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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Select column to sort.

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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
CDH4_chr20_61247261_61945617	61716380	G G	GCTGGACC others(728): Show GCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGG CTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGC TGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCT GGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTG GACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGG ACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGA CCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGAC CTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACC TGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCT GTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTG TAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGT AAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTA AAGGGGTGGACGCTCCTCGCCTGTGAGCCTCCTCTTGGCTGGACCTGTAA AGGGGTGGACGCTCCTCACCTGTGACCCGCCCCTTGGCTGGAGCTGTAAA GGGGTGGACGCTCCTCACCTGTGACCCGCCCCTTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0008 a0001c0021t0008	a0001c0021t0008g0047 a0001c0021t0008g0047	1	106	0.0094	735	c.170 others(754): Show c.170-27178_170-27177insCCTGTAAAGGGGTGGACGCTCCTCGC CTGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCC TGTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCT GTGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTG TGAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGT GAGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTG AGCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGA GCCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAG CCTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGC CTCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCC TCCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCT CCTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTC CTCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCGCCTGTGAGCCTCC TCTTGGCTGGACCTGTAAAGGGGTGGACGCTCCTCACCTGTGACCCGCCC CTTGGCTGGAGCTGTAAAGGGGTGGACGCTCCTCACCTGTGACCCGCCCC TTGACTGGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(728): Show AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01169.hp2 HG00099.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0138 a0001c0003t0002g0142 a0001c0003t0002g0138 a0001c0003t0002g0142	2	258	0.0078	735	c.403 others(750): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(728): Show AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGA AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18974.hp2 NA18980.hp1 others(2): Show NA18942.hp1 NA18974.hp2 NA18980.hp1 NA19004.hp2 NA19057.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0134 a0001c0003t0002g0141 a0001c0003t0002g0004 a0001c0003t0002g0134 a0001c0003t0002g0141	5	258	0.0194	735	c.403 others(750): Show c.403-623_403-622insCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTT TCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(728): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGCGGGGAGGTGGTCATACTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACACTGTGAGGG GAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTGACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02080.hp1 NA18962.hp2 HG02071.hp1 HG02080.hp1 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0179 a0002c0002t0001g0110 a0002c0002t0001g0115 a0002c0002t0001g0179	3	236	0.0127	735	c.351 others(754): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACAGTGTGCG GGGAGGTGGTCATACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGG AGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGA GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTGACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(728): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGG GGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG GAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAG GAGGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGA GCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCT GGGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGA GGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGA GGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	168	0.0060	735	c.-26 others(744): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCC TCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCCC AGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGC TCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCTC CTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTC CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCCTCCCCTGCTCCCCTCCTCCCC CCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(728): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGGAGGAGGGGAGCAGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCGGGGGAGGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTG GGGAGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGG GAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGGAGGGGGAGGAGGG GGAGCAGGGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	168	0.0060	735	c.-26 others(744): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCCCTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTC CTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCTCCC CAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCT CCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCAGCTCCCCCT CCTCCCCCCTCCCCCGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCT CCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCTGCTCCCCTCCTCCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(728): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCA GGGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAC TGCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAA GTAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCA CTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCT CTCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGT GGCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03490.hp2 HG01433.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0083 a0001c0001t0024g0302 a0001c0001t0001g0083 a0001c0001t0024g0302	2	324	0.0062	735	c.827 others(750): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(728): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAT TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCA GGGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAC TGCAAGCTCTGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAA GTAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCA CTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCT CTCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGT GGCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01981.hp1 HG01106.