Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(706): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCC TCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCC TCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTAC TCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCT CCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	322	0.0031	713	c.4-1 others(726): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCTCCTCTTCCCCTCTCCT CCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTC TCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCC CTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGT CCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(706): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATATAT ATATACAAGTATATATATATACTTGTATACATATATACTATATATATACG TATATACACGTATATACGTATATATATGTATATATACGTATATACATGTA TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACATGTATATATATACGTATATATA CACATATATACGTATATATATACGTATATATACACATATATACATGTATA TATATACGTATATATACACATATATACATGTATATATACATGTATATATA CACATATATACATGCGTATATATATACGTATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATACATGTATATATACACATATATACATGCGTATATATA TACGTATGTATATATGTATATATACGTATATACATGTATATATATACGTA TATATACATATATACGTATATATACATGTATATATATGTGTGTATATATA TACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0258 a0002c0002t0003g0258	1	383	0.0026	713	c.-42 others(724): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATATATATATACAAGTATATATATATACTTGTATACATATA TACTATATATATACGTATATACACGTATATACGTATATATATGTATATAT ACGTATATACATGTATATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACATGTATAT ATATACGTATATATACACATATATACGTATATATATACGTATATATACAC ATATATACATGTATATATATACGTATATATACACATATATACATGTATAT ATACATGTATATATACACATATATACATGCGTATATATATACGTATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATACATGTATATATACACATATAT ACATGCGTATATATATACGTATGTATATATGTATATATACGTATATACAT GTATATATATACGTATATATACATATATACGTATATATACATGTATATAT ATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025442	A A	ACCCACAC others(707): Show ACCCACACACCCACACACCCATACACACACCAGACCCCCACACCCCCACA CACAGCCACACCCCCACACCCATACACACACACCCACCCACCCACACCCA CACCCACCACACACACCCACACCCCCCCCACACACCCACATACCCCCACC ACACACCCACACACCCCCTCACACACACACCCACACCCACCACACACCCC CACCACACACCCACATACACCCACACCCCCACCACACACCCCCACATACT AATACACACACACACCCACACCCTCCCACCCCCCCCACCACACACCAATA CACACCCACACACCCCCTCACACACACACCCACACACCCACACACCCACC ACACACCCATACATACACACCCCCACACCCCCTCACACCCTCCCCCCACT CACCCATACACAACCCCCACCACACCCCCACACCCATACACACACACACC CCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCC CCACACACCCATACACACACCCCCACCACACCCCCACACCCATACACACA CACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCCACCACACA CCCATACACACACACCCACACACACACCACACCCATACACACACATAACC CCACACCCCCACACACACCCTCCCTCACACACACCCCCACCACACACCCA TACACACCCCAACCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0003 a0017c0035t0003	a0017c0035t0003g0148 a0017c0035t0003g0148	1	248	0.0040	714	c.387 others(733): Show c.3871-3761_3871-3760insGGGTTGGGGTGTGTATGGGTGTGTGG TGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGGGGTTATGTGTG TGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGTGTGTGGTGGG GATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTATGG GTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAGGGTG TGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGT GTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGGGAG GGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGTGTGGTGGGTGTGT GGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGGTGTGT GGTGGGGGGGGTGGGAGGGTGTGGGTGTGTGTGTGTATTAGTATGTGGGG GTGTGTGGTGGGGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGG TGGGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTAT GTGGGTGTGTGGGGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGT GGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGCTGTGTGTGGGGGTGT GGGGGTCTGGTGTGTGTATGGGTGTGTGGGTGTGTGGG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025442	A A	ACCCACAC others(707): Show ACCCACACACCCACACACCCATACACACACCAGACCCCCACACCCCCACA CACAGCCACACCCCCACACCCATACACACACACCCACCCACCCACACCCA CACCCACCACACACACCCACACCCCCCCCACACACCCACATACCCCCACC ACACACCCACACACCCCCTCACACACACACCCACACCCACCACACACCCC CACCACACACCCACATACACCCACACCCCCACCACACACCCCCACATACT AATACACACACACACCCACACCCTCCCACCCCCCCCACCACACACCAATA CACACCCACACACCCCCTCACACACACACCCACACACCCACACACCCACC ACACACCCATACATACACACCCCCACACCCCCTCACACCCTCCCCCCACT CACCCATACACAACCCCCACCACACCCCCACACCCATACACACACACACC CCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCC CCACACACCCATACACACACCCCCACCACACCCCCACACCCATACACACA CACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCCCCACCACACA CCCATACACACACACCCACACACACACCACACCCATACACACACATACCC CCACACCCCCACACACACCCTCCCTCACACACACCCCCACCACACACCCA TACACACCCCAATCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp2 HG03579.hp1 others(1): Show HG02970.hp1 HG03139.hp2 HG03579.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0023 a0001c0040 others(1): Show a0001c0003 a0001c0023 a0001c0040 a0002c0004	a0001c0003t0003 a0001c0023t0003 a0001c0040t0003 others(1): Show a0001c0003t0003 a0001c0023t0003 a0001c0040t0003 a0002c0004t0003	a0001c0003t0003g0135 a0001c0023t0003g0073 a0001c0040t0003g0124 others(1): Show a0001c0003t0003g0135 a0001c0023t0003g0073 a0001c0040t0003g0124 a0002c0004t0003g0056	4	248	0.0161	714	c.387 others(733): Show c.3871-3761_3871-3760insGGATTGGGGTGTGTATGGGTGTGTGG TGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGTGGGGGTATGTGTG TGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGTGTGTGGTGGG GATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGTGTGTGTATGG GTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTGTGTGGGGGGGAGGGTG TGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGGGTGTGTGTGT GTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTGGGGGGAG GGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGTGTGGTGGGTGTGT GGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTATTGGTGTGT GGTGGGGGGGGTGGGAGGGTGTGGGTGTGTGTGTGTATTAGTATGTGGGG GTGTGTGGTGGGGGTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGG TGGGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTAT GTGGGTGTGTGGGGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGT GGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGCTGTGTGTGGGGGTGT GGGGGTCTGGTGTGTGTATGGGTGTGTGGGTGTGTGGG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADGRA1_chr10_133082924_133136675	133111492	A A	ACCAGACA others(707): Show ACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCC TCCTAATGCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGA CAACCTGCCCACCACGGACACCTCCCTCCTAATGCCTCCAGACAACCTGC CCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACG GACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAA TCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCA GACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCT GCCCACCACGGACACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCA CGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGACACC TCCCTCCTAATCCCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0277 a0001c0001t0010g0277	1	368	0.0027	714	c.401 others(731): Show