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
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(827): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTAAACTATATAGTTTTAAACTATATAGTTTAAACTAT ATAGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAG TTTTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGT TTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTT TTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGT AGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACT AGTTTATATTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0228 a0001c0006t0001g0228	1	38	0.0263	834	c.342 others(853): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGT TTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAA ACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAACT AGTTTAAAACTATATATAAACTAGTTTAAAACTATATAGTTTATATAGTT TAAAACTATATAGTTTAAACTATATAGTTTAAAACTATATAGTTTAAACT ATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTAT ATAGTTTAAACTATATAAACTATATAGTTTAAAACTATATATAAACTATA TAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATA GTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(827): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAA AGAGGGGGAAGATGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAG GAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAG ACGGGAGGAGGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGA GGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAG GAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGAT GGGAGGGGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAG GGGGGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGAAGGAG AGGAAAGAGGGGGAAGATGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGG AGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGG GGAAGACGGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGG GGGAGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGG AAGACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACA GGAAAGAGGGGGAAGATGGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	2	0.5000	834	c.162 others(853): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCT CCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCC CTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCCG TCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCT CCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTCCCCCTC TTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCG TCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTCCTCTCC TCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTT CCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCATCT TCCCCCTCTTTCCTCTCCTTCTCCCATCTTCCCCCTCTTTCCTCTCCTCC TCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTC TTCTCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTT CCCCCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PRKCZ_chr1_2045411_2190395	2124202	G G	GTCATGGT others(827): Show GTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGG TGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	266	0.0038	834	c.335 others(853): Show c.335-11057_335-11056insTGGTGGTAGTTAGGGTCGTGGTGGTT AGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGG CTATAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGT TAGGATCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(827): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGTCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0293 a0002c0003t0002g0293	1	132	0.0076	834	c.126 others(853): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGAGTCC TCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCC GCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCC GCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(827): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACATAGCTATAGCTATAAGCTAACTTATAACTT ATAGCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	174	0.0057	834	c.66+ others(849): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCT ATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
SLC12A7_chr5_1045384_1117063	1098676	G G	GCCCCCCT others(827): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACG CCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTG CACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCC TCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTA ACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCC CCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCC AGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCAC ACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCT GCACGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCT AACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCAGCCCCC CTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACCCAGCCC CCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CACACCCAGACCCCCTCTAACCCTCTGCACACCCA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0003 a0001c0003t0003g0003	1	54	0.0185	834	c.125 others(851): Show c.125-4429_125-4428insTGGGTGTGCAGAGGGTTAGAGGGGGTCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGGCTGGGTGAGCAGAGG GTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTG GGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTT AGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAG GGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGGGGGGCTGGGTGAGC AGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGT GTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGG GGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCT others(827): Show CTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTC CTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18906.hp1 HG03486.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0001c0004 a0002c0005	a0001c0004t0001 a0002c0005t0001 a0001c0004t0001 a0002c0005t0001	a0001c0004t0001g0147 a0002c0005t0001g0142 a0001c0004t0001g0147 a0002c0005t0001g0142	2	90	0.0222	834	c.688 others(851): Show c.688-2426_688-2425insCCTCCTCCACTTCCTCCTCCACCTCCTC CTCTACCTCCTGCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACC TCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACTTCCTCCTCCACCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCT ACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTC CTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCA CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCT CCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRXN1_chr20_641615_658200	642231	G G	GGGGGGGG others(827): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCTGGGGGGCCAGCGGGGGCCCAGCGGGG GTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTG GAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	414	0.0024	834	c.64 others(845): Show c.6482_*6483insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACT CCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCC CCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCA CCCCCGCTGGGCCCCCGCTGGCCCCCCAGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGC TGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC TCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4383		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(827): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGA AAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAA GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAA GGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0036 a0001c0005t0036	a0001c0005t0036g0310 a0001c0005t0036g0310	1	3	0.3333	834	c.597 others(851): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCCCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCCTT CCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTT CCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(827): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGT CCTCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCACA CCCCTGTCCCCAGGACCCTGTCCCCGGACCCCTGTCCCCACACCCCTGTC CCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGAC CCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGG ACCCCTGTCCTCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTG TCCTCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	12	0.0833	834	c.22 others(845): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGG ACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGACAGGGG TCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAG GGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGG GGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGG GGACAGGGGTGTGGGGACAGGGGTCCGGGGACAGGGTCCTGGGGACAGGG GTGTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAG GACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747431	G G	GCTGGGGT others(827): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	282	0.0035	834	c.189 others(849): Show c.189-882_189-881insTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(827): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCA CATACCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACA CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTA AAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCCGTCATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACC ATCCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTA AAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTAAAGACCCCCACAT ACCCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	191	0.0052	834	c.225 others(853): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGG GTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGGTCTT TACGAGGGTATGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGT GGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGT CTTCAGGATGGTGTGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGG TATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGT CTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTAC GAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTC TTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ATACACAC others(827): Show ATACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACAAACC ACACACCCTACACACCCCACACACACCACACACACACATCACATACCACA CACACATCACATACCACACACAAACCACACACCACACACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCAACACACACA TCACACACCACACACCCCACACACACATCACATACCACACACAAACCACA CACCCTACACACACCACACACCCCACACACACATCACACACCACACACAC CACACACACCCCACACACACCACACACACACATCACATACCACACACCCG ACACACGCCACACACACACCACACACCCCACGCACACATCACATACCACA CACAAACCACACACCCTACACACACCACACACCCCACACACACCACACAC ACACACCACACACACATCACATACCACACACAAACCACACACCCCCACAC ACCCCACACACCCCACACACACCACACACCCCACACACACACCACACACC CCCACACACACATCACATACCACACACAAACCACACACCCCACACACCCC ACACACCACACACACACCACACACACATCACATACCACACACAAACCACA CACCCTACACGCACCACACACCCCACACACACCACACACCCGACACACGC CACACACACACCACACACCCCACGCACACATCACATACCACACACAAACC ACACACCCTACACACCCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	35	0.0286	834	c.35 others(853): Show c.35+22414_*35+22415insTACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACACC ACACACACACATCACATACCACACACACATCACATACCACACACAAACCA CACACCACACACACACCACACACCCCACACACACATCACATACCACACAC AAACCACACACCCAACACACACATCACACACCACACACCCCACACACACA TCACATACCACACACAAACCACACACCCTACACACACCACACACCCCACA CACACATCACACACCACACACACCACACACACCCCACACACACCACACAC ACACATCACATACCACACACCCGACACACGCCACACACACACCACACACC CCACGCACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACCACACACACACACCACACACACATCACATACCAC ACACAAACCACACACCCCCACACACCCCACACACCCCACACACACCACAC ACCCCACACACACACCACACACCCCCACACACACATCACATACCACACAC AAACCACACACCCCACACACCCCACACACCACACACACACCACACACACA TCACATACCACACACAAACCACACACCCTACACGCACCACACACCCCACA CACACCACACACCCGACACACGCCACACACACACCACACACCCCACGCAC ACATCACATACCACACACAAACCACACACCCTACACACCCCACACACCCC ACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
U2AF2_chr19_55650035_55679716	55670538	A A	ACCCTGCT others(827): Show ACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCTCCGT GCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCCCGTGC ACCCTCTGTCCGTGCACCCTGCTGTCCGTGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCGGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGCCCGTGCACCCTGCTGTTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCC TGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTG CTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCTGCACCCTGCTGTCCCCTGCCACCCTGCTGTCCCTGCACCCCTG CTGTCCCGTGCACCCTGCTGTCCCCGTGCACCCTGCTGTCCGTGCACCCT GCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGC TGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGC TGTCCGTGCACCCTGCTGTCCCGTGCACCCTCGCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	392	0.0026	834	c.129 others(851): Show c.1293+862_1293+863insCCCTGCTGTCCCGTGCACCCTGCTGTCC TCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTC CCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCTGCACCCTGCTGTCC CGTGCACCCTCTGTCCGTGCACCCTGCTGTCCGTGTGCACCCTGCTGTCC GTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCGGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCG TGCACCCTGCTGCCCGTGCACCCTGCTGTTCCCGTGCACCCTGCTGTCCG TGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTG CACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCA CCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCTGCACCCTGCTGTCCCCTGCCACCCTGCTGTCCCTGCAC CCCTGCTGTCCCGTGCACCCTGCTGTCCCCGTGCACCCTGCTGTCCGTGC ACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCGTGCAC CCTGCTGTCCCGTGCACCCTGCTGTCCGTGCACCCTGCTGTCCCGTGCAC CCTGCTGTCCGTGCACCCTGCTGTCCCGTGCACCCTCGCTCCCTGCTGTC CGTGCA	U2AF2	ENSG00000063244.14	transcript	ENST00000308924.9	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(827): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	282	0.0035	834	c.25 others(843): Show c.259_*260insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(827): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATAATATATTATAAATAATATATTATATATTATATAATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATATTATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATAAATAATATATTATATATAATATGTTA TATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0265 a0001c0001t0035g0265	1	44	0.0227	834	c.