Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
TWIST2_chr2_238843085_238915534	238870633	C C	CCACACAC others(602): Show CCACACACCACACCCCACACACACCACACACCCCCCACACACCACACACC CCACACACACCACACCCCACACACACCACACCCCATACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCATACACACCACACACCCCCC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACACCCCATACACACCACACACCCC CCACACACCACACCCCATACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACACCCCCCACACACCACACCCCAT ACACACCACA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	91	0.0110	609	c.35 others(628): Show c.35+21901_*35+21902insACACACCACACCCCACACACACCACA CACCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCATACACACCACACCCCACACACACCACACA CCCCCCACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC CCATACACACCACACACCCCCCACACACCACACCCCACACACACCACACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACA CCCCATACACACCACACACCCCCCACACACCACACCCCATACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACCACACCCCATACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(602): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAACATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATATTATATA ATAATATAATATATATTATTATATATATTATATAATAATATAATATATAT TATTATATATTATTATATATAATTATATATAATAATATAATATATATAAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATAATATATATTATTATATATAATTATATATAATATATATATATT ATTATATATAATTATATATAATAATATATATATATTATTATATATAATTA TATATAATAATATATATATATTATTATATATTATTATATATAATAATATA ATATATTATTATATATTATTATATATAATAATATAATATATATTATATAT TATTATATATAATAATATAATATATATTATATATTATTATATATAATAAT ATAATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	223	0.0045	609	c.392 others(626): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATTATTATATATAAT AATATATAATAATATATATATATTATTATATATAATTATATATAATAATA TATATATATTATTATATATAATTATATATAATAATATATATATATTATAT ATAATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATTATATATATTATATTA TTATATATAATTATATATAATAATATATAATAATATATATTATATTATTA TATAATATATATAATAATATATATTATATTATTATATAATATTATATATA ATAATATATATTATATTATTATATATAATTATATATAATATATATTATAT TATTATATATAATTATATATAATAATATATATTATGTTATTATATATAAT AATATATAATAATATATATTATGTTATTATATATAATAATATATAATAAT ATATATTATATTATTATATATAATAATATAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(602): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0286 a0001c0002t0002g0286	1	25	0.0400	609	c.483 others(624): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTC CCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(602): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTAT ATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGT TATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACA TAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGT ATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGT TATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACT TGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATA ACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATAT TGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTA TGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02055.hp2 NA19090.hp2 others(1): Show HG00741.hp2 HG02055.hp2 NA19090.hp2 NA20300.hp2	a0003 a0007 a0009 a0003 a0007 a0009	a0003c0003 a0007c0007 a0009c0010 a0003c0003 a0007c0007 a0009c0010	a0003c0003t0002 a0007c0007t0002 a0009c0010t0006 a0003c0003t0002 a0007c0007t0002 a0009c0010t0006	a0003c0003t0002g0082 a0007c0007t0002g0033 a0009c0010t0006g0052 a0003c0003t0002g0082 a0007c0007t0002g0033 a0009c0010t0006g0052	4	305	0.0131	609	c.-42 others(620): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACAT AACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTA TATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTT ATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF516_chr18_76352682_76500242	76401740	T T	TCTCCACC others(602): Show TCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACC CCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTC CACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCC CCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACC ACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCACCA ACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCG CACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCCA CACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACC CCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACC CCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTC CACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCG CGCCGCACCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp2 others(7): Show HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG03453.hp1 HG03471.hp2 HG06807.hp1 NA19240.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0026 a0016c0049	a0001c0001t0009 a0001c0001t0033 a0001c0002t0039 others(5): Show a0001c0001t0009 a0001c0001t0033 a0001c0002t0039 a0001c0002t0043 a0001c0005t0027 a0001c0006t0028 a0001c0026t0052 a0016c0049t0093	a0001c0001t0009g0020 a0001c0001t0009g0077 a0001c0001t0033g0021 others(7): Show a0001c0001t0009g0020 a0001c0001t0009g0077 a0001c0001t0033g0021 a0001c0002t0039g0122 a0001c0002t0043g0019 a0001c0005t0027g0079 a0001c0005t0027g0082 a0001c0006t0028g0280 a0001c0026t0052g0040 a0016c0049t0093g0075	10	342	0.0292	609	c.181 others(630): Show c.1811-21438_1811-21437insGGGTGCGGCGCGGGGCTGTGGTTG GTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGG AGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGG CTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGG GTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGT GGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGG TGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTT GGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTG GTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGC GGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGG AGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABCC6_chr16_16144565_16228494	16172211	A A	AGTGGGTG others(603): Show AGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGAGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGGATAAA TGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAATGAG TGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGTGG GATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATG GATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATG GGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGGGTGGGTG GGATGGCTAAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGAT AAATGGGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGGT GGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGA TGGCTAAATGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0012 a0012	a0012c0050 a0012c0050	a0012c0050t0001 a0012c0050t0001	a0012c0050t0001g0040 a0012c0050t0001g0040	1	334	0.0030	610	c.278 others(629): Show c.2787+1072_2787+1073insCCATTTAGCCATCCCACCCACCCATT TAGCCATCCCACCCACCCATTTATCCATCCCACCCACCCATTTATCCATC CCACCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCACCCAC CCATTTATCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTAT CCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCA CCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCA TTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCCATTTATCCA TCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCC ACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACCCACTCATTT AGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCCATCC CACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATCCATCCCACC CACTCATTTATCCATCCCACCCACTCATTTATCCATCCCACCTCATTTAT GCATCCCACCCACTCATTTATGCATCCCACCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289823	C C	CCGTGTCT others(603): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	285	0.0035	610	c.37 others(621): Show c.3740_*3741insACGGAGCAGGGACACGGGACGGAGCAGGGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACG GGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGA GACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAG CAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACTCGGGGGACGGAGCAGGGACACGGGACGGAGCA GAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGG AGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2567		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179278055	C C	CCCAGAGA others(603): Show CCCAGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCCCCCCGA GACCAAAGGCTGACCGCCCCCGAGACAAAAGGCTGACCACCCCCGAGACC AAAGGCTGACCCCCCTGAGACCAAAGGCTGACACCCCCCGAGACCAAAGG CTGACCCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTG ACCCCCCCCGAGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGAC ACCCCCCAGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCCCC CCGCGAGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGACACCCC CCAGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACACCCCCCAG AGACCAAAGGCTGACACCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGA CCAAAGGCTGACCTCCCCCCGAGACCAAAGGCTGACCTCCCCGCGAGACC AAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAG GCTGACCCCCGCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGG CTGACCCCCCA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0042 a0003c0042	a0003c0042t0001 a0003c0042t0001	a0003c0042t0001g0145 a0003c0042t0001g0145	1	274	0.0036	610	c.535 others(627): Show c.535-4992_535-4991insTGGGGGGTCAGCCTTTGGTCTCGGGGGG GGGGTCAGCCTTTGGTCTCGGGCGGGGGTCAGCCTTTGGTCTCGCGGGGG GTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGAGGTC AGCCTTTGGTCTCGGGGGGAGGTCAGCCTTTGGTCTCGGGGGGGGTCAGC CTTTGGTCTCGCGGGGGTGTCAGCCTTTGGTCTCTGGGGGGTGTCAGCCT TTGGTCTCGGGGGGGTCAGCCTTTGGTCTCTGGGGGGTGTCAGCCTTTGG TCTCGGGTGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGT CTCGGGGGGGTCAGCCTTTGGTCTCTGGGGGGTGTCAGCCTTTGGTCTCG GGTGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCG GGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGG TGTCAGCCTTTGGTCTCAGGGGGGTCAGCCTTTGGTCTCGGGGGTGGTCA GCCTTTTGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGTCAGCCTTTGGTCTCTGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(603): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CACCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CATCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCACTCA TCCATCCACCCATCCATTCGCCCACCCATTTACCTACCCATTAATTCACC CACCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCAC CCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCC ATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCA TCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp1 HG02572.hp1 others(2): Show HG01891.hp2 HG02451.hp1 HG02572.hp1 HG03516.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0021 a0002c0003t0084 a0002c0003t0008 a0002c0003t0021 a0002c0003t0084	a0002c0003t0008g0251 a0002c0003t0008g0252 a0002c0003t0021g0247 others(2): Show a0002c0003t0008g0251 a0002c0003t0008g0252 a0002c0003t0021g0247 a0002c0003t0021g0250 a0002c0003t0084g0249	5	11	0.4545	610	c.775 others(625): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGG ATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGT GGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGA TGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATG GTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(603): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0082 a0001c0001t0066g0082	1	209	0.0048	610	c.39 others(619): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT ATGTATAAATACGTACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(603): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACATATTTATACATATATGTATAAATACATATACATATTTAT ACATATATGTATAAATACATATACATATTTATACATATATGTATAAATAC ATATACATATATGTATAAATACATATACATATTTATACATATATGTATAA ATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0081 a0001c0001t0067g0081	1	209	0.0048	610	c.39 others(619): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACGTACATATTTATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATAT GTATAAATACATATACATATTTATACATATATGTATAAATACATATACAT ATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP21_chr10_24578614_24728887	24657080	G G	GCCCCCGG others(603): Show GCCCCCGGCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTC AGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCTCCGCCCAGCCAGCC GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGACGGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	350	0.0029	610	c.268 others(627): Show c.268+9904_268+9905insGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGTCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCGGAGG GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGCCGGGGG	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(603): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGG CAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	224	0.0089	610	c.36 others(621): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(603): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	296	0.0034	610	c.36 others(621): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(603): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	267	0.0037	610	c.36 others(621): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(603): Show GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAG GCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGC GTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGC CTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCCCCACC CCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	267	0.0037	610	c.36 others(621): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG GCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGC CCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82972057	T T	TAGAAGGA others(603): Show TAGAAGGACCTGGTACTGACCACACCACACCATGGGCCAGAAGGACCTGG TGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGATAGAAGGACCTGGTACTGACCACACCACACCACGGGCC AGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTG CCCACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGA CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACAC CACAGGGGCCAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCA CACCATGGGCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0033 a0001c0006t0033	a0001c0006t0033g0046 a0001c0006t0033g0046	1	106	0.0094	610	c.460 others(627): Show c.460-6312_460-6311insGGCCCATGGTGTGGTGTGGTCAGTACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGG TGTGGTCAGCACCAGGTCCTTCTGGCCCCTGTGGTGTGCTGTGGTCGGCA CCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTC TATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTG GTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGG TCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGG TCCTTCTGGCCCCTATGAGTGTGGTGTGGTGGGCACCAGGTCCTTCTGGC CCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCC ATGGTGTGGTGTGGTCAGTACCAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972057	T T	TAGAAGGA others(603): Show TAGAAGGACCTGGTACTGACCACACCACACCATGGGCCAGAAGGACCTGG TGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGATAGAAGGACCTGGTACTGACCACACCACACCACGGGCC AGAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTG CCGACCACACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACAC CACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTACTGACCACACCACACCACAGGGGATAGAAGGACCCAGTACTGA CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACAGCACAC CACAGGGGCCAGAAGGACCTGGTGCTGACCACACCACACCACAGGGGCTA GAAGGACCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGC CGACCACACCACACCACAGGGGCTAGAAGGACCTGGTACTGACCACACCA CACCATGGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18612.hp1 NA18964.hp1 HG00639.hp2 NA18612.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0037 a0001c0006t0006 a0001c0006t0023 a0001c0001t0037 a0001c0006t0006 a0001c0006t0023	a0001c0001t0037g0257 a0001c0006t0006g0039 a0001c0006t0023g0031 a0001c0001t0037g0257 a0001c0006t0006g0039 a0001c0006t0023g0031	3	108	0.0278	610	c.460 others(627): Show c.460-6312_460-6311insGGCCCATGGTGTGGTGTGGTCAGTACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGG TGTGGTCAGCACCAGGTCCTTCTGGCCCCTGTGGTGTGCTGTGGTCGGCA CCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACTGGGTCCTTC TATCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTG GTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGG TCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGG TCCTTCTGGCCCCTATGAGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGC CCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTATCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCC ATGGTGTGGTGTGGTCAGTACCAGGTCCTTCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(603): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGG CGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG AGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGA GGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	274	0.0036	610	c.465 others(625): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTC CCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCC GCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1185767	G G	GTAGGGGC others(603): Show GTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCGTGCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0030 a0030	a0030c0111 a0030c0111	a0030c0111t0029 a0030c0111t0029	a0030c0111t0029g0255 a0030c0111t0029g0255	1	194	0.0052	610	c.300 others(627): Show c.300-9186_300-9185insACGTGGGGGGCGGGTGAGTAGACGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCA GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCATAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185767	G G	GTAGGGGC others(603): Show GTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGC GTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGG TGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGCGTGCA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	194	0.0052	610	c.300 others(627): Show c.300-9186_300-9185insACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACG GCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTA GACGGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCATAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(603): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTT CCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01934.hp1 HG01168.