Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
GALNT9_chr12_132191372_132334589	132233118	TCCCCTAC others(424): Show TCCCCTACTGCCACACACTCCATGGGGCGACAGGAGACAGCGTGGAGCCC CTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCT AGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAG TGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTACTG CCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCC ACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCAC ACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACAC ACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACAC TCGATGGGGTGACAGAGGAGACAGTGTGGAGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0003 a0001c0029t0003	a0001c0029t0003g0107 a0001c0029t0003g0107	1	147	0.0068	-431	c.107 others(21): Show c.1077+14361_1077+14791del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
PKP3_chr11_389209_409908	401166	GGCCCCGC others(424): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	213	0.0047	-431	c.173 others(17): Show c.1737+498_1737+928del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPP1R12C_chr19_55085918_55122637	55093540	TCCTCCCT others(424): Show TCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCCTCAGACC CAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGAC CCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTC CCTCAGACCCAGGAGCCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGA GCCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCAGACCCCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAG ACCCAGGAGTCCAGACCTCCAGCCCCTCCTCCCTCAGACCCAGGAGCCCA GACCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02615.hp1 others(10): Show HG02109.hp2 HG02145.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03225.hp2 HG03453.hp2 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0023t0001 a0001c0001t0001 a0001c0002t0001 a0001c0023t0001	a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0135 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0135 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0002t0001g0167 a0001c0023t0001g0210	13	388	0.0335	-431	c.168 others(17): Show c.1683+374_1684-308del	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	13/21			chr19	TogoVar
RFX7_chr15_56082280_56248879	56110542	GGGGGGGG others(424): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGG CCAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGT GAGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01243.hp2 HG01257.hp2 others(7): Show HG00673.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG02572.hp2 HG04115.hp1 NA18944.hp2 NA19012.hp1 NA19068.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0015 a0001c0001 a0001c0004 a0001c0015	a0001c0001t0001 a0001c0001t0010 a0001c0004t0008 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0004t0008 a0001c0015t0043	a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0186 others(7): Show a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0010g0135 a0001c0004t0008g0217 a0001c0015t0043g0349	10	357	0.0280	-431	c.402 others(17): Show c.402-7303_402-6873del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
SIGIRR_chr11_400716_419999	401166	GGCCCCGC others(424): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGTTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGTTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	236	0.0042	-431	c.42 others(11): Show c.4299_*4729del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4549		chr11	TogoVar
ZNF516_chr18_76352682_76500242	76393471	AGGGCGGG others(424): Show AGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGG CAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGG GGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGA AGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGT AGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTC	A A	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19065.hp1 NA19009.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0327 a0001c0001t0003g0251 a0001c0001t0001g0327 a0001c0001t0003g0251	2	344	0.0058	-431	c.181 others(21): Show c.1811-13599_1811-13169del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACAP3_chr1_1287391_1312930	1288392	CCTGCTCC others(423): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	134	0.0075	-430	c.47 others(11): Show c.4742_*5171del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3998		chr1	TogoVar
AP1G1_chr16_71724000_71813834	71800243	CGCCTGTA others(423): Show CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAG CCTGGGTGATAGAGCAAGACTCCCCATCTCAAAAAAAAAAAAAAAAAGAA TTATATTGGCCAGGCACGGTGGCTCACACCTGTAATCCTAGCACTTTGGG AGGCCAAGGTGGGAGGATCATGTGAGGTCGGGAGTTCAAAACCAGCCTGA CCAACATGGAGAAACCCCCCCGTCTCGGGTCGGGTGCGGGGGCTCACGCC TTTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCAGATCACGAGGTCAGG AGATGGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAA TACAGAACATTAGCCAGGCGTGGTGGTGGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp1 HG03098.hp1 others(3): Show HG01884.hp1 HG02965.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 others(3): Show a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060	6	318	0.0189	-430	c.-4+ others(15): Show c.-4+8090_-4+8519del	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	83055177	GGAGACAG others(423): Show GGAGACAGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAGACTCGGTGC TGGGTGGGGAGACAGAGGTTCCCTGCAGGTCCCCACGGACAGTGTTAGAC TCGGTGCTGGGTGGGGAGGTTCCCAGCAGGTCCGCACGGACGGTGTTAGA CTCGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGACGGTGTTAG ACTCGGTGCTGGGTGGGTTGACAGAGGTTCCCTGCAGGTCCGCACGGACG GTGTTAGACTGGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGAC GGTGTTAAACTCGGTGCTGGGTGGGGAGGTTCCCTGCAGGTCCGCACGGA CGGTGTTAGACTCGGTGCTGGGTGGGGAGACAGGTTCCCTGCAGGTCCCC ACAGACAGTGTTAGACTCGGTGCTGGGTGGG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0197 a0001c0003t0004g0197	1	221	0.0045	-430	c.-38 others(11): Show c.-3856_-3427del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding		3408		chr17	TogoVar