c.401+8670_401+8671insGGGCACCTCCCTCCTAATCCCTCCAGAC CACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATGCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAAT CCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACGGACACCTCCCTCCTAATGCCTCCAGACAACCTG CCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCAC GGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACC ACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCCACCACGGACAC CTCCCTCCTAATCCCTCCAGACAACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111557	A A	ACACCTCC others(707): Show ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACC ACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACAC CTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCT CCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACAGG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0328 a0001c0001t0029g0328	1	368	0.0027	714	c.401 others(731): Show c.401+8749_401+8750insGCCACAGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCC TCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGA CACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111597	G G	GGGCACCT others(707): Show GGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACC TGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACC ACGGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCC TAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCA CCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA CCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGC ACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCT CCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGAC CACCTGCCCACCACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0325 a0001c0001t0020g0325	1	368	0.0027	714	c.401 others(731): Show c.401+8756_401+8757insGCACCTCCCTCCTAATCCCTCCAGACCA CCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCA CCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGAC ACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCT CCTAATGCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCC CTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGAC CACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCC CACCACAGGCACCTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGG GCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAG ACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTG CCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111641	A A	ACACCTCC others(707): Show ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAAT CCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGACACCTCCCTCCTA ATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCC AGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCC TAATCCCACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCA CCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAA CCTGCCCACCACAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	368	0.0027	714	c.401 others(731): Show c.401+8833_401+8834insACCACAGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACAAC CTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCAC CACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCC TCCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATCCCTCCAGACA ACCTGCCCACCACGGGCACCTCCCTCCTAATGCCTCCAGACAACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCCCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACA GGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111870	T T	TCCAGACC others(707): Show TCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACA ACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCC ACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGA CACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATC CCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGA CAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGC CCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACA GACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCTC CCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTAA TCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACC TCCCTCCTAATCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0091 a0001c0001t0080g0091	1	368	0.0027	714	c.401 others(731): Show c.401+9048_401+9049insGGGCACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCC CACCACGGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAG ACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC AGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACGGGCACCT CCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGACACCTCCCTCCTA ATCCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACC TGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(707): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCACTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATCCATATACCCACCCACCCAT TCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCC AGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCA CCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0033 a0009c0011t0033	a0009c0011t0033g0077 a0009c0011t0033g0077	1	262	0.0038	714	c.775 others(729): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGG TGGGTATATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGG GTAGGTAAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGG ATGGATGAATGGGTGGGTGGATGGATGAGTGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGA ATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAAT GGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGA ATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGT GGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAA TGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTG GATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AHRR_chr5_316714_443285	415308	T T	TGGGAGGC others(707): Show TGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGC CGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAACCTGCCTGGT CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTG GTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCT AGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCC TGGTCGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGC CTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAG GCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATC TGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGG AGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAG TCTCCCTGGTCGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0002 a0003c0004t0004g0002	2	268	0.0075	714	c.441 others(731): Show c.441+1893_441+1894insGTCTGCCTGGTCGGGTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAACCTGCCT GGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCC TAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCT GCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGT GGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415633	A A	ATCTGCCT others(707): Show ATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGC GGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCC GAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGG GCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCGGAGTCTGCCTGGTG GGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGG GGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCGGAGTCTGCCTGG TCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCT GGTCGGGTGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCC TAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGG CCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT GCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGA GGCCTAGGGGCGGAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	268	0.0037	714	c.441 others(731): Show c.441+2264_441+2265insCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCC TGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCGGAGTCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAG GCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCGGAGTC TGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGG AGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAG TCTGCCTGGTCGGGTGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCG GGAGGCCTAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCG AATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGG TGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGC CGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCG GGTGGGAGGCCTAGGGGCGGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
BRF1_chr14_105204286_105306001	105229625	C C	CAGTCGCC others(707): Show CAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCCGTGGCACCCT CAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCACTGTCCG CGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCACC CTCAGGAGCAACAACCCAGCATCTCAGGAGAGAGAGGCCACACCACTGTC CGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGGCA CCCTCAGGAGCAACAACCCAGCATCTCAGGAGAGAGAGGCCACACCACTG TCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGTGG CACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCAC TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGT GGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCCCC GTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCC CCGTGGCACCCTCAGGAGCAACAACCCAGCATCTCAGGAGAGAGAGGCCA CACCACTGTCCGCGT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	72	0.0139	714	c.695 others(729): Show c.695-713_695-712insACGCGGACAGTGGTGTGGCCTCTCTCTCCT GAGATGCTGGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTC CTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTG TCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGC TGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTC TCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAG GCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTC TCTCTCCTGAGATGCTGGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCC AGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCC TCTCTCTCCTGAGATGCTGGGTTGTTGCTCCTGAGGGTGCCACGGGGCTG CCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGG CCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGC TGTCAGGCTGTCCCCCGCCCCCAGCTGGGCGACT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105239557	T T	TGTGGCAC others(707): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGACAGCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	72	0.0139	714	c.694 others(731): Show c.694+1707_694+1708insGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCC TGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGT CCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCT CCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240271	T T	TGTGGCAC others(707): Show TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGA GAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGA CAGCCTGGCAGCCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	72	0.0139	714	c.694 others(729): Show c.694+993_694+994insGGGGCTGCCAGGCTGTCCCCCGCCCCCAGC TGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGG TTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCCCA GCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTA GGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCCC CAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGC TAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCC CCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCC TGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
CACNA1C_chr12_2047987_2702950	2520218	G G	GAGGAGGG others(707): Show GAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTC AGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTT CAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTG TGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGT GTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCG TGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCC GTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGC CGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGG CCGTGTGCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATG GCCGTGTGCTTCATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAAT GGCCGTGTGCTTCAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG02723.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0018 a0002c0040 a0001c0018 a0002c0040	a0001c0018t0042 a0002c0040t0016 a0001c0018t0042 a0002c0040t0016	a0001c0018t0042g0083 a0002c0040t0016g0073 a0001c0018t0042g0083 a0002c0040t0016g0073	2	104	0.0192	714	c.139 others(733): Show c.1390+7469_1390+7470insCCAATGGCCGTGTGCTTCAGAGGAGG GAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGAG GGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGGA GGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAGG AGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGAG GAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAGA GGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCTTCAG AGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTCA GAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTTC ATAGGAGGGAAGCCATGACAGTCTTCTCATTGACCAATGGCCGTGTGCTT CATAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGCT TCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTGC TTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGTG CTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGCCCAATGGCCGTGT GCTTCAGAGGAGGGAAGCCATGACAGTCTTCTCATTGC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CEACAM16_chr19_44694151_44715718	44709410	C C	CGGGAGCT others(707): Show CGGGAGCTCCCAGAGGCAGGGACCATGTCTCCTTCATCAGACTGGGAGCT CCCAGAGTCAGGGTCTATGTCTCCTTCATCAGACTGGGAGCTCCCAGAGG CAGAGACCACGTCTCCTTCATCAGACTGGGAGCTCCCAGAGGCATGGTCC ATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGTCTATGTCTCC TCCATCAGACTGGGAGCTCCCAGAGTCAGGGACCATGTCTCCTCCATCAG ACTGGGAGCTCCCAGAGTCAGGGACCATGTCTCCTCCATCAGACTGGGAG CTCCCAGAGTCAGGGAGCATGTCTCCTCCATCAGACTGGGAGCTCCCAGA GTCAGGGACCATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGT CTATGTCTCCTCCATCAGACCGGGAGCTCCCAGAGGCAGGGACCATGTCT CCTTCATCAGACTGGGAGCTCCCAGAGTCAGGGTCTATGTCTCCTTCATC AGACTGGGAGCTCCCAGAGGCAGAGACCACGTCTCCTTCATCAGACTGGG AGCTCCCAGAGGCATGGTCCATGTCTCCTCCATCAGACTGGGAGCTCCCA GAGTCAGGGTCTATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGG GACCATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGAGCATGT CTCCTCCATCAGACT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG03098.hp2 others(4): Show HG02257.hp1 HG02572.