-1- others(851): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATAATATATTATAAATAATATATTAT ATATTATATAATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATATTATATATTATAAATAATATATTATA TATTATATTATATATTATAAATAATATATTATATATTATAAATAATATAT TATATATAATATGTTATATATTATAAATAATATATTATATATAATATGTT ATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(827): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTATAATATAGTTATAATATATAAATATATATTAT AACTATATTAAATATATAAATTATATAATATATATTATATATTGTATATT ATATAATTTATATAATATATTATATGTTATATAATATATATTATATATTG TATATATTATATTATATATTATATATTTTATATATCATATATAGTATGCT ATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTATAT ATTATATAGTATACTATATAATATATATTTTTATATATTATATATAATAT ATATAATTATATATCATATATATTTATATAATATATGATATATAATATAT AATATATATTATGTATTATATAATTATATAAAATATATCATATATTATAT ATTATAAATAATATATTATATATTATATTATATATTATAAATAATATATT ATATATTATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATAATATAT TATAAATAATATATTATATATTATATAATATATTATAAATAATATATTAT ATATTATATTATATATTATAAATAATATATTATATATTATATTATATATT ATAAATAATATATTATATATTATAAATAATATATTATATATAATATGTTA TATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp1 others(4): Show HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01261.hp2 HG01981.hp2 HG02698.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0273 others(4): Show a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0005g0270 a0001c0001t0017g0268 a0001c0001t0017g0269	7	50	0.1400	834	c.-1- others(851): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTATAATATAGTTATAATA TATAAATATATATTATAACTATATTAAATATATAAATTATATAATATATA TTATATATTGTATATTATATAATTTATATAATATATTATATGTTATATAA TATATATTATATATTGTATATATTATATTATATATTATATATTTTATATA TCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTATA CTATATATTTTTATATATTATATAGTATACTATATAATATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATTATATTATATA TTATAAATAATATATTATATATTATATTATATATTATAAATAATATATTA TATATTATATTATATATTATAAATAATATATTATATATTATATTATATAT TATAAATAATATATTATATATTATATTATATATTATAAATAATATATTAT ATATTATATAATATATTATAAATAATATATTATATATTATATAATATATT ATAAATAATATATTATATATTATATTATATATTATAAATAATATATTATA TATTATATTATATATTATAAATAATATATTATATATTATAAATAATATAT TATATATAATATGTTATATATTATAAATAATATATTATATATAATATGTT ATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(827): Show AGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAAAAGGG TGGGAAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAG GAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGG GAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGG AGGGGGGGAGAAGGGTGGGGAGGGAGGAGAAGGGTGGGGAGGGGGGGAGA AGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAG GGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGGG TGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGG AGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGG GAGGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGTGGGGA GGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGGGAGAA GTGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGG GGGGAGAAGGGTGGGGAAGGGGGAGAAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0107 a0001c0003t0010g0107	1	35	0.0286	834	c.-28 others(853): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTT CTCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCCCCCTC CCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCT CCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCC CACCCTTCTCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACACTTCTCCC CCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACC CTTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC CTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCC TTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCT CCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCTCCCCACCCTTC TCCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCTC CCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCT CCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCC CCCTTCCCACCCTTTTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCAC CCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(828): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG CATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGTATAT ATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTATATA CTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	30	0.0333	835	c.505 others(854): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAA TATATATAGTACATACTATACATAAAATATATATATAGTATATACAATGT ACATACTATATATAAAATATATATAGTACATACTATATATAAAATATATA TAGTACATACTATATATAAAATATATAGTACATACTATATATAAAATATA TAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATA TATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(828): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTATATATTTTATATATAGTATGTACTATATATTTTATATATA GTATGTACTATATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACATTGTATATACTATATATATATTTTATGTATAGTATGT ACTATATATATTTTATGTATAGTATGTACATTGTATATACTATATATATA TTTTATGTATAGTATGTACTATATATATTTTATGTATAGTATATATACTG TATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATAT ATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTA TAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATAC TGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTAT ATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATG TATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATAT ACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19007.hp2 HG00140.hp1 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0165 a0002c0002t0001g0084 a0002c0002t0001g0165	2	31	0.0645	835	c.505 others(854): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAA TATATATAGTACATACTATACATAAAATATATATATAGTATATACAATGT ACATACTATATATAAAATATATATAGTACATACTATATATAAAATATATA TAGTACATACTATATATAAAATATATAGTACATACTATATATAAAATATA TAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATA TATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(828): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGAGGGGGAGG GGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGG GAGGAGGGGAGGGGGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGAGGG AGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGG GAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGA GGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAG GGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGAGGGGGGAGGGGGGAGGAGGGGAGGAGGGAGGAGGGGAGGAGG GAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGA GGGGAGGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGG GGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGG GAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGA GGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGG GAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGA GGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGG GGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGG GGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	30	0.0333	835	c.51 others(846): Show