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0002g0036 a0001c0001t0001g0034 a0001c0001t0002g0036	2	128	0.0156	610	c.244 others(629): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAG GAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(603): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	243	0.0041	610	c.666 others(625): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(603): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	12	0.0833	610	c.-45 others(631): Show c.-455+14589_-455+14590insCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(603): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCC CCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTC CCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTC CTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTC CTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCC CTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCT CCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	610	c.69 others(621): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC TCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCC CTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCC CCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTC CCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTT CCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACC CTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCC CCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(603): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTT CCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCT TTCCTTCCTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTT CCTTCCCTTCCTCCCTCCCTCCCTACCTCCCTCCCTCCTTCCTTCCCTTC CTCCCTCCCTCCCTTCTTTACTTCCTTCCTCCTTCCCTCCTCCTTTCCTC CATCCTTCCCTCCCTTCTTTCCTTTCTTCCTCCTGCCCTCCCTCCTTCTT TCCCTTCCTCCCTCCCTTCCTTCCCATCCTCCTTCCCTCCCTCCTTCCTT CCTGCCTTCCTTCCTTCCCTCCATCCTTCCTTCCTTCCTTTCTTCCTCCC TCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCC ATCTTTCCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0024 a0002c0002t0002g0024	1	2	0.5000	610	c.321 others(629): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCT TTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTC CCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCCTTCC TTTCTTTCTCCCTCCCTTCCTTCCCTTCCTCCCTCCCTCCCTACCTCCCT CCCTCCTTCCTTCCCTTCCTCCCTCCCTCCCTTCTTTACTTCCTTCCTCC TTCCCTCCTCCTTTCCTCCATCCTTCCCTCCCTTCTTTCCTTTCTTCCTC CTGCCCTCCCTCCTTCTTTCCCTTCCTCCCTCCCTTCCTTCCCATCCTCC TTCCCTCCCTCCTTCCTTCCTGCCTTCCTTCCTTCCCTCCATCCTTCCTT CCTTCCTTTCTTCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTC CTTCCCTCTTTTCCTTCCATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT3_chr19_54132762_54160681	54133769	C C	CTCTCCCT others(603): Show CTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	196	0.0051	610	c.-42 others(621): Show c.-4275_-4274insTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCTCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3992		chr19	TogoVar
COL5A1_chr9_134636803_134849843	134729536	A A	ATGCGGGC others(603): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGTGAGAGTGTGTGTGA GCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGT GTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGT GAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGT GTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGA GCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGT GTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGA GCGCGTGTGCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0005 a0001c0003t0007g0005	1	214	0.0047	610	c.925 others(625): Show c.925-666_925-665insTGAGAGTGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGG TGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGG CACGGGTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRTC3_chr15_90524923_90650345	90647631	T T	TCATCCTC others(603): Show TCATCCTCCACACTCCTCCCCTCCACACCCCTCCTCCTCTACAACCCGCC TCCTCCTCCACACCCCTCCCCCTCACCTCTCCTCCTCCACACTCACTCCT CCACACCCCTCCTCCTCACCCCTCCTCAACCTCCACACCACACCCCCTCC ACTCCCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCC CTCCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTT TCCCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTC CTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACA CCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTC TTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCAC ACCCCTCCTCCTCCACACCCCTCCTTCTCAACCCTCCTCCTCCTCAACCC TCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCT CCTCCTCACCCTTTGTCCTACTCCACACCCCTTCTCCTCCTCCATACCCC TCCTTCTCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0024 a0002c0002t0003g0024	1	265	0.0038	610	c.54 others(621): Show c.5491_*5492insCATCCTCCACACTCCTCCCCTCCACACCCCTCCT CCTCTACAACCCGCCTCCTCCTCCACACCCCTCCCCCTCACCTCTCCTCC TCCACACTCACTCCTCCACACCCCTCCTCCTCACCCCTCCTCAACCTCCA CACCACACCCCCTCCACTCCCCGCTCCTCACCTCTCCCCTCCCTCACCCC TCCTCCTCCACACCCCTCCTCCTCCTCCACATCCCTACCCCTCCACACCC CTCCCACCTCACTTTTCCCCCTTCACACACCTCCTCAACCTTCACATCCC TCCCCCTCCACATTCCTTCCCCCTCCTCACCCCTCTCCCCTCATCACCTC TCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCTCCACACCC CTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTTCTCAACCCT CCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCC CTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTACTCCACACCCCTTCT CCTCCTCCATACCCCTCCTTCTCAAC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2287		chr15	