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
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(719): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAG GGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAG GGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGAAGGGAAGGG GAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAGGG GAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAA GGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGA AGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAA GGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGG GAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGAC GGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGGGA AGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0151 a0002c0004t0002g0151	1	242	0.0041	726	c.927 others(743): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTT CCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCT TCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCT TCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCC CCTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCCCTTCCCTTCC CCTTCCCTTCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTCCCTT CCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(719): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0073 a0001c0004t0003g0073	1	298	0.0034	726	c.955 others(743): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C1QTNF12_chr1_1237453_1251722	1248905	G G	GCGAGGGA others(719): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01891.hp1 HG01123.hp2 HG01891.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0092 a0004c0003t0001g0095 a0004c0003t0001g0092 a0004c0003t0001g0095	2	328	0.0061	726	c.-22 others(737): Show c.-2216_-2215insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2184		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(719): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGG GACACGGGCAGCCCTGGGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01993.hp1 HG03669.hp2 others(1): Show HG01975.hp1 HG01993.hp1 HG03669.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0036	4	328	0.0122	726	c.-23 others(737): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816925	C C	CACACGCG others(719): Show CACACGCGCGCGTGTATGTATGTGTGTACACACGCGCGCGTGTATGTATG TGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTG TGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTG TACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTA CACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACA CACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACA CGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACG CGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCG CGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCG CGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCG TGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTG TATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTA TGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATG TGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTG TGTACACACGCGCGCGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0051 a0001c0001t0024g0051	1	366	0.0027	726	c.645 others(743): Show c.645+1285_645+1286insGCGCGCGTGTATGTATGTGTGTACACAC GCGCGCGTGTATGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC ACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACAC GCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGC GCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGC GCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGC GTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGT GTATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGT ATGTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTAT GTGTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGT GTGTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGT GTACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGT ACACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTAC ACACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC ACGCGCGCGTGTATGTGTGTACACACGCGCGCGTGTATGTGTGTACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(719): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCACCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CTATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCC ACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGC CCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCC ACCTTCCTGCCCCCTCGCCTGCCACGGCCTACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCTACCTTCCTGC CCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCC ACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0017 a0001c0019t0017	a0001c0019t0017g0128 a0001c0019t0017g0128	1	284	0.0035	726	c.411 others(743): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGG CAGGAAGGTAGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTAGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGG CAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTG GGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGG AAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(719): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGG AGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGG GGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGA GCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCA GGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTG GAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	168	0.0060	726	c.-26 others(735): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCTGCTCTCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCC TCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCC CAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCC CCCTCCTCCCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCT CCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCT CCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCT CCCCCTCCTCCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CRTC3_chr15_90524923_90650345	90647631	T T	TCCCCCTC others(719): Show TCCCCCTCCTCCTTCACACCCCTCATCCTCCACACTCCTCCCCTCCACAC CCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCCCCTCCTCA CCTCTCCTCCTCCACACTCACTCCTCCACACCCCTCCTCCTCACCCCTCC TCAACCTCCACACCACACCCCCTCCACTCCCGGCTCACCTCTCCCCTCCC TCACCCCTCCTCCTCCATACCCCTCCTCCTCCTCCACACCCCTACCCCTC CACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCTCAACCTTCACA TCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCCCTCTCCCCTCATCA CCTCTCTTCCTCCTCCACACCCCTCTTCCTCCACACCCATCCTCCTCCAT GCCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCT CCACACCCCTCCTCCTCCTCCACACCCCTTCTCCTCCTCCACACCCCTCC TTCTCAACCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTT CCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTATGTCCTACTCCACA CCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACC CCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCA TCCTCCTCACCGTTCCTCCACCACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0140 