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
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(433): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATATATGTCACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATATCATATATATCATATATATGATATATATCATAT ATATCATATATATGATATATATCATATATCATATATATGATATATATCAC ATATATATATCATATATATCACATATATATATCATATATATCATATATAT ATCATATATATGATATATATCATATATATATCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	350	0.0029	440	c.-34 others(451): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATATATGTCACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATATCATATATATCATATATA TGATATATATCATATATATCATATATATGATATATATCATATATCATATA TATGATATATATCACATATATATATCATATATATCACATATATATATCAT ATATATCATATATATATCATATATATGATATATATCATATATATATCATA TATATG	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133318112	A A	ACACACCC others(433): Show ACACACCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACAC AGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCA CACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCCCCA GACACAGAGATGGAAAGACCACACACCCCCAGACACAGAGATGGAAAGAC CACACCCCCCCCCCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCC CCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGA TGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACCCCC CCCCCAGACACAGAGATGGAAAGACCACACACCCCGCCCAGACACAGAGA TGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	440	c.52 others(451): Show c.5246_*5247insCACACCCCCCCCAGACACAGAGATGGAAAGACCA CACACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACA GAGATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCAC ACCCCCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCCCAGACA CAGAGATGGAAAGACCACACCCCCCCCCCCCCCCCCAGACACAGAGATGG AAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCC CCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGG AAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCACACACCCC GCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAGAGATGG AAAGAC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4952		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319209	T T	TATACATA others(433): Show TATACATACATATACATACATATACATACATATACATACATATACATACA TATACATACATATATACATATACATATATATACATATACATACATATACA TACATATATATACATATACATACATATACATACATATATACATATACATA CATATACATACATATATACATATACATACATATATATATACATATATATA CATATACATACATATATACATATATATACATATACATACATATATACATA TATATACATATATACATATACATACATATATATACATATACATACATATA TATACATATATATACATATACATACATATATATACATATATATACATATA CATACATATATATACATATATATACATATACATACATATATACATATATA TACATATACATACATATATACATATATATACATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03540.hp2 HG02280.hp1 HG03540.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0032 a0007c0007t0010 a0007c0007t0032	a0007c0007t0010g0016 a0007c0007t0032g0016 a0007c0007t0010g0016 a0007c0007t0032g0016	2	460	0.0044	440	c.-16 others(451): Show c.-1645_-1644insATACATACATATACATACATATACATACATATAC ATACATATACATACATATACATACATATATACATATACATATATATACAT ATACATACATATACATACATATATATACATATACATACATATACATACAT ATATACATATACATACATATACATACATATATACATATACATACATATAT ATATACATATATATACATATACATACATATATACATATATATACATATAC ATACATATATACATATATATACATATATACATATACATACATATATATAC ATATACATACATATATATACATATATATACATATACATACATATATATAC ATATATATACATATACATACATATATATACATATATATACATATACATAC ATATATACATATATATACATATACATACATATATACATATATATACATAT ACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1262		chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(433): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATAGAAATATATATAT TTATATATATATAAATATATATATTTATATATATATAAATATATATATAT TTCTATATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATATAAATATATATATAAATATATATTTATATATATATAAATATATAT ATATAAATATATATAAATATATATATATTTATATATATAAATAAATATAT ATTTATATATATAAATAAATATATATTTATATATATAAATAAATATATAT TTATATATATAAATATATATATTTTTATATATATAAATATATATATTTTT ATATATATAAATATATATATATTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp2 HG06807.hp1 NA18906.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0041 a0007c0007t0003g0041	2	400	0.0050	440	c.532 others(455): Show c.532+446_532+447insTATATATTTATATATATAAATATATATATA TTTATATATATAAAAATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATTTATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATATTTATATATATAGAAATATATATATATTTATA TATATATAGAAATATATATATATTTATATATATATAAATATATATATTTA TATATATATAAATATATATATTTCTATATATATAAATATATATATATTTC TATATATATAAATATATATATTTATATATATAGAAATATATATATATTTA TATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(434): Show GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	295	0.0034	441	c.37 others(452): Show c.3716_*3717insGCAGGGACACGGGACGGAGCAGGGACACGGGACG GAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACAC GGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAG AGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGG GCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGACAC GGGACGGGGCAGAGACACGGGACGGGGCAGAGACACGGGACGGGGCAGAG ACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACG GAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACAC GGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGA GCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756050	C C	CGTTAGAA others(434): Show CGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGT TAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTT AGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTGCCACTGTTA GAACCCTGGTAATAGAGTATATACTACAGAGTGCCCGCTGCCACTGTTAG AACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACTGTTAGA ACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTGCCACTGTTAGAA CCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19072.hp1 NA19068.hp1 NA19072.