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0001g0280 a0001c0001t0001g0293	2	324	0.0062	735	c.827 others(750): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCAGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAATGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(728): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAG GGGAGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTTGAGACAGA GTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCAC TGCAAGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAA GTAGTTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCA CTCGTGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCT CTCCAGGTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGT GGCTCACGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0077 a0001c0004t0004g0077	1	324	0.0031	735	c.827 others(750): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATC TCTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGAT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(728): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCATATCCGCACAGCGGCCACATTTAC CATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGGATGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGATGGCGTATCCGCACAGCGG CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCATATCCGCACAGCGGCCACATTTACCATGGATGGCGTATC CGCACAGCAGCCACATTCACCATGGGGGGCGTATCCGCACAGCACACACA TTCACCATGGAGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCAGCCACATTCACCATGGATGGCGTATCTGCACAGCAG CCACATTCACCATGGGGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	238	0.0042	735	c.635 others(752): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGTGCGGATACGC CATCCATGGTAAATGTGGCCGCTGTGCGGATATGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
DIP2C_chr10_269201_694668	321734	C C	CCGGCGAG others(728): Show CCGGCGAGAGACCAGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTCC GGTGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCG GCGAGAGACTGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGG CGAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGT GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCG AGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGA GAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAG AGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGA GACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAG ACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGA CCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGAC TGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACC AGTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGCGAGAGACCA GTGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0055 a0001c0002t0002g0055	1	88	0.0114	735	c.392 others(754): Show c.3924+5271_3924+5272insCACCCCCGCACCCCCGACTGACTGTT CTAACAACACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTC TAACAACACTGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCT AACAGCGCCAGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTA ACAGCGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAA CAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAAC AACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACA ACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAG CGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGC GCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCG CCGGTCTCTCACCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAACGC CGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCC AGTCTCTCGCCGGAGCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCG GTCTCTCACCGGACCCCCGCACCCCCGACTGACTGTTCTAACAGCGCCGG TCTCTCGCCGCACCCCCGCACCCCCGACTGACTGTTCTAACAACACTGGT CTCTCGCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(728): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGG AGGGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGAGGAGGA GGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0008 a0008	a0008c0054 a0008c0054	a0008c0054t0001 a0008c0054t0001	a0008c0054t0001g0192 a0008c0054t0001g0192	1	252	0.0040	735	c.118 others(754): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCC TCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC CTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCC CCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCCTCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCT CCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCT CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(728): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCAT CACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCA CCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTC ACCATCACCATCACCACCACCTCCACCTCCACCACCACCACCTCCACCAC CACCACCACCTCCACCACCACCGTCACCACCTTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0050 a0050	a0050c0149 a0050c0149	a0050c0149t0010 a0050c0149t0010	a0050c0149t0010g0071 a0050c0149t0010g0071	1	256	0.0039	735	c.323 others(754): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACC ACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACCATCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCTCCAC CACCACCACCTCCACCACCACCACCACCTCCACCACCACCGTCACCACCT TCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(728): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCG ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTC TCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTG CCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCC TCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACC CCACCCTCCTCCGAATCCTCAGGGAACCTGCCCACCCTCCACCCCGACCC TCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCG CATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTC AGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAA CCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCC ACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	374	0.0027	735	c.14 others(746): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TGCGGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAG GAGGGTCGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATTCGGAGGAGGGT GGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTG GAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTG GGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGA GGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCG GAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGG GTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGG TGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGA TGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(728): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAG GGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp2 others(23): Show HG00099.hp2 HG00323.