c.5165_*5166insCCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCT CCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCT CCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTC CCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCC TCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCT CCTCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCC TCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCT CCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCTCC CCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCCCTCC TCCCTCCTCCCCTCCTCCCTCCTCCCCTCCTCCCCCCTCCCCCCTCCCCT CCTCCCCCCTCCCCTCCTCCCTCCTCCCCCGTCCCCTCCTCCCCGCCCTC CCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCCCCTCCTCC CCTCCTCCCCCTCCCCCTTCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCC TCCCCCTCCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTC CTCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCCCCCCTCCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCTCCCTCCTC CCCCTCCCCCTCCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCTCTTCCC C	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(828): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGG AGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCA CCCCGGCCAGCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	154	0.0065	835	c.217 others(854): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCCGGCCA GCCGCCCGGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82140344	G G	GGCCAGCC others(828): Show GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGA GGTGCGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCAC CCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTTCTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0215 a0002c0002t0004g0215	1	154	0.0065	835	c.217 others(854): Show c.217-24023_217-24022insGGTCAGCCCCCCGCCCGGCCAGCCGC CCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGCGGGG GGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGAGGGTCAGCCCTCCACCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTTCTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCTGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGG	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1116978	A A	ACGGACCG others(828): Show ACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTAC AGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGACATCAC TGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGA CATCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGA TGATGACACCACTGCAGCTCTACGGACCGGCTTCCATCACCGACGCCCAC GCAGGATGATGACATCACTGCAGCTCTACGGACCGGCTTCCAGCACCGAC GCCCACGCAGGATGATGACATCACTACAGCTCTACGGACCGGCTTCCATC ACCGACGCCCACGCAGGATGATGACACCACTGCAGCTCTACGGACCGGCT TCCATCACCGACGCCCACGCAGGATGATGACATCACTGCAGCTCTACGGA CCGGCTTCCAGCACCGACGCCCACGCAGGATGATGACATCACTACAGCTC TACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACATCACTA CAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGCAGGATGATGACA TCACTACAGTTCTACGGACCGGCTTCCATCACTGACGCCCACGCAGGATG ATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACCGACGCCCACGC AGGATGATGACATCACTACAGTTCTACGGACCGGCTTCCATCACCGACGC CCACGCAGGATGACATCACTGCAGTTCTACGGACCGGCTTCCATCACAGA CGCCCACGCAGGATGATGACATCACTACAGTTCTAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	118	0.0085	835	c.129 others(854): Show c.129+10278_129+10279insGTAGAACTGTAGTGATGTCATCATCC TGCGTGGGCGTCTGTGATGGAAGCCGGTCCGTAGAACTGCAGTGATGTCA TCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGTAGTGATG TCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAACTGCA GTGATGTCATCATCCTGCGTGGGCGTCAGTGATGGAAGCCGGTCCGTAGA ACTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTC CGTAGAACTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAG CCGGTCCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGC TGGAAGCCGGTCCGTAGAGCTGCAGTGATGTCATCATCCTGCGTGGGCGT CGGTGATGGAAGCCGGTCCGTAGAGCTGCAGTGGTGTCATCATCCTGCGT GGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGTAGTGATGTCATCATC CTGCGTGGGCGTCGGTGCTGGAAGCCGGTCCGTAGAGCTGCAGTGATGTC ATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGCTGCAGT GGTGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCGTAGAGC TGCAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGTCCG TAGAGCTGCAGTGATGTCATCCTGCGTGGGCGTCGGTGATGGAAGCCGGT CCGTAGAGCTGTAGTGATGTCATCATCCTGCGTGGGCGTCGGTGATGGAA GCCGGTCCG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1H_chr16_1148106_1226768	1185711	C C	CATAGGGC others(828): Show CATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGC ATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAG TAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGT GTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0033 a0033	a0033c0082 a0033c0082	a0033c0082t0003 a0033c0082t0003	a0033c0082t0003g0096 a0033c0082t0003g0096	1	309	0.0032	835	c.300 others(852): Show c.300-9261_300-9260insATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGG AGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGC CGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCAT GCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATG TGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGAC GGCATGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34			chr16	TogoVar
CCBE1_chr18_59425939_59702423	59473808	C C	CACTATTT others(828): Show CACTATTTCCTCCCCTGCTACTCACCTTCCAACCCTATTTCCTCCCCCAC TACTCACCTTCCAACCCTATTTCCTCCCCCACTACTCACCTTCCAACCCT CCCACTATTTCCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTC CCCCCTACTACTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTC ACCTTCCAACCTTCCCACTATTTCCTCCCCCTACTACTCACCTTCCAACC CTCCCACTATTTCCTCCCCCACTACTCACCTTCCAACCCTCCCACTATTT CCTCCCCCCACTACTCACCTTCCAACCTTCCCACTATTTCCCCCCTACTA CTCACCTTCCAACCCTCCCACTATTTCCCCCCGACTACTCACCATCCAAC CCTTCCACTATTTCCCCCCCACTACTCACCATCCAACCCTCCCACTATGT CCTCTCCCACTACTCACCTTCCAACCCTCCTATTCCCCCCACTACTACTC ACCATCCAACCCTCCCAGTACTCACCTTCCAACCCTCCCACTATCCCCCC CTACTACTCACCTTCCAACCCTTCCACTATTTCCCCACTACTACTCACCT TCCAACCCTCCCACTATTTCCTCCCTCCAACTACTCACCTTCCAACCCTC CTACTATTCCCCCGCTACTACTCACCTTCCAACCCTCCTACTATTCCCCC GCTACTACTCACCTTCCAACCCTCCCACTATTCCCCCACTACTGCCCACC TTCCAACCCTCCCACTATTCCCCCGCTACTACCTACCTTCCAACCCTCCC ACTATTTCCTCCCACCACTCACCTTCCAACCCTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0152 a0001c0001t0057g0152	1	2	0.5000	835	c.266 others(852): Show c.266-4202_266-4201insAGGAGGGTTGGAAGGTGAGTGGTGGGAG GAAATAGTGGGAGGGTTGGAAGGTAGGTAGTAGCGGGGGAATAGTGGGAG GGTTGGAAGGTGGGCAGTAGTGGGGGAATAGTGGGAGGGTTGGAAGGTGA GTAGTAGCGGGGGAATAGTAGGAGGGTTGGAAGGTGAGTAGTAGCGGGGG AATAGTAGGAGGGTTGGAAGGTGAGTAGTTGGAGGGAGGAAATAGTGGGA GGGTTGGAAGGTGAGTAGTAGTGGGGAAATAGTGGAAGGGTTGGAAGGTG AGTAGTAGGGGGGGATAGTGGGAGGGTTGGAAGGTGAGTACTGGGAGGGT TGGATGGTGAGTAGTAGTGGGGGGAATAGGAGGGTTGGAAGGTGAGTAGT GGGAGAGGACATAGTGGGAGGGTTGGATGGTGAGTAGTGGGGGGGAAATA GTGGAAGGGTTGGATGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGG AAGGTGAGTAGTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTG GGGGGAGGAAATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAAT AGTGGGAGGGTTGGAAGGTGAGTAGTAGGGGGAGGAAATAGTGGGAAGGT TGGAAGGTGAGTAGTCGGGGGGAAATAGTGGGAGGGTTGGAAGGTGAGTA GTAGGGGGGAAATAGTGGGAAGGTTGGAAGGTGAGTAGTGGGGGGAGGAA ATAGTGGGAGGGTTGGAAGGTGAGTAGTGGGGGAGGAAATAGGGTTGGAA GGTGAGTAGTGGGGGAGGAAATAGGGTTGGAAGGTGAGTAGCAGGGGAGG AAATAGT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	3/10			chr18	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CAAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0246 a0001c0001t0024g0246	1	38	0.0263	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCAAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0009 a0001c0001t0009g0009	2	39	0.0513	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18995.hp2 NA18991.