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
TWIST2_chr2_238843085_238915534	238909034	A A	ATTTGTGG others(195): Show ATTTGTGGTTGTGGTATGTGTATGTGGTGTTTATGTAGTGTGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGTGTATGTGGGGGTGTGGT GTGTTTGTGTGTGTGGTATTTGTGGTGTGTATGTACAGTGCGGGGTGTGT GTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGTGTATGTGGAGGTGTGGT GTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03195.hp1 HG03225.hp2 others(3): Show HG02572.hp1 HG03195.hp1 HG03225.hp2 HG06807.hp2 NA18971.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0001g0274 a0001c0001t0001g0316 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0274 a0001c0001t0001g0316 a0001c0001t0002g0231 a0001c0001t0002g0246 a0001c0001t0002g0315	6	15	0.4000	202	c.36 others(217): Show c.36-806_*36-805insTGTGGTTGTGGTATGTGTATGTGGTGTTTA TGTAGTGTGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGCTGTGTGTGT GTATGTGGGGGTGTGGTGTGTTTGTGTGTGTGGTATTTGTGGTGTGTATG TACAGTGCGGGGTGTGTGTAGTGTGTGGTATGTTTGTGTGGTGTGTGTGT GTATGTGGAGGTGTGGTGTGTT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBASH3A_chr21_42398902_42452684	42432404	T T	TTTCTGTA others(195): Show TTTCTGTAAGAATCTTCCATCAACTTCTCTGTGGATCATGGAGGAATGGT TCTCCATAGGAAGCAGTTACACTAGTGTGAATGCTTGGACAGGTCTTTTC ATCCCAGCAGCATATATATGTCATTTTGTTAGTGAATGCACCCCGACCTG TGGTCTCTGACCATGCCACTTCTGGCACATGCTGTACCTCTCAGTCTCAT CTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01167.hp1 HG01168.hp1 others(16): Show HG00642.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01433.hp1 HG02559.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp2 NA20805.hp2	a0002 a0004 a0005 others(2): Show a0002 a0004 a0005 a0010 a0013	a0002c0019 a0004c0008 a0004c0027 others(3): Show a0002c0019 a0004c0008 a0004c0027 a0005c0011 a0010c0028 a0013c0044	a0002c0019t0001 a0004c0008t0001 a0004c0008t0003 others(6): Show a0002c0019t0001 a0004c0008t0001 a0004c0008t0003 a0004c0027t0002 a0005c0011t0001 a0005c0011t0002 a0005c0011t0003 a0010c0028t0003 a0013c0044t0003	a0002c0019t0001g0167 a0002c0019t0001g0168 a0002c0019t0001g0169 others(13): Show a0002c0019t0001g0167 a0002c0019t0001g0168 a0002c0019t0001g0169 a0004c0008t0001g0289 a0004c0008t0003g0042 a0004c0008t0003g0264 a0004c0008t0003g0267 a0004c0027t0002g0263 a0005c0011t0001g0023 a0005c0011t0001g0024 a0005c0011t0001g0085 a0005c0011t0001g0086 a0005c0011t0002g0087 a0005c0011t0003g0064 a0010c0028t0003g0268 a0013c0044t0003g0070	19	403	0.0471	202	c.127 others(219): Show c.1270+202_1270+203insTTCTGTAAGAATCTTCCATCAACTTCTC TGTGGATCATGGAGGAATGGTTCTCCATAGGAAGCAGTTACACTAGTGTG AATGCTTGGACAGGTCTTTTCATCCCAGCAGCATATATATGTCATTTTGT TAGTGAATGCACCCCGACCTGTGGTCTCTGACCATGCCACTTCTGGCACA TGCTGTACCTCTCAGTCTCATCTC	UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding	9/14			chr21	TogoVar
UBASH3A_chr21_42398902_42452684	42432404	T T	TTTCTGTA others(195): Show TTTCTGTAAGAATCTTCCATCAACTTCTCTGTGGATCATGGAGGAATGGT TCTCCATAGGAAGCAGTTACACTAGTGTGAATGCTTGGACAGGTCTTTTC ATCCCAGCAGCATATATATGTCATTTTGTTAGTGAATGCACCCCGACTTG TGGTCTCTGACCATGCCACTTCTGGCACATGCTGTACCTCTCAGTCTCAT CTC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01257.hp2 HG01258.hp1 HG01884.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0048 a0002c0020t0002g0314 a0002c0020t0002g0048 a0002c0020t0002g0314	3	387	0.0078	202	c.127 others(219): Show c.1270+202_1270+203insTTCTGTAAGAATCTTCCATCAACTTCTC TGTGGATCATGGAGGAATGGTTCTCCATAGGAAGCAGTTACACTAGTGTG AATGCTTGGACAGGTCTTTTCATCCCAGCAGCATATATATGTCATTTTGT TAGTGAATGCACCCCGACTTGTGGTCTCTGACCATGCCACTTCTGGCACA TGCTGTACCTCTCAGTCTCATCTC	UBASH3A	ENSG00000160185.15	transcript	ENST00000319294.11	protein_coding	9/14			chr21	TogoVar
