Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1460389	AAACCTGC others(503): Show AAACCTGCCTGTGACCTGAATTTACCTGCGTAACAAACCTGCCTGTGACC TGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCGTT ACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAACGAACCTGCCTGTGA CCTGAGTTTACCTGCGTAACGAACCTGCCTGTGACCTGAGTTTACCTGCG TTACGAACCTGCCTGTGACCTGAGTTTACCTGCGTAGCAAACCTGCCTGT GACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTACCTG TGTAACAAACCTGCCTGTGACCTGAATTTACCTGTGTAGCAAACCTGCCT GTGACCTGAGTTTACCTGCGTAACAAACCTGCCTGTGACCTGAGTTTACC TGTGTAGCAAACCTGTCTGTGACCTGAGTTTACCTGTGTAGCAAACCTGC CTGTGACCTGAGTTTACCTGTGTAACGAACCTGCCTGTGACCTGAGTTTA CCTGCGTTACG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	106	0.0094	-510	c.101 others(19): Show c.101-81739_101-81230del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANO2_chr12_5557655_5950259	5932016	CAGACGAG others(503): Show CAGACGAGTGAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAG TGACTAATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGATAGACTAGT AAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACG AGTAAGGAAAGAAGACAGAAAAGGAAGGAAGACTGGTAAGAAAGTGACTA ATAAGGAAAGAAGGTAGACGAGTGAGGAAAGAAGGTAGACTAGTAAGGAA GGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAG GAAAGAAGATAGACTAGTAAGGAAGGAAGACTGGTAACAAAGTGACTAAA AAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGATAGACTAGTAAGGAAGG AAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTGAGGA AAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAA GGAAAGAAGGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	162	0.0062	-510	c.23- others(15): Show c.23-9722_23-9213del	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ARMC7_chr17_75104969_75135272	75111633	GAGGCTGA others(503): Show GAGGCTGAGGTGGGAGGATTGCTTAAGCCTGGGAGGTCAAGGCTGCAGTG AGCTGGGATTGGGCCACTGTACTCCAGCCTGGGTGACAAAACGAGAATCT GTCTCAAAAACAAAAATAACTCATATTTAGTGTTTTCATATCAAGAGAAG CAGAGATGGCTTGCAGTCTGTAACTTATGGCTTCTGTAGTTGTTATGATC TTAAGACCTATTGAGTTATTCACTGGGTAGATATTTATTGCGCGTGTACC GTATATGCAAGCTACTGCTCTAAATGCTGGAGTATGGTGAACAGCTTAGG GAAAGGTCTTTGCCCCTCAGGAGCTTACATTCTAGTAGGGGGGACAGGTG GTTAGCAAACAAAAAAGATGATGCTCAGAAGGAAGTAAATGGGGTGATGA GAGACAGCAGTGGAAGGTGGGGGTTACTTCAGTTTTGGCCATCATGAGAA AGGCATTTTAGCCGGGACACAGCATGGGCAAAGGCCTTAAAACAGGAAGG AGCCAGACGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02258.hp2 others(5): Show HG01884.hp1 HG02109.hp1 HG02258.hp2 HG02717.hp2 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0004 a0001c0001t0011 a0002c0002t0004	a0001c0001t0011g0045 a0001c0001t0011g0046 a0002c0002t0004g0010 others(3): Show a0001c0001t0011g0045 a0001c0001t0011g0046 a0002c0002t0004g0010 a0002c0002t0004g0047 a0002c0002t0004g0048 a0002c0002t0004g0049	8	402	0.0199	-510	c.235 others(17): Show c.235+1035_235+1544del	ARMC7	ENSG00000125449.7	transcript	ENST00000245543.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr17	TogoVar
BRF1_chr14_105204286_105306001	105240366	ACAGCCCT others(503): Show ACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGG GGACAGCCTGG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	72	0.0139	-510	c.694 others(15): Show c.694+389_694+898del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
C1orf159_chr1_1076823_1121089	1078715	AGGCTGAG others(503): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02818.hp2 others(9): Show HG02280.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0005 a0005c0007 a0001c0002 a0001c0005 a0005c0007	a0001c0002t0004 a0001c0005t0010 a0005c0007t0004 a0001c0002t0004 a0001c0005t0010 a0005c0007t0004	a0001c0002t0004g0006 a0001c0002t0004g0009 a0001c0002t0004g0071 others(8): Show a0001c0002t0004g0006 a0001c0002t0004g0009 a0001c0002t0004g0071 a0001c0002t0004g0230 a0001c0002t0004g0232 a0001c0002t0004g0291 a0001c0002t0004g0296 a0001c0002t0004g0301 a0001c0002t0004g0306 a0001c0005t0010g0227 a0005c0007t0004g0292	12	326	0.0368	-510	c.36 others(11): Show c.3668_*4177del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3107		chr1	TogoVar
CFAP46_chr10_132803392_132947570	132822739	GTGATGTG others(503): Show GTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGTGTGTGCACTTGTGTG TGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTGTGTGCTGATGTGTGC TGATGTGTGCACTGTGTGCTGTGTGCGGTGATGTGTGCTGTGTGTGCGCT GATGTGTGCTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGC ACTGTGTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCAGTGATGTGTG CTGTGTGTGTGCTGATGTGTGCTGTGTGTGCTGTGTGCTGTGTGTGCGCT GATGTGTGCTGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCTGATGT GTGCTTTGTATGTGCTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTCTG TGTGCTGATGTGTGCTGTGTGAGTGATGTGTGCTGTCTGTGCGCTGTGTG CTGATGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGTGTGCTGTGTGC TGTGTGAGCGC	G G	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0050 a0050	a0050c0104 a0050c0104	a0050c0104t0001 a0050c0104t0001	a0050c0104t0001g0236 a0050c0104t0001g0236	1	246	0.0041	-510	c.711 others(19): Show c.7118-8335_7118-7826del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CLUL1_chr18_591988_655182	633951	CTGATTCT others(503): Show CTGATTCTTTGGAAAGAAATTTAGAACTCACATCTAACAATTTTTTAGGG TTTCTTTAGTATTCTGGACAGAGGACAAAATCTCATTCTCACAAGCATAG TGGATTCATTTGCTTTCCTCCAAGCACTTTTTTGCAGGCTCATTTCCATC TGGGGGCGTTCAATGTAGGTTTATAAACTGGTGTTTTGTTTGTTTGTTTT ATGAGACAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGGCACAATCTCGG CTCACTGCAACCTCCACCTCTCGGGTTCAAGCAATTCTCCTGCCTCAGCC TGCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTT TTTTGTATTTTTAGTAGGGACGAGGGTTTCACCATATTGGCCAGGCTGGT CTCGAACTCCTGACCTTGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGCATGAACCACCGTGCCTGGCCTGGTTTATAAACTTTTATT ATTCCAAAGTA	C C	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	414	0.0024	-510	c.994 others(16): Show c.994+519_994+1028del	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