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0150 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0002t0001g0144	7	450	0.0156	714	c.126 others(733): Show c.1268-1072_1268-1071insGCAGGGACCATGTCTCCTTCATCAGA CTGGGAGCTCCCAGAGTCAGGGTCTATGTCTCCTTCATCAGACTGGGAGC TCCCAGAGGCAGAGACCACGTCTCCTTCATCAGACTGGGAGCTCCCAGAG GCATGGTCCATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGTC TATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGACCATGTCTC CTCCATCAGACTGGGAGCTCCCAGAGTCAGGGACCATGTCTCCTCCATCA GACTGGGAGCTCCCAGAGTCAGGGAGCATGTCTCCTCCATCAGACTGGGA GCTCCCAGAGTCAGGGACCATGTCTCCTCCATCAGACTGGGAGCTCCCAG AGTCAGGGTCTATGTCTCCTCCATCAGACCGGGAGCTCCCAGAGGCAGGG ACCATGTCTCCTTCATCAGACTGGGAGCTCCCAGAGTCAGGGTCTATGTC TCCTTCATCAGACTGGGAGCTCCCAGAGGCAGAGACCACGTCTCCTTCAT CAGACTGGGAGCTCCCAGAGGCATGGTCCATGTCTCCTCCATCAGACTGG GAGCTCCCAGAGTCAGGGTCTATGTCTCCTCCATCAGACTGGGAGCTCCC AGAGTCAGGGACCATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAG GGAGCATGTCTCCTCCATCAGACTGGGAGCTCCCAGAG	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF2_chr10_11012872_11341675	11284413	C C	CTGTGGTG others(707): Show CTGTGGTGGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGA GTGCGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGGGATGAGGGATG AGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGGA TGGAGGGGTGGGTGGACGATGGATGAGTGTGTGGTAGGTGGACGATGGAT GAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGATGG ATAAGTGTCTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGAT GGATGGAGGGGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGATGATG GATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGA CGGATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGGAT GATGGATGAGTGTGTGGTGAGTGGATGAGGGATGAGTGTGTGGTGGGTGG ATGATGGATGGAGGAGTGGGTGGATGATGGATGACTGTGTGGTAGGTGGA TGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTG GATGAGGGATGAGTGCGTGGTGGGTGGGTGAGGGATGAGTGTGTGGTGGG TGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGGTGGG TGGATGAGGGATGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02280.hp1 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0047 a0001c0002t0002 a0001c0004t0047	a0001c0002t0002g0011 a0001c0004t0047g0156 a0001c0002t0002g0011 a0001c0004t0047g0156	2	194	0.0103	714	c.842 others(731): Show c.842-4001_842-4000insGTGGGTGGATGATGGATGAGTGTGTGGT GGGTGGATGAGGGATGAGTGCGTGGTGGGTGGATGAGGGATGAGTGTGTG GTGGGGGATGAGGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGT GGTGGGTGGATGATGGATGGAGGGGTGGGTGGACGATGGATGAGTGTGTG GTAGGTGGACGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTG TGGTGGGTGGATGATGGATAAGTGTCTGGTGAGTGGATGAGGGATGAGTG TGTGGTGGGTGGATGATGGATGGAGGGGTGGGTGGATGATGGATGACTGT GTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGATGAGT GTGTGGTGGGTGGATGACGGATGAGTGTGTGGTGAGTGGATGAGGGATGA GTGTGTGGTGGGTGGATGATGGATGAGTGTGTGGTGAGTGGATGAGGGAT GAGTGTGTGGTGGGTGGATGATGGATGGAGGAGTGGGTGGATGATGGATG ACTGTGTGGTAGGTGGATGATGGATGAGTGTGTGGTGGGTGGATGAGGGA TGAGTGCGTGGTGGGTGGATGAGGGATGAGTGCGTGGTGGGTGGGTGAGG GATGAGTGTGTGGTGGGTGGATGAGGGATGAGTGTGTGGTGGGTGGATGA GGGATGAGTGTGGTGGGTGGATGAGGGATGAGTGTG	CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP46_chr10_132803392_132947570	132822630	T T	TGTGTGCT others(707): Show TGTGTGCTGTCTGTGCGCTGTGTGCTGTGTGAGCGCTGATGTGTGCTGTG TGTGCTGTGTGCTGTGTGTGCAGTGATGTGTGTTGTGTGAGTGCTGATGT GTGCTGTGTGTGCGCTGATGTGTGCTGTGTGCGCTTGTGTGTGCTGTGTG TGCGCTGATGTGTGCTGTGTGTGCGCTTGTGTGTGCTGTGTGTGCTGATG TGTGCTGTGTGAGTGCTGATGTGTGCTGATGTGTGCTGTGTGTGCTGATG TGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCTGT GTGTGCACTTGTGTGTGCTGTGTGTGTGCTGATGTGTGCTGTGTGCTGTG TGTGCTGATGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGCTGATG TGTGCTGTGTGCGGTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGT GAGTGCTGGTGTGCTGATGTGTGCACTGTGTGCTGTGTGTGTGGTGATGT GTGCTGTGTGTGTGGTGATGTGTGCTGTGTGTGCAGTGATGTGTGCTGTG TGTGTGCTGATGTGTGCTGATGTGTGCACTGTATGCTGTGTGTGTGGTGA TGTGTGCTGTGTGTGCAGTGATGTGTGCTGTGTGAGTGCTGATGTGTGCT GTGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGCTGATGTGTGCTGACGT GTGCTGTGTGCTGAC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0001 a0003c0012t0002g0001	2	246	0.0081	714	c.711 others(733): Show c.7118-7717_7118-7716insGTCAGCACACAGCACACGTCAGCACA CATCAGCACACAGCACACATCAGCACACACAGCACACACAGCACACATCA GCACTCACACAGCACACATCACTGCACACACAGCACACATCACCACACAC ACAGCATACAGTGCACACATCAGCACACATCAGCACACACACAGCACACA TCACTGCACACACAGCACACATCACCACACACACAGCACACATCACCACA CACACAGCACACAGTGCACACATCAGCACACCAGCACTCACACAGCACAC ATCAGCGCACACACAGCACACATCACCGCACACAGCACACATCAGCACAC ACACAGCACACAGTGCACACATCAGCACACATCAGCACACACAGCACACA GCACACATCAGCACACACACAGCACACACAAGTGCACACACAGCACACAT CAGCACTCACACAGCACACATCACTGCACACACAGCACACATCAGCACAC ACAGCACACATCAGCACACATCAGCACTCACACAGCACACATCAGCACAC ACAGCACACACAAGCGCACACACAGCACACATCAGCGCACACACAGCACA CACAAGCGCACACAGCACACATCAGCGCACACACAGCACACATCAGCACT CACACAACACACATCACTGCACACACAGCACACAGCACACACAGCACACA TCAGCGCTCACACAGCACACAGCGCACAGACAGCACAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(707): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0062 a0003c0005t0002g0062	1	236	0.0042	714	c.342 others(733): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89647606	A A	AGACCCAG others(707): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGCAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGCAAAGGCCGCCGACGTGGACACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAA GGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	392	0.0026	714	c.253 others(729): Show c.253-276_253-275insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCA CGTCGGCGGCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTGCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTC TCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTC GGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648404	G G	GGACCCAG others(707): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CGGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGGGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGTGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGT GGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAA GGCCGCCGACGTGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	392	0.0026	714	c.252 others(729): Show c.252+946_252+947insTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCCCGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTC CCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTC GGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(707): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGGAGCT GGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAG GGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGG GAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAA GAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	168	0.0060	714	c.