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp1 HG02071.hp1 HG02273.hp1 HG03239.hp2 HG03492.hp1 HG03704.hp2 NA18747.hp1 NA18967.hp1 NA19003.hp1 NA19077.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0024 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0047 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0013t0001g0157	26	374	0.0695	735	c.13 others(746): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(728): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCATCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAG GGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	374	0.0027	735	c.13 others(746): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGATGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486901	A A	ACCCTGAC others(728): Show ACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGA CCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCAACCCTCCTC CGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCGACCCTCCTCTGCATC CTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCCGCATCCTCAGGG AACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGC CCACCCTCCACCCGACCCTCCTCTTCATCCTCAGGGAGCCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCC TCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCCTCCTCCGAAT CCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCCGAATCCTCAG GGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAAGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	374	0.0027	735	c.13 others(746): Show c.1396_*1397insGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAG GAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTG GGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGA GGATGGGCAGGTTCCTTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGGG CAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGTT CCCTGAGGATTCGGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGA GGATTCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCA GAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGG GTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGGGT GGAGGGTGGGCAGGCTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCGGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATG CGGAGGAGGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGA GGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG G	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1112		chr20	TogoVar
EML1_chr14_99788413_99947060	99927949	T T	TGGTGGTG others(728): Show TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG ATGGTGGCGGTGGTGGTGGGGGTGGGGGTGGGGGTGGTGGTGGTATTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0192 a0003c0002t0001g0192	1	288	0.0035	735	c.190 others(754): Show c.1909+7077_1909+7078insTGGAGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGCGGTGGTGGTGGGGGTGGGGGTGGG GGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGAGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGAGGTGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928123	A A	AGGTGGTG others(728): Show AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0078 a0001c0005t0009g0078	1	288	0.0035	735	c.190 others(754): Show c.1909+7268_1909+7269insATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTATTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(728): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	334	0.0030	735	c.-10 others(754): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(728): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACGGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	334	0.0030	735	c.-10 others(754): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACGGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(728): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATATGTATATACATATAT ATATATGTATATACATATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATACATATAAATATATATGTATATACAT ATAAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATTTATATACATATAAA TATATATTTATATACATATAAATATATATTTACATACATATAAATATATA TTTACATACATATAAATATATACATTTATATACATATAAATATATACATA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA TATTTATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	292	0.0034	735	c.51 others(746): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATAAA TATATATAAATATATATATTTATATGTATATAAATATATATTTATATGTA TATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATGTA AATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAATATACATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATATGTATATACATAT ATATATATGTATATACATATATATATGTATATACATATATATATATGTAT ATACATATATATATGTATATACATATATATTTATATGTATATACATATAT ATTTATATGTATATACATATATTTATATGTATATACATATATATTTATAT GTATATAAATATATATTTATATGCATATAAATATATATGTATATGCATAT A	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(728): Show ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATAAATATATATGTATGTATATTATATA CATATAAATATATATGTATATAATATATATGTATGTATATTATATACATA TAAATATATATATTTATATACATATAAATATATATTTATATACATATAAA TATATATATTTATATACATATAAATATATATTTACATACATATAAATATA TATTTACATACATATAAATATATATATTTATATACATATAATACATATAC ATATATACATATAAATATATATTTATATATATATAAATATATATATTTAT ATATATAAATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATTTATATATATATAAATATATATATATTTATAT ATATATACATATAAATATATATTTATATACATATAAATATATAATTATAT ACATATAAATATATATAATTATATACATATAAATATATATTTATATACAT ATAAATATATATATTTATATACATATAAATTTATATACATATAAATATAT ATATTTATATTTATATACATATAAATATATATATTTATATTTATATACAT ATAAATATACATATAAATATAAATATTTATATTTATATACATATAAATAT AAATATTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 NA18522.hp1 HG03130.hp2 NA18522.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0015 a0003c0003t0001g0190 a0002c0002t0001g0015 a0003c0003t0001g0190	2	292	0.0069	735	c.49 others(746): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATATAAATATTTATATTTATATGTATATTT ATATGTATATAAATATAAATATATATATTTATATGTATATAAATATAAAT ATATATATTTATATGTATATAAATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATAT GTATATAATTATATATTTATATGTATATAAATATATATTTATATGTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATATAAATATATATTTATATGTATAT ATGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATACATATATATTATATACATATATATTTATA TGTATATAATATACATACATATATATTTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC A	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FLT4_chr5_180596506_180654600	180635709	A A	AAGTATGG others(728): Show AAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTAT GGGTGGATGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTGGATGGG TGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATG CATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGA TGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATG GAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGGA AGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGATG GAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGA AGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATG GATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGA TGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATG GATGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGTAGGTGGA TGGATGCATGGATTGAAGTATGGGTGGATGGGTGGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	388	0.0026	735	c.59- others(750): Show c.59-3932_59-3931insCCCACCCATCCACCCATACTTCAATCCATG CATCCATCCACCTACCCACCCACCCATCCACCCATCCACCCATACTTCCA TCCATCCATGCATCCACCCACTCACCCACCCATCCACCCATCCACCCTTA CTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCATACT TCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACCCATCCACC CTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCA TACTTCCATCCATCTATGCATCCACCCACCCACCCATCCACTCATCCATC CATACTTCCATACATGCATCCATCCACCCATCCACCCACCCATCCACCCA TACTTCCATCCACCCACTCACCCACCCATCCACCCATACTTCCATGCATC CATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCA TCCATGCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATC CGTCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCATCCA CCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACC CACCCACCCATCCACCCATACTTCATCCATCCATCCGTCCACCCACCCAT CCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCC ATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635721	A A	AAGTATGG others(728): Show AAGTATGGGTGGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTAT GGGTGGATGGGTGGGTGGACGGATGGATGGATGAAGTATGGGTGGATGGG TGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTG GGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGG TGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATG CATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGA TGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGGGTGGATG GAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCATGTATGGA AGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAGATGGATG GAAGTATGGGTGGATGGGTGGATGGATGCATGGATGGAAGTAAGGGTGGA TGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATGGAAGTATG GGTGGATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTAAGGG TGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGCATGGATGGATGGAAG TATGGGTGGATGGGTGGATGGGTGGGTGGGTAGGTGGATGGATGCATGGA TTGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	388	0.0026	735	c.59- others(750): Show c.59-3944_59-3943insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCATCCACCCA TACTTCCATCCATCTATGCATCCACCCACCCACCCATCCACTCATCCATC CATACTTCCATACATGCATCCATCCACCCATCCACCCACCCATCCACCCA TACTTCCATCCACCCACTCACCCACCCATCCACCCATACTTCCATGCATC CATGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCA TCCATGCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATC CGTCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCATCCA CCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATGCATCCACC CACCCACCCATCCACCCATACTTCATCCATCCATCCGTCCACCCACCCAT CCACCCATACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCC ATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCTTCT others(728): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0089 a0089	a0089c0047 a0089c0047	a0089c0047t0001 a0089c0047t0001	a0089c0047t0001g0031 a0089c0047t0001g0031	1	174	0.0058	735	c.193 others(754): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(728): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCC TCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCT CTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCT CTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCC TCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGT CTCCCCCTCTCCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCT CCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCC TCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTC TCCCTCTCTCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCC CCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTC CCCTCTCTCCCACCCTCTGTCCCCCTCTCCGTCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00733.hp2 others(12): Show HG00280.hp1 HG00323.hp2 HG00733.hp2 HG01109.hp1 HG02132.hp2 HG02723.hp1 HG02818.hp2 HG03017.hp2 HG03490.hp2 HG03654.hp1 HG04204.hp2 HG04228.hp2 NA18983.hp1 NA19067.hp1 NA19240.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0017c0024	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0017c0024t0001	a0001c0001t0002g0048 a0001c0002t0001g0042 a0001c0002t0001g0160 others(11): Show a0001c0001t0002g0048 a0001c0002t0001g0042 a0001c0002t0001g0160 a0001c0002t0001g0177 a0001c0002t0002g0002 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0004t0001g0165 a0001c0004t0002g0030 a0001c0004t0002g0031 a0001c0004t0002g0069 a0001c0004t0002g0100 a0001c0004t0002g0148 a0017c0024t0001g0150	15	230	0.0652	735	c.126 others(752): Show c.1260+931_1260+932insGGAGACGGAGAGGGGGACAGAGGGTGGG AGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAGAG GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGG AGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAG AGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGG GAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAG AAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAG GAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAA GGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGG GGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAG GGGGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAG GGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGG GGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGG AAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144492	T T	TCCCCCCT others(728): Show TCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCC CCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCT CTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCTC TCCCTCCCTACCCTCTCTCCCCCCCTCTCCCTCCCTCCCCTCACCCCCCT CCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCC CTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTCTCCTTC CCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCCTTCC CGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTC CCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCC CCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCC CTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCC CCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCCTTTC CCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCCTCCCCCCT CTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCC CACTCTCTGTCCCCCTCTCCCTGTCTCCCCCCTTTC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0026 a0002c0005t0001g0026	1	230	0.0044	735	c.126 others(752): Show c.1260+924_1260+925insGAAAGGGGGGAGACAGGGAGAGGGGGAC AGAGAGTGGGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGG AGAGGGAGAGGGGGGAGGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGA GAGGGAGGGAAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGA GAAGGAGGGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAG GGGGAGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGA GAAGGAGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGG AGAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAG AGGGAGCGGGAAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGA GGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAG GGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGA GGGGAGGGAGGGGGGTGAGGGGAGGGAGGGAGAGGGGGGGAGAGAGGGTA GGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAG GGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAG GGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAG AGGGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(728): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATAATATATAATATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATGTAATATATACATTACATATAATGTATATTATATGTAATATATAC ATTACATATAATGTATATTATATGTAATATATACATTACATATAATGTAT ATTATATGTAATATATACATTACATAATGTATATTATATGTAATATATAC ATTACATAATGTATATTATATGTAATATATACATTACATAATGTATATTA TATGTAATATATACATTATATAATATATACATTGTATATAATGTATATTA TATATAATATATACATTGTATATAATGTATATTATATATAATATATACAT TGTATATAATGTATATTATATATAATATATACATTGTATATAATGTATAT TATATATAATATATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	350	0.0029	735	c.94- others(748): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATAATATATAATATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATGTAATATATACATTACATATAATGTATA TTATATGTAATATATACATTACATATAATGTATATTATATGTAATATATA CATTACATATAATGTATATTATATGTAATATATACATTACATAATGTATA TTATATGTAATATATACATTACATAATGTATATTATATGTAATATATACA TTACATAATGTATATTATATGTAATATATACATTATATAATATATACATT GTATATAATGTATATTATATATAATATATACATTGTATATAATGTATATT ATATATAATATATACATTGTATATAATGTATATTATATATAATATATACA TTGTATATAATGTATATTATATATAATATATACATTGTATATAATGTATA TTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(728): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	2	376	0.0053	735	c.666 others(752): Show c.666-4737_666-4736insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCA ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(728): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0101 a0001c0001t0005g0101	1	376	0.0027	735	c.666 others(752): Show c.666-4737_666-4736insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(728): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03486.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0106 a0001c0001t0005g0100 a0001c0001t0004g0106 a0001c0001t0005g0100	2	376	0.0053	735	c.666 others(752): Show c.666-4737_666-4736insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IRS2_chr13_109747695_109791583	109766078	A A	ACTCCGAC others(728): Show ACTCCGACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGG CTCCAACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGC TCCTCCTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACT CCGACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTC CGACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCC AACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCA ACTCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACTTTGGCTCCTC CTCCCCACCAAGCATGTAGATATCCCAGCCTCAACCACCCTGACTCCGAC TCCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACT CCCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTC CCCACCAAGCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCTCCTCC CCACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCC CACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCC ACCAAGCATGTAGATATCCCAGCCTCATCCACCCTGACTCCGACTCCCCA CCAAGCATGTAGATATCCCAGCCTCATCCACCTTGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0047 a0001c0024t0047	a0001c0024t0047g0286 a0001c0024t0047g0286	1	398	0.0025	735	c.401 others(754): Show c.4013-9771_4013-9770insCCAAGGTGGATGAGGCTGGGATATCT ACATGCTTGGTGGGGAGTCGGAGTCAGGGTGGATGAGGCTGGGATATCTA CATGCTTGGTGGGGAGTCGGAGCCAGGGTGGATGAGGCTGGGATATCTAC ATGCTTGGTGGGGAGTCGGAGCCAGGGTGGATGAGGCTGGGATATCTACA TGCTTGGTGGGGAGGAGGAGCCAAGGTGGATGAGGCTGGGATATCTACAT GCTTGGTGGGGAGTTGGAGCCAAGGTGGATGAGGCTGGGATATCTACATG CTTGGTGGGGAGTTGGAGTCAGGGTGGATGAGGCTGGGATATCTACATGC TTGGTGGGGAGTCGGAGTCAGGGTGGTTGAGGCTGGGATATCTACATGCT TGGTGGGGAGGAGGAGCCAAAGTGGATGAGGCTGGGATATCTACATGCTT GGTGGGGAGTTGGAGCCAAGGTGGATGAGGCTGGGATATCTACATGCTTG GTGGGGAGTTGGAGCCAAGGTGGATGAGGCTGGGATATCTACATGCTTGG TGGGGAGTCGGAGTCAGGGTGGATGAGGCTGGGATATCTACATGCTTGGT GGGGAGTCGGAGTCAGGGTGGTTGAGGCTGGGATATCTACATGCTTGGTG GGGAGGAGGAGCCAAGGTGGATGAGGCTGGGATATCTACATGCTTGGTGG GGAGTTGGAGCCAAGGTGGATGAGGCTGGGATATCTACATGCTTGGTGGG GAGTCGGAG	IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1			chr13	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(728): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCATCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	312	0.0032	735	c.-41 others(750): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCC CCCACAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCATCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCCACAGC CACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCG CCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(728): Show CGCCCCCACAGCCGCCCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0150 a0001c0003t0001g0150	1	312	0.0032	735	c.-41 others(750): Show c.-41+629_-41+630insCCCCCACAGCCGCCCCCCCCACAGCCGCCC CCCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGC CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCG CCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(728): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGGAGGAGAGAAGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAG AGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGG AGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGA GGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGG GGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGG AGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGG AGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02647.hp1 HG03041.hp2 others(1): Show HG02145.hp2 HG02647.hp1 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0044 a0001c0001t0021 a0001c0001t0044	a0001c0001t0021g0022 a0001c0001t0044g0139 a0001c0001t0021g0022 a0001c0001t0044g0139	4	386	0.0104	735	c.