACAGAGTGGGAGAGACACC	ZNF517	ENSG00000197363.11	transcript	ENST00000359971.4	protein_coding		1799		chr8	TogoVar
ACSF3_chr16_89088852_89161233	89137311	C C	CGGGGAAG others(764): Show CGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGA GCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCAC CAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGG ACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCG GGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGG TCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCC CCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAA GAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAG GGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGG ATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGG GAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTC ACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGG AGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCA CCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAG GACCACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTT GGGAGGACCACCAGGAGCTCAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03225.hp1 HG02886.hp2 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0029 a0002c0003t0005g0030 a0002c0003t0005g0029 a0002c0003t0005g0030	2	368	0.0054	771	c.136 others(790): Show c.1366+4075_1366+4076insAGGTCTCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGG AAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGAC CACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGG AGGACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(764): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGG GAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTT GTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAG GAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGG AAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTG AGGGGAAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0027 a0002c0003t0005g0027	1	368	0.0027	771	c.136 others(790): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAG CCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGAC CACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGG AGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(764): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGG GAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTT GTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAG GAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGG AAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTG AGGGGAAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp1 HG00639.hp1 HG01943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0046 a0002c0003t0005 a0002c0003t0046	a0002c0003t0005g0023 a0002c0003t0046g0021 a0002c0003t0005g0023 a0002c0003t0046g0021	2	368	0.0054	771	c.136 others(790): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCA GGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAG CCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGAC CACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGG AGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137345	G G	GGGAGGAC others(764): Show GGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCGG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGG GAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCT CAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACC ACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGA GGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCC CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGACTGAGGGG AAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCATGGGGAAGGATTG AGGGGAAGAGCCCCGGGTCTCA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19030.hp1 HG02027.hp1 NA19030.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0005 a0005c0009t0039 a0002c0003t0005 a0005c0009t0039	a0002c0003t0005g0071 a0005c0009t0039g0032 a0002c0003t0005g0071 a0005c0009t0039g0032	2	368	0.0054	771	c.136 others(790): Show c.1366+4130_1366+4131insGGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAG GAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACC ACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCT CGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCG GGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGA GCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGG GAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATT GAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAA GGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACG GGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGC TCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCA GGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGAC CACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGG AGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89137428	G G	GGATTGAG others(764): Show GGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACG GGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCA GGAGCTCACGGGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGAC CACCAGGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGG GAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGGT CCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCC CAGGTCCTGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAG AGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGG GGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGAT TGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGA AGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAGGACCACCAGGAGCTCAT GGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTCAGGAGGACCACCAGGAG CTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACC AGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGA CCACCAGGAGCTCACGGGGAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0078 a0002c0003t0005g0078	1	368	0.0027	771	c.136 others(790): Show c.1366+4322_1366+4323insACGGGGAAAGATTGAGGGGAAGAGCC CCAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAA GAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGATTGA GGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGG ATTGAGGGGAAGAGCCCCAGGTCCTGGGAGGACCACCAGGAGCTCACGGG GAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTC ACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGG AGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCA CCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTTGGGAG GACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCTC AGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAG GTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGC CCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGGA AGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGA GGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAG ATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS16_chr5_5135330_5325304	5305396	A A	ACACACAC others(764): Show ACACACACACTTCCCACACCACACACACACACACTTCCCACACCACACAC ACACAAATCCCACACCAGACACACACACATCCCACACCACACACACACAC CACACACACCACACCACAGACACACACATCCCACACCACACACCCCCCCC ACACACACATCCCACACCACACACAGACATCCCACACCACACACACATCC CACACCACACACACACACATCCCGCACCACACACTCACACATCCCACACC ACACATACACATCCCACACCACACACACATACCACACCACACACACACAC ATCCCACACCACACACACACACATCCCACACCACACACATCCACACCACA CACACACACATCCCACACCAGACACACACATCCCACACACACACACACAT CCCACATCACACACACAATCACAAACACACATCCCACACCACACACACAT CCCACACCACACACACACATCCCACACACACACACACCCACCACACACAC ACACACATCCCACACCACACACACAATCCCACACCACACACACACACAAT CCCACACCACACACACACATCCCATACCACACACACATCCCACGCCACAC ACACACACACACCCCACACCACACACACATCCCACACCACACACATCCAC ACCACACACACACATCCCACACCACACATACACACACACATCCCATACCA CACACATCCCACACCACACACACATCCCACACCACACACACATCCCACAC CACACACACACACATCCCACAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02970.hp1 HG03041.hp2 HG02895.hp2 HG02970.