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0013 a0001c0009t0003g0038 a0001c0009t0003g0013 a0001c0009t0003g0038	2	344	0.0058	441	c.215 others(460): Show c.2154+1056_2154+1057insGCTGGTAATAGAGTATATACTGCAGA GGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTACAGAG TGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGT GCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTG CCTGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGC CCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCC CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCC GCTGCCACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCG CTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236756825	C C	CGCTGCCA others(434): Show CGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCC GCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCG CTGCCACTGTTAGAACCGTGGTTATAGAGTATATACTGCAGAGTGCCCGC TGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCT GCCACTGTTAGAACGCTGGTAATAGAGTATATACTGCAGAGGGCCCGCTG CCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCA CTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	344	0.0029	441	c.215 others(458): Show c.2155-653_2155-652insTGTTAGAACCCTGGTAATAGAGTATATA CTGCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATAC TGCAGAGTGCCCGCTGCCACTGTTAGAACCGTGGTTATAGAGTATATACT GCAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTG CAGAGTGCCCGCTGCCACTGTTAGAACGCTGGTAATAGAGTATATACTGC AGAGGGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCA GAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAG AGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGA GTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAG TGCCTGCTGCCAC	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236757011	A A	ACAGAGTG others(434): Show ACAGAGTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTG CAGAGTGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATATACTGC AGAGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCA GAGTGCCTGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAG AGTGCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGA GTGCCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAG TGCCCGCTGCCACCATTAGAACCCTGGTAATAGAGTATATACTGCAGAGT GCCCGCTGCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTG CCCGCTGCCACTGTTAGAACCCTGGTTATAGAGTATATACTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02886.hp1 others(2): Show HG02615.hp2 HG02647.hp2 HG02886.hp1 HG02897.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0011 a0001c0001 a0001c0007 a0001c0011	a0001c0001t0004 a0001c0007t0004 a0001c0011t0004 a0001c0001t0004 a0001c0007t0004 a0001c0011t0004	a0001c0001t0004g0037 a0001c0001t0004g0059 a0001c0001t0004g0117 others(2): Show a0001c0001t0004g0037 a0001c0001t0004g0059 a0001c0001t0004g0117 a0001c0007t0004g0070 a0001c0011t0004g0101	5	344	0.0145	441	c.215 others(458): Show c.2155-442_2155-441insTATAGAGTATATACTGCAGAGTGCCCGC TGCCACCATTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCT GCCACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCTGCTG CCACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGC CACTGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCC ACTGTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCA CCATTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCAC TGTTAGAACCCTGGTAATAGAGTATATACTGCAGAGTGCCCGCTGCCACT GTTAGAACCCTGGTTATAGAGTATATACTGCAGAGTGCCCGCTGCCACTG TTAGAACCCTGGT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1592324	G G	GCCCAAGC others(434): Show GCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCA CCCAGATTCACTCACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATG GTCCCCTCTGTCACCCAGCTCCCTTCGCCAAAGCCACCCTCCATAGGTCT CCTCTCTGGCATGGTCCCCTCTGTCAACCAGATTCACTCACCCAAGCTAC CCTCCATAGGTCTCTTCTCTGGCATGGTCCCCTCTGTCACCCAGCTCCCT TCACCCAAGCCACCCTCCATAGGTCTCTTCTCTGGCATGGTCCCCTCTGT CACCCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCA TGGTCCCCTCTGTCACCCAGATTCACTCACCCAAGCCACCCTCCATAGGT CTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGATTCACTCA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18945.hp2 NA18967.hp1 others(4): Show HG02083.hp1 NA18945.hp2 NA18967.hp1 NA18988.hp2 NA19011.hp2 NA19070.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0058 a0002c0002t0002 others(3): Show a0001c0001t0003 a0001c0001t0058 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008	a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0058g0099 others(4): Show a0001c0001t0003g0094 a0001c0001t0003g0102 a0001c0001t0058g0099 a0002c0002t0002g0050 a0002c0002t0004g0088 a0002c0002t0006g0019 a0002c0002t0008g0058	7	106	0.0660	441	c.100 others(462): Show c.100+144726_100+144727insTGAGTGAATCTGGGTGACAGAGGG GACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTGAGTGAATCT GGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTG GGTGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAAGAGACCTAT GGAGGGTGGCTTGGGTGAAGGGAGCTGGGTGACAGAGGGGACCATGCCAG AGAAGAGACCTATGGAGGGTAGCTTGGGTGAGTGAATCTGGTTGACAGAG GGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTTGGCGAAGGGAG CTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCT TGGGTGAGTGAATCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCT ATGGAGGGTGGCTTGGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1592913	C C	CTCCTCTC others(434): Show CTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTACCCTCGCCCAAGCC ACGCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTC CCTCACCCAAGCCACCCTCCATAGGTCTCCCCTCTGGCATGGTCCCCTCT GTCACCCAGCTTCCCTTGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGG CATGGTCCCCTCTGTCACCCAGCTTCCCTCACCCAAGCCACCCTCCATAG GTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAG CCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCT TCCCTTGCCCAAGCCACCCTCCATAGGTCTCTTCTCTGGCATGGTCCCCT CTGTCACCCAGCTTCCCTCACCCAAGCCACCCTCCATAGGTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG01884.