CACNB4_chr2_151827771_152104044	152016995	CAAGTTTA others(423): Show CAAGTTTAACCCAGGTGTTGCTCTTTAGAGTTTGCACTTTTAACCACTAG GCTTCCTTCTCCAGGCATTTCATCTTAATTTACAACTACAAACATGAGAC AAGCTTAGCCCAGATTAAGAACACAGGCACAGCACCCACTCCAATAGTTA TCAAGCTCTAGGGCATACATATAACTAAGGCTGTTTAATGAAAATGTATA TTCCTGGGTCTTCCATCCAGATATTCTGATTCAACGTATCTGAGAAGGGA CCTGTGCACCTGCATTTTAACAGCACCCCTAGTGGTTCTGACACAAGTAG TTCTGCAGACCACATTTGAAAAATAACAATTTATTCAAACTCAGCTAATG AGTCATTGCAGATAGATAAATCAACTTCACTGATCCAGAGAAAACCTGAG AAACAGAAGGAAGCCTTAAAAAAATGAGATG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02145.hp1 others(19): Show HG01884.hp1 HG02055.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp1 HG03579.hp2 NA18906.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019 a0001c0002t0002 a0001c0005t0015	a0001c0001t0001g0214 a0001c0001t0002g0145 a0001c0001t0005g0092 others(19): Show a0001c0001t0001g0214 a0001c0001t0002g0145 a0001c0001t0005g0092 a0001c0001t0005g0198 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0229 a0001c0001t0011g0030 a0001c0001t0011g0143 a0001c0001t0011g0144 a0001c0001t0019g0220 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0146 a0001c0002t0002g0200 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0005t0015g0199	22	230	0.0957	-430	c.147 others(19): Show c.147+80905_147+81334del	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	2/13			chr2	TogoVar
DCC_chr18_52335197_53540899	53086155	TCCTCTTC others(423): Show TCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCTTCTTCTTTTCT TCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCTTCTTCCTTTCT TCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTT CTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCTTCCT TTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTT TCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTT CTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTTCTTCTTCCTTT CTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTCTTTCTTCTTCT TCCTTCTTCTTCTTCTTCTTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 HG01261.hp2 HG01346.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0023 a0001c0008t0025 a0001c0008t0023 a0001c0008t0025	a0001c0008t0023g0098 a0001c0008t0025g0086 a0001c0008t0023g0098 a0001c0008t0025g0086	2	108	0.0185	-430	c.126 others(21): Show c.1261+19991_1261+20420del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
ERC1_chr12_986223_1500931	1121699	ATCTCTAT others(423): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTATCT CTATCTCTATCTCTATCTATCTCTATCTCTATCTATCTCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTATCTCTAT CTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTATCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCT CTATCTCTATCTATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCT ATCTATCTCTATCTCTATCTCTATATCTCTATCTCTATCTGTGTCTCTAT CTCTATCTCTATCTCTATCTCTATCTGTGTC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0146 a0002c0002t0055g0146	1	160	0.0063	-430	c.156 others(19): Show c.1569+5670_1569+6099del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	714139	CGCATCTC others(423): Show CGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCT CTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTG GGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTG CTGCACCCAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACC CAGGCGGCCTCTTCCGGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGG CCTCTTCCCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTC CCGCATCTCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCGGCATC TCTCGGTGGGATGTGCTGCACCCAGGCGGCCTCTTCCCGCATCTCTCGGT GGGATGTGCTGCACCCAGGCGGCCTCTTCCG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0333 a0001c0002t0002g0333	1	356	0.0028	-430	c.169 others(17): Show c.169+1292_169+1721del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
MGRN1_chr16_4619826_4695972	4648304	CGCGGGCT others(423): Show CGCGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGACTCTTCCC GTGGTCACCCGGCTCCTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGT CCTCCTCCCGGGGGCTCTTCCCGTGGTCACCCGGCTCCTCCTCTCGGGGA CTCTTCCCGTGGTCACCTGGCTCCTCCTCCCGGGGGCTCTTCCCGTGGTC ACCCGGGGGCTCCTCCCGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTC CCGGGGGCTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGCTCTTCCC GTGGTCACCCGGGTCCTCCTCCCGGGACTCTTCCCGTGGTCACCCGGCTC CTCCTCCCGGGGACTCTTCCCGTGGTCACCCGGGTCCTCCTCCCGGGGGC TCTTCCCGTGGTCACCCGGCTCCTCCTCTCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02451.hp2 others(12): Show HG01891.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020	a0001c0001t0003g0013 a0001c0001t0005g0036 a0001c0001t0005g0037 others(12): Show a0001c0001t0003g0013 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0044 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0087 a0001c0001t0016g0012 a0001c0001t0017g0042 a0001c0001t0018g0014 a0001c0001t0020g0086	15	332	0.0452	-430	c.89- others(15): Show c.89-2059_89-1630del	MGRN1	ENSG00000102858.13	transcript	ENST00000262370.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
MLPH_chr2_237482251_237560322	237543495	CGACAGTG others(423): Show CGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGT GGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGA GTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGT GAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAG TGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGG TAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGAC AGTGGTGAGTGGGAGGACAGTGGTGAGTGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(58): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01169.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp2 HG02735.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp2 HG03704.hp2 HG03710.hp1 HG04115.hp2 NA18747.hp1 NA18941.hp2 NA18944.hp2 NA18945.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp2 NA18967.hp2 NA18971.hp2 NA18978.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18998.hp1 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19068.hp1 NA19082.hp2 NA19085.hp2 NA19090.hp1 NA20752.