-26 others(723): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCCTCCTCCCCCCT CCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCC CCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTC CCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCC TCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCC CCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361434	A A	AGGGGGGA others(707): Show AGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGAGGG GGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGGAGGGGGGAGGAGGGGGGAGCTGGGGGGGGGAGGAGGGGGAGCTGG GGAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGG AGGGGGGAGGAGGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGG GGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGGAGCAGGGGGAGGGG GAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGGGGGGAG GAGGGGGAGCTGGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAG GGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGG GGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAGAGGAG GGGGGGAGGAGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0094 a0001c0004t0021g0094	1	168	0.0060	714	c.-27 others(723): Show c.-270_-269insCCTCCTCCTCCCCCCCTCCTCTTCTCCCCCCTCCAC TGCTCCCCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGC TCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCC CCCTCCTCCCCCTCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCC CTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCCTGCTCCCCCCT CCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTC CCCTCCCCAGCTCCCCCCTCCTCCCCCCTCCCCTGCTCCCCCCTCCTCCC CCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC CCCAGCTCCCCCCTCCTCCCCCCTCCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCCTGCTCCCCT CCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCT CCCCCCCCCTGCTCCCCCTCCTCCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		86		chr20	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(707): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGGGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAG GGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGG AGGGGGAGGGGAAGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGG GAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0203 a0001c0001t0010g0203	1	216	0.0046	714	c.923 others(733): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCTTCCCCTCCCCCTCCCCTTCCCCT TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCC CTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTC CCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCACTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTC CCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
EML1_chr14_99788413_99947060	99928068	G G	GTGGTGAT others(707): Show GTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0083 a0002c0001t0002g0083	1	288	0.0035	714	c.190 others(733): Show c.1909+7196_1909+7197insATGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGAGGTGGTGGT GGTGGTGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(707): Show TTGTGTGTGTATGGTGTGTGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTATG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGGTGCGTGTGTGGAGTGTGTGTGTATTGTTGTG TGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTG TGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTA TTGTTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTG TGTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTT TATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGT GTGTATAGTACGGTG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	376	0.0027	714	c.497 others(731): Show c.497+9876_497+9877insTATGTAGTGTGTGGTGTGTGTATATTTG TATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGT GGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGT GTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATAT GGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGG GGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTT GTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTA TGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGT GCGTGTGTATGATGTGTGTGGTGCGTGTGTGGAGTGTGTGTGTATTGTTG TGTGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTG TGTGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTG TATTGTTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTG TGTGTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTG TTTATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGT GTGTGTATAGTACGGTGTGTGTGTGTATGGTGTGTG	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRA5_chr15_26862062_26954208	26893414	T T	TTGTGTGT others(707): Show TTGTGTGTGTATGGTGTGTGTATGTAGTGTGTGGTGTGTGTATATTTGTA TGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGTGG TGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGTGT ATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATATGG TGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGGGG GCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTTGT GTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTATG GTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGTGC GTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTGTG TGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTG TGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTA TTGTTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTGTG TGTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTGTT TATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGTGT GTGTATAGTACGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02258.hp1 HG02280.hp1 others(17): Show HG00408.hp1 HG02258.hp1 HG02280.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03486.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18951.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18977.hp1 NA18989.hp1 NA19007.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0006t0005	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0105 others(17): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0213 a0001c0001t0001g0243 a0001c0001t0001g0313 a0001c0002t0001g0051 a0001c0002t0001g0071 a0001c0002t0001g0227 a0001c0002t0001g0283 a0001c0002t0001g0331 a0001c0003t0001g0066 a0001c0003t0001g0150 a0001c0003t0001g0239 a0001c0003t0008g0009 a0001c0004t0001g0240 a0001c0006t0005g0015	20	376	0.0532	714	c.497 others(731): Show c.497+9876_497+9877insTATGTAGTGTGTGGTGTGTGTATATTTG TATGTGTGGCGCGTGTGTGTACAGCGTGTGTGTGCGTGTGTGGTGTATGT GGTGCATATGGTGTATGTGTATAGTGTGTGGTGTGTGTGCATAGTTGTGT GTATATGGTGTGTGGTGTGTGTGTATATGGTGTGTGGTGTGTGTGTATAT GGTGTGTTGTGTGTGTATGGTGTGTTGTGTGTATGGTGTGGTGTGTGTGG GGGCTATATGGGGTGTGTGTGTATGCTGTGGTGTATGTGTATGGTGTGTT GTGTGCATGGTGTGTGTATGTAGTGTGGTGTGTGTGTATATGTGTGTGTA TGGTGTGTAGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTGTGTGTGGT GCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTGTATTGTTG TGTGTATATGGTGTGTGGCGTGTGTGTATAGTGTGTGTGCATGTGTGGTG TGTGTGGTGCGTGTGTATGATGTGTGTGTATAGTGTGTGGAGTGTGTGTG TATTGTTGTGTGTATATGGTGTGTGGCGTGTGTGTATGGTATGTGGTGTG TGTGTATGGTGTGTGTGTGTGCATGCGGTGTGTATAGTATGTGGCGTGTG TTTATAGTTGTGTGTATATGGTGTGTGGCGTGTGTGCATAAGGTGTGTGT GTGTGTATAGTACGGTGTGTGTGTGTATGGTGTGTG	GABRA5	ENSG00000186297.12	transcript	ENST00000335625.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(707): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATATTTATATTTACA AATATATATATTTATATATATATTTATATTTATATATATTTATATTTATA TATATATATATAAATATATATTTATGTATATTTATATATAAATATAAATA TATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0136 a0001c0001t0031g0136	1	208	0.0048	714	c.