GAL3ST2_chr2_241771822_241809287	241807296	TCCCTCCC others(503): Show TCCCTCCCGCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCAGCTTCCCTCCCCCCTCACGCCAGGG ACCCGGGAAGAGCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0156 a0002c0002t0002g0156	1	314	0.0032	-510	c.31 others(11): Show c.3131_*3640del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3010		chr2	TogoVar
GALNT9_chr12_132191372_132334589	132290743	ACAGCACC others(503): Show ACAGCACCCACATCCACAGCACCCACAACCACAGCACCCACGTCCACAGC ACCCACGTCCACAGCACCCACGTCCACAGCACCCACGTCCACAGCGCACA CGTCCACAGCACCCACAACCACAGCGCCCACGTCCACATCACCCACATCC ACAGCACCCACGTCCACAGCACCCACATCCAGAGCACCCACGTCCACACC ACCCACATCCACAGCGCCCACATCCACAGCACCCACAACCACAGCACCCA CAACCACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCC ACAGCGCCCACATCCTCAGCACCCACAACCACAGCACCCACGTCCACATC ACCCACGTCCATAGCACCCACATCCACAGCACCCACATCCACAGCACCCA CAACCACAGCACCCACGTCCACAGCACCCACAACCACAGCACCCACAACC ACAGTGCCCACGTCCACACCACCCACATCCACAGCGCCCACGTCCACAGC GCCCACGTCCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(51): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03492.hp1 HG03688.hp2 HG03834.hp1 NA18945.hp2 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18980.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19063.hp2 NA19070.hp1 NA19080.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0001c0015 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0004c0024	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0012t0002 a0001c0013t0004 a0001c0015t0001 a0001c0020t0001 a0001c0021t0004 a0001c0022t0001 a0001c0027t0001 a0004c0024t0001	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0042 others(51): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0008g0003 a0001c0002t0001g0025 a0001c0003t0001g0012 a0001c0003t0001g0014 a0001c0003t0001g0041 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0123 a0001c0003t0001g0128 a0001c0003t0001g0139 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0106 a0001c0005t0001g0037 a0001c0012t0002g0180 a0001c0012t0002g0181 a0001c0012t0002g0183 a0001c0013t0004g0036 a0001c0013t0004g0095 a0001c0013t0004g0124 a0001c0015t0001g0024 a0001c0020t0001g0115 a0001c0021t0004g0155 a0001c0022t0001g0120 a0001c0027t0001g0082 a0004c0024t0001g0160	54	183	0.2951	-510	c.239 others(17): Show c.239-4823_239-4314del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10			chr12	TogoVar
KNDC1_chr10_133155219_133231412	133222716	TGTGTGTG others(503): Show TGTGTGTGCATGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGCG TGTGCGTGAGAGCCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGTGAGAG CCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGG CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG AGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCA TCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCA TGCTCTTCCCG	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0211 a0001c0004t0002g0211	1	332	0.0030	-510	c.501 others(19): Show c.5019-1935_5019-1426del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186034	AGGAATAC others(503): Show AGGAATACGGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	350	0.0029	-510	c.26 others(11): Show c.2654_*3163del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2955		chr16	TogoVar
LUZP1_chr1_23079030_23173856	23111224	ACTGATAA others(503): Show ACTGATAATAAAAACAGCTAGAAAATAAGTATAAAAAAGGATCTAGGCCA GGCACAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCAG GAGGATTGCTTGAACCCAGGAGTTCAAGAACAGCCTGGACAACAACAAAG CAAGGCCCCCATCTCTACAAAAAAAAAAAAATTTTAATTAGCTGGGCATG GTGATGCACACCTATAGTCCTAGCTACTTGGGAGACTGAGACGGGAGGAT CACCTGGAGCCCAGAAGTTTGAGGCTGCTGTGAGCCACAGTTGTCCTACT GCACTCCAGCTTAGATGACAGAGTGACGCTCTATATTTAAAAATAATTTT AAAAACGATCTATACCAAGGCGGCACCCAAGAGATAGCTTAGGTGGATGT GGGGGAAGCTTTAGCTCTCCACCCTCTGCTTTTAAAAAATAATCAATGGA AGTTAAAGTAAGTGTGATTGGTATTCAAATAGTTTTAGGACAGTTCCACA GACTTTCCGTC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0318 a0001c0001t0010g0318	1	322	0.0031	-510	c.-22 others(19): Show c.-225-2607_-225-2098del	LUZP1	ENSG00000169641.15	transcript	ENST00000302291.9	protein_coding	1/3			chr1	TogoVar
PCGF3_chr4_700832_775089	746010	CCGGGGGT others(503): Show CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01496.hp1 others(5): Show HG01109.hp1 HG01256.hp1 HG01496.hp1 HG01928.hp2 HG01981.hp2 HG02293.hp2 HG02300.hp2 NA18747.