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0011 a0012 a0021	a0001c0001 a0001c0010 a0001c0035 others(7): Show a0001c0001 a0001c0010 a0001c0035 a0001c0048 a0002c0002 a0004c0005 a0004c0033 a0011c0016 a0012c0013 a0021c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0010t0001 a0001c0035t0001 a0001c0048t0001 a0002c0002t0001 a0004c0005t0001 a0004c0033t0004 a0011c0016t0001 a0011c0016t0002 a0012c0013t0013 a0021c0019t0001 a0021c0019t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0248 a0001c0001t0001g0277 a0001c0001t0002g0136 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0181 a0001c0001t0002g0274 a0001c0001t0003g0134 a0001c0001t0003g0198 a0001c0001t0003g0209 a0001c0001t0004g0174 a0001c0001t0004g0218 a0001c0001t0014g0154 a0001c0010t0001g0005 a0001c0010t0001g0245 a0001c0010t0001g0246 a0001c0035t0001g0112 a0001c0048t0001g0028 a0002c0002t0001g0244 a0004c0005t0001g0191 a0004c0033t0004g0180 a0011c0016t0001g0082 a0011c0016t0002g0078 a0012c0013t0013g0103 a0021c0019t0001g0179 a0021c0019t0002g0210	61	209	0.2919	-430	c.153 others(18): Show c.1539+958_1539+1387del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
OTUD7A_chr15_31470398_31875673	31511020	TGTATATC others(423): Show TGTATATCTATATGTAACATACATGTATATCTATATGTAACATACATATA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACATACATATGTATATCTATATGTAACATACA TATGTATATCTATATGTAACACACATATGTATATCTATATGTAACACACA TACATATGTATATCTATATGTAACACACATACATATGTATATCTATATGT AACACACATACATATGTATATCTATATGTAACACACATATATATGTATAT CTATATGTAACACACATATATATGTATATCTATATGTAACACACATATAT ATGTATATCTATATGTAACACATATATATGTATATCTATATGTAACACAC ACATATATGTATATCTATATGTAACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG03225.hp2 HG02647.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0030 a0001c0002t0031 a0001c0018t0089 a0001c0002t0030 a0001c0002t0031 a0001c0018t0089	a0001c0002t0030g0009 a0001c0002t0031g0228 a0001c0018t0089g0205 a0001c0002t0030g0009 a0001c0002t0031g0228 a0001c0018t0089g0205	3	238	0.0126	-430	c.894 others(17): Show c.894-7632_894-7203del	OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12			chr15	TogoVar
PCBP3_chr21_45638725_45947450	45815226	ATGAGTGG others(423): Show ATGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGAGTGGTG AGTAGTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTG AGTGATGAGTGAGTGGTGAGTGATGAGTGGTGAGTGGTGAGTGATGAGTG AGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGT GGTGAGTGGTGAGTCAGTGGTGAGTGGTGAGTGGTGAGTGAGTGATGAGT GATGGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGAT GAGTGAGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGT GAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGAT GAGTGGTGAGTGGTGAGTGAGTGGTGAGTGG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp1 HG02896.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0013 a0001c0001t0003g0014	2	82	0.0244	-430	c.-12 others(21): Show c.-125-34502_-125-34073del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2121908	AGGGTCAC others(423): Show AGGGTCACGGCTGTAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCGGT GGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGG TGGTGGTTAGGGTCGTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTG GTGGTTAGGGTCACGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGT GGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGG TGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTGGTTAGGGTGGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGT TAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGG TAGGGTCGTGGTGGTTAGGGTCGTGGCGGTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	266	0.0038	-430	c.335 others(19): Show c.335-13352_335-12923del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFX7_chr15_56082280_56248879	56110543	GGGGGGGT others(423): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCCGGCCAGCCACCCTGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGG CCAGCCACCCCGTCTGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCACCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCTGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAGGTG AGGGGAGCCTCTGCCCTGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCTGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	357	0.0028	-430	c.402 others(17): Show c.402-7303_402-6874del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1288392	CCTGCTCC others(423): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGTTCCGTCCCCCGAGTCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0125 a0004c0005t0006g0125	1	133	0.0075	-430	c.166 others(17): Show c.1662+373_1662+802del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSNARE1_chr8_142207080_142408182	142390988	GCAGACGC others(423): Show GCAGACGCTGTACACTGCGGGGGACTCTGTAACAGACGCTGTACACTGCG GGGGACTCTGTAACAGACGCTGTACACTGCGGGGGACTCTAACAGACGCT GTACACTGCTGGGGACTCTAACAGACGCTGTACACTGCTGGGGACTCTGT AACAGACGCTGTACACTGCTGGGGACTCTGTAACAGACGCTGTACACTGC TGGGGACTCTGTAACAGACGCTGTACACTGCAGGGGACTCTATAGCAGAC GCTGTACACTGCTGGGGACTCTATAACAGACGCTGTACACTGCTGGGGAC TCTGTAACAGACGCTGTACACTGCTGGAGACTCTGTAACAGACGCTGTAC ACTGCTGGGGACTCTGTAACAGACGCTGTACACTGCGGGAGACTCTGTAA CAGATGCTGTACACTGCTGGGGACTCTGTAA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0184 a0002c0002t0001g0184	1	232	0.0043	-430	c.-40 others(19): Show c.-40+11686_-40+12115del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
ZFAND6_chr15_80054676_80143393	80079346	AAGTAGCT others(423): Show AAGTAGCTGGGACCACAGGCACCCGCCACCACGCTTGGCTAATTTTTTGG ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCACCCGGCCTACTCTGTTCTTTCTTTTGCTGTTCT TTTGGTATACATTAAATAATAAAAATGTAAAATAATGACAATAGATTTTG AATGTTATAATAGATTTATGTGATATATAATTTGAAAAGAATGTTTTCCT TAGCTTTTTTTTTTTTTTTTTTGAAATGGAGTCTCGCTGTGTCGCCCAGG CTGGAGTGCAGTGGCGCAAACTTGGCTCACTGCAAGCTCTGCCTCCCAGG TTCATGCCATCCTCCTGCCTTAGCCTCCCCG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	372	0.0027	-430	c.-18 others(21): Show c.-180-19057_-180-18628del	ZFAND6	ENSG00000086666.19	transcript	ENST00000261749.