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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CMIP_chr16_81439808_81716762	81704325	T T	TCTCCTCC others(414): Show TCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCC TGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCT CACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCTCCCCCTCCCC TACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCA CCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCACTCACCCTCCTCCC TGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCT CACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCTCCCCCTCCCC TACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCTCA CCCTCCTCTCTTTCCCCTCACC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	268	0.0037	421	c.209 others(438): Show c.2091+250_2091+251insTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTC CCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCC TCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTGCCCACTC ACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTC CCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCC TCCCCCTCCCCTACCCACTTACCCTCCTCCCTGCCCCCTCACCCTCCTCC CTGCCCCCTCACCCTCCTCTCTTTCCCCTCACCCTCCTCCCTG	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586394	C C	CAGGGGGA others(414): Show CAGGGGGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGC AGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGG AGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGA GGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGGAG GGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGG GGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGG GAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGAAGGGGAGGGGAGGGG AGGGGAAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	308	0.0033	421	c.637 others(436): Show c.637+150_637+151insTCCCCTCCCCTCCCCTTCCCCTCCCCTCCC CTCCCCTTCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCC TTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCC TCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTC CAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCC CCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCC CCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCTCCC CTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCC CTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(414): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGAGAGGGGAAGG GGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	308	0.0033	421	c.637 others(436): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCTCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCC CTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCC TCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(414): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAGGGGAAGG GGAGGAGGGGGAGGGGAGGGCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00609.hp1 others(24): Show HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG02027.hp2 HG02083.hp1 HG02155.hp1 HG03017.hp2 NA18944.hp1 NA18950.hp2 NA18953.hp2 NA18961.hp2 NA18971.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp1 NA19060.hp1 NA19079.hp2 NA20752.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0008c0015 a0001c0001 a0001c0002 a0008c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0008c0015t0001	a0001c0001t0001g0227 a0001c0002t0001g0002 a0001c0002t0001g0003 others(24): Show a0001c0001t0001g0227 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0065 a0001c0002t0001g0069 a0001c0002t0001g0072 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0098 a0001c0002t0001g0135 a0001c0002t0003g0070 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0092 a0001c0002t0003g0093 a0001c0002t0003g0096 a0008c0015t0001g0063	27	308	0.0877	421	c.637 others(436): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCC CCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCC CCTTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCC CTTCCCCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCC TCCCCTCCAGTCCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCC TCCAGTCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT GCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(414): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTG GTGGTGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACAT CATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0106 a0001c0001t0019g0106	1	320	0.0031	421	c.-52 others(438): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGT TTATAACTGGTGGTGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACA ACATCACATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89597951	T T	TCCACCCA others(414): Show TCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATC CCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCA CCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCATC CACCCATCCCCCCACCCACCCATCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCCACCCACCCATCTGTCCACCCATCCCCCCACCCAC CCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCC ACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCC CCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCC ATCTGTCCACCCATTCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	348	0.0029	421	c.13 others(432): Show c.1330_*1331insCCACCCATCCCCCCGCCCACCCATCTGTCCACCC ATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGC CCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCC GTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCCC CCACCCACCCATCCATCCACCCATCCCCCCCACCCACCCATCTGTCCACC CATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCA TCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCA TCCGTCCACTCACCCATCTGTCCACCCATTCCCCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		706		chr16	TogoVar