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0057 a0004c0009 a0001c0057 a0004c0009	a0001c0057t0001 a0004c0009t0009 a0004c0009t0040 a0001c0057t0001 a0004c0009t0009 a0004c0009t0040	a0001c0057t0001g0324 a0004c0009t0009g0134 a0004c0009t0040g0135 a0001c0057t0001g0324 a0004c0009t0009g0134 a0004c0009t0040g0135	3	332	0.0090	771	c.318 others(790): Show c.3187-1099_3187-1098insTTCCCACACCACACACACACACACTT CCCACACCACACACACACAAATCCCACACCAGACACACACACATCCCACA CCACACACACACACCACACACACCACACCACAGACACACACATCCCACAC CACACACCCCCCCCACACACACATCCCACACCACACACAGACATCCCACA CCACACACACATCCCACACCACACACACACACATCCCGCACCACACACTC ACACATCCCACACCACACATACACATCCCACACCACACACACATACCACA CCACACACACACACATCCCACACCACACACACACACATCCCACACCACAC ACATCCACACCACACACACACACATCCCACACCAGACACACACATCCCAC ACACACACACACATCCCACATCACACACACAATCACAAACACACATCCCA CACCACACACACATCCCACACCACACACACACATCCCACACACACACACA CCCACCACACACACACACACATCCCACACCACACACACAATCCCACACCA CACACACACACAATCCCACACCACACACACACATCCCATACCACACACAC ATCCCACGCCACACACACACACACACCCCACACCACACACACATCCCACA CCACACACATCCACACCACACACACACATCCCACACCACACATACACACA CACATCCCATACCACACACATCCCACACCACACACACATCCCACACCACA CACACATCCCACACCACACACACACACATCCCACACCACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ARHGEF16_chr1_3449665_3486113	3477321	A A	ACCCCCAT others(764): Show ACCCCCATCACCCCACAACCCACCCCCATCACCCCCACACTACCCACCCC CATCACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCACACT ACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACC CACCCCATCACCCCACACTACCCATCCCCATCACCCCCACACGACCCACC CCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCAT CACCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACGACCCACCCCCATCACCCCCACACGACCCACCCCATCACCCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTACCC ACCCCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCCATCACCCCACACTACCCAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp2 HG03098.hp2 HG02809.hp2 HG02965.hp2 HG03098.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0006 a0002c0014t0006	a0002c0014t0006g0009 a0002c0014t0006g0088 a0002c0014t0006g0009 a0002c0014t0006g0088	3	334	0.0090	771	c.147 others(788): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACAC TACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTAC CCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCA CCCCATCACCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCC ATCACCCCCACACTACCCACCCCATCACCCCACACTACCCATCCCCATCA CCCCCACACGACCCACCCCATCACCCCCACACTACCCACCCCCATCACCC CACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTA CCCACCCCATCACCCCCACACGACCCACCCCCATCACCCCCACACGACCC ACCCCATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACC CCCATCACCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCC ATCACCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCA CCCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(764): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCGACACC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	292	0.0034	771	c.207 others(792): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGC CGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGGGGGCCG ACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGA CACCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGGCCGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA CCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGA CGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(764): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGCGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGAT GGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	434	0.0023	771	c.513 others(786): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGT ACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(764): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGCGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGAT GGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG04228.hp1 HG02040.hp1 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0013 a0004c0010t0002 a0001c0001t0013 a0004c0010t0002	a0001c0001t0013g0087 a0004c0010t0002g0126 a0001c0001t0013g0087 a0004c0010t0002g0126	2	434	0.0046	771	c.513 others(786): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGT ACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(764): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCACCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGAT GGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	434	0.0023	771	c.513 others(786): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC ACCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGT ACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(764): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGAT GGGTGAGCATCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	434	0.0023	771	c.513 others(786): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGT ACGGGAGGGAATGGCGGATGGGTGAGCATCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(764): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGAT GGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00673.hp2 others(61): Show HG00099.hp2 HG00438.hp2 HG00673.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG03017.hp2 HG03195.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18968.hp1 NA18970.hp1 NA18973.hp1 NA18982.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19060.hp1 NA19065.hp2 NA19081.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 others(4): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0001t0038	a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0019 others(40): Show a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0067 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0146 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0183 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0231 a0001c0001t0002g0241 a0001c0001t0002g0253 a0001c0001t0002g0271 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0013g0076 a0001c0001t0013g0090 a0001c0001t0013g0092 a0001c0001t0017g0009 a0001c0001t0021g0003 a0001c0001t0021g0029 a0001c0001t0021g0181 a0001c0001t0023g0024 a0001c0001t0037g0003 a0001c0001t0038g0117	64	434	0.1475	771	c.513 others(786): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGT ACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar

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