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0078 a0001c0001t0012g0009 a0001c0001t0001g0078 a0001c0001t0012g0009	2	106	0.0189	441	c.100 others(462): Show c.100+144137_100+144138insAACCTATGGAGGGTGGCTTGGGTG AGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAAGAGACCTATGGAG GGTGGCTTGGGCAAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAG GAGACCTATGGAGGGTGGCTTGGGCGAGGGAAGCTGGGTGACAGAGGGGA CCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGG GTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGG CAAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGGGGAGACCTATGG AGGGTGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAG AGGAGACCTATGGAGCGTGGCTTGGGCGAGGGTAGCTGGGTGACAGAGGG GACCATGCCAGAGAGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1593092	C C	CTCCATAG others(434): Show CTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCT CACCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTC ACCCAGCTTCCCTCGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCAT GGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCCACCCTCCATAGGTC TCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCCA CCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCC CTCGCCCAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTG TCACCCAGCTTCCCTCACCCAAGCTACCCTCCATAGGTCTCCTCTCTGGC ATGGTCCCCTCTGTCACCCAGCTTCCCTCACCCAAGCCACCA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	106	0.0094	441	c.100 others(462): Show c.100+143958_100+143959insTGGTGGCTTGGGTGAGGGAAGCTG GGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTAGCTTGG GTGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATG GAGGGTGGCTTGGGCGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGA GAGGAGACCTATGGAGGGTGGCTTGGGCGAGGGAAGCTGGGTGACAGAGG GGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGCGAGGGAAGC TGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTGGCTT GGGCGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTA TGGAGGGTGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGACCATGCCA GAGAGGAGACCTATGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1593363	G G	GGCATGGT others(434): Show GGCATGGTCCCCTCTGTCACCCAGCTTCCCTCGCCCAAGCCACCCTCCAT AGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCACCCA AGCTACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAG CTTCCCTCACCCAAGCCACCATCCATAGGTCTCCTCTCTGGCATGGTCCC CTCTGTCACCCAGCTCCCTTTGCCCAAGCAACCCTCCATAGGTCTCCTCT CTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTTACCCAAGCCACCCTCC ATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCCAGCTTCCCTCACC CAAGCCACCCTCCATAGGTCTCCTCTCTGGCATGGTCCCCTCTGTCACCC AGCTCCCTTTGCCCTAGCCACGCCCCATAGGTCTCCTCTCTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01884.hp1 HG01934.hp2 others(5): Show HG00438.hp2 HG01884.hp1 HG01934.hp2 HG02027.hp2 HG02602.hp1 HG02886.hp1 NA20129.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(2): Show a0001c0001 a0001c0007 a0002c0002 a0002c0014 a0003c0006	a0001c0001t0010 a0001c0001t0055 a0001c0007t0066 others(5): Show a0001c0001t0010 a0001c0001t0055 a0001c0007t0066 a0002c0002t0038 a0002c0002t0043 a0002c0002t0063 a0002c0014t0008 a0003c0006t0067	a0001c0001t0010g0013 a0001c0001t0055g0089 a0001c0007t0066g0105 others(5): Show a0001c0001t0010g0013 a0001c0001t0055g0089 a0001c0007t0066g0105 a0002c0002t0038g0048 a0002c0002t0043g0053 a0002c0002t0063g0091 a0002c0014t0008g0060 a0003c0006t0067g0080	8	106	0.0755	441	c.100 others(462): Show c.100+143687_100+143688insTAGAGAGGAGACCTATGGGGCGTG GCTAGGGCAAAGGGAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGA CCTATGGAGGGTGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGACCAT GCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGTAAGGGAAGCTGGGTGA CAGAGGGGACCATGCCAGAGAGGAGACCTATGGAGGGTTGCTTGGGCAAA GGGAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGAGACCTATGGATGG TGGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGACCATGCCAGAGAGGA GACCTATGGAGGGTAGCTTGGGTGAGGGAAGCTGGGTGACAGAGGGGACC ATGCCAGAGAGGAGACCTATGGAGGGTGGCTTGGGCGAGGGAAGCTGGGT GACAGAGGGGACCATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(434): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCT TCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0023 a0001c0001t0012g0023	1	188	0.0053	441	c.-1- others(456): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAG AAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AHRR_chr5_316714_443285	376503	G G	GTGAGAAC others(434): Show GTGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA TGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAAT GAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATG AGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGA GAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAG AACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGA ACCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAA CCGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAATGAGAAC CGTGGGGTGAACGCGGGGAAACACAGGAAAGATGTGAATGAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 NA18998.hp2 HG03017.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0011 a0002c0002t0006 a0002c0002t0011	a0002c0002t0006g0144 a0002c0002t0011g0197 a0002c0002t0006g0144 a0002c0002t0011g0197	2	268	0.0075	441	c.245 others(454): Show c.245-58_245-57insTGAGAACCGTGGGGTGAACGCGGGGAAACACA GGAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAG GAAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGG AAAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGA AAGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAA AGATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAA GATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAG ATGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGA TGTGAATGAATGAGAACCGTGGGGTGAACGCGGGGAAACACAGGAAAGAT GTGAATGAA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391340	C C	CGGGCGCA others(434): Show CGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAG GGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCG CAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGC AGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCA GGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0036 a0001c0009t0036	a0001c0009t0036g0033 a0001c0009t0036g0033	1	268	0.0037	441	c.351 others(460): Show c.351+14656_351+14657insCGGGGGCAGGGCGAGGAGGGCGCAGG GCGAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGAGGAGGGCGCAGGG CGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGC GAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCA GGGCCAGAGCGTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	392045	T T	CGAGGCAG others(434): Show CGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGC GAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCA GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAG GGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0253 a0001c0001t0001g0263	2	268	0.0075	441	c.351 others(460): Show c.351+15328_351+15329insCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGAC ACAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCA GGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAG GGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGG GCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGG CGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGC GAGGAGGGCGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