CTU2_chr16_88701503_88720396	88713256	G G	GCCCCCCT others(414): Show GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCA CTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCC CCCTTCCCCAGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0128 a0002c0003t0001g0128	1	418	0.0024	421	c.738 others(434): Show c.738-41_738-40insCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAG CCCCCTTCCCCAGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCGAGAGCCCCCCCTTCCCCGGG	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	367	0.0027	421	c.-42 others(432): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTT GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	367	0.0027	421	c.-42 others(432): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(414): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	367	0.0027	421	c.-42 others(432): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTG AGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGG TGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(414): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	367	0.0027	421	c.-42 others(432): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(414): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAATTAAAAAAAAAAATAAA AATAAAAATAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG01106.hp2 others(15): Show HG00438.hp2 HG00642.hp1 HG01106.hp2 HG01109.hp1 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp2 HG02698.hp2 HG04204.hp2 NA18981.hp2 NA18988.hp2 NA19085.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0023 a0001c0003 a0008c0023	a0001c0003t0010 a0001c0003t0038 a0001c0003t0043 others(8): Show a0001c0003t0010 a0001c0003t0038 a0001c0003t0043 a0001c0003t0044 a0001c0003t0046 a0001c0003t0109 a0001c0003t0110 a0001c0003t0114 a0001c0003t0115 a0001c0003t0123 a0008c0023t0112	a0001c0003t0010g0017 a0001c0003t0010g0197 a0001c0003t0010g0198 others(15): Show a0001c0003t0010g0017 a0001c0003t0010g0197 a0001c0003t0010g0198 a0001c0003t0010g0200 a0001c0003t0010g0279 a0001c0003t0038g0133 a0001c0003t0043g0056 a0001c0003t0043g0204 a0001c0003t0044g0177 a0001c0003t0044g0182 a0001c0003t0046g0077 a0001c0003t0046g0146 a0001c0003t0109g0080 a0001c0003t0110g0135 a0001c0003t0114g0202 a0001c0003t0115g0201 a0001c0003t0123g0238 a0008c0023t0112g0147	18	316	0.0570	421	c.216 others(440): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACAC GTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAATTAAAAAAAAAAATAAAAATAAAAATAAAATAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DGKH_chr13_42043648_42247896	42197252	C C	CAACAACA others(414): Show CAACAACAAAAAAAAATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGGAGGGATAGCA TTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACC AGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGT ACCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAAAAATAAA AATAAAAATAAAATAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0113 a0001c0003t0113	a0001c0003t0113g0029 a0001c0003t0113g0029	1	316	0.0032	421	c.216 others(440): Show c.2168-1224_2168-1223insCAACAAAAAAAAATACACCATGGAAT ACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGG ATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAAC CAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCAC ATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGG GGGAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACA CGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTA ACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA AAAATTAAAAAAAAAAATAAAAATAAAAATAAAATAAAAAAAAAA	DGKH	ENSG00000102780.17	transcript	ENST00000337343.9	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
DLGAP2_chr8_732628_1713476	1508511	T T	TGCAAACC others(414): Show TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCCACCCCTCA CCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCCTGC AAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCACCAC CCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCC TCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCCCC TGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTCAC CACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCAC CCCTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCAC CCCCCACCCCTCACCACCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	40	0.0250	421	c.172 others(438): Show c.172+7096_172+7097insCCCTGCAAACGCCCACCACCCCCCCACC CCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCACCC CCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCCCTC ACCACCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCC ACCCCTCACCACCCCCTGCAAACCCCCACCCCCCCCACAAACCCCCGCCA CCCCCTGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCCCCCACCC CTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCCACCACCC CCCACCCCTCACCACCCCCCGCAAACCCCCGCCACCCCCTGCAAACGCCC ACCACCCCCCACCCCTCACCACCCCCCGCAAACCCCCGCCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123908064	G G	GCTGTCTC others(414): Show GCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCC CTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGT CTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTC TCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCT CCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCT GTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCTCCCTG TCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGT CTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCTCCCTGTCTCCTCCCTGTC TCCCTGTCTCCTCCCTGTCTCT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0035 a0035	a0035c0055 a0035c0055	a0035c0055t0002 a0035c0055t0002	a0035c0055t0002g0069 a0035c0055t0002g0069	1	170	0.0059	421	c.981 others(440): Show c.9816-1179_9816-1178insCCTGTCTCCTCCCTGTCTCTCTGTCT CCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTC TCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCC CTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGT CTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTC TCTCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCT CCCTGTCTCCTCCCTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTC CCTGTCTCTCTGTCTCCTCCCTGTCTCTCTGTCCCCTCCCTGTCTCCTCC CTGTCTCCCTGTCTCCTCCCTGTCTCTCTGTCTCCTCCCTGTCTC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	57/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619210	C C	CCCTGCCC others(414): Show CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	250	0.0040	421	c.-10 others(440): Show c.-107+5493_-107+5494insTGCCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(414): Show ATATATACTATATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATACTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATAGTATATATATATAGTATATATATAGTATATATATAGTATAT ATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTATAT ATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATAT AGTATATATGTATATATATATAGTATATATATAGTATATATATATAGTAT ATATATAGTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0170 a0001c0010t0001g0170	1	316	0.0032	421	c.355 others(440): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGT ATATATATACTATATATATAGTATATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA TATAGTGTATATATATAGTATATATATATAGTGTATATATATAGTATATA TATAGTATATATATAGTATATATAGTATATATGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(414): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATTTATATAAATACATTATATTTTATATATTTATATAAA TACATTATATTTTATATATTTATATAAATACATTATATTTTATATAATAT ATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	290	0.0035	421	c.-53 others(440): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATGTATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(414): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATTTATATAAATACATTATATTTTATATATTTATATAAA TACATTATATTTTATATATTTATATAAATATATTATATTTTATATAATAT ATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01109.hp1 HG01257.hp1 others(7): Show HG00621.hp2 HG01109.hp1 HG01257.hp1 HG01358.hp1 HG02056.hp2 HG03490.hp2 NA18955.hp2 NA19074.hp1 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0113 a0001c0001t0002g0175 a0001c0001t0002g0176 others(7): Show a0001c0001t0002g0113 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0198 a0001c0001t0002g0205 a0001c0001t0002g0212 a0001c0001t0002g0235 a0001c0001t0002g0248 a0001c0001t0021g0234	10	290	0.0345	421	c.-53 others(440): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTACAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp1 others(7): Show HG01123.hp2 HG01167.hp1 HG01169.hp1 HG02055.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	10	314	0.0319	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTGTAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAATAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0003g0010 a0001c0001t0003g0013 a0001c0001t0005g0014 a0002c0002t0001g0022	230	314	0.7325	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAATAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATGTGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	314	0.0032	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACACATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAATAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(414): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTTTTATAATATATAATATATTATATATT ATATTATATATAATAATATATTATATATTATATTATATATAATAATATAT AATATGTTATATTATATATTATATTATATATAATAATATGTAATATATAA TTATATTATATACTATTATAATAATTATAATAATATTAATATTATATTAT AATTATAATAGACACATATAATAATAATTATAATAATTAGCAGATTATTT TATAATAATATTATATAATATGTATTAATAACATATAATATAATATACAA TCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG03831.hp1 HG02683.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	314	0.0064	421	c.40 others(432): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATAATATATAATATAACATATTATATATTATTAT ATATAATATAATATATAATATATTATTATATATAATATAATATATAATAT ATTATATATTATAAAAATATATATGTTATGTAATATATAATATATTATAT ATAATAATATATAATATAATATATAATATATTAAGATTATATATGATATG TAATATATATAATTATATATCATATATAATTATATAT	ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding		3934		chrX	TogoVar