a0001c0001t0011g0140	1	276	0.0036	726	c.54 others(737): Show c.5491_*5492insCCCCCTCCTCCTTCACACCCCTCATCCTCCACAC TCCTCCCCTCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACAC CCCTCCCCCTCCTCACCTCTCCTCCTCCACACTCACTCCTCCACACCCCT CCTCCTCACCCCTCCTCAACCTCCACACCACACCCCCTCCACTCCCGGCT CACCTCTCCCCTCCCTCACCCCTCCTCCTCCATACCCCTCCTCCTCCTCC ACACCCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACAC ACCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACC CCTCTCCCCTCATCACCTCTCTTCCTCCTCCACACCCCTCTTCCTCCACA CCCATCCTCCTCCATGCCTCTCCTCCTCCTCCACACCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTTCTCCT CCTCCACACCCCTCCTTCTCAACCCTCCTCCTCAACCCTCCTCCTTCACA CCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCT ATGTCCTACTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACC CTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGT CCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2287		chr15	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(719): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAG CCTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATG AAATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGC AGTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG03225.hp1 others(5): Show HG02717.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG04184.hp1 NA18949.hp1 NA18975.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0016 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0001t0062	a0001c0001t0002g0177 a0001c0001t0003g0050 a0001c0001t0016g0250 others(5): Show a0001c0001t0002g0177 a0001c0001t0003g0050 a0001c0001t0016g0250 a0001c0001t0028g0259 a0001c0001t0034g0184 a0001c0001t0035g0193 a0001c0001t0047g0336 a0001c0001t0062g0185	8	376	0.0213	726	c.26 others(737): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAG GGACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCAT AGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTC TGCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAA CGACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCT TGAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGA ATGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTG AGCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGG GATGAGCACGTCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGG TCTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACT TGTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACT CCTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(719): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGATGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAG CCTATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATG AAATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGC AGTGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	376	0.0027	726	c.26 others(737): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAG GGACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCAT AGCTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTC TGCCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAA CGACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCT TGAGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGA ATGTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTG AGCCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGG GATGAGCACATCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGG TCTTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACT TGTGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACT CCTGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DISP3_chr1_11474155_11542551	11522738	G G	GACCCAGC others(719): Show GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CGAGAGCCCAGCCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0143 a0005c0006t0001g0143	1	358	0.0028	726	c.236 others(745): Show c.2363-1204_2363-1203insACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438426	A A	AGGAGGAG others(719): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGG AGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGGAGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGG AGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGG AGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAG GAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGAGGAGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGAGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0081 a0081	a0081c0077 a0081c0077	a0081c0077t0002 a0081c0077t0002	a0081c0077t0002g0068 a0081c0077t0002g0068	1	252	0.0040	726	c.118 others(745): Show c.11806-559_11806-558insCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCC TCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCCCCTCCTCCTCCCCC TCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(719): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCAT CACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCA CCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCAT CACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCACCGTCACCACCTTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02055.hp1 HG02572.hp2	a0001 a0011 a0001 a0011	a0001c0066 a0011c0161 a0001c0066 a0011c0161	a0001c0066t0014 a0011c0161t0002 a0001c0066t0014 a0011c0161t0002	a0001c0066t0014g0084 a0011c0161t0002g0234 a0001c0066t0014g0084 a0011c0161t0002g0234	2	256	0.0078	726	c.323 others(745): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACC ACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCACCACCACTTCCACCATCACCAC CTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCA CCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCAC CTCCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(719): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACC ACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTC CACCACCACCTCCTCCACTGCCACCACCATCTTCACCATCACCACCACCA CCTCCATCACCACCACCTCCACCACCACCACCACCTCCATCACCACCACC ACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCAC CACCACCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCA CCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAAT ATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0191 a0002c0005t0001g0191	1	256	0.0039	726	c.323 others(745): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCT CCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTGCCACCACC ATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCAC CACCACCTCCATCACCACCACCACCACCACCACCACCACTTCCACCATCA CCACCTCCTTCACCATCACCACCACCACCACCACCACCACCACCTCCACC ACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCAT CGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619093	G G	GCCCCCCC others(719): Show GCCCCCCCTGCTCCCCTCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCACGCTCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTG CAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCC TGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCT CCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCTCC CCCGCTCCCCTCCCTGCAGCCCCCTGC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	250	0.0040	726	c.