UCKL1_chr20_63934829_63961416	63948630	G G	GAGGGGTG others(195): Show GAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGT GTGAGAGGCAGGGGGCGTGTGTGTGAGGGGCGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGTGAG GGAGGGGCGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTG AGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	146	0.0068	202	c.114 others(219): Show c.114-1988_114-1987insTCTCACACACGCCCCCTCCCTCTCACAC ACGCCCCTCCCTCTCACGCCCCTCCCTCACACACACGCCCCTGCCTCTCA CACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCT CACACACACGCCCCCTGCCTCTCACACACGCCCCCTCCCTCTCACACACG CCCCTCCCTCTCACACACACCCCT	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATATAT others(195): Show ATATATATACGTATATATATACGTATATATATACGTATATATATACGTAT ATATATACGTATATATATATACGTATATATATACGTATATATATATACGT ATATATATACATATATATATATATACGTATATATATACGTATATATATAT ATATATACGTATATATATATATATATATATATATATATATTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0021 a0001c0003t0021	a0001c0003t0021g0155 a0001c0003t0021g0155	1	19	0.0526	202	c.298 others(223): Show c.2983+22239_2983+22240insATATATACGTATATATATACGTAT ATATATACGTATATATATACGTATATATATACGTATATATATATACGTAT ATATATACGTATATATATATACGTATATATATACATATATATATATATAC GTATATATATACGTATATATATATATATATACGTATATATATATATATAT ATATATATATATATTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATATATAT others(195): Show ATATATATACGTATATATATACGTATATATATACGTATATATATACGTAT ATATATACGTATATATATATATACGTATATATATACGTATATATATATAC GTATATATATACATATATATATATATACGTATATATATACATATATATAT ATATATATACGTATATATATATATATATATATATATATATTTTTTTTTTT TTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0088 a0001c0003t0002g0088	1	19	0.0526	202	c.298 others(223): Show c.2983+22239_2983+22240insATATATACGTATATATATACGTAT ATATATACGTATATATATACGTATATATATACGTATATATATATATACGT ATATATATACGTATATATATATACGTATATATATACATATATATATATAT ACGTATATATATACATATATATATATATATATACGTATATATATATATAT ATATATATATATATTTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176872414	C C	CCCACACC others(195): Show CCCACACCACAGCCTCACATCTGCCCACACTCGCCCCACACCACAGCTTC CCATCTGCCCACACTCGCCCCACACCACAGCTTCCCATCTGCCCACACTC ACCAACACCACAGCTTCACATCTGCCCACACCTGCCCCAACACCACAGCT TCCCATCTGCCCACACTCGCCCAACACCACAGCTTCACATCTGCCCACAC TCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02630.hp2 others(10): Show HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03471.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013	a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 others(10): Show a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0005g0249 a0001c0001t0006g0238 a0001c0001t0006g0243 a0001c0001t0013g0095	13	265	0.0491	202	c.887 others(219): Show c.887-1551_887-1550insCACCACAGCCTCACATCTGCCCACACTC GCCCCACACCACAGCTTCCCATCTGCCCACACTCGCCCCACACCACAGCT TCCCATCTGCCCACACTCACCAACACCACAGCTTCACATCTGCCCACACC TGCCCCAACACCACAGCTTCCCATCTGCCCACACTCGCCCAACACCACAG CTTCACATCTGCCCACACTCACCA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC80_chr2_209766832_210004296	209903525	T T	TATATATA others(195): Show TATATATAGTATATATGTAATATATATAATATATAGTATATATGTATTAT ATATATACTATATATAGTATATATGTAATACATATATACTATATATAGTA TATATGTAATACATATATACTATATATAGTATATATGTAATACATATATA CTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAA TAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0019 a0001c0015t0001g0019	1	185	0.0054	202	c.458 others(221): Show c.4582-1233_4582-1232insGTATATATGTAATATATATAATATAT AGTATATATGTATTATATATATACTATATATAGTATATATGTAATACATA TATACTATATATAGTATATATGTAATACATATATACTATATATAGTATAT ATGTAATACATATATACTATATATAGTATATATGTAATATATATACTATA TATAGTATATATGTAATACATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903525	T T	TATATATA others(195): Show TATATATAGTATATATGTAATATATATAATATATAGTATATATGTATTAT ATATATACTATATATAGTATATATGTATTATATATATACTATATATAGTA TATATGTAATACATATATACTATATATAGTATATATGTAATACATATATA CTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAA TAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0018 a0001c0015t0001g0018	1	185	0.0054	202	c.458 others(221): Show c.4582-1233_4582-1232insGTATATATGTAATATATATAATATAT AGTATATATGTATTATATATATACTATATATAGTATATATGTATTATATA TATACTATATATAGTATATATGTAATACATATATACTATATATAGTATAT ATGTAATACATATATACTATATATAGTATATATGTAATATATATACTATA TATAGTATATATGTAATACATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX2_chrX_8164944_8176267	8169405	C C	CCCTCCCT others(195): Show CCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCCACACACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	108	0.0093	202	c.62 others(211): Show c.626_*627insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		538		