-97 others(731): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATATATAAATATATATATTTATATATATAAATATATATATATTTAT ATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTAT ATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAAT ATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(707): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATTTATATATATATATAAATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATTTATATT TATATATTTATATTTATATATATAAATATATATATTTATATTTATTTATA TATATAAATATATATATTAATATATATTTATATATATAAATATATATATT TATATATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATATTTATATTTACA AATATATATATTTATATATATATTTATATTTATATATATTTATATTTATA TATATATATATAAATATATATTTATGTATATTTATATATAAATATAAATA TATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0205 a0001c0001t0032g0205	1	208	0.0048	714	c.-97 others(731): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATTTATATATATATATAAATATATAT ATTTATATATATATATAAATATATATATTTATATTTATTTATATATATAA ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT TTATATTTATATATTTATATTTATATATATAAATATATATATTTATATTT ATTTATATATATAAATATATATATTAATATATATTTATATATATAAATAT ATATATTTATATATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATATATAAATATATATATTTATATATATAAATATATATATATTTAT ATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTAT ATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAAT ATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(707): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATA TAAATATATATATTTATATTTATATATATATATAAATATATATATTTATA TATATATATAAATATATATATTTATATTTATTTATATATATAAATATATA TATTTATATTTATTTATATATATATAAATATATATATTTATATTTATATT TATATATTTATATTTATATATATAAATATATATATTTATATTTATTTATA TATATAAATATATATATTAATATATATTTATATATATAAATATATATATT TATATATAAATATATATTTATGTATATTTATATATAAATATATATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATAAATATATATATTTATATATAAATATATATATTTATATATA TATTTATATATAAATATATATATTTATATATAAATATATATATTTATATA TATAAATATATATATTTATATATATAAATATATATATATTTATATTTACA AATATATATATTTATATATATATTTATATTTATATATATTTATATTTATA TATATATATATAAATATATATTTATGTATATTTATATATAAATATAAATA TATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19012.hp1 HG01346.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0156 a0001c0001t0001g0131 a0001c0001t0001g0156	2	208	0.0096	714	c.-97 others(731): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATTT ATATATATAAATATATATATTTATATTTATATATATATATAAATATATAT ATTTATATATATATATAAATATATATATTTATATTTATTTATATATATAA ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT TTATATTTATATATTTATATTTATATATATAAATATATATATTTATATTT ATTTATATATATAAATATATATATTAATATATATTTATATATATAAATAT ATATATTTATATATAAATATATATTTATGTATATTTATATATAAATATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATAAATATATATATTTATATATAAATATATATATTT ATATATATATTTATATATAAATATATATATTTATATATAAATATATATAT TTATATATATAAATATATATATTTATATATATAAATATATATATATTTAT ATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTAT ATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAAT ATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01993.hp2 HG02040.hp2 others(4): Show HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02300.hp2 HG04115.hp1 HG04204.hp2 NA18952.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0026 a0037 a0078	a0001c0001 a0003c0003 a0004c0129 others(3): Show a0001c0001 a0003c0003 a0004c0129 a0026c0019 a0037c0134 a0078c0048	a0001c0001t0002 a0003c0003t0001 a0004c0129t0044 others(3): Show a0001c0001t0002 a0003c0003t0001 a0004c0129t0044 a0026c0019t0003 a0037c0134t0010 a0078c0048t0003	a0001c0001t0002g0231 a0003c0003t0001g0229 a0004c0129t0044g0090 others(3): Show a0001c0001t0002g0231 a0003c0003t0001g0229 a0004c0129t0044g0090 a0026c0019t0003g0021 a0037c0134t0010g0230 a0078c0048t0003g0228	7	390	0.0180	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCCGC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0001 a0033 a0001 a0033	a0001c0001 a0033c0034 a0001c0001 a0033c0034	a0001c0001t0008 a0033c0034t0002 a0001c0001t0008 a0033c0034t0002	a0001c0001t0008g0167 a0033c0034t0002g0168 a0001c0001t0008g0167 a0033c0034t0002g0168	2	390	0.0051	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCC ACCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC CGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	390	0.0026	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02148.hp1 HG03710.hp1 others(1): Show HG01496.hp1 HG02148.hp1 HG03710.hp1 HG03831.hp2	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0012 a0003c0003t0086 a0003c0012t0001 a0003c0003t0012 a0003c0003t0086 a0003c0012t0001	a0003c0003t0012g0022 a0003c0003t0086g0234 a0003c0012t0001g0233 a0003c0003t0012g0022 a0003c0003t0086g0234 a0003c0012t0001g0233	4	390	0.0103	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCACTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0054 a0054	a0054c0072 a0054c0072	a0054c0072t0001 a0054c0072t0001	a0054c0072t0001g0239 a0054c0072t0001g0239	1	390	0.0026	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(88): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp1 HG02109.hp2 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03516.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 NA18948.hp1 NA18953.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18969.hp1 NA18994.hp1 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(22): Show a0001 a0003 a0004 a0007 a0013 a0014 a0017 a0022 a0023 a0024 a0031 a0034 a0048 a0049 a0051 a0053 a0055 a0056 a0059 a0060 a0069 a0079 a0085 a0086 a0092	a0001c0001 a0001c0006 a0001c0060 others(32): Show a0001c0001 a0001c0006 a0001c0060 a0003c0003 a0003c0012 a0003c0013 a0003c0025 a0003c0044 a0003c0077 a0003c0079 a0004c0127 a0007c0010 a0007c0059 a0007c0090 a0013c0017 a0014c0016 a0017c0040 a0022c0024 a0023c0020 a0024c0023 a0031c0036 a0034c0136 a0048c0046 a0049c0081 a0051c0070 a0053c0075 a0055c0073 a0056c0076 a0059c0071 a0060c0045 a0069c0062 a0079c0084 a0085c0121 a0086c0123 a0092c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(65): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019 a0001c0001t0023 a0001c0001t0040 a0001c0001t0048 a0001c0001t0079 a0001c0001t0092 a0001c0001t0100 a0001c0006t0003 a0001c0006t0008 a0001c0006t0010 a0001c0060t0008 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0009 a0003c0003t0012 a0003c0003t0014 a0003c0003t0024 a0003c0003t0042 a0003c0003t0071 a0003c0012t0001 a0003c0012t0008 a0003c0012t0012 a0003c0013t0003 a0003c0025t0001 a0003c0025t0002 a0003c0044t0010 a0003c0077t0084 a0003c0079t0001 a0004c0127t0110 a0007c0010t0003 a0007c0010t0004 a0007c0010t0010 a0007c0010t0097 a0007c0059t0037 a0007c0090t0037 a0013c0017t0035 a0013c0017t0076 a0014c0016t0009 a0017c0040t0002 a0022c0024t0004 a0023c0020t0003 a0023c0020t0096 a0024c0023t0002 a0024c0023t0012 a0031c0036t0002 a0031c0036t0036 a0034c0136t0001 a0048c0046t0001 a0049c0081t0001 a0051c0070t0001 a0053c0075t0012 a0055c0073t0024 a0056c0076t0001 a0059c0071t0073 a0060c0045t0001 a0069c0062t0009 a0079c0084t0003 a0085c0121t0024 a0086c0123t0074 a0092c0043t0003	a0001c0001t0002g0080 a0001c0001t0003g0259 a0001c0001t0004g0196 others(81): Show a0001c0001t0002g0080 