EXD3_chr9_137301896_137428162	137355570	T T	TGGAGGAA others(414): Show TGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAA GGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGAAAGGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGAGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAAG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	82	0.0122	421	c.757 others(436): Show c.757+697_757+698insCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCTCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCC CTTTCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCA TCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FMN2_chr1_240086883_240480187	240185119	C C	CCCCTTCT others(414): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0066 a0066	a0066c0107 a0066c0107	a0066c0107t0001 a0066c0107t0001	a0066c0107t0001g0134 a0066c0107t0001g0134	1	174	0.0058	421	c.193 others(440): Show c.1931-3085_1931-3084insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(414): Show TAAAACTACTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTCA ACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGGC AAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAAA ATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAAA AACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAAA AAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGGT GTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAGG GGGTAGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCTT GAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG01257.hp2 others(11): Show HG00099.hp1 HG01175.hp1 HG01257.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG02735.hp1 HG03130.hp2 HG03239.hp1 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 NA19004.hp2	a0003 a0004 a0010 a0003 a0004 a0010	a0003c0003 a0004c0004 a0010c0009 a0003c0003 a0004c0004 a0010c0009	a0003c0003t0001 a0004c0004t0002 a0004c0004t0004 others(3): Show a0003c0003t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0008 a0004c0004t0013 a0010c0009t0001	a0003c0003t0001g0136 a0004c0004t0002g0145 a0004c0004t0004g0016 others(11): Show a0003c0003t0001g0136 a0004c0004t0002g0145 a0004c0004t0004g0016 a0004c0004t0004g0092 a0004c0004t0004g0093 a0004c0004t0004g0094 a0004c0004t0004g0103 a0004c0004t0004g0119 a0004c0004t0004g0137 a0004c0004t0004g0139 a0004c0004t0004g0140 a0004c0004t0008g0087 a0004c0004t0013g0106 a0010c0009t0001g0105	14	254	0.0551	421	c.118 others(442): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCTACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
FSIP1_chr15_39595031_39787841	39702423	T T	TAAAACTA others(414): Show TAAAACTACTTTTTTTTTTTTTTTTCTATCAAATGTGGTTTTTTTATTCA ACAACTGACAAGCACTTTTCTACAGCTGCACTTGTGGAACATCACATGGC AAAAACAGGAGTTTTTTCGCTAGACTTTTTTCTTTTTAACCTTATTAAAA ATGAGATTGGTCCTAAAAATATAGAAAGAAATAAATTTAAATTCACAAAA AACTGTACATTATCAAAAAGTCACTAAAACACCACATTTGGTTATATAAA AAGTCCCTTTTGCTGTAAAAGGAACACAGAAACTTGTTGGTGTTGATGGT GTGGTTTCTTCCTGTCAACCAGACTGATGGGAGGGAAGCAAAAGGGCAGG GGGTGGGTTGTCTTTTTATTTTAAACCTGCTTTCCCTACCAAATACTCTT GAGCTAGGTGGATTTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01255.hp1 HG01978.hp1 others(13): Show HG01243.hp2 HG01255.hp1 HG01978.hp1 HG02145.hp2 HG02630.hp2 HG02717.hp1 HG02897.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0003c0003 a0006c0006 others(2): Show a0001c0001 a0003c0003 a0006c0006 a0007c0007 a0008c0012	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(6): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0006c0006t0003 a0006c0006t0010 a0007c0007t0001 a0007c0007t0003 a0008c0012t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(13): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0193 a0003c0003t0001g0194 a0003c0003t0002g0142 a0003c0003t0002g0200 a0003c0003t0003g0198 a0003c0003t0003g0199 a0006c0006t0003g0249 a0006c0006t0003g0250 a0006c0006t0010g0251 a0006c0006t0010g0252 a0007c0007t0001g0248 a0007c0007t0003g0185 a0008c0012t0001g0184	16	254	0.0630	421	c.118 others(442): Show c.1188+11020_1188+11021insGAAGAGAAAATCCACCTAGCTCAA GAGTATTTGGTAGGGAAAGCAGGTTTAAAATAAAAAGACAACCCACCCCC TGCCCTTTTGCTTCCCTCCCATCAGTCTGGTTGACAGGAAGAAACCACAC CATCAACACCAACAAGTTTCTGTGTTCCTTTTACAGCAAAAGGGACTTTT TATATAACCAAATGTGGTGTTTTAGTGACTTTTTGATAATGTACAGTTTT TTGTGAATTTAAATTTATTTCTTTCTATATTTTTAGGACCAATCTCATTT TTAATAAGGTTAAAAAGAAAAAAGTCTAGCGAAAAAACTCCTGTTTTTGC CATGTGATGTTCCACAAGTGCAGCTGTAGAAAAGTGCTTGTCAGTTGTTG AATAAAAAAACCACATTTGATAGAAAAAAAAAAAAAAAAGTAGTTTT	FSIP1	ENSG00000150667.8	transcript	ENST00000350221.4	protein_coding	10/11			chr15	TogoVar