AHRR_chr5_316714_443285	392045	T T	CGAGGCAG others(434): Show CGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGC GAGGCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCG AGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGA GGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGATGAGGGCGCAGGGCGAG GCAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGG CAGGGCCAGAGCGTGCACGGACGCAGGGCGATGAGGGCGCAGGGCGAGGC AGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCA GGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGTGAGGCAG GGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0038 a0005c0005t0038	a0005c0005t0038g0024 a0005c0005t0038g0024	1	268	0.0037	441	c.351 others(460): Show c.351+15328_351+15329insCGAGGCAGGGCCAGAGCGTGCACGGG CGCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGAC GCAGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCG CAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGC AGGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCA GGGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACGCAG GGCGATGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGG GCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGG CGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGC GAGGAGGGCGCAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10			chr5	TogoVar
ALK_chr2_29187774_29926586	29831105	G G	GAGCAGGA others(434): Show GAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGA GGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGC AGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAG GAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCA GGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGG AGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAG GAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GGAGGAGGAGGAGCAGGAGCAGGAGGAGGAGGAGGAGGAGGAGGAGCAGG AGCAGGAGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01433.hp1 HG02738.hp1 HG01106.hp2 HG01433.hp1 HG02738.hp1	a0002 a0003 a0002 a0003	a0002c0007 a0003c0003 a0003c0031 a0002c0007 a0003c0003 a0003c0031	a0002c0007t0001 a0003c0003t0002 a0003c0031t0002 a0002c0007t0001 a0003c0003t0002 a0003c0031t0002	a0002c0007t0001g0066 a0003c0003t0002g0065 a0003c0031t0002g0030 a0002c0007t0001g0066 a0003c0003t0002g0065 a0003c0031t0002g0030	3	80	0.0375	441	c.667 others(460): Show c.667+88887_667+88888insTCTGCTTCTGCTTCTGCTCCTGCTCC TGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTCCTCCTCCTCCTGCTC CTGCTCCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCT GCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCC TCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTC CTCCTGCTCCTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCT CCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGC TCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTC CTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGCT CCTCCTCCTCCTGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29831108	G G	GAGCAGGA others(434): Show GAGCAGGAGCAGGAGCAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGA GGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGCAGG AGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGGAGGAG GAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGCAGGA GCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAGGAGCAGGGGGAGGAGG AGCAGGAGGAGGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGGAGGAGGAG GAGCAGGAGGAGGAGGAGCAGGAGGAGGAGGAGGAGCAGGAGCAGGAGGA GGAGGAGCAGGAGCAGGAGCAGGAGCAGGAGCAGAAGCAGAAGCAGAAGC AGAAGCAGCAGAAGCAGCAGAAGCAGCAGAAGCAGAAGCAAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0010 a0003c0015t0002g0010	1	80	0.0125	441	c.667 others(460): Show c.667+88884_667+88885insGTTGCTTCTGCTTCTGCTGCTTCTGC TGCTTCTGCTGCTTCTGCTTCTGCTTCTGCTTCTGCTCCTGCTCCTGCTC CTGCTCCTGCTCCTCCTCCTCCTGCTCCTGCTCCTCCTCCTCCTCCTGCT CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTGC TCCTCCTCCTCCTGCTCCTCCTCCCCCTGCTCCTCCTCCTCCTCCTGCTC CTGCTCCTGCTCCTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCT GCTCCTCCTCCTCCTCCTCCTCCTCCTGCTCCTGCTCCTGCTCCTCCTCC TCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTGCTCCTGCTC CTGCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCTCCTGCTCCTCCTCCT GCTCCTGCTCCTGCT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ANO9_chr11_412938_447011	429129	T T	TGGGTGGA others(434): Show TGGGTGGACAGACACGGGACACTCACCCCACACGTGGGGAGACAGACACA GGGACACGCCTCACGGGTGGACAGACACGGGACACTCACCCCACACGTGG GGAGACAGACACAGGGACACGCCTCACGGGTGGACAGACACGGGACACTC ACACCACACGTGGGGAGACAGACACAGGGACATGCCTCATGGGTGGACAG ACACGGGACACTCACCCCACACGTGGGGAGACAGACACAGGGACACGCCT CACGGGTGGACAGACACGGGACACTCATCCCACACGTGGGGAGACAGACA CAGGGACATGCCTCATGGGTGGACAGACACGGGACACTCACCCCACACGT GGGGAGACAGACACAGGGACACGCCTCACGGGTGGACAGACACGGGACAC TCACCCCACACGTGGGGAGACAGACACAGGGACACACCTCAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	286	0.0035	441	c.916 others(456): Show c.916-304_916-303insGTGAGGTGTGTCCCTGTGTCTGTCTCCCCA CGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCGTGAGGCGTGTCCCTGT GTCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCATGA GGCATGTCCCTGTGTCTGTCTCCCCACGTGTGGGATGAGTGTCCCGTGTC TGTCCACCCGTGAGGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTG AGTGTCCCGTGTCTGTCCACCCATGAGGCATGTCCCTGTGTCTGTCTCCC CACGTGTGGTGTGAGTGTCCCGTGTCTGTCCACCCGTGAGGCGTGTCCCT GTGTCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTGTCTGTCCACCCGT GAGGCGTGTCCCTGTGTCTGTCTCCCCACGTGTGGGGTGAGTGTCCCGTG TCTGTCCACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	11/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(434): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGCTTCCGCAGGGGTGTGGG GGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGG GGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGG GGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCG GGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCG CGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	286	0.0035	441	c.539 others(456): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATA CCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCAGATACCCGCGGACGC CCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(434): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGCATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGC GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	286	0.0035	441	c.539 others(456): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATGCCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(434): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGAGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGC GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	286	0.0035	441	c.539 others(456): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CTCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(434): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGC GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp1 HG01884.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0216 a0001c0001t0001g0204 a0001c0001t0001g0216	2	286	0.0070	441	c.539 others(456): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCGGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(434): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGC GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(78): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG01167.hp1 HG01175.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18962.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19056.hp2 NA19079.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0008 a0013	a0001c0001 a0001c0006 a0001c0021 others(4): Show a0001c0001 a0001c0006 a0001c0021 a0006c0009 a0007c0015 a0008c0007 a0013c0018	a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0003 a0001c0006t0004 a0001c0006t0006 a0001c0021t0001 a0006c0009t0001 a0007c0015t0001 a0008c0007t0001 a0013c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0137 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0264 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0002g0007 a0001c0001t0002g0196 a0001c0001t0002g0222 a0001c0006t0003g0011 a0001c0006t0003g0013 a0001c0006t0004g0140 a0001c0006t0006g0012 a0001c0006t0006g0015 a0001c0021t0001g0258 a0006c0009t0001g0179 a0006c0009t0001g0180 a0006c0009t0001g0209 a0007c0015t0001g0260 a0007c0015t0001g0261 a0008c0007t0001g0198 a0008c0007t0001g0199 a0008c0007t0001g0201 a0008c0007t0001g0217 a0008c0007t0001g0242 a0013c0018t0001g0176	81	286	0.2832	441	c.539 others(456): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(434): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGTGTCTGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGC GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	286	0.0035	441	c.539 others(456): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACACCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431205	G G	GGTGTGGG others(434): Show GGTGTGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGC TCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAG GGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03579.hp2 HG03130.hp2 HG03579.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0191 a0007c0012t0001g0192 a0007c0012t0001g0191 a0007c0012t0001g0192	2	286	0.0070	441	c.539 others(456): Show c.539+488_539+489insTCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGAC GCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAG ATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGG ACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCAC ACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAG ATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGG GAGCCCCACAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	T T	TGTGTGTG others(434): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAG CGTGTGTGCCCGTGTCTGTTAAGCCTGTGTGTCCAAGGGAGCGTGTGTGC CCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGT TAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGT GTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGA GCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	246	0.0041	441	c.-81 others(460): Show c.-81-14532_-81-14531insGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCAC ACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCC TTGGACACACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACAC AGGCTAACAGACACGGGCACACACGCTCCCTTGGACACACAGGCTTAACA GACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCA CACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCC CTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACA CAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAACA GACACGGGCACACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(434): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC TGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0010 a0001c0045t0010	a0001c0045t0010g0187 a0001c0045t0010g0187	1	363	0.0028	441	c.-48 others(456): Show c.-48+940_-48+941insCGCACTCCACCTGTCCCCCCGCACTCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTG TCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTC CCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCA CCTGTTCACCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(434): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCC ACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC TGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0211	1	363	0.0028	441	c.-48 others(456): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTC ACCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTCCCCCCGCACCCC ACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACAC CCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTC ACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCA CCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ART1_chr11_3640128_3669416	3654051	G G	GTCCTCAC others(434): Show GTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGCCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCGCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTCTACTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTGTACTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCAACTCCTACCTCTGTCTCTCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	394	0.0025	441	c.