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANK2_chr4_113044653_113388736	113064718	TTGTTAGA others(422): Show TTGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGT AGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAA TGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTA GAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAAT GTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAG AACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATG TTAGAAAGTTCTGTAGAACTTCTAACAAAAATGTTAGAAAGTTCTGTAGA ACTTCTAACAAAAATGTTAGAAAGTTCTGTAGAACTTCTAACAAAAATGT TAGAAAGTTCTGTAGAACTTCTAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19086.hp1 NA20300.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0013 a0016 a0017 a0018 a0019 a0020	a0001c0001 a0001c0004 a0002c0002 others(15): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0032 a0003c0006 a0003c0020 a0004c0005 a0005c0009 a0007c0012 a0008c0014 a0009c0011 a0013c0015 a0016c0036 a0017c0028 a0018c0029 a0019c0017 a0020c0016	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 a0002c0003t0007 a0002c0032t0001 a0003c0006t0002 a0003c0020t0002 a0004c0005t0001 a0005c0009t0001 a0007c0012t0001 a0008c0014t0001 a0009c0011t0001 a0013c0015t0001 a0016c0036t0009 a0017c0028t0001 a0018c0029t0001 a0019c0017t0001 a0020c0016t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0085 others(76): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0003g0124 a0001c0004t0001g0122 a0001c0004t0001g0147 a0002c0002t0001g0007 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0112 a0002c0002t0001g0119 a0002c0002t0001g0125 a0002c0002t0001g0133 a0002c0002t0001g0161 a0002c0002t0004g0156 a0002c0003t0001g0048 a0002c0003t0001g0050 a0002c0003t0001g0115 a0002c0003t0001g0138 a0002c0003t0001g0145 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0162 a0002c0003t0001g0165 a0002c0003t0001g0172 a0002c0003t0007g0137 a0002c0032t0001g0135 a0003c0006t0002g0154 a0003c0020t0002g0113 a0004c0005t0001g0123 a0004c0005t0001g0164 a0005c0009t0001g0128 a0007c0012t0001g0148 a0008c0014t0001g0157 a0009c0011t0001g0105 a0013c0015t0001g0118 a0016c0036t0009g0146 a0017c0028t0001g0084 a0018c0029t0001g0140 a0019c0017t0001g0170 a0020c0016t0001g0132	79	87	0.9080	-429	c.84+ others(17): Show c.84+15013_84+15441del	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
AP2A2_chr11_920870_1017240	980067	CTGCCCGG others(422): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02083.hp1 HG02129.hp2 others(7): Show HG01109.hp1 HG02083.hp1 HG02129.hp2 HG02523.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA19088.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0002t0003 a0001c0006t0001 a0001c0013t0001	a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(7): Show a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0003g0130 a0001c0001t0014g0126 a0001c0002t0003g0188 a0001c0006t0001g0127 a0001c0013t0001g0128	10	266	0.0376	-429	c.604 others(16): Show c.604-1054_604-626del	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82976331	GAGGGCCC others(422): Show GAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCA CTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGG ACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCA TCCTCCCAGGGGCCAGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAG AGCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACAAGG GCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTAT GGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCA GAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCT CCCAGGGACCAGAGGCCACTATGGAGAGTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01257.hp2 others(10): Show HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG02559.hp1 HG02886.hp1 HG03225.hp2 HG03579.hp2 HG06807.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0010	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0002t0001 a0001c0003t0015 a0001c0011t0001 a0001c0011t0010 a0001c0011t0017 a0002c0010t0007	a0001c0001t0002g0177 a0001c0001t0005g0255 a0001c0001t0017g0176 others(9): Show a0001c0001t0002g0177 a0001c0001t0005g0255 a0001c0001t0017g0176 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0003t0015g0194 a0001c0011t0001g0145 a0001c0011t0010g0147 a0001c0011t0010g0148 a0001c0011t0017g0146 a0002c0010t0007g0005 a0002c0010t0007g0218	13	254	0.0512	-429	c.460 others(19): Show c.460-11014_460-10586del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82976495	AGAGGCCA others(422): Show AGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGAGCCCGACTCCATC CTCCCAGGGGCCGGAGGCCACTTATGGGGAACAAGGGCCCCGGGACAGAG CCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCC CCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATGGA GAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAG GCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCC AGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGAAC TCCATCCTCCCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGA CAGAGCCGGATTCCATCCTCCCAGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01261.hp1 others(2): Show HG01167.hp2 HG01169.hp1 HG01261.hp1 HG03130.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0013 a0003c0024 a0001c0013 a0003c0024	a0001c0013t0012 a0003c0024t0010 a0001c0013t0012 a0003c0024t0010	a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 others(1): Show a0001c0013t0012g0001 a0001c0013t0012g0014 a0001c0013t0012g0015 a0003c0024t0010g0152	5	196	0.0255	-429	c.460 others(19): Show c.460-11178_460-10750del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNG7_chr19_53904278_53948950	53922481	TCTGGTCA others(422): Show TCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCC CAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTG TCCCAGGACTGGTCATTGGTGCAGTTGTCCCAGGCCTGGTCATTGGTGCA GTTGTCCCCAGGCCTGGTCATTGGTGCAGTTGTCCCAGGCTGGTCATTGG TGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCA TTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGGGTTGTCCCAGGCTCG TCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGT CTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGACTC AGGCTGGTCATTGGTGGAGTTGCCCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02135.hp1 HG02083.