GALNT17_chr7_71127144_71718599	71680628	T T	TCCCTCCC others(414): Show TCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCC TCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCC TCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCTCTTCCTCCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0020 a0001c0007t0020	a0001c0007t0020g0005 a0001c0007t0020g0005	1	76	0.0132	421	c.150 others(440): Show c.1500+3322_1500+3323insCCCTCCCTCCCTGTCTTCCTCCCTCC CTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCC CTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCTCTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GPM6A_chr4_175627937_175817264	175637151	A A	ATATGTCA others(414): Show ATATGTCACATATAATATATGATATATGTCACATATATGATATATATTAT ATAAAAATATATAATATATTTTTATATAATATATAATATATTGTATATTT TTATATATATAAAAATATAAAGGTTTTATATATATATAAAGGTCATATAT ATATGAGGTTACTGGGAGTCCTTCTAAGGCTCTCCATATATTTTTATATA TATAATTATACATTTTTATATATATACTATATTATATTATTATATATTAT ATAATATATTATATGTTATATATTATATATTTTTATATAATATATAATAT ATAATATATATTTTATATTATATATAATATATAATATATATTTTATATAA TATATAATATATAATATATATTATATATTATATATAATATATAATATATA TTTTATATTATATATGATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	270	0.0037	421	c.685 others(438): Show c.685-2095_685-2094insATATATCATATATAATATAAAATATATA TTATATATTATATATAATATATAATATATATTATATATTATATATTATAT AAAATATATATTATATATTATATATAATATAAAATATATATTATATATTA TATATTATATAAAAATATATAATATATAACATATAATATATTATATAATA TATAATAATATAATATAGTATATATATAAAAATGTATAATTATATATATA AAAATATATGGAGAGCCTTAGAAGGACTCCCAGTAACCTCATATATATAT GACCTTTATATATATATAAAACCTTTATATTTTTATATATATAAAAATAT ACAATATATTATATATTATATAAAAATATATTATATATTTTTATATAATA TATATCATATATGTGACATATATCATATATTATATGTGACATA	GPM6A	ENSG00000150625.17	transcript	ENST00000393658.7	protein_coding	6/6			chr4	TogoVar
GSE1_chr16_85608322_85681200	85653223	T T	TCCCCCCT others(414): Show TCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCT CCTCCCCCCCTCCCCCCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCC CTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCC CTCCTCCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCC TCCCCCCCTCCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCCC CCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCC CCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCCCCCC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	290	0.0035	421	c.427 others(438): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCCCCCTCCTCC CCCCCCTCCCCCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTC CTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCCTCCC CCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCC CTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(414): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATAATATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0212 a0001c0001t0061g0212	1	260	0.0039	421	c.963 others(440): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(414): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATAATATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	260	0.0039	421	c.963 others(440): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATAATATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209560	A A	ATATATAT others(414): Show ATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATAT AAAATATATAAAATAGATATTATATATAAAATATATATAATATATATATA AAATAGATATTATATATAAAATATATATTATATATTATATAAAATATATA TTATATATTATATAATATATAATATATATTATATATATTATATATTATAT ATTAAATATATATTATATATATAAAATATATATAAAATATATATTATATA AAATATATATAAAATATATATTATATAAAATATATATAAAATATATATTA TATAAAATATATATTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAAAATAT ATACTATATATAAAATATATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA18946.hp2 HG01123.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0115 a0001c0001t0015g0023 a0001c0001t0002g0115 a0001c0001t0015g0023	2	260	0.0077	421	c.963 others(440): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAAAATATATATTATATATAAAATATATACTATA TATAAAATATATACTATATATAAAATATATACTATATATAAAATATATAC TATATATAAAATATATACTATATATAAAATATATACTATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(414): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACACACCAGCA CCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCTC ATCCACCCACACACCAGCACCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG02970.hp1 HG03209.hp2 HG03225.hp2 NA18522.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0016 a0001c0001 a0018c0016	a0001c0001t0001 a0018c0016t0001 a0001c0001t0001 a0018c0016t0001	a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 others(1): Show a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0018c0016t0001g0131	4	380	0.0105	421	c.507 others(438): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGA TGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGAT GGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	316	0.0032	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGAGGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	316	0.0032	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA19012.hp2 NA18979.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	316	0.0063	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCC CTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTC TTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTT CCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	316	0.0032	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGAGGAGGGGGAGGGG AAGGGGGAGAGGAGGAGAGGAAGAGGAGAAGAGGCAGTGGGAAGATGAAG AGGAAGAGGAAGAAGGAGGAGGAGGAAAGAAGATGAATAAGAGGAGGAGG AGAAAAGGAGAGAGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	316	0.0032	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCCCCTCCTCTCTCTCCTTTTCTCCTCCTCC TCTTATTCATCTTCTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCT TCCCACTGCCTCTTCTCCTCTTCCTCTCCTCCTCTCCCCCTTCCCCTCCC CCTCCTCCTCTCCTTCCCCTCCTCCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	