-10 others(745): Show c.-107+5380_-107+5381insCTGCTCCCCTCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCACGCTCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGC AGCCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXOC3L4_chr14_103089725_103115559	103109689	C C	CTCCCTCC others(719): Show CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTC CACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGTCCCCGTGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0002 a0002c0041t0002	a0002c0041t0002g0301 a0002c0041t0002g0301	1	404	0.0025	726	c.197 others(743): Show c.1977-342_1977-341insTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCC TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACC CTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGT	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11			chr14	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(719): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCCT CTCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCT TCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTC CCTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCT CTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCT CCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCCTCTCCT TCTCTCCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTC TCCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCC TCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTC CCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTC TCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCC ACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0147 a0001c0002t0002g0147	1	230	0.0044	726	c.126 others(743): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGCGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAG GGGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAG AGAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGGAGAGAA GGAGAGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGA GAGAGGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGA GGGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAG AGAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGG AGAGGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAA GAGAGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGA GGGGTAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGG GGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(719): Show TCCCCTTTCCCCCCTCTCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTC TCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTC CCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTCC CCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCACC CCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCC TCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCTCTCCCTCTTTCTC CTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCC TTCCCGCTCCTCTCTCCCCTTTCTCCCTCTCTCTCCTCCCCCTCCCTCTC TCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCC CCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTG CCCTCTCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTC CCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCTTTC CCTCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTC TCCCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCC ACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	230	0.0044	726	c.126 others(743): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGG AGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAGGGC AGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGGGG GGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAG AGAGGGAGGGGGAGGAGAGAGAGGGAGAAAGGGGAGAGAGGAGCGGGAAG GAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGG AGAAAGAGGGAGAGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAG GGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGG GTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGG GAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGG AGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAG AGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(719): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAG CTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACA CCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAA AAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCT GAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAAT ATGGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0070 a0001c0003t0003g0070	1	155	0.0065	726	c.-31 others(737): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATG GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(719): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGT GGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGA GTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAA AAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACAC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTG AGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATA TGGTAAGACCCTATTATCTACAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	155	0.0065	726	c.-31 others(737): Show c.-3105_-3104insTTTTTTGTAGATAATAGGGTCTTACCATATTGCC CATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTC CCGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTT GTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGG GCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGC ACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATG GGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAA TCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACC ACGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(719): Show TCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACTAC CACCTCTACCACCTCTACCACCACCATCACCACCACCACCACTACCACCT CTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCATC ACCACCACCACCACCACTACCACCTCTACCACCACCACCACCACCACCAC CACCACTACCACCTCTACCACCTCTACCACCACGACCACCACTACCACCT CTACCACCACCATCATCACCACCACCACTACCACCTCTACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCACCACCACTACCACCTC TACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCATCA CCACCATCATCACCACCACCACTACCACCTCTACCACCACCATCACCACC ACCACTATCACCACCTCTACCACCACCATCACCACCACCACCACCATCAC CTCTACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCATCACCACCTCTACCACCACCATCACCACCACCACTATCACC ACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCACCACCAT CACCACCACCACCACCACCACCTCTACCACCACCATCACTACTACCACCA CCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 HG02622.hp1 HG03130.hp1	a0015 a0033 a0015 a0033	a0015c0013 a0033c0019 a0015c0013 a0033c0019	a0015c0013t0005 a0033c0019t0015 a0015c0013t0005 a0033c0019t0015	a0015c0013t0005g0002 a0033c0019t0015g0057 a0015c0013t0005g0002 a0033c0019t0015g0057	2	134	0.0149	726	c.520 others(747): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATAGT GGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTG GTAGAGGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGT GGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGG TAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTG GTGGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGT GGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTGG TAGAGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGAG GTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTAGAGGTGGT AG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