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0196 a0001c0001t0001g0199	2	363	0.0055	-429	c.424 others(17): Show c.424+7023_424+7451del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDH4_chr20_61247261_61945617	61945188	GCTGTCTG others(422): Show GCTGTCTGCACCATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTCAG AGTGTCTACACCGTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAG ACTGTCTGCACTGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCG ACCATCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCG ACTGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCACTGCG ACTGTCTGCACCGTGGCCGCCCTTTCTGACTGATGATAAGGAACATTGCG ACTGTCTGCACCGTGGCTGCCCCTTCTCACCAACGCTGAGGAGCACTGCA ACCATCTGCACCGTGGCCGCCCCTTCTCACCGATGATGAGGAACATTGAG ACTGTCTGCCCCGTGGCTGCCCCTTCTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01099.hp1 HG01243.hp1 others(10): Show HG00423.hp2 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01978.hp2 HG02040.hp1 HG02257.hp2 HG02559.hp2 HG02622.hp1 HG03516.hp2 HG03540.hp2 NA18960.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0004 a0002c0008 others(1): Show a0001c0001 a0002c0004 a0002c0008 a0004c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0046 a0002c0004t0001 a0002c0008t0001 a0004c0025t0001	a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0002g0058 others(10): Show a0001c0001t0001g0029 a0001c0001t0001g0049 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0080 a0001c0001t0017g0030 a0001c0001t0046g0062 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0033 a0002c0004t0001g0094 a0002c0008t0001g0028 a0004c0025t0001g0100	13	104	0.1250	-429	c.82 others(11): Show c.8246_*8674del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4572		chr20	TogoVar
CFAP46_chr10_132803392_132947570	132914022	CCCCCGCC others(422): Show CCCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGCCCCGAGGCTGTGTCCAGCCACACTGCA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG02145.hp2 others(6): Show HG00423.hp2 HG01106.hp2 HG02145.hp2 HG02148.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 NA18950.hp2 NA18960.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0020	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0003c0007 a0003c0028 a0005c0013 a0020c0024	a0001c0001t0002 a0002c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0002 a0002c0002t0001 a0002c0003t0001 a0003c0007t0002 a0003c0028t0002 a0005c0013t0001 a0020c0024t0001	a0001c0001t0002g0032 a0002c0002t0001g0126 a0002c0003t0001g0136 others(5): Show a0001c0001t0002g0032 a0002c0002t0001g0126 a0002c0003t0001g0136 a0002c0003t0001g0175 a0003c0007t0002g0063 a0003c0028t0002g0002 a0005c0013t0001g0152 a0020c0024t0001g0215	9	234	0.0385	-429	c.212 others(18): Show c.2121-1193_2121-765del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914160	GCCCGAGG others(422): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp2 others(5): Show HG00323.hp2 HG00738.hp1 HG00741.hp2 HG01192.hp2 HG02300.hp1 NA19060.hp1 NA19066.hp1 NA20805.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0013	a0001c0001 a0003c0007 a0006c0004 others(1): Show a0001c0001 a0003c0007 a0006c0004 a0013c0014	a0001c0001t0002 a0003c0007t0002 a0006c0004t0002 others(1): Show a0001c0001t0002 a0003c0007t0002 a0006c0004t0002 a0013c0014t0002	a0001c0001t0002g0050 a0001c0001t0002g0051 a0003c0007t0002g0058 others(5): Show a0001c0001t0002g0050 a0001c0001t0002g0051 a0003c0007t0002g0058 a0003c0007t0002g0062 a0006c0004t0002g0108 a0013c0014t0002g0082 a0013c0014t0002g0083 a0013c0014t0002g0084	8	242	0.0331	-429	c.212 others(18): Show c.2121-1331_2121-903del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
DCC_chr18_52335197_53540899	53086144	CCTCCTCC others(422): Show CCTCCTCCTCTTCCTCTTCTCTTCCTCTTCTCTTCTTCTTCTTTTCTTCT TCTTCTTTTCTTCTTTCCTTCCCTTCTTCTTCTTCCGTTCTTCTTCTTCT TCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTT CTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTCTTC TTCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCT TCTTCTTCCTTTCTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTCTTCCTTTCTTCTTCTTCTTTCTT CTTCTTCCTTTCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTCTTC TTTCTTCTTCTTCCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0006 a0001c0002t0006g0021 a0001c0002t0006g0006 a0001c0002t0006g0021	2	111	0.0180	-429	c.126 others(21): Show c.1261+19979_1261+20407del	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	7/28			chr18	TogoVar
DDX51_chr12_132131594_132149319	132148890	ACCTCGGT others(422): Show ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00673.hp1 others(17): Show HG00323.hp1 HG00609.hp2 HG00673.hp1 HG01167.hp1 HG02074.hp2 HG02132.hp2 HG02280.hp2 NA18612.hp1 NA18966.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp2 NA19083.hp1 NA19089.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0004c0004 a0010c0019	a0001c0001t0001 a0001c0009t0001 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0009t0001 a0002c0002t0003 a0003c0003t0007 a0004c0004t0008 a0010c0019t0002	a0001c0001t0001g0001 a0001c0009t0001g0012 a0002c0002t0003g0004 others(3): Show a0001c0001t0001g0001 a0001c0009t0001g0012 a0002c0002t0003g0004 a0003c0003t0007g0008 a0004c0004t0008g0009 a0010c0019t0002g0052	20	293	0.0683	-429	c.-50 others(11): Show c.-5023_-4595del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4572		chr12	TogoVar
FOXN3_chr14_89151177_89422233	89362209	AGCACCAC others(422): Show AGCACCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCAC CACCACCTCCTCCTCCTCCACCACCACCACCTCCACCACCACCACCACCA CCTCCAGCACCACCTCTACCACCACCACCTCCAGCACCACCACCACCTCC TCCTCCTCCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCAC CACCTCCTCCTCCTCCACCACCACCACCACCACCTCCAGCACCAGCTCCA CCACCTCCTCCTCCACCACCACCACCACCACCACCACCATCTCCACCACC ACCACCACCATCTCTACGACCACCACCACCACCATCTCCACCACCACCTC CACCACCACCACCACCACCATCTCTACGACCACCACCACCACCACCATCT CTACGACCACCACCACCTCCACCACCATCT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0226 a0001c0001t0040g0226	1	223	0.0045	-429	c.544 others(19): Show c.544-11830_544-11402del	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