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0053 a0001c0001t0003 a0002c0002t0003 a0002c0002t0053	a0001c0001t0003g0065 a0002c0002t0003g0060 a0002c0002t0003g0061 others(5): Show a0001c0001t0003g0065 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0053g0059	8	366	0.0219	-510	c.462 others(17): Show c.462+1324_462+1833del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746123	CCCGGGGG others(503): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAG GCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTC CGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0023 a0001c0001t0028g0024 a0001c0001t0028g0023 a0001c0001t0028g0024	2	366	0.0055	-510	c.462 others(17): Show c.462+1438_462+1947del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLEKHG4B_chr5_87168_194966	164851	CAGGGGGC others(503): Show CAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACAGT AATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCT TACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAA TGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCT CTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACT AATGCTCTGAC	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG00280.hp2 HG01081.hp2	a0040 a0041 a0040 a0041	a0040c0063 a0041c0064 a0040c0063 a0041c0064	a0040c0063t0063 a0041c0064t0010 a0040c0063t0063 a0041c0064t0010	a0040c0063t0063g0189 a0041c0064t0010g0190 a0040c0063t0063g0189 a0041c0064t0010g0190	2	210	0.0095	-510	c.347 others(19): Show c.3476+1304_3476+1813del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PRKCA_chr17_66297613_66815743	66799058	GTGGTGGT others(503): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGACGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGACGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGATGGTAATGGTGGTGGTGATGGTGGTGGTAGTGACGGTGGTGGTGGT GGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18999.hp2 HG02056.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0067 a0001c0002t0003 a0001c0002t0067	a0001c0002t0003g0031 a0001c0002t0067g0093 a0001c0002t0003g0031 a0001c0002t0067g0093	2	178	0.0112	-510	c.185 others(19): Show c.1855-4800_1855-4291del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1078715	AGGCTGAG others(503): Show AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGCACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGC TATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGC TATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGG AGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGGGGGGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02280.hp1 HG02818.hp2 others(8): Show HG02258.hp2 HG02280.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 HG03579.hp1 NA19240.hp2	a0002 a0009 a0002 a0009	a0002c0002 a0009c0009 a0002c0002 a0009c0009	a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 others(1): Show a0002c0002t0005 a0002c0002t0012 a0002c0002t0019 a0009c0009t0018	a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 others(2): Show a0002c0002t0005g0008 a0002c0002t0005g0046 a0002c0002t0012g0018 a0002c0002t0019g0047 a0009c0009t0018g0048	11	324	0.0340	-510	c.-52 others(11): Show c.-5219_-4710del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		4410		chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43905475	TGTTCCCC others(503): Show TGTTCCCCTTCCCACCACTCTTCCTCTCCGTCCTCCTGTTCCCCTTCCTG TCACTTTTCCTCCCCCTCCTTCTGCTCCTATTCCTGCCACTGTTTCTCCC CCTCCTCCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTC TCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCACTG TTTCTCCCCCTCCTTCTGCCCCCCTTCCCACCACTCTTCCTCCCCCTCCT CCTGTTCCCCTTCCTGCCACTCTTCCTCCCCCTCCTCCTGCTCCTCTTCC TGCCACTCTTCCCCTGCCACTTTTCCTTCCCCTCTTCCTGTTTCTCTTCC TACCACTCTTCTTTCTCCTCCTCCTGTTCCTCTTCCTCCCCATCCTCCTG TTTCCTTTCCCGCCACTTTTCTTCACCTCCTCCTGTTCCTCTTCCCACCA CTCTTCCCCCTCCTCCTCCTGCTCCTCTCCCACCACTCTCCCCTCTCCTC CTCCTGCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp1 NA20129.hp1 HG02809.hp2 HG02896.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117	3	274	0.0110	-510	c.744 others(17): Show c.744+5749_744+6258del	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11			chr1	TogoVar
THBS3_chr1_155190588_155212897	155190613	CCGGCCTG others(503): Show CCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTC GAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGT GTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAA ACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCG AGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG TCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGC CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	298	0.0034	-510	c.47 others(11): Show c.4718_*5227del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4974		chr1	TogoVar
TNK2_chr3_195858364_195913551	195880568	GCCCCCCA others(503): Show GCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTGTAACA CCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCATATATCCCTGTATCA CCTAACTCAGCAATGACCCTCGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAA CACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTA ACACCCGCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCT GTAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCGTCTATCCCT GTAACACCCGCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCC CTCTAACACCACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGT CCCTCTAACAC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	372	0.0027	-510	c.887 others(16): Show c.887+973_888-1394del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