JAKMIP3_chr10_132060946_132189858	132172970	T T	TCTCTCCT others(719): Show TCTCTCCTTCCCTCTCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTC TCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTACC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTC CCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCTTCCCTC TCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTTCCCTC TCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCC TCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCCTCCCCC TCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTCTCCCCC TCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCC TCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCCCCCTC TCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTC TCCCTCCCTCTCCCTCCCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0027 a0001c0017t0027	a0001c0017t0027g0012 a0001c0017t0027g0012	1	158	0.0063	726	c.11 others(747): Show c.1103+3956_*1103+3957insCTTCCCTCTCTCTCTCCCTCTCCT TCCCTCTCCCTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCCCCCTC TCCTTCCCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTC CTTACCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTC TCCTTCCCTCTCTCTCTCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTC CCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCT TCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCCCTCTCCT TCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCT TCCCTCTCTCTCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTC CTTCCCTCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTCTCCC TCCCCCTCTCCTTCCCTCTCTCCCTCCCCATCTCCTTCCCTCTCTCCCTC TCCCCCTCTCCTTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTC CTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTCTCCCCTTCCCTCTCTCTC CCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCC TCCCTCTCCCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCTTCCCTCTCTC TC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF25_chr6_167992671_168050091	167997234	G G	GGGGCGGG others(719): Show GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGGTGGGGGCCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGG GGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGAT GGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGA TGGGGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01169.hp2 HG00738.hp1 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0006 a0001c0001t0001g0234 a0001c0001t0001g0235	3	375	0.0080	726	c.-22 others(737): Show c.-2235_-2234insGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGACGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTG CAGAGGTGGGGGCCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGG AATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGG GGAATCTGCAGAGATGGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		436		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360513	G G	GGGTGGGG others(719): Show GGGTGGGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGT GGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGG GTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGAT GGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGA ATAGATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGGGTGGGT GGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGG GTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG ATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAG GAATAGATGGGTGGGTGGATGGGTGGGTGGATGGATAGGTGGATGGGTGG GTGGAGGAATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGAT GGGTGGGTGGAGGAATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAG ATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGT GGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGG GTGGGTGGGTGGGTGGGTGGATGGATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0001 a0019c0022t0001	a0019c0022t0001g0155 a0019c0022t0001g0155	1	186	0.0054	726	c.450 others(743): Show c.450+1886_450+1887insTATCCATCCACCCACCCACCCACCCACC CATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCA CCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATC TATCCCTCCACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCA TCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCACC CACCCATCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATTCC TCCACCCACCCATCCACCTATCCATCCACCCACCCATCCACCCACCCATC TATTCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCA CCCATCTATTCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACC CATCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATTCCTCCA CCCACCCATCCACCTATCCATCCACCCACCCATCCACCCACCCATCTATT CCTCCACCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCA TCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACC CACCCATCTATTCCTCCACCCACCCATCCACCTATCCATCCACCCACCCA CCCACCTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(719): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTG GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATGGGTGT GCAGTGGTGTCTCGGGATGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0273 a0001c0010t0001g0273	1	294	0.0034	726	c.153 others(745): Show c.1530-3001_1530-3000insTGCACACCCATCCCGAGACACCACTG CACACCCATCCCGTGACACCACGCACACCCGTCCCGAGACACCACTCACA CCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCG TCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACA CCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCATCC CGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(719): Show ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGAGGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGAT GGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGT GTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGT GAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATGGGTGTGAG TGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19066.hp2 NA19003.hp2 NA19066.