-46 others(746): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTCCT CCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCC CTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTC CCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCT CCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCC CTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTG TCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCC TTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCT TTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCC TTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCCCTT C	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(728): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTCC ACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCTCCCCC TTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCTCCACCCTC CCTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCCCTCC CCTCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTC CCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTC CCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCT TCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCT CTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCCTCACCTCCC CTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTC CCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCC CCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0001 a0003c0027t0001	a0003c0027t0001g0235 a0003c0027t0001g0235	1	278	0.0036	735	c.115 others(752): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCC TCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCTCCACC CTCCCTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTCCCC TCCCCTCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCCTCCC CTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCTTCCC CTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTC CCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTCCCCTCC CCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCCTCACCT CCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCC TTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCC TCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCC CACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCC CCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MLPH_chr2_237482251_237560322	237544613	G G	GGGGACAG others(728): Show GGGGACAGTGGTGAGTGGGGACAGTAATGAGTCGGGGGACAGTGGTGAGT GGGCACAGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGT GGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGC AAGTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGAGGGGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCACAGT GGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGACAG TAGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACA GTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGC GACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGG GGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTG GGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGT GGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0076 a0002c0002t0003g0078 a0002c0002t0003g0076 a0002c0002t0003g0078	2	286	0.0070	735	c.153 others(754): Show c.1539+1955_1539+1956insGGACAGTGGTGAGTGGGGACAGTAAT GAGTCGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTGGGGGGACAGTG GTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAG TGGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCA CGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGCA CGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGG GACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGG GGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTG GGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTG AGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTG GTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGT GGTGAGTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGAC AGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(728): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATAAATATATATTTAGCTATATTTATATCAGATAAAATGGATTAACA GTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGC AGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATATTATATAT ATATAAAACCAAAACCAGAAGACCTAAATATATATATATATATATAAAAA ACCAAAACCAGAGGACCTAAATATATATATATAAATATATAAATATAAAT ATATAAATATATATATATAATTATATATATATATTTAGGTCCTCTGGTTT TGGTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTAT ATATATATTTATATATTTATATAAATATAAATATATAAATATATATAATT ATATATATATTTAGGTCCTCTGGTTTTGGTTATATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 NA18941.hp1 HG01515.hp2 HG01517.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0148	3	312	0.0096	735	c.293 others(754): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATTTAGCTATATTTATATCAGATAAAATGGATTAACAGTCAAAAACT GTAAAATGAGACAAAGAAGGCCATTATATAACGATAAAGCAGTCAATTCT TCAAGAGCATATAACTACTGTAAATATATATATTATATATATATAAAACC AAAACCAGAAGACCTAAATATATATATATATATATAAAAAACCAAAACCA GAGGACCTAAATATATATATATAAATATATAAATATAAATATATAAATAT ATATATATAATTATATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTT TATATATATATATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTT ATATATTTATATAAATATAAATATATAAATATATATAATTATATATATAT TTAGGTCCTCTGGTTTTGGTTATATGTATATATATATATTTAGGTCCTCT GGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(728): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18989.hp2 NA18994.hp1 others(5): Show NA18961.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp1 NA19060.hp2 NA19062.hp1 NA19070.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0105 others(5): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0002g0105 a0001c0001t0002g0229 a0001c0002t0001g0150 a0001c0002t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0151	8	262	0.0305	735	c.129 others(752): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAG ATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184457	G G	GGCTCCAT others(728): Show GGCTCCATCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCA AGCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAG TCCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACC CATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAGCCCA TTCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATG CCCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCC CACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCA CTGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTA AGTCCATCCCCCGCTGAGTCCATCCCCCGCTGAGTCCATCCCCTGCTGAG TCCATCCCCCACTGAGCTCCATCCCCCACTAAGCTCCATCCCCCACTAAA CCCATCTCCCAACAAGCTCCATCCCCCACCAAGCTCCGTCCGCCACCAAG CTCCATCCCCCACTAAACCCATCCCCCACTGAGCTCCATCCTCCACTGAA CCCATCCCCACTGAGTCCATCTCCCACTGAGTCCAACCCCACTGAACCCA TCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCACTGAACCCATC CCTCACTGAACCCATCCTCCACTGAATCCATCCCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	426	0.0024	735	c.273 others(750): Show c.273-415_273-414insGGGGGATGGATTCAGTGGAGGATGGGTTCA GTGAGGGATGGGTTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGT GGGGGATGGGTTCAGTGGGGTTGGACTCAGTGGGAGATGGACTCAGTGGG GATGGGTTCAGTGGAGGATGGAGCTCAGTGGGGGATGGGTTTAGTGGGGG ATGGAGCTTGGTGGCGGACGGAGCTTGGTGGGGGATGGAGCTTGTTGGGA GATGGGTTTAGTGGGGGATGGAGCTTAGTGGGGGATGGAGCTCAGTGGGG GATGGACTCAGCAGGGGATGGACTCAGCGGGGGATGGACTCAGCGGGGGA TGGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTCAGTGAGGGATGG ACTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGAATGGGC TCAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGGGGGATGGGTTCA GTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAGGATGGACTCAGT GGGGAATGGGCTCAGTGGGGGATGGGTTCAGTGGGGGATGGGTTCAGTGG GGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGGG GATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGTTTAGTGGGGGAT GGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAGTGGGGGAT GGAGC	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(728): Show CACCACCATCACCATCACCACCACCATCACCACCACCACCATCATCATCA CCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATCACA ACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCACCAC CATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCA TCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACTACC ATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCACCAT CACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCATCA CCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATCACC ACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCACCAC CATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCACGA TTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACCACC ATCACCACCGCCACCATCATCATCATCACCACCACCACCATCACCAGCGC CACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCATCA TCACCATTATCATCACCATTGTCACCATTATCACCATCATCACCATTATC ACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02055.hp2 HG02723.hp1 others(5): Show HG01943.hp2 HG02055.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp2 HG03471.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0004 a0001c0002t0006 a0001c0006t0003 a0001c0002t0004 a0001c0002t0006 a0001c0006t0003	a0001c0002t0004g0162 a0001c0002t0006g0105 a0001c0002t0006g0170 others(5): Show a0001c0002t0004g0162 a0001c0002t0006g0105 a0001c0002t0006g0170 a0001c0002t0006g0172 a0001c0002t0006g0173 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0006t0003g0171	8	300	0.0267	735	c.120 others(754): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGATGGTGG CGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTG ATGGTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGT GGTGATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAG TGATGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTG ATGGTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGAT GGTGGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGA TGGTGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTG GTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGAT GGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGA TGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTT GTGATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGT GATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(728): Show CACCACCATCATCACCATCACCACCACCACCACCACCACCATCATCACCA TCATCACAACCACCACCATCGTCACCACCATAACCAACACCATCACAACC ACCACCATCACCATAACCATCACCACCATCATCACCATCACCACCACCAT CATCACCATCACCACCACCATCACCATCACCACCATCACCACCATCATCA CCACCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCA TCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCATCA TCACCATTATCATCACCATTGTCACCATTATCACCATCATCACCATTATC ACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18974.hp1 NA19057.hp1 NA18962.hp1 NA18974.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0042 a0001c0001t0002 a0001c0005t0042	a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0005t0042g0248 a0001c0001t0002g0123 a0001c0001t0002g0132 a0001c0005t0042g0248	3	300	0.0100	735	c.120 others(754): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGG TGATGGTGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTG GTTGTGATGATGGTGATGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(728): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCA TCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCATCA TCACCATTATCATCACCATTGTCACCATTATCACCATCATCACCATTATC ACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02630.hp2 HG02647.hp2 others(1): Show HG02572.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0007 a0001c0002t0023 a0002c0003t0024 others(1): Show a0001c0001t0007 a0001c0002t0023 a0002c0003t0024 a0002c0003t0046	a0001c0001t0007g0296 a0001c0002t0023g0298 a0002c0003t0024g0297 others(1): Show a0001c0001t0007g0296 a0001c0002t0023g0298 a0002c0003t0024g0297 a0002c0003t0046g0299	4	300	0.0133	735	c.120 others(754): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTG GTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGG TGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(728): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCACCACCATCACCATCACCATCACCACCACC ATCACTACCATAACCACCATCACCATCATCACCATCATTACCACCATCAT CATCACCATCACCACCACCATCATCACCACCATCATCACCATAACCACCA CCACCATCACCATAACCATCACCACCATCATCACCATCACCACTACCGTC ACCATCACCACCACCATCACTACCATCACCATCACCACCACCATTATCAC CATCACCACCATCATCACCACCATCACCACCATCATCACCATCACCACCA CCATCACGATTATCACCATCACCGCCATCATTACCACCATCATCACCATC ACCACCACCATCACCACCGCCACCATCATCATCACCACCACCACCATCAC CAGCGCCACCACCACCATCACCATCACCACCACCACCATCACCACCATCA TCACCATTATCATCACCATTGTCACCATTATCACCATCATCACCATTATC ACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02647.hp1 others(1): Show HG02559.hp2 HG02615.hp1 HG02647.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0062 a0001c0001t0008g0008 a0001c0001t0008g0009 others(1): Show a0001c0001t0002g0062 a0001c0001t0008g0008 a0001c0001t0008g0009 a0001c0001t0008g0011	4	300	0.0133	735	c.120 others(754): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGA TGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATA ATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGAT GGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGG TGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATG GTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGT GATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTA TGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTG GTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGG TGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(728): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCATCACCACCATCACCACCA TCATCACCACCACCACCACCATCACCATCACCATCACCACCACCATCACT ACCATAACCACCATCACCATCATCACCATCATTACCACCATCATCATCAC CATCACCACCACCATCATCACCACCATCATCACCATAACCACCACCACCA TCACCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATC ACCACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCAC CACCATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCA CGATTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACC ACCATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGC CACCACCACCATCACCATCACCACCACCACCATCACCATCACCACCATCA TCACCATTATCATCACCATTGTCACCATTATCACCATCATCACCATTATC ACCATTATCCTCACCATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 HG03139.hp2 others(1): Show HG02258.hp2 HG02965.