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(603): Show TGTACATATATGTGTATATACGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTATATATGTATATACACA TATATTTGTGTACATATATGTGTGTATATGTGTGTGTATATACACATATA TGTATATACACACACATATACACACATATATGTACACATATATGTATATA CACACATATATACACACATATGTGTACATATATGTGTATATACGTATATA CACATATATATGTGTACATATATGTGTATATATGTATATACACATATATA TGTGTACATCATATGTGTGTATATATATGTGTGTATATACATATATGTGT ACATATATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACAC ACACATATACACACATATATGTACACAAATATATGTGTATATACATATAT TACACATATATATGTGTATATACATATATACACATATATGTACACATATA TATGTGTATATACGTATATACACATATATGTACACATATGTGTGTGTATA TATGTGTGTATATACATATATGTGTATATACGTATATACACATGTGTATA TACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	610	c.19 others(621): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATACACACATATATACACACACATATGTGTACAT ATATGTGTATATACGTATATACACATATATATGTGTACATATATGTGTAT ATATGTATATACACATATATATGTGTAATATATGTATATACACATATATT TGTGTACATATATGTGTGTATATGTGTGTGTATATACACATATATGTATA TACACACACATATACACACATATATGTACACATATATGTATATACACACA TATATATACACACATATGATGTACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACGTATATACACATATAT GTACACATATGTGTGTATATATGTGTGTATATACATATATGTGTACATAT ATGTGTGTATATGTGTGTGTATATACATATATGTGTATATACACACACAT ATACACACATATATGTACACAAATATATGTGTATATACATATATACACAT ATATATGTGTATATACATATATACACATATATGTACACATATATATGTGT ATATACGTATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
DOCK8_chr9_209865_470255	321225	T T	TCAGAGAT others(603): Show TCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCC AGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCAC GGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGAC CGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCT CAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAG ATGGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTC TGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAA AGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACA CTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAAC CTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCT GGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGAC CAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCA GGTTCTGTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0073 a0004c0073	a0004c0073t0001 a0004c0073t0001	a0004c0073t0001g0092 a0004c0073t0001g0092	1	252	0.0040	610	c.827 others(627): Show c.827+4120_827+4121insGGACCGAACACTCACGGAAAAAGCCCAG GTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCGAACACTCACGG AAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCGGACCG AACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCA AAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGAT GGCTGGGCTCAAAACCGGACCGAACACTCACGGAAAAAGCCCAGGTTCTG TGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAG CCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCTGACCGAACACT CACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGGGCTCAAAACCT GACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGATCAGAGATGGCTGG GCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGGTTCTGTGACCA GAGATGGCTGGGCTCAAAACCTGACCGAACACTCACGGAAAAAGCCCAGG TTCTGTGACCAGAGATGGCTGGGCTCAAAACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(603): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCACCTCCACCACCATCACCACTATCA CCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCCCAT CACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCACCTC CACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCAGCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACGACCACCACCACCATC ATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACCACC TCCACCACCACCACCTTCACCCCCACCGTCACCTCCACCACCACCTCCAT TACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCACTA TCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCATTA CCTCCACAATT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0012 a0002c0008t0012	a0002c0008t0012g0001 a0002c0008t0012g0001	1	2	0.5000	610	c.113 others(629): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCACCTCCACCACCATCACCAC TATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCC CCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATC ACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCTCCACCACCAG CACCACAACTACCCCCACCATCACCTCCATCACCTCCACGACCACCACCA CCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCA CCACCTCCACCACCACCACCTTCACCCCCACCGTCACCTCCACCACCACC TCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCAC CACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTC CATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(603): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCACCATC ATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACCACC TCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACCTCCAT TACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCACTA TCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCATTA CCTCCACAATT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0021 a0002c0012t0021	a0002c0012t0021g0035 a0002c0012t0021g0035	1	2	0.5000	610	c.113 others(629): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCAC CACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCA CCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCA CCACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACC TCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCAC CACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTC CATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(603): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACGACCACCACCACCATC ATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACCACC TCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACCTCCAT TACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCACTA TCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCATTA CCTCCACAATT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19043.hp1 NA19043.