GALNT9_chr12_132191372_132334589	132231883	CACACACT others(422): Show CACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCA CACACTCGATGGGGCGACAGAGGAGACAGCATGGAGTCCCTAGTGCCACA CACTCGATGGGGCGACAGAGGAGACAGTGTGGAGTCCCTACTGCCACACA CTCGATGGGGCGACAGAGGAGACAGCGTGGAGCCCCTAGTGCCACACACT CGATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCG ATGGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGAT GGGGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGG GGCGACAGAGGAGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGG TGACAGGGACAGCGTGGAGCCCCTAGTGCT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	181	0.0055	-429	c.107 others(21): Show c.1077+15598_1077+16026del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132234736	AGACAGCG others(422): Show AGACAGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAG ACAGCGTGGAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGAC AGCGTGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAG CATGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCG TGGAGTCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGTGTG GAGCCCCTAGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGA GTCCCTGGTGCCACACACTCGATGGGGCGACAGAGGAGACAGCGTGGAGT CCCTAGTGCCACACACTCGATGGCGTGAGAGAGGAGACAGCGTGGAGTCC CTAGTGCCACACACTCGATGGGGTGACAGG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02683.hp1 HG03041.hp1 others(4): Show HG02027.hp1 HG02683.hp1 HG03041.hp1 NA18964.hp2 NA18999.hp2 NA19002.hp2 NA19070.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0011 a0001c0013 others(2): Show a0001c0002 a0001c0011 a0001c0013 a0001c0020 a0005c0033	a0001c0002t0001 a0001c0011t0001 a0001c0013t0004 others(2): Show a0001c0002t0001 a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0005c0033t0001	a0001c0002t0001g0081 a0001c0011t0001g0065 a0001c0011t0001g0116 others(4): Show a0001c0002t0001g0081 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0020t0001g0115 a0005c0033t0001g0114	7	182	0.0385	-429	c.107 others(21): Show c.1077+12745_1077+13173del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
LECT2_chr5_135941904_135959983	135959554	AGCACCAT others(422): Show AGCACCATGTCTTTTAATCCGTCAAACCTCTAACATTCCGAAAGTTCACA AACCCCCGAACTCCCAGCTTCCCAAATCCATACATAAATAAGATGAACAG GCTGCTCTGCTTGGAAAGATTGTGCCTGACCGACACAGCTCTTCCTAACT ATTGTCACTCATTCAGCTTTGTCTTTTTATTTCAGATAGTGGGTTGAGTG ATGGTCTCGTCCTCCTAAGAAACATAGTTGATCCTGTCCATACCCTGCGA CAGAACAGCTTCACTCTTAGTTATACTCTTGCATGTGTACACGTTCAAAA TGTTCATAGTAGTATCATTTGTAGTAGTGTAAAACAGGAAACAACCTATA TGTGCATCAACAGTAGAATGGGAACAAATTCTGGTATTTTTGTTTAATGA AATACCCTACAAGAATGGGAATGAATAAAA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	450	0.0022	-429	c.-51 others(11): Show c.-5150_-4722del	LECT2	ENSG00000145826.9	transcript	ENST00000274507.6	protein_coding		4572		chr5	TogoVar
S1PR4_chr19_3173769_3185332	3177700	ATCGGGCT others(422): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	-429	c.-10 others(10): Show c.-1092_-664del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1068		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3177818	TCGGGCTC others(422): Show TCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCT GGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTT TCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGC AACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGG CTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCC TCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCC TTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGC ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG03225.hp1 HG02280.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	416	0.0048	-429	c.-97 others(9): Show c.-974_-546del	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		950		chr19	TogoVar
TCERG1L_chr10_131087391_131316721	131289536	TGTGTATG others(422): Show TGTGTATGTGTGCACCGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCT CCTATCAATGTGAGTGTATGTGTGCACCGCTGTGTGTGAGGTGTGCACTG CCTCCATCTCCTATCGGTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGT GAGGTGTGCACTGCCTCCATCTATCAATGTGAGTGTACGTGTGCACTGCT GTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCGGTGTGAGTGTAT GTGTGCACTGCTGTGTGTGAGCAGGTGTGCACTGCCTCCATCTCCTATCG GTGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGAGCAGGTGTGCACTG CCTCCATCTCCTATCGGTGTGTGTGTGTATGTGTGCACTGCTGTGTGTGA GCAGGTGTGCACTGCCTCCATCTCCTATCG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0118 a0001c0002t0003g0118	1	92	0.0109	-429	c.670 others(19): Show c.670+18246_670+18674del	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	3/11			chr10	TogoVar
TENM1_chrX_124370903_125209312	124981858	TAAAAGCA others(422): Show TAAAAGCAAAAACAGGTGCAGCGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAACGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAAAAAAAAAAAATGCAGGAAATGAGAGAATGTCTGCCCC AGACATAGCAGCGTGTGGTAGCGTGATTTTGTCTAAGGTGAATACTGGGT TCATACCATTTTAAGCATTTTTTTTTCTTTAAGCTTCTCTCTCTCATTAG AAGCCCATTTTCTCTACGTGTAAAACAATGGAAGTATTGCCCGAAAAGGT AAAGTGTTGTGCATCTACGTGCTAACTTTTCCAGAGTTAACTCTAAAAAA ATGTACTAAGTAGTTTTTGAAATTAGACTCCACTATGCATCTTAATACAT AAAAGAAAATGTGAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00673.hp1 HG00738.hp1 others(43): Show HG00280.hp1 HG00673.hp1 HG00738.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18961.hp1 NA18986.hp1 NA18989.hp1 NA19030.hp2 NA19043.hp1 NA19082.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0012 a0001c0021 a0001c0029 a0001c0033 a0002c0031 a0003c0010 a0003c0014 a0003c0015 a0004c0008 a0005c0017 a0008c0009 a0009c0032 a0010c0022	a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 others(28): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0005 a0001c0004t0001 a0001c0004t0011 a0001c0004t0025 a0001c0005t0002 a0001c0005t0005 a0001c0005t0006 a0001c0007t0001 a0001c0007t0002 a0001c0007t0012 a0001c0012t0006 a0001c0021t0005 a0001c0029t0002 a0001c0033t0006 a0002c0031t0015 a0003c0010t0001 a0003c0014t0008 a0003c0015t0004 a0004c0008t0005 a0005c0017t0004 a0008c0009t0027 a0009c0032t0007 a0010c0022t0003	a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0079 others(43): Show a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0126 a0001c0001t0009g0100 a0001c0001t0009g0119 a0001c0001t0013g0131 a0001c0001t0014g0088 a0001c0002t0001g0051 a0001c0002t0001g0083 a0001c0002t0001g0104 a0001c0002t0003g0026 a0001c0002t0003g0041 a0001c0002t0004g0050 a0001c0003t0002g0007 a0001c0003t0002g0056 a0001c0003t0002g0105 a0001c0003t0002g0109 a0001c0003t0005g0114 a0001c0004t0001g0043 a0001c0004t0001g0101 a0001c0004t0011g0047 a0001c0004t0025g0137 a0001c0005t0002g0027 a0001c0005t0005g0078 a0001c0005t0006g0073 a0001c0005t0006g0075 a0001c0007t0001g0020 a0001c0007t0002g0077 a0001c0007t0012g0118 a0001c0012t0006g0099 a0001c0021t0005g0122 a0001c0029t0002g0052 a0001c0033t0006g0076 a0002c0031t0015g0094 a0003c0010t0001g0071 a0003c0014t0008g0134 a0003c0015t0004g0121 a0004c0008t0005g0054 a0005c0017t0004g0061 a0008c0009t0027g0140 a0009c0032t0007g0120 a0010c0022t0003g0065	46	138	0.3333	-429	c.-64 others(19): Show c.-64-18470_-64-18042del	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar