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533205	C C	CCACACAC others(195): Show CCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCACACACCACCTCT TCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	72	0.0139	202	c.53 others(211): Show c.539_*540insAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGG GAGGAAGAGGTGTGTG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		412		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467327	G G	GGTGTGTG others(195): Show GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAG GAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0006 a0005c0004t0006	a0005c0004t0006g0004 a0005c0004t0006g0004	1	226	0.0044	202	c.94 others(211): Show c.944_*945insGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG GGGAGGGAGGGAGGAA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		818		chrX	TogoVar
VCX_chrX_7838171_7849143	7844201	T T	TGGTGTGA others(195): Show TGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	293	0.0034	202	c.18 others(211): Show c.185_*186insGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		59		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159112639	C C	CGACGGGA others(195): Show CGACGGGACCCGGCCGAGAGCCCCGACTGTGAGGAGGCGGCTCACGGCGC CTACCTGGGACCGACCCTGACTGTGAGGAGGAGACTCACGGCGCCTGCCT GGGACGGGACCCGGCTGAGAGCCCCGACTGTGAGGAGGCGGCTCACGGCG CCTACCTGGGACCGACCCTGACTGTGAGGAGGAGGCTCACGGCGCCTGCC TGG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0002 a0004c0014t0002	a0004c0014t0002g0165 a0004c0014t0002g0165	1	275	0.0036	202	c.152 others(219): Show c.152-2721_152-2720insCCAGGCAGGCGCCGTGAGCCTCCTCCTC ACAGTCAGGGTCGGTCCCAGGTAGGCGCCGTGAGCCGCCTCCTCACAGTC GGGGCTCTCAGCCGGGTCCCGTCCCAGGCAGGCGCCGTGAGTCTCCTCCT CACAGTCAGGGTCGGTCCCAGGTAGGCGCCGTGAGCCGCCTCCTCACAGT CGGGGCTCTCGGCCGGGTCCCGTC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159112639	C C	CGACGGGA others(195): Show CGACGGGACCCGGCCGAGAGCCCCGACTGTGAGGAGGCGGCTCACGGCGC CTACCTGGGACCGACCCTGACTGTGAGGAGGAGGCTCACGGCGCCTGCCT GGGACGGGACCCGGCTGAGAGCCCCGACTGTGAGGAGGCGGCTCACGGCG CCTACCTGGGACCGACCCTGACTGTGAGGAGGAGGCTCACGGCGCCTGCC TGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG00733.hp1 others(53): Show HG00544.hp1 HG00673.hp1 HG00733.hp1 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp2 HG02602.hp1 HG02735.hp1 HG03491.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp2 NA18970.hp1 NA18984.hp1 NA18989.hp2 NA18995.hp2 NA19004.hp1 NA19010.hp2 NA19058.hp2 NA19066.hp2 NA19080.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0034 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0052 a0001c0002t0054 a0001c0002t0057	a0001c0001t0001g0227 a0001c0001t0001g0262 a0001c0001t0001g0301 others(51): Show a0001c0001t0001g0227 a0001c0001t0001g0262 a0001c0001t0001g0301 a0001c0001t0003g0284 a0001c0001t0009g0252 a0001c0001t0020g0253 a0001c0001t0034g0258 a0001c0002t0002g0011 a0001c0002t0002g0145 a0001c0002t0002g0160 a0001c0002t0002g0189 a0001c0002t0002g0206 a0001c0002t0002g0216 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0259 a0001c0002t0002g0269 a0001c0002t0002g0273 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0292 a0001c0002t0002g0302 a0001c0002t0005g0001 a0001c0002t0005g0030 a0001c0002t0005g0041 a0001c0002t0005g0093 a0001c0002t0005g0161 a0001c0002t0005g0203 a0001c0002t0005g0204 a0001c0002t0005g0228 a0001c0002t0005g0290 a0001c0002t0005g0291 a0001c0002t0009g0191 a0001c0002t0009g0231 a0001c0002t0009g0232 a0001c0002t0009g0236 a0001c0002t0009g0255 a0001c0002t0009g0261 a0001c0002t0052g0248 a0001c0002t0054g0279 a0001c0002t0057g0192	56	330	0.1697	202	c.152 others(219): Show c.152-2721_152-2720insCCAGGCAGGCGCCGTGAGCCTCCTCCTC ACAGTCAGGGTCGGTCCCAGGTAGGCGCCGTGAGCCGCCTCCTCACAGTC GGGGCTCTCAGCCGGGTCCCGTCCCAGGCAGGCGCCGTGAGCCTCCTCCT CACAGTCAGGGTCGGTCCCAGGTAGGCGCCGTGAGCCGCCTCCTCACAGT CGGGGCTCTCGGCCGGGTCCCGTC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159112639	C C	CGACGGGA others(195): Show CGACGGGACCCGGCCGAGAGCCCCGACTGTGAGGCGGCGGCTCACGGCGC CTACCTGGGACCGACCCTGACTGTGAGGAGGAGGCTCACGGCGCCTGCCT GGGACGGGACCCGGCTGAGAGCCCCGACTGTGAGGAGGCGGCTCACGGCG CCTACCTGGGACCGACCCTGACTGTGAGGAGGAGGCTCACGGCGCCTGCC TGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01106.hp1 HG00642.hp1 HG00741.hp1 HG01106.