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0018 a0002c0014 a0002c0023 a0001c0018 a0002c0014 a0002c0023	a0001c0018t0009 a0002c0014t0025 a0002c0023t0014 a0001c0018t0009 a0002c0014t0025 a0002c0023t0014	a0001c0018t0009g0023 a0002c0014t0025g0029 a0002c0023t0014g0017 a0001c0018t0009g0023 a0002c0014t0025g0029 a0002c0023t0014g0017	3	4	0.7500	610	c.113 others(629): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCACCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCAC CACCACAACTACCCCCACCATCACCTCCATCACCTCCACGACCACCACCA CCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCA CCACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACC TCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCAC CACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTC CATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(603): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCACCATC ATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCACCACC TCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACCTCCAT TACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCACCACTA TCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTCCATTA CCTCCACAATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18747.hp1 HG00558.hp1 NA18747.hp1	a0001 a0001	a0001c0017 a0001c0025 a0001c0017 a0001c0025	a0001c0017t0020 a0001c0025t0001 a0001c0017t0020 a0001c0025t0001	a0001c0017t0020g0033 a0001c0025t0001g0018 a0001c0017t0020g0033 a0001c0025t0001g0018	2	3	0.6667	610	c.113 others(629): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCAC CACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCACCACCA CCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCA CCACCTCCACCACCACCACCATCACCCCCACCGTCACCTCCACCACCACC TCCATTACCTCCACAACTTCTACCACCACCACCCCCACCACCACCAGCAC CACTATCACCACTATCACCACCACCCCCACCATCACCTCCACACCACCTC CATTACCTCCACAATTTCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1A2_chr20_63483014_63504083	63486940	C C	CTTCCCCC others(603): Show CTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCCC CCCCGACCCTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCAC CCTCCTCCGCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCT CTGCATCCTCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGG AGCCTGCCCACCCTCCACCCAGACCCTCCTCTGCATCCTCAGGGAAGCTG CCCAACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCATCC TCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCC CACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTC CTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAGACCCTCCTCTGC ATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCTGCATCCTCA GGGGAACCTGCCCATCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAAC CTGCCCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0070 a0001c0006t0002g0070	1	52	0.0192	610	c.13 others(621): Show c.1357_*1358insAGGTGGGGCAGGTTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGATGGGCAGGTTCCCCTGAGGATGCAGAGGAGGGTGGGG TGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGGAGGGTCTGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCA GGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCC TGAGGATGCAGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGAT GCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCAGAGG AGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGA GGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGG GCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATACAGAGGAGGGTCGGGGGGGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1073		chr20	TogoVar
EXD3_chr9_137301896_137428162	137329763	G G	GGGGCTAC others(603): Show GGGGCTACACGGGACTACACGGGGTCACACGGGACTACACGGGGTCACAT GGGGCTACACGGGACTACACGGGACTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGTCACAC GGGACTACACGGGACTACACGGGGCTACACGGGACTACACGGGGCTACAC GGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGTCACACGGGACTACAC GGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGCTACAC GGGACTACACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18999.hp1 HG02129.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0057 a0001c0001t0001g0060	2	63	0.0317	610	c.199 others(629): Show c.1999-5621_1999-5620insTGTGTAGTCCCGTGTAGCCCCGTGTA GTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTG ACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTA GCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTA GTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTA GTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTG ACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTG ACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTG ACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTG ACCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTG ACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCCGTGTA GTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCATGTGACCCCGTGTA GTCCCGTGTGACCCCGTGTAGTCCCGTGTAGCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAC others(603): Show TCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC CTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCC ACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTT TCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCT CCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATC CCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCC TCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCC CCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCC TTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0018 a0006c0006t0018	a0006c0006t0018g0228 a0006c0006t0018g0228	1	31	0.0323	610	c.119 others(627): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGGTGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAA AGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATG GGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGG AGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGG GGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGG GAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGG AAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGA TGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGGTGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FAM120B_chr6_170301758_170412067	170377053	A A	ACCCAGAC others(603): Show ACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGG TGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTC AGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAG AACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAG ACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTC CCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGT GCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTG CTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCGGGAGAACACA GGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCC GGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAT CCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCTCGGTGCTGTGCACAC GCGTCCCTAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01070.hp2 others(20): Show HG00099.hp2 HG00673.hp2 HG01070.hp2 HG01255.hp2 HG01256.hp1 HG01361.hp1 HG01433.hp1 HG03669.hp2 HG03710.hp2 HG04115.hp2 NA18947.hp2 NA18978.hp1 NA18982.hp2 NA18990.hp2 NA18998.hp1 NA19009.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19090.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0023 a0002c0003t0001 a0002c0003t0002 a0002c0003t0023	a0002c0003t0001g0133 a0002c0003t0002g0007 a0002c0003t0002g0105 others(19): Show a0002c0003t0001g0133 a0002c0003t0002g0007 a0002c0003t0002g0105 a0002c0003t0002g0107 a0002c0003t0002g0113 a0002c0003t0002g0114 a0002c0003t0002g0115 a0002c0003t0002g0117 a0002c0003t0002g0124 a0002c0003t0002g0125 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0134 a0002c0003t0002g0135 a0002c0003t0002g0138 a0002c0003t0002g0139 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0023g0137	23	282	0.0816	610	c.228 others(631): Show c.2284-11224_2284-11223insCGGGAGAACACAGGCTCACGCTGC TCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAG GCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCCCG GGAGAACACAGGCTCAGGCTGCTCGGTGCTGTGCACACGCGTCCCTAATC CCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG CGTCCCTAATCCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTG CTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCAC GCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAA CACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAATCCCAGAC GCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCC TAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGC ACACGCGTCCCTAATCCCAGACGCCCGGGAGAGCACCGGCTCACGCTGCT CGGTGCTGTGCACACGCGTCCCTAATCCCAGACGCC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170377430	T T	TGGGAGAA others(603): Show TGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGTGTCCCTAA ACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACA CGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCTC TGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTC ACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCTGGGAG AACACAGGCTCACGCTGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAG ACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTC CCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGT GCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTG CTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACA GGCTCACGCGGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCC GGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAA CCCAGACGCCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0103 a0001c0002t0004g0103	1	155	0.0065	610	c.228 others(631): Show c.2284-10817_2284-10816insTGTCCCTAAACCCAGACGCCCGGG AGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCC AGACGCCTGGGAGAACACAGGCTCACGCTGCTCTCTGCTGTGCACACGCG TCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCT GTGCACACGCGTCCCTAAACCCAGACGCCTGGGAGAACACAGGCTCACGC TGCTCTCTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACA CAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGC CCGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCACACGCGTCCCTA AACCCAGACGCCTGGGAGAACACAGGCTCACGCTGCTCGGTGCTGTGCAC ACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCTCACGCGGCTCG GTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGAGAACACAGGCT CACGCTGCTCGGTGCTGTGCACACGCGTCCCTAAACCCAGACGCCCGGGA GAACACAGGCTCACGCTGCTCGGTGCTGTGCACACG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FGL1_chr8_17859389_17900524	17882814	A A	AATATATA others(603): Show AATATATAGTATATAATATATTAAACAATATATAATATATAGTATATAAT ATATTAAACAATATATAATATATATCATATATAATATATTAAATAATATA TAATATATATCATATATAATATATTAAATAATATATAATATATATCATAT ATAATATATTAAATAATATATAATATATCTCATATATAATATATTAAATA ATATATATATATCTCATATATAATATATTAAATAATATATAATATATCTC ATATATAATATATTAAATAATATATAATATATATCATATATAATATATTA AATAATATATAATATATATCATATGTAATATATTAAATATATAATATATA TCATATGTAATATATTAAATATATAATATATATCATATGTAATATATTAA ATATATAATATATATCATATGTAATATATTAAATATAGAATATATATCAT ATATAATATATTAAATATAGAATATATATCATATATAATATATTAAATAT ATAATAATATATCATATATAATATATTAAATAATATATAATATATATCAT ATATAATATATTAAATAATATATAATATATATCATATATAATATATTAAA TAATATATAAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	174	0.0057	610	c.64- others(623): Show c.64-636_64-635insATTATATATTATTTAATATATTATATATGATA TATATTATATATTATTTAATATATTATATATGATATATATTATATATTAT TTAATATATTATATATGATATATTATTATATATTTAATATATTATATATG ATATATATTCTATATTTAATATATTATATATGATATATATTCTATATTTA ATATATTACATATGATATATATTATATATTTAATATATTACATATGATAT ATATTATATATTTAATATATTACATATGATATATATTATATATTTAATAT ATTACATATGATATATATTATATATTATTTAATATATTATATATGATATA TATTATATATTATTTAATATATTATATATGAGATATATTATATATTATTT AATATATTATATATGAGATATATATATATTATTTAATATATTATATATGA GATATATTATATATTATTTAATATATTATATATGATATATATTATATATT ATTTAATATATTATATATGATATATATTATATATTATTTAATATATTATA TATGATATATATTATATATTGTTTAATATATTATATACTATATATTATAT ATTGTTTAATATATTATATACTATATAT	FGL1	ENSG00000104760.17	transcript	