TMCO3_chr13_113486021_113555229	113543043	GTGACCCC others(422): Show GTGACCCCCACCTCCTCCCCCTGCCTCCCGCCCTACCTCTGTCTGTGACC CCCACCTCCTCCCCCTGCCCCCAGCCCTCCCTGTCCGTGACCACCTCCTC CCCGTGCCCCCCGCCCTACCTCTGTCCGGACCCCACCTCCTCCCCCTGCC CCTCGCCCTCCCTCTGTCCGTGACCACCTCCTCCCCCTGCGCCCCTACCC TCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCACTCTGTCCGTGA CCCCCACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACTCCACT TCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCC TGCCCTCCCTCTGTCCATGACCCCCACCTCCTCCCCCTGCCCTCCCCCTG CCCATGACCCCCACCTCCTCCCCCTGCCCA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0261 a0002c0003t0003g0261	1	365	0.0027	-429	c.169 others(19): Show c.1690+3558_1691-3807del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TRAPPC12_chr2_3374694_3484565	3437581	CCCCCATC others(422): Show CCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATT AATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATA CCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCA TCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACC CCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAG GATTAATACCCCATCACCCCAGGATTAATA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01106.hp1 others(3): Show HG00280.hp2 HG00621.hp1 HG01106.hp1 NA18971.hp1 NA19054.hp1 NA19057.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0003 a0001c0005t0003 a0001c0004t0003 a0001c0005t0003	a0001c0004t0003g0090 a0001c0004t0003g0112 a0001c0004t0003g0113 others(2): Show a0001c0004t0003g0090 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0005t0003g0002 a0001c0005t0003g0037	6	340	0.0176	-429	c.141 others(19): Show c.1418-6185_1418-5757del	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ZNF516_chr18_76352682_76500242	76394071	AGGTGGTC others(422): Show AGGTGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGG CGGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTAGT CAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGG GAAGGCAGGTGGTCAGGTGGGGGCAGGGCG	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0287 a0001c0001t0004g0287	1	336	0.0030	-429	c.181 others(21): Show c.1811-14197_1811-13769del	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82976382	TATGGAGA others(421): Show TATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGA CCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCAT CCTCCCAGGGGCCAGAGGCCACTTATGGGGAAACAGGGCCCCAGGACAGA GCCCGACTCCATCCTCCCAGGGGCCGGAGGCCACTTATGGGGAACAAGGG CCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAGAGGCCACTATG GAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTCCCAGGGACCAG AGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGGACTCCATCCTC CCAGGGACCAGAGGCCACTATGGAGAGTCAGGGCCCCGGGACAGAGCCGG ACTCCATCCTCCCAGGGACCAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	256	0.0039	-428	c.460 others(19): Show c.460-11064_460-10637del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BNC2_chr9_16404503_16875670	16845460	ACCTGTAA others(421): Show ACCTGTAATCCCAGCAATTTGGGAGGCCAAGGCGGGCGGATCACAAGGTC AGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAA AAATACAAAAAATTAGCCGGGTGTAGCGGCGTGGGCCTGTAGTCCCAGCT ACTTGGGAGGCCGAGGCAGGAGAATGGCGTGAACTTGAGAGGCGGAGCTT GCAGTGAGCCGAGATCGCACCTCTGCACTCCAGCCTGGGCGACAAAGCAA GACTCCGTCTCAAAATAAAATAAAAATAAAATAGGAAAATTATACCAAGA ATCCAAACCCCACGTTCCAGAACACAAAATGTTCAAGTTCAATGCCTCTG CATACTTAAGTTACCATATGACAGAAACAATGCAGAATTTATAAAAACTA ATTTAGTGGCCCGGGCGCGGTGGCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0087 a0001c0001t0104g0087	1	166	0.0060	-428	c.3+2 others(15): Show c.3+24758_3+25185del	BNC2	ENSG00000173068.19	transcript	ENST00000380672.9	protein_coding	1/6			chr9	TogoVar
CEP72_chr5_607340_658553	630593	GCCCAGTC others(421): Show GCCCAGTCCTGGTGGGGTTCTGTCCAGCGCCGGGATTTGGCCCAGTCCTG GTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTG TCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGG GATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCA GTCCTGGTGGGGTTCTATCCAGTGCCGGGATTTGGCCCAGTCCTGGTGGG GTTCTGTCCAGTGCCGGGATTTGACCCAGTCCTGGTGGGGTTCTGTCCAG TGCCGGGATTTAGACCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTT GGCCCAGTCCTGGTGGGGTTCTGTCCAGTGCCGGGATTTGACCCAGTCCT GGTGGGGTTCTGTCCAGTGCTGGATTTGA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18948.hp2 NA18999.hp1 HG01258.hp1 NA18948.hp2 NA18999.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0018 a0001c0001t0001g0042 a0003c0003t0002g0025 a0001c0001t0001g0018 a0001c0001t0001g0042 a0003c0003t0002g0025	3	90	0.0333	-428	c.513 others(17): Show c.513-3110_513-2683del	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP91_chr3_119698022_119772102	119701066	TTGACCCC others(421): Show TTGACCCCTGACCTAACCGATATGTTATCTATAGATTCCAGACATTGTAT GGAAAAGCATTGTGAAAATCCCTGTCCTATTCTGTTCTGTTCCGATTACC AGTGCATGCAGCTCCCAGTCACATACCCACTACTTGCTCAATCGATCACG ACCCACTCACGCAGACCCTCTTAGAGTTGTATGCCCTTAAAAGGGACAGG AATTGCTCACTCCGGGAGCTCGGTTTTCGAAGATGTGAGTCCGCCAATGC TCCCAGCTGAATAAAGCCCTTTCCTTCCATAACTCGGTGTCTGAGCGGTT CTTGTCTGTGGCTCGTCCGGCTACAAACCCACAAGTGGATAGAAAATAAC CTAATCCTATGGGACAGAAAAAGGAAAAGGGGAGGAGTCATAAGGGGATA TAAACATAAGATACCCAAACCAGAAATGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(82): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02976.