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0054 a0001c0001t0002 a0001c0001t0054	a0001c0001t0002g0162 a0001c0001t0054g0201 a0001c0001t0002g0162 a0001c0001t0054g0201	2	39	0.0513	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(828): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTT TTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA19088.hp2 HG02148.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0002 a0001c0013t0002 a0001c0001t0002 a0001c0013t0002	a0001c0001t0002g0208 a0001c0013t0002g0242 a0001c0001t0002g0208 a0001c0013t0002g0242	2	39	0.0513	835	c.248 others(852): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAG TGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTATATA others(828): Show TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATTTATATATATATTTTTATATATTTATA TATATTTTTATATATTTATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTTTATATATTTATATATATTTATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATATTTATATATATTTATATATATATATTTATATATATTTATATATA TATATTTATATATATTTATATATATATATTTATATATATATATTTATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATGTATATTTATATATTTATATATATTTATATATA TATTTATATATTTATATATATTTATATATATATTTATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATTTATATATA TTTATATATATTTATATATATTTATATATTTATATATATTTATATATTTA TATATATTTATATATATATTTATATATTTATATATATTTATATATATATT TATATATTTATATATATTTATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	46	0.0217	835	c.-2+ others(852): Show c.-2+56296_-2+56297insTATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATAAATATA TATATAAATATATATAAATATATAAATATATATATAAATATATATAAATA TATAAATATATATATAAATATATATAAATATATAAATATACATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATATAAATATATATATATAAATATATA TAAATATATATATATAAATATATATAAATATATATATATAAATATATATA AATATATATATATAAATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATATAAATATATATAAATATATATATAAATATA TATATAAATATATATAAATATATAAATATATATAAATATATAAAAATATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATAAATATATA AAAATATATATAAATATATAAAAATATATATATAAATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DCDC2C_chr2_3698575_3853008	3725566	A A	AGAGGAAG others(828): Show AGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGA AGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGA GCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAG AGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAG GAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCT GCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGT GGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCC CAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGG AAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACG AGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18969.hp1 NA18995.hp1 others(4): Show NA18952.hp2 NA18969.hp1 NA18995.hp1 NA19003.hp1 NA19074.hp1 NA19088.hp2 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0004t0001	a0002c0003t0001g0194 a0002c0003t0001g0199 a0002c0003t0002g0193 others(4): Show a0002c0003t0001g0194 a0002c0003t0001g0199 a0002c0003t0002g0193 a0002c0003t0003g0195 a0002c0003t0003g0198 a0002c0003t0003g0205 a0002c0004t0001g0180	7	224	0.0313	835	c.340 others(852): Show c.340-1405_340-1404insCGGTGGATCCCAGAGGAAGACGAGCAGA GAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCG GTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAG GGAGATGAGCAGGGAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGAC GAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAG AGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGG CTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCC GGTGGATCCCGGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGA TCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGG AGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAG ACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGC AGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAG GGAGGAGGCTGCCCGGTGGATCCTGGAGGAAGACGAGCAGAGAGGGAGGA GGCTGCC	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK1_chr13_35763652_36136382	35958284	G G	GCTATAAC others(828): Show GCTATAACCATCACCACTACCACTACTACCACTACTACAACCATTACCAC CATCACTGCTATAACCACCACCACCACCACTATAACCATCACCACCATCA CCACTATAACCACCACTACCACCACCACCACTATAACCACCACCACCACC ACTATAACCACCATCATCACCACCACCACTATAACCACCATCATCATCAC CACCACTACCACTACTGTAACCATCACCACCATCACCACTATAACCACCA CTACCACCACCACCACTATAACCACCACCACCACCACTATAACCACCATC ATCATCACCACCACTACCACTACTGTAACCATCACCACCACCACTGCTAT AACCATCACCACTACCACTACTACCACTACTACAACCATTACCACCATCA CTGCTATAACCACCACCACCACCACCATTATCACCATCACCATCACACAC CACAACTACCACCACCACCACCATCACCACTATAACCACTAGCACCACCA CTACTATAACCATCACCACCGCTATAACCACCATCACCACCACCACTACC ACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC CATCACTATAACCATCACCACCATCACCACTATAACCACCACTACCACCA CCACCATTATAACCATCACCACCACCACTATAACCACCATCATCATCACC ACCACTACCACTACTATAACCATCACCACCATCACTGCTATAATCACCAC CACCACCACCATCACTATAACCATCACCACCATCACCACTATAACCACCA CTACCACCACCACCATTATAACCATCACCACCACTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	83	0.0120	835	c.724 others(854): Show c.724-10828_724-10827insTAGTGGTGGTGATGGTTATAATGGTG GTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGAT GGTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAG TGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTT ATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGT TATAGTGATGGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGG TTACAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATG GTTATAGTAGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGT GGTAGTTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGT GGTGATGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGG TGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTG GTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGATGG TGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTG GTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTGGTGGTTAT AGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGA TGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DOCK1_chr10_126900428_127457516	126947266	C C	CTACTGTT others(828): Show CTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGA TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTATT ACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATG GTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTA TTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0002 a0001c0049t0002	a0001c0049t0002g0017 a0001c0049t0002g0017	1	131	0.0076	835	c.47- others(852): Show c.47-23391_47-23390insATGATGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTT GGTGGTGGTGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTAG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DPP6_chr7_154047398_154899285	154062984	T T	TTACGATC others(828): Show TTACGATCCGACGGGTCCGAATGCAGCTCGGGAACAGAAAGAAAGCAGGT TATTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCT TAGGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTGCAGTATTAGC CGAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGACCCGGAACTTTTGAA ATGGGGATCCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCAATCTGACAAAGCCTTTTCCATTG TGTGCGTCAGAGAGAGAAAAGACGGCAGCTGAAATTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGCAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTAGAGGGCCTTGGCAGCAACTGCCCTG CTAGTGCAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACATAAA GGGCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTTCCCCCCTGGCT GTTGGGACCCCCATCGCAGGGAGGGAGGCACCCGCCACGAGGCAGGGAAT GAGAGCCAGTCCCTCTTCCCCCCTGGCTCTGAGGACCCCCATCGCAGGAG GGGGAGGCACCCCCAATGAGAGTGGGCACTGAGAGCTATCCCCTCTTCCG CCCCTGGCTGTTAGTACTCCCATCGCAGGGGGGGAGGAACCCCTCGCGAC GCGGGGACTGAGAGCGAGCCCCTCTTCCCCCCTTTGCTCTTAGGACCCCC ATCGCTGGGGGCGGAGGCACCCCCCACGAGGCAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0004 a0002c0009t0004g0004	1	28	0.0357	835	c.243 others(852): Show c.243+9921_243+9922insTACGATCCGACGGGTCCGAATGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTGCAGTATTAGCCGAGCCTTTGTATGAGGTCACAAAGGGGG CGGGGACCCGGAACTTTTGAAATGGGGATCCCAACAACAGCAAGTTTTTC ATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCAAT CTGACAAAGCCTTTTCCATTGTGTGCGTCAGAGAGAGAAAAGACGGCAGC TGAAATTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGCAGCCTACG TCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTAGAGG GCCTTGGCAGCAACTGCCCTGCTAGTGCAAGAAGCAAATAAGCTGATTCT TGGGCAAAACCTGAACATAAAGGGCCCCCATTTTGTGATGGCTGAGATCC ATCCCCTCTTCCCCCCTGGCTGTTGGGACCCCCATCGCAGGGAGGGAGGC ACCCGCCACGAGGCAGGGAATGAGAGCCAGTCCCTCTTCCCCCCTGGCTC TGAGGACCCCCATCGCAGGAGGGGGAGGCACCCCCAATGAGAGTGGGCAC TGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTAGTACTCCCATCGCAGG GGGGGAGGAACCCCTCGCGACGCGGGGACTGAGAGCGAGCCCCTCTTCCC CCCTTTGCTCTTAGGACCCCCATCGCTGGGGGCGGAGGCACCCCCCACGA GGCAGGG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(828): Show CATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCCGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	190	0.0053	835	c.215 others(852): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCGCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAT CCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTG GGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGATGCTGTGTTC TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCT GGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAG GCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCT GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC TCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377913	C C	CATGGAGG others(828): Show CATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGA ATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAA GCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCT GGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTT GTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGTGCTGC TGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCA GGCACGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAAT GACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGC CGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAATGACCCTGG GTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0136 a0001c0005t0001g0136	1	190	0.0053	835	c.215 others(852): Show c.2155-776_2155-775insATGGAGGAAGGAGCAGGCGCGAGCTCTT CTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAAGCTGTGTTGTGTGAATGACCCTGGGTGTC AAGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCTGTGTTGTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATG CTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGA GCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGCGAGTGCTGCTGGGAAGCTGTGTTGTGTGAATGACCCTG GGTGTCAAGGAGGAAGGAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTG TGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCT GGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAG GCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCAT GGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGATGCT GTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGG TGTCATG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
EML5_chr14_88607431_88797953	88796329	A A	ATATATAT others(828): Show ATATATATATTATATGTTATATATTTTATATATATATTATATGTTATATA TATTATATATATATTATATGTTATATATTTTATATATATATTATATGTTA TATATATTATATATATTTTATATATATATTATGTTTATATATTATATATA TTATATATATTATATGTTATATATATTATATATATTATATATCTTATATG TTATATATATTATATATATATTATGTTATATATATTATATATATTATGTT ATATATAATATATATTATATGTTATATATGTTATACATATTATATGTTAT ATGTTATATATATTATATATGTTATATGTTATATATTATATATATTATGT ATATTATATGTTATATATATTATATATATTATGTATATTATATGTTTTAT ATATTATATATTATATATATTATATGTTTTATATATTATATATTATATAT ATTATATGTTATATATATTATATATTATATACATTATATGTTATATATAT TATATATTATATATATTATATGTTATATATATTATATATTATATATATTA TATGTTATATATATTATATATTATATATATTATATGTTATATATATTATA TATTATATATATTATATGTTATATATATTATATATTATATATATTATATG TTATATATATTATATATTATATATATTATATGTTATATATATTATATATA TTATATATATATTATATGTTATATATATTATATATATATTATATGTTATA TATATTATATATATATTATATGTTATATATATTATATATATATTATATGT TATATATATTATATATATATTATATGTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0076 a0001c0001t0009g0076	1	268	0.0037	835	c.-38 others(846): Show c.-3827_-3826insATATATATAACATATAATATATATATAATATATA TAACATATAATATATATATAATATATATAACATATAATATATATATAATA TATATAACATATAATATATATATAATATATATAACATATAATATATATAT AATATATATAATATATATAACATATAATATATATAATATATAATATATAT AACATATAATATATATAATATATAATATATATAACATATAATATATATAA TATATAATATATATAACATATAATATATATAATATATAATATATATAACA TATAATATATATAATATATAATATATATAACATATAATATATATAATATA TAATATATATAACATATAATGTATATAATATATAATATATATAACATATA ATATATATAATATATAATATATAAAACATATAATATATATAATATATAAT ATATAAAACATATAATATACATAATATATATAATATATATAACATATAAT ATACATAATATATATAATATATAACATATAACATATATAATATATATAAC ATATAACATATAATATGTATAACATATATAACATATAATATATATTATAT ATAACATAATATATATAATATATATAACATAATATATATATAATATATAT AACATATAAGATATATAATATATATAATATATATAACATATAATATATAT AATATATATAATATATAAACATAATATATATATAAAATATATATAATATA TATAACATATAATATATATATAAAATATATAACATATAATATATATATAA TATATATAACATATAATATATATATAAAATATATAACATATAATATATAT A	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3377		chr14	TogoVar