-52 others(458): Show c.-52-5110_-52-5109insCCTCACTGCCATTCTCCCATCAGACATC AAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCT CCCATCAGACATCAAGCCTTGTAAATTCCACCTCCTACCTCTGTCTGTCC GCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTA CCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAA ATTCCACCTCCTACCTCTGTCTCTACTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTACTCACTGCCATT CTCCCATCAGACATCAAGTCTTGTAAATTCCAACTCCTACCTCTGTCTCT CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTAT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654107	T T	TCTGTCTG others(434): Show TCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAAT TCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATC AAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTTCT CCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCC TCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTA CCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAA ATTCCACCTCCTAACGCTGTCTGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCGTT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTAACG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0038 a0002c0007t0004g0038	1	394	0.0025	441	c.-52 others(458): Show c.-52-5049_-52-5048insGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGT CCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGA CATCAAGTCTTGTAAATTCCACCTCCTAACGCTGTCTGTCCTCACTGCCA TTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT ATCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTAACGCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654107	T T	TCTGTCTG others(434): Show TCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAAT TCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATC AAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTTCT CCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCC TCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTA CCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAA ATTCCACCTCCTAACGCTGTCTGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATCCTCACTGCCGTT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTAACG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02280.hp1 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0004 a0002c0007t0004	a0002c0007t0004g0039 a0002c0007t0004g0040 a0002c0007t0004g0039 a0002c0007t0004g0040	2	394	0.0051	441	c.-52 others(458): Show c.-52-5049_-52-5048insGTCCTCACTGCCGTTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGT CCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCGTTCTCCCATCAGA CATCAAGTCTTGTAAATTCCACCTCCTAACGCTGTCTGTCCTCACTGCCA TTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT ATCCTCACTGCCGTTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTAACGCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
ART1_chr11_3640128_3669416	3654177	A A	ATCCTCAC others(434): Show ATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTT GTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCA GACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGC CATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGT CTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCAC CTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTC TTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCAT CAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0060 a0003c0003t0002g0060	1	394	0.0025	441	c.-52 others(458): Show c.-52-4923_-52-4922insGTCCTCACTGCCATTCTCCCATCAGACA TCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATT CTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGT CCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCC TACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGT AAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCATTCTCCCATCAGA CATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCA TTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCT GTCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCT CCTACCTCTGTCT	ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(434): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0001 a0004c0013t0001	a0004c0013t0001g0018 a0004c0013t0001g0018	1	391	0.0026	441	c.36 others(452): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
AZU1_chr19_822837_837018	835488	A A	AGCCCCCA others(434): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	391	0.0026	441	c.36 others(452): Show c.3611_*3612insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3471		chr19	TogoVar
BMT2_chr7_112814147_112944875	112865769	A A	ATTTCATA others(434): Show ATTTCATATATACATATATTCATATATATATTTCATATATACATATATCA TATATATTTTTCATATATATACACATATATTCATATATACTCGTATATAT TTTCATATATACATATATTCATATATACTCGTATATATTTTCATATATAC ATATATTCATATATATATTTTCATATACATATATTCATATATATATTTTC ATATATACATATATGAAATTTTTCACATATACATATACATACATATATAT GTATATATGTACGTATATACATATGCATACATATATACGTATATATGTAT GTATATGCATACATATATACGTATATATGTATGTATATACATACATATAT TCATATATATTTTTTCATATATACATATATTCATATATATATTTTCATAT ATATATTCATATATATTTTCATATATATTCATTCATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20129.hp2 HG03139.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0065 a0001c0001t0002g0066	2	206	0.0097	441	c.473 others(460): Show c.473+29799_473+29800insATATATATGAATGAATATATATGAAA ATATATATGAATATATATATGAAAATATATATATGAATATATGTATATAT GAAAAAATATATATGAATATATGTATGTATATACATACATATATACGTAT ATATGTATGCATATACATACATATATACGTATATATGTATGCATATGTAT ATACGTACATATATACATATATATGTATGTATATGTATATGTGAAAAATT TCATATATGTATATATGAAAATATATATATGAATATATGTATATGAAAAT ATATATATGAATATATGTATATATGAAAATATATACGAGTATATATGAAT ATATGTATATATGAAAATATATACGAGTATATATGAATATATGTGTATAT ATATGAAAAATATATATGATATATGTATATATGAAATATATATATGAATA TATGTATATATGAAA	BMT2	ENSG00000164603.12	transcript	ENST00000297145.9	protein_coding	3/4			chr7	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(434): Show AGGGCGGGACGGAGGGACGGAGGGAGGGGAGGGCGGGACGGAGGGAGGGA GGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGA GGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGCGGGACGGAGGGGAGGGAGGGAGGGAGGGACGGAGGGACGG AGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCG GAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGA CGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGG CGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0180 a0002c0006t0001g0180	1	410	0.0024	441	c.465 others(456): Show c.465+102_465+103insGCCCCTCCCTCCGTCCCGCCCTCCCTCCCT CCATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCC TCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCT CCCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCCTCCGTC CCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCC TCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGC CCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCCTCCCTCCGTCCCT CCGTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404412	T T	TGGGGGGG others(434): Show TGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCTTGAGGGGTGTGGGGGG GAACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGGACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACA GGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTG TGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCT GCCTTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGG GGGGACGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGACGGGTCCTGCCCTGAGGGGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0026 a0001c0002t0019g0026	1	322	0.0031	441	c.26 others(452): Show c.2683_*2684insTCACACCCCTCAGGGCAGGACCCGTCCCCCCCAC ACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCCTCAGGGCAGGAC CCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCC CTCAAGGCAGGACCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCC CCCCCTCACACCCCTCAGGGCAGGACCCGTCCCCCCCACACCCCTCAGGG CAGGACCCTGTCCCCCCCTCACACCCCTCAGGGCAGGACCCGTCCCCCCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCCTCAGGGCAGGA CCCCGTTCCCCCCCACACCCCTCAAGGCAGGACCCCGTCCCCCCCACACC CCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGT CCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1032		chr19	TogoVar
CAMTA1_chr1_6780454_7774706	7114745	C C	CTGAGTCC others(434): Show CTGAGTCCGAAAACCTAAGAACCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGT GAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTG AGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGA GTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAG TCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGT CCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTC CGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTGTGAGTCC GAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02132.hp1 HG02523.hp2 others(1): Show HG01243.hp1 HG02132.hp1 HG02523.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0010t0004	a0001c0001t0001g0011 a0001c0001t0002g0002 a0001c0003t0001g0012 others(1): Show a0001c0001t0001g0011 a0001c0001t0002g0002 a0001c0003t0001g0012 a0001c0010t0004g0031	4	58	0.0690	441	c.302 others(460): Show c.302+23389_302+23390insAAGAACCAGGAGAGCTGATGGTGGTG TTCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGT TCCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTT CCAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTC CAGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCC AGTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCA GTGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAG TGTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGT GTGAGTCCGAAAACCTGAGACCCAGGAGAGCTGATGGTGGTGTTCCAGTG TGAGTCCGAAAACCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(434): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATAAAATATATATTATATTATATATAATATATATTATATAAAATATA TATTATATTATATATAATATATATTATATATAATATATATTATATTATAT AATATATATTATATAAAATATATATTATATTATATATAATATATATTTTA TAAAATATATATTATATTATATAATATATATTTTATAAAATATATATTAT ATTATATATAATATATATTATATAAAATATATATTATTATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	288	0.0035	441	c.154 others(460): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATAAAATATATATTATATTATATATAATATATATTATATAAAAT ATATATTATATTATATATAATATATATTATATATAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTATATATAATATATATT TTATAAAATATATATTATATTATATAATATATATTTTATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATTATATTATAT AATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC6_chr10_59783747_59911556	59882279	G G	GCCGGGGG others(434): Show GCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGC GGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGA AGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0272 a0001c0006t0002g0272	1	288	0.0035	441	c.303 others(460): Show c.303+23842_303+23843insTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCG CCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCGGCT TTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCCCGG	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	419684	T T	TACACATA others(434): Show TACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACA CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19240.hp1 HG02717.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0008 a0003c0003t0004 a0001c0001t0008 a0003c0003t0004	a0001c0001t0008g0170 a0003c0003t0004g0331 a0001c0001t0008g0170 a0003c0003t0004g0331	2	432	0.0046	441	c.413 others(458): Show c.413+1062_413+1063insCCTCCATGTTCCATTACAGTGCACTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTC CATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCAT GCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACA CACATAGCAGCAC	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	420276	C C	CACACATA others(434): Show CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGCGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACAT AGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0073 a0003c0003t0001g0073	1	432	0.0023	441	c.413 others(458): Show c.413+1662_413+1663insCTCCATTACAGTGCACTTCTGTGCGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGC AGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421230	A A	AAAACACA others(434): Show AAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0323 a0002c0002t0014g0323	1	432	0.0023	441	c.413 others(458): Show c.413+2596_413+2597insACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAG CAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421310	C