a0001c0001t0003g0259 a0001c0001t0004g0196 a0001c0001t0008g0016 a0001c0001t0010g0183 a0001c0001t0014g0220 a0001c0001t0019g0020 a0001c0001t0023g0019 a0001c0001t0040g0086 a0001c0001t0048g0089 a0001c0001t0079g0195 a0001c0001t0092g0053 a0001c0001t0100g0227 a0001c0006t0003g0057 a0001c0006t0003g0180 a0001c0006t0003g0181 a0001c0006t0003g0194 a0001c0006t0008g0173 a0001c0006t0008g0178 a0001c0006t0008g0192 a0001c0006t0010g0040 a0001c0006t0010g0193 a0001c0060t0008g0191 a0003c0003t0001g0005 a0003c0003t0001g0179 a0003c0003t0001g0213 a0003c0003t0002g0056 a0003c0003t0002g0203 a0003c0003t0002g0210 a0003c0003t0002g0347 a0003c0003t0003g0212 a0003c0003t0004g0074 a0003c0003t0004g0110 a0003c0003t0004g0206 a0003c0003t0004g0207 a0003c0003t0009g0208 a0003c0003t0012g0224 a0003c0003t0014g0209 a0003c0003t0024g0211 a0003c0003t0024g0223 a0003c0003t0042g0087 a0003c0003t0071g0058 a0003c0012t0001g0202 a0003c0012t0008g0221 a0003c0012t0012g0054 a0003c0013t0003g0055 a0003c0025t0001g0205 a0003c0025t0002g0222 a0003c0044t0010g0184 a0003c0077t0084g0215 a0003c0079t0001g0216 a0004c0127t0110g0255 a0007c0010t0003g0189 a0007c0010t0003g0190 a0007c0010t0004g0187 a0007c0010t0010g0018 a0007c0010t0097g0188 a0007c0059t0037g0176 a0007c0090t0037g0174 a0013c0017t0035g0017 a0013c0017t0076g0186 a0014c0016t0009g0182 a0017c0040t0002g0059 a0022c0024t0004g0200 a0023c0020t0003g0109 a0023c0020t0096g0108 a0024c0023t0002g0107 a0024c0023t0012g0197 a0031c0036t0002g0219 a0031c0036t0036g0226 a0034c0136t0001g0252 a0048c0046t0001g0175 a0049c0081t0001g0225 a0051c0070t0001g0199 a0053c0075t0012g0344 a0055c0073t0024g0204 a0056c0076t0001g0214 a0059c0071t0073g0201 a0060c0045t0001g0185 a0069c0062t0009g0198 a0079c0084t0003g0260 a0085c0121t0024g0217 a0086c0123t0074g0218 a0092c0043t0003g0052	91	390	0.2333	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0002 a0017c0040t0002	a0017c0040t0002g0251 a0017c0040t0002g0251	1	390	0.0026	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCAC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCTCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19056.hp2 NA18954.hp2 NA19056.hp2	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0009 a0014c0016t0023 a0014c0016t0009 a0014c0016t0023	a0014c0016t0009g0160 a0014c0016t0023g0159 a0014c0016t0009g0160 a0014c0016t0023g0159	2	390	0.0051	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGAGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63571726	A A	AAGCTCCT others(707): Show AAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCTC CAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCTGCT CCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGC TCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCCTA CTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCC GCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGCCC TGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCCTGCC CCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCTGC CCTACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTCCTG CCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCTCCT GCCCTGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGCTCC TGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTGTGGTGGGCTC CTGCCCCACTCCAAGCTCCTGGGAACCTCTGGCTCTGCCTACGGTGGGCT CCTGCCCCGCTCCAAGCTCCTGGGAGCCTCTGGCTCTGCCTGTGGTGGGC TCCTGCCCCGCTCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02280.hp1 HG02451.hp1 others(7): Show HG01069.hp1 HG02280.hp1 HG02451.hp1 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03471.hp2 NA18967.hp1 NA19240.hp2	a0001 a0003 a0010 others(3): Show a0001 a0003 a0010 a0016 a0035 a0071	a0001c0001 a0003c0003 a0010c0021 others(5): Show a0001c0001 a0003c0003 a0010c0021 a0010c0056 a0010c0082 a0016c0120 a0035c0135 a0071c0055	a0001c0001t0004 a0003c0003t0001 a0010c0021t0001 others(6): Show a0001c0001t0004 a0003c0003t0001 a0010c0021t0001 a0010c0021t0003 a0010c0056t0069 a0010c0082t0004 a0016c0120t0091 a0035c0135t0112 a0071c0055t0113	a0001c0001t0004g0161 a0003c0003t0001g0164 a0003c0003t0001g0343 others(7): Show a0001c0001t0004g0161 a0003c0003t0001g0164 a0003c0003t0001g0343 a0010c0021t0001g0162 a0010c0021t0003g0163 a0010c0056t0069g0106 a0010c0082t0004g0165 a0016c0120t0091g0166 a0035c0135t0112g0257 a0071c0055t0113g0256	10	390	0.0256	714	c.278 others(729): Show c.278+381_278+382insGGGAGCGGGGCAGGAGCCCACCACAGGCAG AGCCAGAGGCTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCGTAGGCA GAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGC AGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGG CAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAG GCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACA GGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCACCGT AGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTGGGGCAGGAGCCCACCA CAGGCAGAGCCAGAGGCTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC GTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCAC CACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGTAGGGCAGGAGCCCA CCGTAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCC ACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCC CACCACAGGCAGAGCCAGAGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGC CCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(707): Show TCTACCACCACCATCACCACCACCACTACCACCACCACCACCACCACCAC CACCACTACCACCTCTACCACCTCTACCACCACCACCACCACTACCACCT CTACCACCACCATCATCACCACCACCACTACCACCTCTACCACCACCATC ACCACCACCACTACCACCACCACCACCACCACCACCACCACTACCACCAC TACCACCTCTACCACCACCATCACCACCACCACCACTACCACCTCTACCA CCACCATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACC ACCACCACCACCACCTCTACCACCACCATCACTACTACCACCACCACCAC CTCTACCACCATCGCTACCATCACCACCACCACCACTATCACCGCCACCA TCGCTACCATCACCACCACCACCACTATCACCGCCACCACCACCAATACC ACTACCACCACCATCACTACCACCACCACCACCATCACCACCTCTACCAT CGCTACCATCACCACCACCACCACTACCATCATCACCACTACCACCATCA CCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCCACCACC ACCATCACCACCACCACCACCACCACCTCTACCACCACCATCACTACTAC CACCACCACCACCTCTACCACCATCGCTACCATCACCACCACCACCACTA TCACCGCCACCATCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0004 a0001c0001t0078g0004	1	134	0.0075	714	c.520 others(735): Show c.5208-20044_5208-20043insCGATGGTGGCGGTGATAGTGGTGG TGGTGGTGATGGTAGCGATGGTGGTAGAGGTGGTGGTGGTGGTAGTAGTG ATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGA GGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGG TAGTGGTGATGATGGTAGTGGTGGTGGTGGTGATGGTAGCGATGGTAGAG GTGGTGATGGTGGTGGTGGTGGTAGTGATGGTGGTGGTAGTGGTATTGGT GGTGGTGGCGGTGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGCGG TGATAGTGGTGGTGGTGGTGATGGTAGCGATGGTGGTAGAGGTGGTGGTG GTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGG TGGTAGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTA GTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGT GGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAG TGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTG GTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399225	A A	ACCACCGC others(707): Show ACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCATCACCATCACCATCACCGCCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACC ACCACCACCGCCACCACCACCACCATCACCGCCACCACCACCATCACCAC CATCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCG CCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCATCATCACCATCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCA CCACCATCACCATCATCACCACCACCACCACCACCACCACCATCACCATC ACCACCACCACCACCACCACCATCACCGCCACCACCATCACCATCATCAC CACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCA CCACCACCATCACCG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	314	0.0032	714	c.