EXD3_chr9_137301896_137428162	137329795	G G	GGCTACAC others(828): Show GGCTACACGGGACTACACGGGGTGACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACGG GGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACG GGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACA CGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCTAC ACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGACTA CACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCT ACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGC TACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGG CTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGG GCTACACGGGACTACACGGGAGCTACACGGGACTACACGGGACTACACGG GACTACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACAG GAACTACACAGGGTCACACAGGACTACACCGGAGCTACACGGGACTACAC AGGACTACACAGGACTATGCAGGACCACACAGGAGCTATACAGGAGCTAC ACGGGACTACACAGGACTACACGGGACTACACCGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	40	0.0250	835	c.199 others(854): Show c.1999-5653_1999-5652insTCCGGTGTAGTCCCGTGTAGTCCTGT GTAGTCCCGTGTAGCTCCTGTATAGCTCCTGTGTGGTCCTGCATAGTCCT GTGTAGTCCTGTGTAGTCCCGTGTAGCTCCGGTGTAGTCCTGTGTGACCC TGTGTAGTTCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACC CTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGC CCCGTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAG CCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTA GTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGT AGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTG TAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTG TAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCC GTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCC CGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTC CCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTCACCCCGTGTAGTC CCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FAM120C_chrX_54063324_54188254	54117354	A A	AAAAATAA others(828): Show AAAAATAAAATAAAATAAAATAACATAAAATAACATAAAATAACATAAAA TAACATAAAATAACATAAAATAACATAAAATAACATAAAATAACATAAAA TGAAATAAAATGAAATAAAATGAAATAAAATGAAATAAAATGAAATAAAA TGAAATAAAATGAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0179 a0001c0001t0031g0179	1	26	0.0385	835	c.206 others(852): Show c.2063-561_2063-560insATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTCATT TTATTTCATTTTATTTCATTTTATTTCATTTTATTTCATTTTATTTCATT TTATTTCATTTTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATT TTATGTTATTTTATGTTATTTTATGTTATTTTATGTTATTTTATTTTATT TTATTTT	FAM120C	ENSG00000184083.12	transcript	ENST00000375180.7	protein_coding	9/15			chrX	TogoVar
GALNT17_chr7_71127144_71718599	71680266	C C	CTCTCCCT others(828): Show CTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCTCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTGTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTC CTCCCTCCCTCTCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCTT CCTCCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCTCCC TCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	74	0.0135	835	c.150 others(854): Show c.1500+2960_1500+2961insTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCTCTCCCTGTCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC TCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTC TTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCTTCCTCCCCTCCCTCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CTCTCCCTG	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GAPVD1_chr9_125256826_125372207	125265636	C C	CTCCTGAC others(828): Show CTCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCGGGGTTAT AGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTATGT TGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTAGA AAGGGGTATTGGTGCTAGAATTAACATTGAATTATCAGTATAACTGATTA GTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTGAGA TTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAAAAA AATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCAGCA CTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAGACC AGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAATTAG CTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTGAGG CAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAGATC GCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAAAAA AAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTCTGTC GCTCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTCTGCC TCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACT ACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGG CGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19088.hp2 NA19079.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0315 a0001c0001t0001g0316	2	161	0.0124	835	c.-19 others(854): Show c.-198-3279_-198-3278insGCCTTGGCCTCCCAAAGTGCGGGGTT ATAGACCGCACCCAGCTGCATTGTTTCTTAATTGCTCTCTTATTCAGTAT GTTGAGGGCCACAAATTTGCTTCTGTCAAAATGAAAGCAAAGGAGCTCTA GAAAGGGGTATTGGTGCTAGAATTAACATTGAATTATCAGTATAACTGAT TAGTAATCAAGGAAGTGAAAGCCAAAATAAGTGAAAATGCATCAGATTGA GATTTCAGATTGATAACAAATCTAATGTTTTTCACATCAGATTGATAAAA AAAATTTTCATGTCTGGGCTGGGTGCAGTGGCTTACGTCTGTAATCCCAG CACTTTGGGAGGCCGAGATGGGCGGATCACCTGAGGTTATGAGTTCGAGA CCAGGCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATAAAAAATT AGCTAGGTGTGGTGGTGCATGTCTGTAATCCCAGCTACTTGGGAGCTTGA GGCAGGAGAATCCCTTGAACCCGGGAGGTGGAGCTTGCGGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCGGGGCGACAGAGCCAGACTCCACCTCAAA AAAAATTTTTTTTTTCTTTTCTTTTTTTTTTGAGGCGGAGTCTGGCTCTG TCGCTCCGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAAGCTCTG CCTCCTGGGTTGACACCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGA CTACAGGCGCCCGCTGCCATGCCTGGCTAATTTTTTGTATTTTTAGTAGA GGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATATCCTGACCTCGT GATCTGCCC	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(828): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATTATATATCTTATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATATAATATACATTATATATAATGTATATTATATATAATATACATTA TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATATTACATATAATATACATTA TATATAATGTATATTATATGTAATATATACATTACATACAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATATAATGTATATTATATGTAATATATACATTACATATAATGTATAT TATATGTAATATATACATTACATAATGTATATTATATGTAATATATACAT TACATAATATATACATTGTATATAATGTATATTATATATAATATATACAT TGTATATAATGTATATTATATATAATATATACATTGTATATAATGTATAT TATATATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	132	0.0076	835	c.94- others(848): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATTATATATCTTATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ATATATAATATACATTATATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATATT ACATATAATATACATTATATATAATGTATATTATATGTAATATATACATT ACATACAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATATAATGTATATTATATGTAATATATACA TTACATATAATGTATATTATATGTAATATATACATTACATAATGTATATT ATATGTAATATATACATTACATAATATATACATTGTATATAATGTATATT ATATATAATATATACATTGTATATAATGTATATTATATATAATATATACA TTGTATATAATGTATATTATATATAATATATACATTGTATATAATGTATA TTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HBQ1_chr16_175459_186179	186102	G G	GGGAACAG others(828): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGG AGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	298	0.0034	835	c.49 others(846): Show c.4994_*4995insGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA GGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG A	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4924		chr16	TogoVar