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0162 a0001c0002t0005g0234 a0001c0002t0005g0265 a0001c0002t0005g0162 a0001c0002t0005g0234 a0001c0002t0005g0265	3	277	0.0108	202	c.152 others(219): Show c.152-2721_152-2720insCCAGGCAGGCGCCGTGAGCCTCCTCCTC ACAGTCAGGGTCGGTCCCAGGTAGGCGCCGTGAGCCGCCTCCTCACAGTC GGGGCTCTCAGCCGGGTCCCGTCCCAGGCAGGCGCCGTGAGCCTCCTCCT CACAGTCAGGGTCGGTCCCAGGTAGGCGCCGTGAGCCGCCGCCTCACAGT CGGGGCTCTCGGCCGGGTCCCGTC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(195): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0060 a0004c0008t0003g0061 a0004c0008t0003g0060 a0004c0008t0003g0061	2	212	0.0094	202	c.200 others(219): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(195): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0064 a0003c0004t0001g0064	1	211	0.0047	202	c.200 others(219): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCC TCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(195): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCC TCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCT CCT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0002 a0003c0012t0001g0002	1	211	0.0047	202	c.200 others(219): Show c.2004+709_2004+710insTCCTCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCCCCCTCCTCCTCCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(195): Show CCCCCCCTCCTCCTCCCCCCCCCTCCTCCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA19074.hp1 NA18942.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0269 a0002c0002t0004g0211 a0002c0002t0001g0269 a0002c0002t0004g0211	2	209	0.0096	202	c.200 others(219): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(195): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	208	0.0048	202	c.200 others(219): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCCTCCTCCTCCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VPS8_chr3_184807166_185057604	184895629	C C	CCCCCCTC others(195): Show CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCT CCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18979.hp2 NA18994.hp2 others(2): Show HG02523.hp2 NA18979.hp2 NA18994.hp2 NA18999.hp2 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0174 a0002c0002t0001g0228 others(2): Show a0002c0002t0001g0084 a0002c0002t0001g0174 a0002c0002t0001g0228 a0002c0002t0001g0230 a0002c0002t0001g0271	5	160	0.0313	202	c.200 others(219): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCCTCCTCCTCCCCC	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(195): Show ATCATATATATATCATATATCATATATATCATATATGATACATATATATA TGATACATGTATCATATATGATACATGTATCATATATGATACATGTATCA TATATGATACATGTATCATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCTCATATATGATACATATAT ATC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	135	0.0074	202	c.856 others(219): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATG ATACATATATATATGATACATGTATCATATATGATACATGTATCATATAT GATACATGTATCATATATGATACATGTATCATATATGATACATATATATC ATATATATGATACATATATATCATATATATGATACATATATATCTCATAT ATGATACATATATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(195): Show ATCATATATGATACATATATATATCATATATGATACATATATCATATATA TCATATATGATACATATATCATATATATCATATATGATACATATATCATA TATATGATACATGTATCATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCTCATATATGATACATATAT ATC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	135	0.0074	202	c.856 others(219): Show c.856+2002_856+2003insATCATATATGATACATATATCATATATA TCATATATGATACATATATCATATATATCATATATGATACATATATCATA TATATGATACATGTATCATATATGATACATATATATCATATATATGATAC ATATATATCATATATATGATACATATATATCTCATATATGATACATATAT ATCTCATATATGATACATATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WASF3_chr13_26552683_26693948	26570465	T T	TTCTAGTT others(195): Show TTCTAGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0216 a0001c0002t0011g0216	1	292	0.0034	202	c.-10 others(223): Show c.-109+12659_-109+12660insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCTAGTTTCTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