316	0.0032	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC TCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCT TATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTC CACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCCCTCCCC CTCCTCCCTCTCCTTCCCCTCCTCCCCCCCTCCTTCTTCCTCTTCCTCTT CCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCC CCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(414): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGGAGGGGGAGG GGGAGAGGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGAT GAAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGA GGAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAG GAGGGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGAGGAGGAAGAGGAGGA GGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0071 a0002c0003t0007g0071	1	316	0.0032	421	c.583 others(436): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCCTC CTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTCCTCTTA TTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCATCTTCCA CTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCCTCTCCCCCTCCCCC TCCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCTCTTC CACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGACCCC CTCCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCCCCTT CCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(414): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0146 a0002c0003t0001g0146	1	186	0.0054	421	c.956 others(438): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATC ACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCAC CATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(414): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0153 a0015c0020t0001g0153	1	186	0.0054	421	c.956 others(438): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATC ACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCAC CATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(414): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGATGGTGATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTG ATGGTGGGGGTGATGATGGTGGGGGTGGGGGTGATGATGGTGAGGGTGAT GATGGTGGGGGTAATGACGGTG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0001 a0014c0019t0001	a0014c0019t0001g0152 a0014c0019t0001g0152	1	186	0.0054	421	c.956 others(438): Show c.956+1962_956+1963insCACCGTCATTACCCCCACCATCATCACC CTCACCATCATCACCCCCACCCCCACCATCATCACCCCCACCATCACCAT CATCACCCCCACCCCCACCATCATCACCCCCACCATCACCATCATCACCC CCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCATCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCC ACCCCCATCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATC ACCCCCACCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCAC CATCATCACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LMF1_chr16_848634_975984	857751	G G	GAGTGGTG others(414): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCA CGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGC AGTGGTGTCTCGGGATGGGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA20300.hp1 HG03927.hp1 NA20300.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0003 a0004c0029t0003	a0004c0029t0003g0193 a0004c0029t0003g0203 a0004c0029t0003g0193 a0004c0029t0003g0203	2	294	0.0068	421	c.153 others(440): Show c.1530-3046_1530-3045insACACCCATCCCGAGACACCACTGCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCC CGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCGAG ACACCACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGTGAC ACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACAC CACTGCACACCCATCCCGTGACACCACTGCACACCCATCCCGTGACACCA CTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	414	0.0024	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(414): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	421	c.-43 others(432): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGT GGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LYPD8_chr1_248734415_248760759	248742675	G G	GAGATTAC others(414): Show GAGATTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGG TGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAG CGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCCGGGTAGATTACGC TCTGGTGGGGATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTT GGCAGCCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGA TTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGG GATGTTGGCAGCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGG GGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGGTTACGCTCTG GTGGGGATGTTGGCAGCCGGGT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	374	0.0027	421	c.475 others(438): Show c.475+2466_475+2467insACCCGGCTGCCAACATCCCCACCAGAGC GTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCT GCCAACATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACC AGAGCGTAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCC CCGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGGCTGCCAACATC CCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAA TCTACCCGGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAG CATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAATCT	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar

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