WRAP73_chr1_3625770_3655103	3643863	CGGCCCCG others(503): Show CGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCA GCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCC AGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACC CAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGAC CCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGA CCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGG ACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGG GACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGG GGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAG GGGACCCAGCGGCCCCGCTGAGCCCCGGACATGGGGTCGCGCCTTCGGAA GGGGATCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp1 others(74): Show HG00099.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG02027.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02486.hp2 HG02523.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG03490.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1 NA19087.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0033 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0005g0046	77	382	0.2016	-510	c.339 others(17): Show c.339+2293_339+2802del	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ABR_chr17_998519_1184981	1163746	GGGACCCT others(502): Show GGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGGCC CCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGG TGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGAC CCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAG GTGGGACCCTGGCGAAGTGTCACACACAGCACTGAATCCAGACGCAGGGG CCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTA GGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGG ACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCC AGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGG GGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATC TAGGTAGGAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02886.hp2 others(2): Show HG02055.hp2 HG02145.hp1 HG02886.hp2 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0014 a0001c0001t0031 others(2): Show a0001c0001t0008 a0001c0001t0014 a0001c0001t0031 a0001c0001t0073 a0001c0002t0012	a0001c0001t0008g0019 a0001c0001t0014g0243 a0001c0001t0031g0240 others(2): Show a0001c0001t0008g0019 a0001c0001t0014g0243 a0001c0001t0031g0240 a0001c0001t0073g0245 a0001c0002t0012g0244	5	337	0.0148	-509	c.61+ others(17): Show c.61+15412_61+15920del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADGRA1_chr10_133082924_133136675	133136166	GTAGGGGT others(502): Show GTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTC TGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTG GGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTC TCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGG GTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTT CTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGG GGGTTCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTG TGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCC CTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGG TCCCTTTGGGGGGGTCCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCT CTGGGTCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0005 a0011c0011t0005	a0011c0011t0005g0252 a0011c0011t0005g0252	1	368	0.0027	-509	c.66 others(11): Show c.6656_*7164del	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding		4492		chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8093455	GGGTCAAA others(502): Show GGGTCAAAGGGGCCTGCACTGCGCACCCAACAATAATACTGGCAGCTGTC ACTTACTGAGGAGCTATCACGTCTCTGTCATTGAATCAGATCCTTTGCAT ACACCATTTTAAAATATGAAACAGGCCAGGCGCGGTGGCTCACGCCTATA ATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCGCCTGAGGTTGGGAG TTTGAGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATA CAAAATTAGCCGGGGTGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCG GTGAGCCGAGATCGTGCCATTGTACTCCAGTCTGGGCAACAAGAGCGAAA ATCCGTCTCAAAGAATAATAAATAAATAAATAAATAAATAAATAAATAAA TAAATAAATAAATAAAACAAATACATAGCTCTATTTAAAATGCTTGGCAG CCAGGCGCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03471.hp1 HG03540.hp2 HG02723.hp1 HG03471.hp1 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0014 a0001c0001 a0007c0014	a0001c0001t0002 a0007c0014t0002 a0001c0001t0002 a0007c0014t0002	a0001c0001t0002g0025 a0001c0001t0002g0350 a0007c0014t0002g0272 a0001c0001t0002g0025 a0001c0001t0002g0350 a0007c0014t0002g0272	3	422	0.0071	-509	c.26 others(11): Show c.2663_*3171del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding		2444		chr17	TogoVar
BRF1_chr14_105204286_105306001	105236336	GAGGCCAC others(502): Show GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTCAG GAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGG GACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCCACAACCTAGCATCTC AGGAGAAAAAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGG GGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGAGCACAACCTAGCATCT CAGGAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	72	0.0139	-509	c.694 others(17): Show c.694+4420_694+4928del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105236414	AACAACCT others(502): Show AACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTC GCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCCTCAGGA GCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAG TCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTCAG GAGCCACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGT AGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCTGTGGCACCCTC AGGAGCCACAACCTAGCATCTCAGGAGAAAAAGGCCACACCACTGTCCGC GTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACCC TCAGGAGCACAACCTAGCATCTCAGGAGAAAAAGGCCACACCACTGTCCG CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTGGCACC CTCAGGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	72	0.0139	-509	c.694 others(17): Show c.694+4342_694+4850del	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