-25 others(731): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCA CCACCACCATCACCACCATCATCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCATCATCACCATCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCACCATCACCATCACCACCACCACCACCACCACCATCACCGCCACCA CCATCACCATCATCACCACCACCACCACCACCACCACCGCCACCACCACC ACCATCACCGCCACCACCACCACCATCACCGCCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(707): Show ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATATATAATATATATTATATTATATATAATATATTTTATATAATATATA ATATATATTATATTATATATAATATATTTTATATAATATATAATATATAT TATATTATATATAATATATTTTATATAATATATAATATATATTATATTAT ATATAATATATTTTATATAATATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATTTTATATAATATA TAATATATATTATATTATATATAATATATTTTATATAATATATAATATAT ATTATATTATATATAATATATTTTATATAATATATAATATATATTATATT ATATATAATATATTTTATATAATATATAATATATATTATATTATATATAT TATATATAAAATATAATATATATTATATTATATATAATATATTTTATATA ATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	314	0.0032	714	c.661 others(731): Show c.661+7230_661+7231insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATTTTATATATAATATATATAATAT AATATATATTATATATTATATAAAATATATTATATATAATATAATATATA TTATATATTATATAAAATATATTATATATAATATAATATATATTATATAT TATATAAAATATATTATATATAATATAATATATATTATATATTATATAAA ATATATTATATATAATATAATATATATTATATATTATATAAAATATATTA TATATAATATAATATATATTATATATTATATAAAATATATTATATATAAT ATAATATATATTATATATTATATAAAATATATTATATATAATATAATATA TATTATATATTATATAAAATATATTATATATAATATAATATATATTATAT ATTATATAAAATATATTATATATAATATAATATATATTATATATTATATA AAATATATTATATATAATATAATATATATTATATATTATATAAAATATAT TATATATAATATAATATATATTATATATTATATAAAATATATTATATATA ATATAATATATATTATATATTATATAAAATATATTATATATAATATAATA TATATTATATATTATATAAAATATATTATATATAATATAATATATATTAT ATATTATATAAAATATATTATATATAATATAATATA	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(707): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	308	0.0033	714	c.127 others(733): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(707): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGG GGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGG GGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0347 a0003c0004t0005g0347	1	375	0.0027	714	c.-22 others(725): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGA ATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATC TGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997264	G G	GCGGGGGA others(707): Show GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGG ACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGG GAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGCGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	375	0.0027	714	c.-22 others(725): Show c.-2205_-2204insCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGATGGGGGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGA GATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGCGA	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		406		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(707): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	375	0.0027	714	c.-20 others(725): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
KIF26A_chr14_104133587_104185894	104153575	C C	CGAGGTGC others(707): Show CGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGC CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCATGAG GTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCC TGGCCCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCA GAGCTGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAA CCCCACCCTTGCCAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp2 HG02723.hp1 HG02970.hp2	a0003 a0008 a0003 a0008	a0003c0035 a0008c0037 a0003c0035 a0008c0037	a0003c0035t0007 a0008c0037t0009 a0003c0035t0007 a0008c0037t0009	a0003c0035t0007g0353 a0008c0037t0009g0351 a0003c0035t0007g0353 a0008c0037t0009g0351	2	374	0.0054	714	c.735 others(731): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCG AACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCAC CCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCA CGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGC CGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(707): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAG GTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCT CCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0038 a0038	a0038c0034 a0038c0034	a0038c0034t0009 a0038c0034t0009	a0038c0034t0009g0352 a0038c0034t0009g0352	1	374	0.0027	714	c.735 others(731): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCG AACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCAC CCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCA CGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGC CGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF26A_chr14_104133587_104185894	104153599	C C	CGAACCCC others(707): Show CGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGC CACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGT GCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTG GCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGA GCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACC CCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTT GCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAG GTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCC TGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCA GAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATG AGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGTGCCT CCTGGCCCCAGAGCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0036 a0001c0042t0001g0036	1	374	0.0027	714	c.735 others(731): Show c.735+1155_735+1156insCGAGGTGCCTCCTGGCCCCAGAGCCGAA CCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCC TTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACG AGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCT CCTGGCCCCAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCC CAGAGCCGGACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCG GACCCCACCCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCAC CCTTGCCACGAGGTGCCTCCTGGCCCCAGAGCCGGACCCCACCCTTGCCA CGAGGTGCCTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGC CTCCTGGCCCCAGAGCCGAACCCCACCCTTGCCACGAGGTGCCTCCTGGC CCCAGAGCCGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGC CGAACCCCACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCCGAACCCC ACCCTTGCCATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGC CATGAGGTGCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCATGAGGT GCCTCCTGGCCCCAGAGCTGAACCCCACCCTTGCCA	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 8931 hits)