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0009 a0011	a0001c0002 a0001c0007 a0003c0027 others(3): Show a0001c0002 a0001c0007 a0003c0027 a0006c0010 a0009c0026 a0011c0028	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(12): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0013 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0007t0008 a0003c0027t0031 a0006c0010t0014 a0006c0010t0017 a0006c0010t0033 a0009c0026t0032 a0011c0028t0006	a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 others(76): Show a0001c0002t0002g0001 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0038 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0102 a0001c0002t0003g0070 a0001c0002t0006g0063 a0001c0002t0006g0066 a0001c0002t0006g0068 a0001c0002t0006g0074 a0001c0002t0006g0087 a0001c0002t0006g0088 a0001c0002t0006g0103 a0001c0002t0013g0048 a0001c0002t0013g0104 a0001c0002t0019g0051 a0001c0002t0020g0064 a0001c0002t0021g0069 a0001c0002t0022g0101 a0001c0007t0008g0005 a0001c0007t0008g0006 a0001c0007t0008g0030 a0001c0007t0008g0032 a0001c0007t0008g0033 a0003c0027t0031g0100 a0006c0010t0014g0034 a0006c0010t0014g0035 a0006c0010t0017g0031 a0006c0010t0017g0036 a0006c0010t0033g0037 a0009c0026t0032g0099 a0011c0028t0006g0083	85	384	0.2214	-428	c.-20 others(11): Show c.-2032_-1605del	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding		1955		chr3	TogoVar
CFAP91_chr3_119698022_119772102	119701068	GACCCCTG others(421): Show GACCCCTGACCTAACCGATATGTTATCTATAGATTCCAGACATTGTATGG AAAAGCATTGTGAAAATCCCTGTCCTATTCTGTTCTGTTCCGATTACCAG TGCATGCAGCTCCCAGTCACATACCCACTACTTGCTCAATCGATCACGAC CCACTCACGCAGACCCTCTTAGAGTTGTATGCCCTTAAAAGGGACAGGAA TTGCTCACTCCGGGAGCTCGGTTTTCGAAGATGTGAGTCCGCCAATGCTC CCAGCTGAATAAAGCCCTTTCCTTCCATAACTCGGTGTCTGAGCGGTTCT TGTCTGTGGCTCGTCCGGCTACAAACCCACAAGTGGATAGAAAATAACCT AATCCTATGGGACAGAAAAAGGAAAAGGGGAGGAGTCATAAGGGGATATA AACATAAGATACCCAAACCAGAAATGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	384	0.0026	-428	c.-20 others(11): Show c.-2030_-1603del	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding		1953		chr3	TogoVar
CPNE7_chr16_89570758_89602246	89579811	GTCACACG others(421): Show GTCACACGGAACATCCCACACCCATCACACGGAACATCTCACCCATCACA CGGAACATCCCGTCACCTGCTGACACGGAACATCTCACCCATCACACGGA ACATCCCGTCACCCGCTGACACAGAACATCTCACCCGTCACATGGAACAT CCCGTCACCCGTCACACGGAACATCCCATCACACGGAACATCTCACCCAT CACACGGAACATCCTGTCACCCGCTGACACGGAACATCTCACCCGTCACA CGGAACATCCCATCACCTGCAGACACGGAACATCTCACCCATCACACAGA ACATCCCGTCACCCGCTGACACAGAACATCTCACCCGTCACACGGAACAT CCCGTCACCCGCTGACACAGAACATCTCACCCGTCACACGGAACATCCCG TCACCCGCTGACACGGAACATCTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(213): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0011	a0001c0001 a0001c0002 a0001c0005 others(15): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0012 a0001c0023 a0001c0024 a0001c0025 a0001c0029 a0002c0003 a0002c0010 a0003c0006 a0004c0011 a0006c0018 a0008c0019 a0011c0021	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(26): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0005t0002 a0001c0007t0006 a0001c0008t0002 a0001c0009t0001 a0001c0012t0002 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0029t0001 a0002c0003t0003 a0002c0003t0007 a0002c0010t0001 a0003c0006t0003 a0004c0011t0001 a0006c0018t0002 a0008c0019t0002 a0011c0021t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 others(206): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0333 a0001c0001t0008g0050 a0001c0002t0001g0029 a0001c0002t0001g0163 a0001c0002t0002g0008 a0001c0002t0002g0036 a0001c0002t0002g0041 a0001c0002t0002g0045 a0001c0002t0002g0087 a0001c0002t0002g0190 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0235 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0257 a0001c0002t0002g0270 a0001c0002t0002g0292 a0001c0002t0002g0319 a0001c0002t0002g0329 a0001c0002t0003g0022 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0044 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0054 a0001c0002t0003g0080 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0188 a0001c0002t0003g0201 a0001c0002t0003g0220 a0001c0002t0003g0225 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0253 a0001c0002t0003g0266 a0001c0002t0003g0282 a0001c0002t0004g0055 a0001c0002t0004g0056 a0001c0002t0004g0057 a0001c0002t0004g0215 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0224 a0001c0002t0004g0231 a0001c0002t0004g0261 a0001c0002t0004g0264 a0001c0002t0004g0317 a0001c0002t0004g0320 a0001c0002t0004g0321 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0191 a0001c0002t0005g0287 a0001c0002t0007g0007 a0001c0002t0009g0318 a0001c0002t0010g0210 a0001c0002t0011g0195 a0001c0002t0013g0189 a0001c0005t0002g0001 a0001c0005t0002g0042 a0001c0005t0002g0043 a0001c0005t0002g0076 a0001c0005t0002g0109 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0234 a0001c0005t0002g0243 a0001c0007t0006g0075 a0001c0007t0006g0252 a0001c0008t0002g0013 a0001c0008t0002g0019 a0001c0009t0001g0017 a0001c0009t0001g0065 a0001c0012t0002g0288 a0001c0012t0002g0289 a0001c0023t0001g0223 a0001c0024t0001g0208 a0001c0025t0001g0193 a0001c0029t0001g0263 a0002c0003t0003g0077 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0007g0290 a0002c0010t0001g0239 a0003c0006t0003g0164 a0003c0006t0003g0226 a0003c0006t0003g0227 a0003c0006t0003g0228 a0003c0006t0003g0260 a0003c0006t0003g0267 a0003c0006t0003g0268 a0003c0006t0003g0334 a0004c0011t0001g0081 a0004c0011t0001g0106 a0006c0018t0002g0001 a0008c0019t0002g0246 a0011c0021t0001g0216	216	346	0.6243	-428	c.357 others(17): Show c.357+2108_357+2535del	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DIP2C_chr10_269201_694668	671568	CAGACGCA others(421): Show CAGACGCACGGACGGAGGAAACGTCACAGACGCACCGACGGAGGAAACGC CACAGACGCACGGACGGAGGAAACGTCACAGACGCACGGACGGAGGAAAC GTCACAGACGCACCGACGGAGGAAACGCCACAGACGCACGGACGGAGGAA ACGCCACAGACGCACGGACGGAGGAAACGTCACAGACGCACGGACGGAGG AAACGCCACAGACGCACGGACGGAGGAAACAGGCCACAGACGCACGGACG GAGGAAACGCCACAGACGCACGGAAGGAGGAAACAGGCCACAGACACACG GAAGGAGGAAACAGGCCATAGACACACGGACGGAGGAAAAGCCACAGACG CACGGAAGGAGGAAACAGGCCACAGACACACGGAAGGAGGAAACAGGCCA CAGACACACGGAAGGAGGAAACAGGCCAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0085 a0001c0001t0003g0085	1	88	0.0114	-428	c.85+ others(17): Show c.85+17498_85+17925del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar

Search by Variant

Search

Search Results