EIF3B_chr7_2349827_2385745	2377490	GCTCCTGG others(502): Show GCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCAAGGAGGAAG GAGCAGGCACGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGG GATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGT GTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGC TGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01175.hp1 others(9): Show HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0188 a0002c0002t0001g0259 others(8): Show a0002c0002t0001g0018 a0002c0002t0001g0188 a0002c0002t0001g0259 a0002c0002t0001g0269 a0002c0002t0001g0274 a0002c0002t0001g0286 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0346 a0002c0002t0001g0347 a0002c0002t0001g0348	12	384	0.0313	-509	c.215 others(17): Show c.2154+434_2155-672del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377509	GTGTGAAT others(502): Show GTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCACGAGCGCTCC TGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGC TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGG GTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGGATGCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA TGCTGTGTTC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02486.hp1 others(3): Show HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02717.hp2 HG02896.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0339 a0001c0001t0001g0340 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341	6	384	0.0156	-509	c.215 others(17): Show c.2154+456_2155-650del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PACS1_chr11_66065272_66249744	66205245	AAAGTGCT others(502): Show AAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAAACAATTA TTTTAATTATAAAAATTTTTTTAATGTTTTAAAGATCTGATATTTGATAG TGCAACAGGACGATTACAGTCAATGATAATTTATAGTACATTTAAAAATA ACTAAAAGTATAATTGGAATATTTGTAACATAAATAAATGATAAATGCTT GAGGCGATGGATACCCAATATAACCTGATGTGATTATTACATGTTGTATG CCTGTACCAAAATGTCTTATGTACCCCATAAATATATATGCCATGTACCC ATAAAAATTATTAGTTAAAAATTGAAATAAAGAATAAATGAAAAATAACA GCTTATTTTCAGACATCCAAGAAACCCCAACAAATTTCCTCAAATATCAC TACAATACTCTTAATTTTTTTTTTTTTTTTTTGAGAATGGGATCTCACTA TGTTGCCCAGGCAGCTCTTATACTCCTGGGCTCAAGCTATCCTTCCACCT CTGCCTCCTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03225.hp1 HG02622.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0306 a0001c0001t0001g0060 a0001c0001t0001g0306	2	322	0.0062	-509	c.445 others(17): Show c.445-5085_445-4577del	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
THBS3_chr1_155190588_155212897	155190771	GGGGGGGC others(502): Show GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGAC ACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGG GGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCT GGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACA CCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGC CGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGG TGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGG GCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGT GGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02976.hp1 HG03041.hp1 others(1): Show HG01891.hp2 HG02976.hp1 HG03041.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0003t0001g0021 a0002c0002t0001g0003 a0001c0001t0001g0005 a0001c0003t0001g0021 a0002c0002t0001g0003	4	298	0.0134	-509	c.45 others(11): Show c.4561_*5069del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4816		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179313387	CCGAGACA others(501): Show CCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACG CACACGCATTCACACTCATGCACACACTCACACCGAGACAGAGGAGGGCC TGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCA TGCACACACACACATCGAGACAGAGGAGGGCCTGGCCAGAGCAGGGGTGT CAGCAGAGGGGACGCACAAGCATTCACACTCATGCACACACACACTCACA CCGAGACAGAGGAGGGCCTGGCCGGAGCAGGGGTGTCAGCAGAGAGGACG CACACGCATTCACACTCGTGCACACACACACTCACACCGAGACAGAGGAG GGCCTGGCCAGAGCAGGGGTGTCAGCAGAGGGGACGCACAAGCATTCACA CTCATGCACACACACACTCACACCGAGACAGAGGAGGGCCTGGCCGGAGC AGGGGTGTCAGCAGAGGGGACGCACACGCATTCACACTCGTGCACACACA CACTCACAT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0007 a0007	a0007c0005 a0007c0005	a0007c0005t0003 a0007c0005t0003	a0007c0005t0003g0273 a0007c0005t0003g0273	1	276	0.0036	-508	c.534 others(19): Show c.534+29872_534+30379del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
C7orf50_chr7_992006_1143247	1127635	AGGCTGGA others(501): Show AGGCTGGAGTGCAGTGGCACAATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCACAATCTCGGCTGATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCAGGCTGGAGTGC AGTGGCACGATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTG GCACAATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCAC GATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATC TCGGCTCATCCCACCCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTC GGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCT CATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATC TCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCAC CGTCACCCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 HG02965.hp2 HG01884.hp1 HG02886.hp1 HG02965.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0299 a0002c0002t0003g0302 a0002c0002t0003g0303 a0001c0001t0002g0299 a0002c0002t0003g0302 a0002c0002t0003g0303	3	326	0.0092	-508	c.-1- others(13): Show c.