XRCC2_chr7_152639776_152681141	152674703	A A	ATAATATA others(195): Show ATAATATATATTTAAAAATATATTTATATATAATATATTTTTATATATTT TATATATATTTTTAAATATATATTATATATAATATATTTTTAAATATATA TTATATATAATATATATTTTTAAATATATAAATATATTTTAAAATATGTA TTATATATATTTTTAAATATATATTATATATAAATATATTTTTAAATATA TAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0188 a0001c0001t0013g0188	1	386	0.0026	202	c.39+ others(217): Show c.39+1337_39+1338insATATATATTTAAAAATATATTTATATATAA TATATATTTAAAAATATATATAATACATATTTTAAAATATATTTATATAT TTAAAAATATATATTATATATAATATATATTTAAAAATATATTATATATA ATATATATTTAAAAATATATATAAAATATATAAAAATATATTATATATAA ATATATTTTTAAATATATATTA	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
ZAN_chr7_100728595_100802797	100742869	A A	AGGGAGAG others(195): Show AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0001 a0018c0019t0001	a0018c0019t0001g0064 a0018c0019t0001g0064	1	299	0.0033	202	c.767 others(219): Show c.767-3669_767-3668insGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGG	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	7/47			chr7	TogoVar
ZNF16_chr8_144925358_144955880	144946810	G G	GCTGTGTC others(195): Show GCTGTGTCCTGCTGTGGGGCTGTGTCCTGCTGTTGGGCTTGTGTCCTGCT GTGGGCCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTGGGGCTGTGTCC TGCTGTGGGGCTGTGTCCTGCTGTGGGCCTGTGTCCTGCTGTTGGGCTTG TGTCCTGCTGTTGGGCTTGTGTCCTGCTGTGGGGCCTGTGTCCTGCTGTG GGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp2 others(99): Show HG00099.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp2 HG03139.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0001c0008 a0001c0014 others(2): Show a0001c0002 a0001c0008 a0001c0014 a0002c0004 a0011c0015	a0001c0002t0001 a0001c0008t0001 a0001c0014t0001 others(2): Show a0001c0002t0001 a0001c0008t0001 a0001c0014t0001 a0002c0004t0001 a0011c0015t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 others(76): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0029 a0001c0002t0001g0032 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0001g0109 a0001c0002t0001g0111 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0176 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0264 a0001c0002t0001g0267 a0001c0002t0001g0269 a0001c0002t0001g0294 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0008t0001g0080 a0001c0014t0001g0299 a0002c0004t0001g0031 a0002c0004t0001g0062 a0002c0004t0001g0182 a0002c0004t0001g0184 a0002c0004t0001g0231 a0002c0004t0001g0270 a0002c0004t0001g0286 a0002c0004t0001g0287 a0002c0004t0001g0293 a0002c0004t0001g0312 a0011c0015t0001g0075	102	384	0.2656	202	c.-9- others(215): Show c.-9-596_-9-595insGCCCACAGCAGGACACAGGCCCCACAGCAGGA CACAAGCCCAACAGCAGGACACAAGCCCAACAGCAGGACACAGGCCCACA GCAGGACACAGCCCCACAGCAGGACACAGCCCCACAGCAGGACACAGGCC CACAGCAGGACACAGGCCCACAGCAGGACACAAGCCCAACAGCAGGACAC AGCCCCACAGCAGGACACAG	ZNF16	ENSG00000170631.15	transcript	ENST00000394909.7	protein_coding	1/2			chr8	TogoVar
ZNF469_chr16_88377959_88445753	88401518	G G	GATGGATG others(195): Show GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGAGTGGATGGATGGTGGATGGATGGGTGGATGGATGGATGGTGGATAGA TGGATACATGGGTGGATGAATAGGTAGATGGATGGATGGGCGAGTGGATG GATGGATGGATGGATGGATGGATGGATGCTGGGGTGGGTGGATGGGTGAG TGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0072 a0098 a0072 a0098	a0072c0116 a0098c0078 a0072c0116 a0098c0078	a0072c0116t0002 a0098c0078t0003 a0072c0116t0002 a0098c0078t0003	a0072c0116t0002g0177 a0098c0078t0003g0178 a0072c0116t0002g0177 a0098c0078t0003g0178	2	211	0.0095	202	c.-19 others(223): Show c.-192+18276_-192+18277insTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGAGTGGATGGATGGTGGATGGATGGGTGGATGGATG GATGGTGGATAGATGGATACATGGGTGGATGAATAGGTAGATGGATGGAT GGGCGAGTGGATGGATGGATGGATGGATGGATGGATGGATGCTGGGGTGG GTGGATGGGTGAGTGAATGGATGGATGG	ZNF469	ENSG00000225614.4	transcript	ENST00000565624.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(195): Show TCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	265	0.0038	202	c.-31 others(213): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761922	T T	TCCTTCCT others(195): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02257.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0012 a0001c0001t0001g0020	2	266	0.0075	202	c.-31 others(213): Show c.-3174_-3173insGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGG	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3032		chr19	TogoVar