ENST00000427924.5	protein_coding	2/7			chr8	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(603): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATATAAATATATATATATTTATATATATATAAATATATATATTTATATAT ATATACATATAAATATATATTTATATACATATAAATATATAATTATATAC ATATAAATATATATAATTATATACATATAAATATATATTTATATACATAT AAATATATATTTATATACATATAAATATATATATTTATATACATATAAAT TTATATACATATAAATATATATATTTATATTTATATACATATAAATATAA ATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0026 a0001c0004t0001g0026	1	28	0.0357	610	c.49 others(621): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATATTTATATATATATAAATATATATATTTATA TATATAAATATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATTTATATATATAAATATATATTTATATGTATATATGTATA TGTATTATATGTATATAAATATATATATTTATATGTTTGTAAATATATAT TTATATGTATGTAAATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATTTATATGTATATAAATATATATATTTATATGT ATATAATATACATACATATATATTATATACATATATATTTATATGTATAT AATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(603): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATATAAATATATATATATTTATATATATATAAATATATATATTTATATAT ATATACATATAAATATATATTTATATACATATAAATATATAATTATATAC ATATAAATATATATAATTATATACATATAAATATATATTTATATACATAT AAATATATATTTATATACATATAAATTTATATATTTATATACATATAAAT TTATATACATATAAATATATATATTTATATTTATATACATATAAATATAA ATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0127 a0002c0025t0001g0127	1	28	0.0357	610	c.49 others(621): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA AATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATATTTATATATATATAAATATATATATTTATA TATATAAATATATATATTTATATATATAAATATATATATTTATATATATA AATATATATATTTATATATATAAATATATATTTATATGTATATATGTATA TGTATTATATGTATATAAATATATATATTTATATGTTTGTAAATATATAT TTATATGTATGTAAATATATATTTATATGTATATAAATATATATATTTAT ATGTATATAAATATATATTTATATGTATATAAATATATATATTTATATGT ATATAATATACATACATATATATTATATACATATATATTTATATGTATAT AATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXP1_chr3_70949708_71588728	71435687	G G	GGGACGGA others(603): Show GGGACGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGGAGGGACGGAGGG AGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAAGAAG GGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAAAAAGGAGGGA GGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGG GAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGA CGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGG GAGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	11	0.0909	610	c.-16 others(631): Show c.-168+57738_-168+57739insGTCCCTCCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTT CCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCTTCCCTCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTC CCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCGTCC	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(603): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	128	0.0078	610	c.109 others(629): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(603): Show AACACCACCCCCACCACCCCCACACCACCCCCAACACCACCCCCACCACC ACCCCCACCACCCACCACCACCCACCACCACCACCCCCACCACCACCCCC ACCACCCCCACACCACCCCCACACCAGCCCCAACACCACCCCCACCACCA CCCCCACCACCCACCACCACCCACCACCACCACCCCCACCACCACCCCCA CCACCCCCCACACCGCCCACACACCAGCCCCAACACCACCCCCAACACCA GCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCACACCACCCCC ACACCACCCCCAACACCATCCCCAACACCACCCCCACCACCCCCACACCA CCCCCACACCACCCCCACCACCACCCCCACCACCCCCACACCACCCCCAC CACCACCCCCACCACCACCCCCACCACCCCCACACCACCCCCACACCACC CCCACCACCACCCCCACCACCCCCACACCACCCCCACACCACCCCCAACA CCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAG CCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAA CACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	67	0.0149	610	c.27 others(621): Show c.2795_*2796insACACCACCCCCACCACCCCCACACCACCCCCAAC ACCACCCCCACCACCACCCCCACCACCCACCACCACCCACCACCACCACC CCCACCACCACCCCCACCACCCCCACACCACCCCCACACCAGCCCCAACA CCACCCCCACCACCACCCCCACCACCCACCACCACCCACCACCACCACCC CCACCACCACCCCCACCACCCCCCACACCGCCCACACACCAGCCCCAACA CCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCAC CCCCACACCACCCCCACACCACCCCCAACACCATCCCCAACACCACCCCC ACCACCCCCACACCACCCCCACACCACCCCCACCACCACCCCCACCACCC CCACACCACCCCCACCACCACCCCCACCACCACCCCCACCACCCCCACAC CACCCCCACACCACCCCCACCACCACCCCCACCACCCCCACACCACCCCC ACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACAC CACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACC CCCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(603): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATATAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTATTCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0121 a0001c0005t0001g0121	1	70	0.0143	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATG TATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATA TGTAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(603): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTATTCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	70	0.0143	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATG TATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATA TGTAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(603): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCACATATAAATATATATAAATATACATGTA TATTTATTCAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0018 a0001c0003t0002g0018	1	169	0.0059	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATAAATATA TATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(603): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCACATATAAATATATATAAATATACATGTA TATTTATTCAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18990.hp1 NA19085.hp1 NA18981.hp1 NA18990.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0002g0016 a0001c0003t0002g0019 a0001c0003t0002g0038	3	171	0.0175	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATAAATATA TATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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