-1-757_-1-250del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1127701	AATCTCGG others(501): Show AATCTCGGCTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCGCGATC TCAGCTCATCTCACCGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGG CTGATCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACAATCTCGGCTCA TCCCACCGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCC ACCGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCC TGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTC ACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCC	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	326	0.0031	-508	c.-1- others(13): Show c.-1-823_-1-316del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12693968	TATATAAT others(501): Show TATATAATATATATTATATATACATATAATATATATAATATATATTAAAT ATATATAATATATATAAAATATACATATAATATATATTATATATATAATA TATAAAAAATATTATGTATAATATATATTATATAATATATAATATATATT ATGCATAATATATATTATATATAATATAATATATAATATATATTATGCAT AATATATATTATATATAATATAATATATATTATATATTATGTATAATATA AAATATATATTATGTATAATATATAATATATATTATGTATAATATATAAT ATATATTATACATAATATAAAATATATATTATATATAAAATATATAAAAT ATAATATATAAAGTATATATAATATATAACATATATATGTTATATGTTAT ATATAAAATATAAAATATATATGTTATATATCATATATAAAATATAAAAT ATATATGTTATATATCATATATAAAATATGAAATATATATGTTATATATC ATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02040.hp2 HG03486.hp1 others(5): Show HG01069.hp2 HG02040.hp2 HG03486.hp1 HG03491.hp2 HG04184.hp2 NA18906.hp1 NA18954.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0033 a0001c0001t0036 a0001c0001t0043 a0001c0001t0086 a0001c0002t0051	a0001c0001t0002g0139 a0001c0001t0011g0009 a0001c0001t0018g0013 others(5): Show a0001c0001t0002g0139 a0001c0001t0011g0009 a0001c0001t0018g0013 a0001c0001t0033g0185 a0001c0001t0036g0022 a0001c0001t0043g0026 a0001c0001t0086g0181 a0001c0002t0051g0179	8	214	0.0374	-508	c.299 others(19): Show c.299+27164_299+27671del	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
FBLN7_chr2_112133385_112193218	112139421	GGCCAGTG others(501): Show GGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTC TCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCC TCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCC CGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCTAGTGTCC CTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCAGGTCAGC GTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTCCCGCCTCTCTCCACGC CAGTGTCCCTCCCGCCTCTCTCCAGGTCAGTGTCCCTCCCGCCTCTCTCC ACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCT CTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGC CTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTCTCCCCTGTCCCGCGCGCC TCTCTCCAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp1 HG02145.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0027 a0001c0001t0001g0028	2	346	0.0058	-508	c.75+ others(14): Show c.75+705_75+1212del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
LMF1_chr16_848634_975984	952939	AACCAGCC others(501): Show AACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCCTCCTACAT ATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAGACACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTC CTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATATCCACACAG ACACCCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CTTCCTACACGTTCACACAGACACGGACCCCAAACCAGCCTCCTACACGT CCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACAC GGACCCCAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	294	0.0034	-508	c.503 others(16): Show c.503+910_503+1417del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953477	CCACCCCA others(501): Show CCACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCCAAACCAGCC TCCTACATATCCACACAGACACCCCAAACCAGCCTCCTACATATCCACAC AGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAA CCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTACATGT CCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACAC CCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACC AGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTACAT GTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGAC ACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAG CTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGT CCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03491.hp2 HG03654.hp2 others(5): Show HG01106.hp1 HG03491.hp2 HG03654.hp2 NA18947.hp2 NA18973.hp2 NA18982.hp2 NA19003.hp1 NA19088.hp2	a0001 a0020 a0023 a0001 a0020 a0023	a0001c0001 a0001c0003 a0020c0059 others(1): Show a0001c0001 a0001c0003 a0020c0059 a0023c0063	a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0017 a0001c0003t0001 a0020c0059t0002 a0023c0063t0001	a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0163 others(5): Show a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0181 a0001c0001t0017g0162 a0001c0003t0001g0133 a0020c0059t0002g0199 a0023c0063t0001g0187	8	294	0.0272	-508	c.503 others(15): Show c.503+372_503+879del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRP2_chr2_169122109_169367534	169326874	TCTGGGAT others(501): Show TCTGGGATGTGAGGAGTGCCTCTGCCCGGCGGCGACCCCGTCTGGGAGGT GAGGAGCGTCTCTGCCCAGCCGCCCCGTCTGAGAAGTGAGGAGACCCTCC ACCCAGCATCCGCCCCATCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGC CACCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCGCCCAGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGG AGGGAGGTGGGGGGGTCAGCCCCACGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18982.hp2 NA18979.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0045 a0001c0005t0002g0058 a0001c0005t0002g0045 a0001c0005t0002g0058	2	250	0.0080	-508	c.80- others(15): Show c.80-6498_80-5991del	LRP2	ENSG00000081479.15	transcript	ENST00000649046.1	protein_coding	1/78			chr2	TogoVar