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0034 a0001c0001t0003g0096 a0001c0001t0003g0098 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0004g0097	4	300	0.0133	735	c.120 others(754): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGATGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGAT GGTGGTGGTGGCGCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGG TGGTGATGGTGGTGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATG GTGATAATCGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGT GATGATGGTGGTGATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGA TGGTGGTGGTGATGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATG GTTATGGTGATGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGT GGTGGTGATGGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGG TGGTTATGGTAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTG GTGGTGATGATGGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATGG TGGTGGTTGTGATGGTGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTG ATGATGGTGATGATGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(728): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCATCACCATCACCAC CACCACCATCACCACCAGCACCACCAGCACCACCACCATCAACATCATCA TCATCACCACCATCACCACCATCATCACCACCACCGTCATCACCACCAGC ACCACCATCACCACCACCATCACCACCATCTCACCATCATCACCATCACC ATCACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCTCACCATCACCATCACCACCATCATCACCACCACCACCACCACC ACCACCACCATCATCACCATCACCACCAGCACCACCACCATCACCATCAC CATCACCACCATCATCATCACCACCACCACCACCACCACCACCACCACCA TCATCACCATCACCACCAGCACCACCACCATCACCACCACCATCACCACC ACCACCACCACCATCATCACCATCACCACCAGCACCACCACCAACATCAT CATCATCACCACCACCACCACCATCACCACCACCACCACCATCAACACCA CCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0287 a0003c0003t0007g0287	1	322	0.0031	735	c.48 others(746): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGA TGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGATGGTGAT GATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGATGGTGGTGA TGGTGATGGTGATGGTGGTGGTGCTGGTGGTGATGGTGATGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATG GTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTG GTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGAT GATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGG TGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTG ATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGGTGGTG ATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTG GTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATGGTGGT G	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TAATTATA others(728): Show TAATTATATATAATTATATACAATTATATAATTATATATAATTGTATATA ATTATTTATTATATAATTATATATTTTATTATATATTATATAATTATATA ATTATATATTATTTATTATATAATATATAATTATATATTATATATTATAT AATTATATATTATTTATTATATAATATATAATTATATATTATTTATTATA TAATTATATATTATTTATTATATATATTATTTATTATATAATTATATATT ATGTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATATTATTTATTATATAATTATATATTAT TTATTATATAAGTATATATTATTTATTACATAAGTATATATTATTTATTA CATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATAT AATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03225.hp1 HG03471.hp1 HG02622.hp1 HG03225.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0010 a0001c0021 a0001c0002 a0001c0010 a0001c0021	a0001c0002t0001 a0001c0010t0001 a0001c0021t0001 a0001c0002t0001 a0001c0010t0001 a0001c0021t0001	a0001c0002t0001g0037 a0001c0010t0001g0086 a0001c0021t0001g0094 a0001c0002t0001g0037 a0001c0010t0001g0086 a0001c0021t0001g0094	3	106	0.0283	735	c.862 others(752): Show c.862+3416_862+3417insATTATATATAATTATATACAATTATATA ATTATATATAATTGTATATAATTATTTATTATATAATTATATATTTTATT ATATATTATATAATTATATAATTATATATTATTTATTATATAATATATAA TTATATATTATATATTATATAATTATATATTATTTATTATATAATATATA ATTATATATTATTTATTATATAATTATATATTATTTATTATATATATTAT TTATTATATAATTATATATTATGTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATATTATGTATTATATAATTATATAATTATATA TTATGTATTATATAATTATATATTATTTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATAAGTATATATTATTTATTACA TAAGTATATATTATTTATTACATAAGTATATATCACTTATTATATAATTG CATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTG TATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTC TATATAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(728): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTTCCTCCCTTCCTCCCTCCCTG CCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC CCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCC TCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTT CCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCC TCCCTCCCTCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTC CCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	250	0.0040	735	c.309 others(754): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTTCCTC CCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTGCCTCCCTCCCTCCCTCTGCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCC TCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCC TCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(728): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCT CCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCCTCCCCT GCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACC TCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCCCACAACCTCCCCC TGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACAC CCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCC CTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCT CCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCA CACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCC ATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCC TCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCCATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0026 a0026	a0026c0050 a0026c0050	a0026c0050t0009 a0026c0050t0009	a0026c0050t0009g0141 a0026c0050t0009g0141	1	210	0.0048	735	c.147 others(752): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGC ACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC ACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCC CTCCCCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTG CACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCC CACAACCTCCCCCTGCACACCCCACCCCCCTCCCCTGCACACCCCACAAC CTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCC TGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACC CCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCC ACCCCCTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTC CCCTGCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCAC ACCCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCC ACCCCCCTCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGC ACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 8931 hits)