HDAC4_chr2_239043168_239406020	239124755	T T	TGTTATGT others(828): Show TGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCCACGTTATATGACATT CCGGTGTGCCGGCGTGTGGCCGCGTTATATGACATTCCGGTGTGCCAGCG TGTGGCCGTGTTATATGACATTCCATGTTATGTGACATTCTGGTGTGCTG GCGTGTGGCTACGTTATATGACATTCCACGTTATATGACATTCCGGAGTG CCGGCGTGTGGCCGCATTATATGACATTCTGGTGTGCCGGCGTGTGGCCG CGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTGCGG CCGCGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGCGTG TGGCCGCGTTATATGACATTCCACGTTATGTGACATTCCGGTGTGCTGGC GTGCGGCCGCGTTATATGACATTCTGGTGTGCCGGCGTGTGGCCGCGTTA TATGACATTCCATGTTATGTGACATTCCGGTGTGCTGGCGTGTGGCTGCG TTATATGACATTCCATGTTATGTGATATTCCGGTGTGCCGGCGTGTGGCC ACGTTATATGACATTCCGGTGTGCCGGCGTGTGGCCGCGTTATATGACAT TCCGGTGTGCCAGCGTGTGGCCGTGTTATATGACATTCCATGTTATGTGA CATTCTGGTGTGCTGGCGTGTGGCTACGTTATATGACATTCCACGTTATA TGACATTCCGGAGTGCCGGCGTGTGGCCGCATTATATGACATTCTGGTGT GCCGGCGTGTGGCCGCGTTATATGACATTCCACGTTATGTGACATTCCGG TGTGCTGGCGTGCGGCCGCGTTATATGACATTCCAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0062 a0001c0004t0062	a0001c0004t0062g0077 a0001c0004t0062g0077	1	18	0.0556	835	c.153 others(854): Show c.1533+1700_1533+1701insGTGGAATGTCATATAACGCGGCCGCA CGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATATAACGCGGCC ACACGCCGGCACACCAGAATGTCATATAATGCGGCCACACGCCGGCACTC CGGAATGTCATATAACGTGGAATGTCATATAACGTAGCCACACGCCAGCA CACCAGAATGTCACATAACATGGAATGTCATATAACACGGCCACACGCTG GCACACCGGAATGTCATATAACGCGGCCACACGCCGGCACACCGGAATGT CATATAACGTGGCCACACGCCGGCACACCGGAATATCACATAACATGGAA TGTCATATAACGCAGCCACACGCCAGCACACCGGAATGTCACATAACATG GAATGTCATATAACGCGGCCACACGCCGGCACACCAGAATGTCATATAAC GCGGCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCATAT AACGCGGCCACACGCCAGCACACCGGAATGTCACATAACGTGGAATGTCA TATAACGCGGCCGCACGCCAGCACACCGGAATGTCACATAACGTGGAATG TCATATAACGCGGCCACACGCCGGCACACCAGAATGTCATATAATGCGGC CACACGCCGGCACTCCGGAATGTCATATAACGTGGAATGTCATATAACGT AGCCACACGCCAGCACACCAGAATGTCACATAACATGGAATGTCATATAA CACGGCCACACGCTGGCACACCGGAATGTCATATAACGCGGCCACACGCC GGCACACCGGAATGTCATATAACGTGGCCACACGCCGGCACACCGGAATA TCACATAAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	12/26			chr2	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(828): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0323 a0001c0001t0003g0323	1	320	0.0031	835	c.666 others(852): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322429	T T	TATATATA others(828): Show TATATATATGCAGTATATATATATGAATATATATATGGAATATATATGGA ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATG GAATATATATATGGAATATATATATGGAATATATATATATGTGGAATATA TATATGGAATATATATATGTGGAATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATAT GTGTATATGGAATATATACATGGAATATATGTATATGGAATATATACATG GAATATATATATGGAATATATACATGGAATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATGGAATA TATACATGGAATATATATATATAGAATATATACATGGAATATATATATGG AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAACATATACATGGAATATATACATGGAACATAT ACATGGAATATATATATATGGAACATATACGGAATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAATATATATACGGAATATATATATGGAATATATATATGGAATATG TATATGGAATATATATATATGGAATATGTATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	295	0.0034	835	c.-26 others(846): Show c.-2627_-2626insATATATATGCAGTATATATATATGAATATATATA TGGAATATATATGGAATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATGGAATATATATATGGAATATATATATGGAATATATA TATATGTGGAATATATATATGGAATATATATATGTGGAATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAC ATGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATGTGTATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATATATGGAATATATACATGGAATATATA TATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATAGAATATATACAT GGAATATATATATGGAATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATACATGGAATATATACATGGAACATATACATGGAATAT ATACATGGAACATATACATGGAATATATATATATGGAACATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATATGGAATATATA TACGGAATATATATATATGGAATATATATACGGAATATATATATGGAATA TATATATGGAATATGTATATGGAATATATATATATGGAATATGTATATGG A	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2540		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(828): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATG TATATACGGAATATATATATATGGAATGTATATACGGAATATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATATGGAATATATATACGGAATATATATATATGGAATATATATACGGA ATATATACATATGGAACATATATATACGGAATATATACATATGGAACATA TATATGGAATATATACATATGGAACATATATATGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATACATATGGAACATATATATGGAAT ATATACATATGGAACATATATATGGAATATATACATATGGAACATATATA TGGAATATATACATATGGAACATATATATGGAATATATACATATGGAACA TATATATGGAATATATATATATGGAACATATATATGGAATATATATATAT GGAACATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	62	0.0161	835	c.-21 others(846): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATACGGAA TATATATACGGAATGTATATACGGAATATATATATATGGAATGTATATAC GGAATATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATATGGAATATATATACGGAATATATATATATG GAATATATATACGGAATATATACATATGGAACATATATATACGGAATATA TACATATGGAACATATATATGGAATATATACATATGGAACATATATATGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATACATATGGA ACATATATATGGAATATATACATATGGAACATATATATGGAATATATACA TATGGAACATATATATGGAATATATACATATGGAACATATATATGGAATA TATACATATGGAACATATATATGGAATATATATATATGGAACATATATAT GGAATATATATATATGGAACATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG G	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775141	A A	AGAGGGGC others(828): Show AGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGG GGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAG GACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	192	0.0052	835	c.978 others(852): Show c.978-2521_978-2520insAGAGGAGGGGCAGGGAGAGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGG GCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161748	A A	AGACCCCT others(828): Show AGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCT GTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAG ACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCCGGACCCCTGTCCCCAGACCCCTGTCCCCAG ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCCGTCCCCACA CCCCCGTCCCCAGACCCCTGTCCCCACACCCCCGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCAGACCCCCGTCCCCAGACCCCCGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACAGCCCTGTCCCCACACCCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	279	0.0036	835	c.-59 others(844): Show c.-599_-598insCCGGGGACAGGGGTGTGGGGACAGGGCTGTGGGGAC AGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTGTGGGGACGGGGGTCTGGGGACGGGGGTCTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGGGACGGGGG TGTGGGGACGGGGGTGTGGGGACGGGGGTGTGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGT CTGGGGACAGGGGTCTGGGGACAGGGGTCCGGGGGACAGGGGTCTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		540		chr11	TogoVar

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