MAN1C1_chr1_25611791_25789450	25767759	CTCACATA others(501): Show CTCACATAATCCACACTCCCCTAACACACACGCATTACACACTCCCCTCA CGTACATCCACACTCCCCTCACACACACTACACACACATTACATACACTC CCCCCACACACTCCCCTCACATACATTCACACTCCCCTCATACACACACA TTACACACTCCCCCACACAGACCCACACACCCACACTCCCCTCACATACA TCCACACTCCCCTCACACACACCACACACACATTACATACACTCCCCCAC ACACACAGACCCACACACCCACACTCCCCTCACATACATCCACACTCCCC TCACACACACACACACTCCCCCCCACACACAGACCCACACACCCCTCACA TACATCCACGCTCCCTTAACACACACACACTACATACACTCCCCCTACAT ACACTCCCCTCACACACCCACAGTCCCCTCACATACATCCACACTCCCCT CACACATACACACATTACACACACTCCCCTCACACACATCCACACTCCCC TCACACACA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0154 a0001c0002t0003g0154	1	250	0.0040	-508	c.114 others(19): Show c.1141+3800_1142-3383del	MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
MVB12B_chr9_126321829_126512040	126484856	TTCCACTG others(501): Show TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCGTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGG TCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTG CTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACC TTCCACTGTGCTTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGT CAGGGTACCTTCCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGC TTCATGAGGTCAGGGTACTTCCACTGTGCTTCATGAGGTCAGGGTACCTT CCACTGTGCTTCATGAGGTCAGGGTACCTTCCACTGTGCTTCATGAGGTC AGGGTACCG	T T	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	318	0.0031	-508	c.873 others(16): Show c.873+883_873+1390del	MVB12B	ENSG00000196814.15	transcript	ENST00000361171.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RNF223_chr1_1065967_1079306	1076227	TGGCTGAG others(501): Show TGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACT CCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGC TACGGGGACTCCGTGCTGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGG AGGCTGAGTCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACT CCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGCAGGCTGAGGCT ATGGTGACTCCGTGCAGGGCTGTGAGGCTACGGGGACTCCGTGGGGGGTG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTA CGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01243.hp2 others(10): Show HG01106.hp1 HG01109.hp2 HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02300.hp1 HG02486.hp2 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG03453.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0007g0012	13	324	0.0401	-508	c.-27 others(11): Show c.-2729_-2222del	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		1922		chr1	TogoVar
SARDH_chr9_133658560_133743352	133668716	CACCCTCC others(501): Show CACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTC TCCCCTACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC CCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCT CTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCT CACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTCCCCTT ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTCCCTCTCCCTCAC CCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTT CCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCC CTCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	262	0.0038	-508	c.249 others(19): Show c.2495+1360_2496-1847del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1289062	TCTGCTCC others(501): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT CCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0132 a0012c0022t0006g0132	1	290	0.0035	-508	c.166 others(18): Show c.1662+1038_1663-689del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SVEP1_chr9_110360248_110584741	110434549	GTGGTAGC others(501): Show GTGGTAGCATCACCAAGTCAATGATTTCAAACTGTATTCTGTATCAGCAT TTGAGAGCCACCTTACTGATGTGAAAACAAGTTAACATGTAACCAGATCA CTGGCAAGCAAAATCACTAAAAAAAAAAAAAAAAAAAAGCATTTAAGTCA ATAACTCTCCCTCTTTCAAAATATTTTAGGAATGTCAATGAAATGTTCTT GTAAGTTATCAAAAGCCATAAATTCTAGGACAGTCTAAGAAACTCATTTA AATAAATTTGATTTTATGATACAGTTTTGATCATTCAGTTTTAGTGTGCA GATTGCAACATCCATCGCTTTTCTCCCTGTGCTACCTGTTCCTAGATACC TTCTACAAATTATAGAACCAAAAGAGTACCCCATCTCAAACAGGTGCATA GTATGTCGGTGGGCCTTGAAAAAAATAACCTCATTTCTTCTCTAATTTTC CTGATATTATTTTACTTTCATCCAAATTTCCTAATTATATTTTGTTATAC AGAATATAT	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0003 a0022c0018t0003	a0022c0018t0003g0153 a0022c0018t0003g0153	1	362	0.0028	-508	c.488 others(16): Show c.4888+184_4889-44del	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
THBS3_chr1_155190588_155212897	155190651	GCGGGCGC others(501): Show GCGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCCGGGGTCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGG GGCCGGCCTGGTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTC CGGGGTTGGAAAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGG GGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGT GGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG CGGGCGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	298	0.0034	-508	c.46 others(11): Show c.4682_*5189del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4936		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190711	GGGGGGGC others(501): Show GGGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG TCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTG GTGTCTGGGGGGGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGA AAACTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGC CGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGG TGTCCGGGGCCGAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGT GGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTG GGGGGGCGGTGGAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG03098.hp2 NA19030.hp1 HG02895.hp2 HG03098.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0005 a0001c0001t0001g0017	3	298	0.0101	-508	c.46 others(11): Show c.4622_*5129del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4876		chr1	TogoVar