ZNF888_chr19_52899415_52928428	52919960	C C	CGGCCAGC others(195): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCTG CCCGGCCAGCTGCCCAGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0142 a0001c0004t0037g0142	1	411	0.0024	202	c.-17 others(221): Show c.-177-1024_-177-1023insAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACTGGGCAGCTGGCCGGGCAGGGGGCTGACCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCC	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ZSCAN5A_chr19_56216303_56319839	56237966	G G	GACACACG others(195): Show GACACACGGACACACACACACGGACACATGGACACACACATGAACACATG GACACACACATAAACACATGGACACACACGAACACACACCTACACACACG TGGACACACACGGACACATGGACACACACGAACACATGGACACACACACG GGGACACACACGGACACATGGAAACACACGAACACACACCCACACCCACA CAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03098.hp1 HG03579.hp1 others(2): Show HG02965.hp1 HG03098.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0235 a0001c0001t0001g0255 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0235 a0001c0001t0001g0255 a0001c0001t0001g0342 a0001c0001t0001g0345	5	137	0.0365	202	c.-12 others(223): Show c.-127-12794_-127-12793insGTGTGTGGGTGTGGGTGTGTGTTC GTGTGTTTCCATGTGTCCGTGTGTGTCCCCGTGTGTGTGTCCATGTGTTC GTGTGTGTCCATGTGTCCGTGTGTGTCCACGTGTGTGTAGGTGTGTGTTC GTGTGTGTCCATGTGTTTATGTGTGTGTCCATGTGTTCATGTGTGTGTCC ATGTGTCCGTGTGTGTGTGTCCGTGTGT	ZSCAN5A	ENSG00000131848.10	transcript	ENST00000683990.1	protein_coding	2/5			chr19	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(196): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATATATAATTAATAT AATATATAATATAATATAATTATATATAATATATAATATATAATATATTA TATAAAATATATAATATATTATATAATTATATATTATATATATTATTTAT ATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0202 a0002c0006t0001g0202	1	135	0.0074	203	c.-35 others(214): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATATATTATATATTATATATTATATATA ATTATATTATATTATATATTATATTAATTATATATATATTATATATAATT ATATTATATATTATATATAATTATATTATATATTATATATAATTATATTA TATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABR_chr17_998519_1184981	1118656	C C	CCCCAGCG others(196): Show CCCCAGCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCC CTGAGCCTGAGTCCCTCCCAGCGTTATTGCCTGAGCCTGAGTCCCTCCCA GCGTTAACCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGT TCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18747.hp1 NA18952.hp2 others(1): Show HG02129.hp1 NA18747.hp1 NA18952.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0143 a0001c0001t0003g0142 a0001c0001t0004g0330 others(1): Show a0001c0001t0002g0143 a0001c0001t0003g0142 a0001c0001t0004g0330 a0001c0001t0006g0161	4	215	0.0186	203	c.246 others(220): Show c.246+6526_246+6527insAGGAACTCAGGCTCAGGGATAACGCTGG GAGGAACTCAGGCTCAGGGTTAACGCTGGGAGGGACTCAGGCTCAGGCAA TAACGCTGGGAGGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGC TCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGA ACTCAGGCTCAGGGTTAACGCTGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118735	T T	TGAGTCCT others(196): Show TGAGTCCTCCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTATC CCTGAACCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCA GCATTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGT TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGA GCCC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	307	0.0033	203	c.246 others(220): Show c.246+6447_246+6448insGGGCTCAGGGATAACGCTGGGAGGAACT CGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGG GAGGAACTCGGGCTCAGGGATAATGCTGGGAGGAACTCGGGCTCAGGGAT AACGCTGGGAGGAACTCGGGTTCAGGGATAATGCTGGGAGGAACTCGGGC TCAGGGATAACGCTGGGGAGGACTC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153679	T T	TCCAGGCA others(196): Show TCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGGGAGG GCTGGGGGTCCAGGCACACCTACGGGAGGGCTAGGGATCCAGGCACACCT GCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAG GCACACCTACGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0217 a0001c0001t0019g0217	1	325	0.0031	203	c.61+ others(220): Show c.61+25987_61+25988insGTCCCCAGCCCTCCCGTAGGTGTGCCTG GACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCCTAGCCCT CCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCC CTAGCCCTCCCGCAGGTGTGCCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289167	C C	CCGTGTCT others(196): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC CCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	272	0.0037	203	c.43 others(214): Show c.4396_*4397insACGGGGCAGAGACACGGGACGGAGCAGAGACACG GGGGACGGAGCAGAGACACGGGGACGGAGCAGAGACACGGGGGACGGAGC AGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACG GAGCAGAGACACGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACAC GGGACGGGGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3223		chr1	TogoVar
ACR_chr22_50733204_50750339	50748814	C C	CGAGGAGT others(196): Show CGAGGAGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGACAT CCGAGGAGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACAT CCGAGGAGTGTGCCCACCTAGACAATCTGAGGGGTGTGCCCACCTAGACA TCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACA ATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	386	0.0026	203	c.36 others(214): Show c.3607_*3608insGAGGAGTGTGCCCACCTAGACAATCTGAGGGGTG TGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACATCCGAGGAGTG TGCCCACCTAGACATCCGAGGAGTGTGCCCACCTAGACAATCTGAGGGGT GTGCCCACCTAGACATCCGAGGGGTGTGCCCACCTAGACATCCGAGGAGT GTGCCCACCTAGACAATCT	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3476		chr22	TogoVar
AK8_chr9_132720578_132883284	132812530	T T	TGCCCACT others(196): Show TGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTG AGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGGAT GACGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTGAGCCGCCGCGCCC ACTGGGATGACGGGTGAGCCGCCGCGCCCACTGGGATGACGGGTGAGCCG CCGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	7	0.1429	203	c.979 others(220): Show c.979+2107_979+2108insGCGGCGGCTCACCCGTCATCCCAGTGGG CGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCGGCTCACCCGTCATC CCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGGCGGCTCAC CCGTCATCCCAGTGGGCGCGGCGGCTCACCCGTCATCCCAGTGGGCGCGG CGGCTCACCCGTCATCCCAGTGGGC	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	10/12			chr9	TogoVar
AMFR_chr16_56356452_56430545	56406060	G G	GGGGGAGA others(196): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGAGAGGGGGGAGAGGGGGGAGA GGGGGAGAGGGGGGAGAGGGGGAAGGGGGAGGGGAGGGGGGGGGAGGGGG GAGAGGGGGAGGGGGAGGGGGGAGAGGGGGAGGGGAGGGGGAGAGGGGGG GAGGGGAGAGGGGAGAGAGAAGGGAGAGAGGGGGGAGGGGGGGGAGAGGG GAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	36	0.0278	203	c.667 others(218): Show c.667-817_667-816insTCTCCCCTCTCCCCCCCCTCCCCCCTCTCT CCCTTCTCTCTCCCCTCTCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCT CTCCCCCCTCCCCCTCCCCCTCTCCCCCCTCCCCCCCCCTCCCCTCCCCC TTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCT CTCCCCCCTCTCCCCCTCTCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANKRD62_chr18_12088843_12134764	12094523	C C	CTGTGGTG others(196): Show CTGTGGTGGGGGTAGAGTTGGGTGAGGGACTGTGGTGGGGAGTGGAGTGA GGGTGGGTTGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGGACT GTGGTGGGGGTAGAGTTGGGTGGGGGGACTGTATTAGGAGGTGGAGTTGG GTGGGGTTGGATGGGGTGGAGGACTGGTGGGGGGTGGGATGGGGTGGGGG ACTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	1	203	0.0049	203	c.218 others(218): Show c.218+290_218+291insTGGTGGGGGTAGAGTTGGGTGAGGGACTGT GGTGGGGAGTGGAGTGAGGGTGGGTTGGGGTGGAGGACTGGTGGGGGGTG GGATGGGGTGGGGGACTGTGGTGGGGGTAGAGTTGGGTGGGGGGACTGTA TTAGGAGGTGGAGTTGGGTGGGGTTGGATGGGGTGGAGGACTGGTGGGGG GTGGGATGGGGTGGGGGACTGTG	ANKRD62	ENSG00000181626.12	transcript	ENST00000587848.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr18	TogoVar