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0005t0001g0129 a0001c0005t0001g0130	2	294	0.0068	726	c.153 others(745): Show c.1530-4293_1530-4292insAGACACCACTCACACCCGTCCCGTGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACC ACTCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACT CACACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCCTGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCCTCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	953875	A A	ACACCCAC others(719): Show ACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACCCACCCCA CACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACAC AGACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACACCCACCC CGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCGCACCAGCCTC CTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCAC ACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCAC CCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCC ACACAGACACCCACCCCACACCAGCCTCCTGCACATCCACACAGACACAG ACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAG CCTCCTACACGTCCACACAGACACCCACCCCGCACCAGCCTCCTACACGT CCACACAGACACCCACCCCGCACCAGCCTCCTACACGTCCACACAGACAC CCACCCCGCACCAGCCTCCTACACGTCCACACAGACACCCACCCCGCACC AGCCTCCTACACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0085 a0001c0012t0001g0085	1	294	0.0034	726	c.503 others(741): Show c.503+481_503+482insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT GCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTG TCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACG TGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTG GTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTG TGTCTGTGTGGATGTGCAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGA CGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGC TGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTG GGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGCGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGG TGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGCGGGGTGGGTGTCTGTG TGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(719): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CATCAAATGAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCACTG GTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0331 a0002c0008t0003g0331	1	344	0.0029	726	c.197 others(745): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTCATTTGAT GAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MCCC1_chr3_183010218_183104496	183018413	C C	CACTGGTC others(719): Show CACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAG GCCTACAGCCCAAATGTACTCGTCAAATAAGAGGCCTACAGGTCAAATGC ACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGG CCTACAGGTCAAATGTACTGGTCAAATCAGAGGCCTACAGCCCAAATGTA CTGGTCAAATCAGAGGCCTACAGCCCAAATGTACTGGTCAAATCAGAGGC CTACAGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCAC TGGTCAAATCAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCC TACAGCCCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGTACT CGTCAAATAAGAGGCCTACAGGTCAAATGCACTGGTCAAATCAGAGGCCT ACAGCCCAAATGCACTGGTCAAATCGGAGGCCTACAGGTCAAATGCACTG GTCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTA CAGCCCAAATGTACTGGTCAAATCAGAGGCCTACAGGTCAAATGTACTGG TCAAATCAGAGGCCTACAGCCCAAATGCACTGGTCAAATCAGAGGCCTAC AGGTCAAATGCACTGGTCAAATCAGAGGCCTACAGCCCAAATGCACTGGT CAAATCAGAGGCCTACAGGTCAAATGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp1 HG01070.hp2 others(50): Show HG00408.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02056.hp2 HG02083.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18960.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18985.hp2 NA18987.hp2 NA18990.hp1 NA18998.hp2 NA19002.hp1 NA19004.hp2 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19083.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0002c0002 a0004c0006	a0002c0002t0001 a0004c0006t0001 a0002c0002t0001 a0004c0006t0001	a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(47): Show a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0330 a0004c0006t0001g0068 a0004c0006t0001g0073	53	344	0.1541	726	c.197 others(745): Show c.1978-1077_1978-1076insACATTTGACCTGTAGGCCTCTGATTT GACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACC TGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTG ACCAGTACATTTGACCTGTAGGCCTCTGATTTGACCAGTACATTTGGGCT GTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGA CCAGTGCATTTGACCTGTAGGCCTCCGATTTGACCAGTGCATTTGGGCTG TAGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTTATTTGAC GAGTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGGGCTGT AGGCCTCTGATTTGACCAGTGCATTTGACCTGTAGGCCTCTGATTTGACC AGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGTGCATTTGACCTGTA GGCCTCTGATTTGACCAGTACATTTGGGCTGTAGGCCTCTGATTTGACCA GTACATTTGGGCTGTAGGCCTCTGATTTGACCAGTACATTTGACCTGTAG GCCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAG TGCATTTGACCTGTAGGCCTCTTATTTGACGAGTACATTTGGGCTGTAGG CCTCTGATTTGACCAGTGCATTTGGGCTGTAGGCCTCTGATTTGACCAGT	MCCC1	ENSG00000078070.14	transcript	ENST00000265594.9	protein_coding	17/18			chr3	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(719): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTC CCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCC CCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCCCCT TCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCC CCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCC CCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCC CCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCC CCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCT TGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTC CCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCT CCCCTCCCCCTCCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02132.hp2 NA18983.hp1 others(2): Show HG00423.hp1 HG02132.hp2 NA18983.hp1 NA19007.hp1 NA19079.hp1	a0001 a0001	a0001c0007 a0001c0010 a0001c0007 a0001c0010	a0001c0007t0003 a0001c0010t0003 a0001c0007t0003 a0001c0010t0003	a0001c0007t0003g0221 a0001c0010t0003g0131 a0001c0010t0003g0134 others(2): Show a0001c0007t0003g0221 a0001c0010t0003g0131 a0001c0010t0003g0134 a0001c0010t0003g0216 a0001c0010t0003g0219	5	278	0.0180	726	c.115 others(743): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCCCCTCTTCCCCTCCCCTCCCCTCCACCCTCCCT TCCCCTCCCCTTCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCACCCTCC CCTTCCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCCTTCCCCTCCCCCT TCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTC CCCCCTCCCCTCCCCTCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCC GCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCC TCCCCCTCCCTTCCCCTCCCTCCCCCCCTCCTCCCCCTCCCTTCCCCTCC GCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCC CTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCC TCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MROH7_chr1_54636786_54715266	54658614	T T	TGAAAATT others(719): Show TGAAAATTTATACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGC TCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGG CGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTG TAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAA AATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCT GTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAAG GCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCG TTAAGAGTCATCACCAATCCCTAATCTCAAGCAATCAGGGACACAAACAC TGCAGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTC ACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCA AATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAATAAATT AAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0369 a0003c0024t0003g0369	1	380	0.0026	726	c.123 others(745): Show c.1231+4468_1231+4469insCTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGT GTGCCCAACAGCTCATTGAGAACGGGCCAGGATGACAATGGCGGCTTTGT GGAATAGAAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTT GCCGTGTCTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTC TGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTGTGACCTT ACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTCAGGGTTA AATGGATTAAAGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAG GCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGCAATCAG GGACACAAACACTGCAGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAG AGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCC ATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATA AAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATTTATA	MROH7	ENSG00000184313.20	transcript	ENST00000421030.7	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCCTAC others(719): Show CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0157 a0002c0003t0001g0157	1	394	0.0025	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCC CCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0156 a0002c0003t0001g0156	1	394	0.0025	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG TAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCCG GCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCC CGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0151 a0002c0003t0001g0151	1	394	0.0025	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTA GGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0145 a0002c0003t0001g0145	1	394	0.0025	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCT ACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCT ACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0144 a0002c0003t0001g0144	1	394	0.0025	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370388	C C	CCCCTACC others(719): Show CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTC TCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTAC CCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTA CCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTA CCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCCGGCCCCCGGGCTCTCACT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0068 a0002c0003t0001g0068	1	394	0.0025	726	c.-8+ others(739): Show c.-8+110_-8+111insAGTGAGAGCCCGGGGGCCGGGGGTAGCGGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGG TGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGT AGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(719): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTA CCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCT ACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	394	0.0025	726	c.-8+ others(739): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGC GGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGG GCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGG GGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAG CCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAG AGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(719): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATACATATTTCAATATAAGTATGTATATAAATA TACATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATA TATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAG TATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATA TATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATG TATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATA TTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0183 a0003c0003t0001g0183	1	326	0.0031	726	c.358 others(743): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGT ATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATATAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATAT ATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGT ATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATATTT AAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATATATAT AAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(719): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGTATGTA TATAAATATACATATTTCAATATAAGTATATAAAAATATATATATTTCAA TATAAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	326	0.0031	726	c.358 others(743): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCA ATATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAAT ATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTAT GTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(719): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCG CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACAACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCT ACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCC TTACCGACCCTGGGTCCCTCCGCCCCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	378	0.0027	726	c.147 others(745): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(719): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTA TATATACACAGTATGTATACTGCATGCAGTATGTATACAGTATACATACT GCATGCAGTATGTATACAGTATACATACTGTATGCAGTATGTATACTGTA TACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGT ATACTGTATATATACACAATACAGTATGTATACTGTATATATACACAATA CAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATAT ACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACT GTATATATACACAATACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0076 a0002c0006t0006g0076	1	362	0.0028	726	c.-75 others(745): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACT GTATTGTGTATATATACAGTATACATACTGTATTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATACAGTATGTATACTGTATACATACTGCATG CAGTATGTATACTGTATACATACTGCATGCAGTATACATACTGTGTATAT ATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACATACAGTATACATACATACAGTATACATACATACAGTAT ACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(719): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGG TGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGG GTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGG GTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGA GGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGG GGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCG GGTGGGGTGGCAGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTG GCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATAC CAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGTGA GAGGTCATACCGGGTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	208	0.0048	726	c.346 others(745): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCG CCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACTGCCACCCCAC CCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGAC CTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCA CCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTA CCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCC ACCTGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCAC TACCCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTAT GACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACC CCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(719): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATA CTATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0091 a0002c0004t0001g0091	1	439	0.0023	726	c.