THBS3_chr1_155190588_155212897	155190772	GGGGGGCG others(501): Show GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGTCGAGGTGACA CCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCTGGGGG GGCGGTGGAGCCGGGGCCGGCCTGGTGTCCGGGGTTGGAAAACTGGGCTG GGGGGGCGGTGGAGCCCGGGGCCGGCAGGGGTCCGGGGCCGAGGTGACAC CGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCC GAGGTGACACCGTGGGCTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGT GTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGG CGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTG GAGCCCGGGGCGGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACAC CGTGGGCTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02647.hp1 HG01109.hp1 HG02486.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0005 a0001c0003t0001g0021 a0001c0001t0001g0005 a0001c0003t0001g0021	3	298	0.0101	-508	c.45 others(11): Show c.4561_*5068del	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4815		chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291236	GCCCTCCG others(501): Show GCCCTCCGTGTCCCCCATGTCCCTCCGTGTCCCCCATGTCCCTCCGTGTC CCTGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGT CCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTG TCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGT CCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGG GGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCA TGTCCCTCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCC CTACCTGTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCC TCCGTGTCCCCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCT GTACGGGAGAGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTG TCCCCGTGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 HG02886.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0176 a0002c0003t0002g0088 a0001c0001t0002g0176 a0002c0003t0002g0088	2	284	0.0070	-508	c.121 others(18): Show c.1214+755_1214+1262del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
CDK13_chr7_39945256_40104580	40048595	AAAGAATT others(500): Show AAAGAATTTTAAAATTATTTTATGACAATTTTGTCATTTCTTTAATATCA CCATAATTTAATATAATGAAACATCAGTTGATTGCAGTCTTAGGAATAGA TGTTTACTTTCATTTAATCTTTGCTTTTTTTGGTTAAAGCAATAAACAAA AACTCTCGTTTGAATTTTTCAGAGTAAAAAGTCTTATTTTGTTAAATCTT GCAGCGCCTGTGACATAATTCTGGAAAGTATTTTCCTTATATAGTGTTCT AGAGTAGAGGTTTATAAGTGATATGTTTTGGATCTATTCAAGTTCCATGA AACCCCTCAGAAAGTGTGCAGTGGGCCAGGCGCAGTGGCTCATGCTTGTA CAAATCCCAGCACTTTGGGAGGCAGAGGCAGGCGGATCACTTGAGGGTCA GCACTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAA AATAGCTGGGCTTGGTGGTGCACGCCTATAATCCCAGCTACTTGGGAGGC TGAGGCAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02922.hp1 HG02970.hp1 others(3): Show HG02622.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0248 a0001c0004t0004g0249 a0001c0004t0004g0250 others(3): Show a0001c0004t0004g0248 a0001c0004t0004g0249 a0001c0004t0004g0250 a0001c0004t0004g0251 a0001c0004t0004g0257 a0001c0004t0004g0258	6	322	0.0186	-507	c.260 others(18): Show c.2600+725_2600+1231del	CDK13	ENSG00000065883.18	transcript	ENST00000181839.10	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRCH3_chr3_197786254_197893436	197824304	CCACCCGC others(500): Show CCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCA CGCCCGGCTTTTTTTTTTTTTTTCCCCTGGAGGTAATAGTTTCTTATCTT TTTATATGCTTATTTTTATGTGTGTCTATGGCTAATTCCACCCTCTTTTT CCAGCAGGCTTTCTGGTCAGACCAGATTCTCTATCCCTTTTTTCCCTGCA CTTCCACCTCACTGAGCCCTTTTTTTCTCTTCTGATGTGGACTGGCTGTT CTCTAGTATTGCTGCCCAGCTTTTTTTTTTTTTGAGACAGTCTCACTCTG TCACCCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACGGTAACCTCTG CCCCCCCGTCCCGGGTTCAAGTGATTCTCTGCCTCAGCCTCCCAAGTAGC TGGGATTATAGGAGCCCGCCACCACGCCTGGCTAACTTTTGTATTTTTAG TAGAGATGGGGTTTTACCATCTTGGCCAGGCTGGTCTTGAACTTCTGACC TCGTGATT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp1 HG02273.hp1 others(14): Show HG00558.hp2 HG01978.hp1 HG02273.hp1 HG02572.hp2 HG02602.hp1 HG02970.hp2 HG03688.hp2 HG03704.hp2 NA18612.hp1 NA18943.hp2 NA18953.hp2 NA18964.hp1 NA18966.hp2 NA18984.hp2 NA18988.hp1 NA19009.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0014 a0001c0001t0033 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0071 a0001c0004t0003 a0001c0004t0061 a0001c0007t0001 a0002c0003t0055	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0010g0012 others(14): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0010g0012 a0001c0001t0010g0015 a0001c0001t0014g0013 a0001c0001t0033g0019 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0014 a0001c0002t0004g0003 a0001c0002t0005g0016 a0001c0002t0010g0017 a0001c0002t0071g0011 a0001c0004t0003g0008 a0001c0004t0061g0004 a0001c0007t0001g0005 a0002c0003t0055g0009	17	292	0.0582	-507	c.641 others(17): Show c.641-2526_641-2020del	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 4625 hits)