C	CACATAGC others(434): Show CACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACAT AGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	432	0.0023	441	c.413 others(458): Show c.413+2677_413+2678insTAGCAGCACACTCCATGTTCCATTACAG TGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGC AGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTG CACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAG CACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCAC CCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAATACA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(434): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATAGTAGTATATATACTACTATATATAC TACTATATATAGTATATACTATATATACACTATATATACACTATATATAG CATATATACTATATATACACTATATATAGTAGTTATATATACTATATATA CACTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTAT ATATACTATATATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	396	0.0025	441	c.349 others(456): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTTTATATATACTATATATACACTATATATAGTAGT TATATATACTATATATACACTATATATAGTTTATATATACTATATATACA CTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTAT ATACTATATATACACTATATATAGTAGTATATATACTACTATATATACTA CTATATATAGTATATACTATATATACACTATATATACACTATATATAGCA TATATACTATATATACACTATATATAGTAGTTATATATACTATATATACA CTATACATACACTATATATAGTTTATATATACTATATATAGTAGTTATAT ATACTATATATACTATATATAGTTTATATATACTATATATACTATATATA GTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(434): Show ATGATGGTGATGATGATGATGGTGATGGTGATGATGATGGTGATAGTGAT GATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGA TGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAATGGTG ATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGAT GGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGG TGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTG ATGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGGTGAT GGTAATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTAATGG TGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18906.hp2 HG01106.hp1 NA18906.hp2	a0029 a0045 a0029 a0045	a0029c0158 a0045c0165 a0029c0158 a0045c0165	a0029c0158t0001 a0045c0165t0005 a0029c0158t0001 a0045c0165t0005	a0029c0158t0001g0171 a0045c0165t0005g0170 a0029c0158t0001g0171 a0045c0165t0005g0170	2	196	0.0102	441	c.-5- others(458): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGATGGTGATGGTAAT GGTGATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGG TGATGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATG ATGGTGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGAT GGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGATGATGG TGATGGTAATGGTGATGGTGATGATGATGGTGATGATGATGGTGATGGTA ATGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGAT GGTGATGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH23_chr10_71391920_71820947	71420464	A A	ATGATGGT others(434): Show ATGATGGTGATGATGATGATGGTGATGGTGATGATGATGGTGATAGTGAT GATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATGATGA TGGTGATGGTAATGGTGATGATGATGATGATGGTGATGGTAATGGTGATG GTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGATGGT GATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGA TGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGTGATG ATGATGATGGTGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGT GATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGGTAATGG TGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG03130.hp2 others(3): Show HG00639.hp1 HG02055.hp2 HG03130.hp2 HG03139.hp2 HG03516.hp2 HG03540.hp1	a0030 a0035 a0039 others(3): Show a0030 a0035 a0039 a0079 a0084 a0085	a0030c0135 a0035c0020 a0039c0154 others(3): Show a0030c0135 a0035c0020 a0039c0154 a0079c0141 a0084c0161 a0085c0098	a0030c0135t0018 a0035c0020t0028 a0039c0154t0008 others(3): Show a0030c0135t0018 a0035c0020t0028 a0039c0154t0008 a0079c0141t0008 a0084c0161t0008 a0085c0098t0003	a0030c0135t0018g0030 a0035c0020t0028g0184 a0039c0154t0008g0034 others(3): Show a0030c0135t0018g0030 a0035c0020t0028g0184 a0039c0154t0008g0034 a0079c0141t0008g0017 a0084c0161t0008g0018 a0085c0098t0003g0162	6	196	0.0306	441	c.-5- others(458): Show c.-5-19346_-5-19345insATGGTGATGGTGATGATGATGGTGATAG TGATGATGATGGTGATAGTGATGATGATGGTAATGGTGATGGTGATGATG ATGATGGTGATGGTAATGGTGATGATGATGATGATGGTGATGGTAATGGT GATGGTGATGATGATGATGATGGTGATGATGATGGTGATGATGATGGTGA TGGTGATGATGATGATGATGGTGATGGTAATGGTGATGATGATGATGATG GTGATGATGGTGATGGTGATGATGATGATGGTGATGGTAATGGTGATGGT GATGATGATGATGGTGATGGTGATGGTGATGATGATGATGGTGATGGTAA TGGTGATGGTGATGATGATGATGGTGATGATGATGGTGATGGTGATGGTA ATGGTGATGGTGATGATGATTGTGATGATGATGGTGATGGTGATGGTGAT GGTGATGATGATG	CDH23	ENSG00000107736.22	transcript	ENST00000224721.12	protein_coding	1/69		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNIH4_chr1_224351879_224384452	224378516	A A	ACTGAGGC others(434): Show ACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGC TGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTG AGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGA GGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAG GCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGG CCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGC CTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG02809.hp2 others(4): Show HG02055.hp1 HG02572.hp1 HG02809.hp2 HG03130.hp2 HG03453.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0043 a0001c0001t0010 a0001c0002t0043	a0001c0001t0010g0012 a0001c0001t0010g0045 a0001c0002t0043g0065 a0001c0001t0010g0012 a0001c0001t0010g0045 a0001c0002t0043g0065	7	324	0.0216	441	c.30 others(452): Show c.3093_*3094insCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACA TCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACAT CTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCT GAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTG AATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGA ATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAA TGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAAT GCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATG CTGAGGC	CNIH4	ENSG00000143771.12	transcript	ENST00000465271.6	protein_coding	5/5	3094	INFO_REALIGN_3_PRIME	chr1	TogoVar

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