-16 others(737): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATAC TCTATAGTATATATACTATATATACTATAGAGTATATATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PCBP3_chr21_45638725_45947450	45923981	A A	AGTGGATA others(719): Show AGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCGAG TGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAAC ACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGC ACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACAC GTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTG GGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACAC TGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGT AAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGA TAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAGATGCGAACACCG GGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGA GGAGATGTGAACACCGGGAACAGTCGC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0086 a0001c0004t0002g0086	1	292	0.0034	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	292	0.0034	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGAT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG01255.hp2 others(10): Show HG00280.hp1 HG01070.hp2 HG01255.hp2 HG03017.hp1 HG03239.hp2 HG03491.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 NA18959.hp1 NA19081.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0066 others(10): Show a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0091 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0239 a0001c0001t0002g0245 a0001c0001t0002g0252 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0287	13	292	0.0445	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924018	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACG TAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGAGTGG GTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACG AGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGG GAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGA ACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02523.hp2 NA18962.hp1 others(2): Show HG02015.hp1 HG02523.hp2 NA18962.hp1 NA19007.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 others(2): Show a0001c0001t0007g0234 a0001c0001t0007g0238 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0258	5	292	0.0171	726	c.718 others(743): Show c.718-5890_718-5889insTGAACACTGGGAACAGTCGCATGGATAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACTGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGA GATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGTGAACACTGGGAAC AGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCG GGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAAC AGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAG TCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATG TGAACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGG TGTGAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAG CACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTC GCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924216	C C	CGAGGAGA others(719): Show CGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACG TAAGATTGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGG ATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGTGAACACC GGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTA AGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGAT AGAAACAGCACACGTAAGATTGGGTGTGCACGAGGAGATGCGAACACCGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAG GAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGTAG AAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACTGGGA ACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCACGAGGAGATGCGAACACCGGGAACAGTCACGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	292	0.0034	726	c.718 others(743): Show c.718-5646_718-5645insTGGGTGTGCACGAGGAGATGCGAACACC GGGAACAGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTG AGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTA AGATCGGGTGTGCGTGAGGAGATGTGAACACCGGGAACAGTCGAGTGGGT AGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGG GAACAGTCGCGTGGATAGAAACAGCACACGTAAGATTGGGTGTGCACGAG GAGATGCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAG ATCGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAG AAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGA ACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGA GATGCGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT CGGGTGTGCGTGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAA ACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCGGGAAC AGTCACGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGA TGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGAT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45924299	C C	CGGGAACA others(719): Show CGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCAC GAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGT AAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGG TAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGCGAACACCG GGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGA GGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAA GATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATA GAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGG AACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGG AGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGA TCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCGCATGGATAGA AACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAA CAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGTGAGTGAGGAG ATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG01981.hp2 others(1): Show HG01361.hp1 HG01516.hp2 HG01981.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 others(1): Show a0001c0001t0005g0273 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0292	4	292	0.0137	726	c.718 others(743): Show c.718-5607_718-5606insAGTGGGTAGAAACAGCACACGTAAGATC GGGTGTGCACGAGGAGATGTGAACACCGGGAACAGTCGCGTGGATAGAAA CAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGCGAACACCGGGAACA GTCGAGTGGGTAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGAT GCGAACACCGGGAACAGTCGCGTGGATAGAAACAGCACACGTAAGATCGG GTGTGCGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACA GCACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACCGGGAACAGT CGCGTGGATAGAAACAGCACACGTAAGATCGGGTGTGCGTGAGGAGATGC GAACACCGGGAACAGTCGCGTGGGTAGAAACAGCACACGTAAGATCGGGT GTGCACGAGGAGATGTGAACACTGGGAACAGTCGCGTGGATAGAAACAGC ACACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG CATGGATAGAAACAGCACACGTAAGATCGGGTGTGCACGAGGAGATGTGA ACACTGGGAACAGTCGCATGGATAGAAACAGCACACGTAAGATCGGGTGT GAGTGAGGAGATGCGAACACCGGGAACAGTCGAGTGGGTAGAAACAGCAC ACGTAAGATCGGGTGTGCACGAGGAGATGTGAACACTGGGAACAGTCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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