API5_chr11_43306996_43349529	43310873	A A	ATATATAA others(196): Show ATATATAATATATATTATATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATAATTGTATATATAATATATA TTATATATAATTGTATATATAATATATATTATATATATAATTGTATATAT AATATATATTATATATATAATTGTATATATAATATATATTATATATATAA TTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0225 a0001c0001t0007g0225	1	34	0.0294	203	c.-12 others(214): Show c.-1255_-1254insTATATAATATATATTATATATATAATTGTATATA TAATATATATTATATATAATTGTATATATAATATATATTATATATAATTG TATATATAATATATATTATATATAATTGTATATATAATATATATTATATA TATAATTGTATATATAATATATATTATATATATAATTGTATATATAATAT ATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARHGDIG_chr16_275591_288010	285909	C C	CCCAACCC others(196): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTC TCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA19009.hp1 NA18947.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0002 a0001c0001t0004g0006	2	421	0.0048	203	c.30 others(214): Show c.3095_*3096insCCAACCCCAACCCCAACCCCAACCCCAACCCCAA CCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGC GGTTCTCCCAACCCCAACA	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2900		chr16	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCCCCTCC others(196): Show CCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCCTCCCCCTCC CCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCC CCCT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	192	0.0052	203	c.102 others(220): Show c.1024+306_1024+307insCCCTCCCCCCTCCTCCCCCTTCCCCTCC CTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCC CTCCCTCCCCCTCCCCCTCCCCCTC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(196): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCC CCCT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	192	0.0052	203	c.102 others(220): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421151	A A	AGTTTATA others(196): Show AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATACTATATAT ATAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02738.hp2 HG03669.hp2 HG01099.hp2 HG02738.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0011 a0001c0001t0004 a0001c0001t0011	a0001c0001t0004g0007 a0001c0001t0011g0282 a0001c0001t0011g0283 a0001c0001t0004g0007 a0001c0001t0011g0282 a0001c0001t0011g0283	3	298	0.0101	203	c.331 others(222): Show c.3314-1185_3314-1184insCTATATATATAGTATATATATATAAA CTATATATATAGTATATATATATAAACTATATATATAGTATATATATAAA CTATATATATAGTATATATATATAAACTATATATATAGTATATATATAAA CTATATATATAGTATATATATATAAACTATATATATAGTATATATATAAA CTATATATATAGTATATATATATAAAC	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP8B4_chr15_49853238_50124233	50086259	A A	ATATGATA others(196): Show ATATGATATATATCATATATATTTATATATGATATATATCATATATATTT ATATATGATATATATCATATATATTTATATATGATATATATCATATATAT TTATATATGATATATATCATATATATTTATATATGATATATATCATATAT ATTTATATATGATATATATCATATATATTTATATATGATATATATCATAT ATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	224	0.0045	203	c.29- others(220): Show c.29-12075_29-12074insATATATATGATATATATCATATATAAAT ATATATGATATATATCATATATAAATATATATGATATATATCATATATAA ATATATATGATATATATCATATATAAATATATATGATATATATCATATAT AAATATATATGATATATATCATATATAAATATATATGATATATATCATAT ATAAATATATATGATATATATCATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
AXIN1_chr16_282440_357723	285909	C C	CCCAACCC others(196): Show CCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCC CAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTC TCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCC AACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA19009.hp1 NA18947.hp2 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0026 a0001c0003t0011 a0001c0003t0026	a0001c0003t0011g0065 a0001c0003t0026g0360 a0001c0003t0011g0065 a0001c0003t0026g0360	2	361	0.0055	203	c.22 others(214): Show c.2212_*2213insTGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGC GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGG TTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTGGGGTTG GGGTTGGGGTTGGGGTTGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1530		chr16	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(196): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0024 a0001c0003t0001g0024	1	223	0.0045	203	c.36 others(214): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar

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