Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AKAP17A_chrX_1586604_1607520	1587718	C C	CTCCCCTC others(605): Show CTCCCCTCTCCTCCCCCCTTCCCCTCCCCTCTCCTCCCCCTTCCCCTCCC CTCCCCCTTCCCCTCCCCTCTCCTCCCCACTTCCCCTCCCCTCTCCTCCC CCCTTCCCCTCCCTCTCCTCTCCTCCCCCCTTCCCCTGCCCTCTCCTCCC CCGCTCTTCCCCTGCCCTCTTCCTCCCCCCCTTCCCCTCCCCTCTCCTCC CTTCCTTTCCCCTCCTCTTCCATTCCCTTCTTTCCTCCCATCCCCTCCTC CCTTCCCCTCCCTTCCCTTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCTC CCTTCCCCTGCCCTCCCCTCCCTCCCCTTCCTTCTCCTCCCCTCCCCTCC TTCCCCTCCCCCCTCCCCTTTCCTCTGCTCCCTTCCCCTCCCCTCTCCTC CCCCCTTCCCCGCCCCTTCCCTTCCCTTCTTTCCTCCCATCCCCTCCTCC CCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCCTTTCCCCCTCCCCTC CTTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTTTCCCTCCCCCTCCCCTC CTCTCCCTTCCCCTCCCCTCCTCTCCCTTCCCCTCCCTTCCCCTCCCCTC CCCTCCCCTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	151	0.0066	612	c.-40 others(623): Show c.-4071_-4070insTCCCCTCTCCTCCCCCCTTCCCCTCCCCTCTCCT CCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCTCCTCCCCACTTCCC CTCCCCTCTCCTCCCCCCTTCCCCTCCCTCTCCTCTCCTCCCCCCTTCCC CTGCCCTCTCCTCCCCCGCTCTTCCCCTGCCCTCTTCCTCCCCCCCTTCC CCTCCCCTCTCCTCCCTTCCTTTCCCCTCCTCTTCCATTCCCTTCTTTCC TCCCATCCCCTCCTCCCTTCCCCTCCCTTCCCTTCCCTTCCCCTCCCTTC CCCTCCCTTCCCCTCCCTTCCCCTGCCCTCCCCTCCCTCCCCTTCCTTCT CCTCCCCTCCCCTCCTTCCCCTCCCCCCTCCCCTTTCCTCTGCTCCCTTC CCCTCCCCTCTCCTCCCCCCTTCCCCGCCCCTTCCCTTCCCTTCTTTCCT CCCATCCCCTCCTCCCCTCCCTTCCCCTCCCCTCCCTTCCCCTCCCCTCC TTTCCCCCTCCCCTCCTTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTTTC CCTCCCCCTCCCCTCCTCTCCCTTCCCCTCCCCTCCTCTCCCTTCCCCTC CCTTCCCCTCCCCTCCCCTCCCCTCCTT	AKAP17A	ENSG00000197976.12	transcript	ENST00000313871.9	protein_coding		3885		chrX	TogoVar
ANO9_chr11_412938_447011	431498	C C	CCCGTGGG others(605): Show CCCGTGGGTATCTGGGGGGGGCATCTGCGGGGGGTGTGGGGGCGTCCGCG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGTCTCCCCGTGGGTATCTGG GGGCGTCTGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCTTCCG TGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTACCGCAGGGGTGT GGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCC GTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCT GGGGGCTTCCGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGT GTGGGGGCGTCCGCGGGTATCTGGGGGGCGTCTGCGGGGGTGTAGGGGCT CCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGG GGTGTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	286	0.0035	612	c.539 others(627): Show c.539+195_539+196insACGCCCCCACACCCCTGCAGAAGCCCCCAG ATACCCGCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGG GACGCCCCCACACCCCCGCAGACGCCCCCCAGATACCCACGGGAGCCCCC ACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGC AGACGCCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGACGCCCC CAGATACCCGCGGGAGCCCCCACACCCCCCGCAGACGCCCCCAGATACCC GCGGGAGCCCCCACACCCCCCGCGGAAGCCCCCAGATACCCGCAGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCC CGCGGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGTAGCC CCCAGATACCCGCGGACGCCCCCCACACCCCCACGGAAGCCCCCAGATAC CCGCGGGAGCCCCCACACCCCCCGCAGACGCCCCCAGATACCCACGGGGA GACCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCCCGCAGATGCCCCCCCCAGATACCCACGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(605): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGG CAAGGAGGCAGGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	334	0.0030	612	c.838 others(627): Show c.838-693_838-692insCCCTGCCTCCTTGCCTTCCCCTCCCTCTCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349903	C C	CAGGGGAA others(605): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAAG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	334	0.0030	612	c.838 others(627): Show c.838-707_838-706insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCTTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350015	G G	GGAAGGCA others(605): Show GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGA GAGGGAGGGGAAGGCAAGGAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	334	0.0030	612	c.838 others(627): Show c.838-819_838-818insTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
APOOL_chrX_84998877_85098315	85088046	G G	GTATTTAT others(605): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACATATACAT ATTTATACATATATATGTATAAATACGTACATATTTATACATATATGTAT AAATACATATACATATTTATACATATATGTATAAATACATATACATATTT ATACATATATGTATAAATACATATACATATTTATACATATATGTATAAAT ACATATACATATATGTATAAATACATATACATATTTATACATATATGTAT AAATACATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0083 a0001c0001t0067g0083	1	256	0.0039	612	c.39 others(621): Show c.393_*394insGTATTAATACATATATGTATAAATACGTATTAATAC ATATATGTATAAATACATACATATTTATACATATATGTATACATACATAT TTATACATATATATGTATAAATACATACATATTTATACATATATATGTAT AAATACATACATATTTATACATATATATGTATAAATACATACATATTTAT ACATATATATGTATAAATACGTACATATTTATACATATATATGTATAAAT ACGTACATATTTATACATATATATGTATAAATACGTACATATTTATACAT ATATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGT ACATATTTATACATATATATGTATAAATACATATACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATACATATACATATTTATACATATATGT ATAAATACATATACATATTTATACATATATGTATAAATACATATACATAT ATGTATAAATACATATACATATTTATACATATATGTATAAATACATATAC ATATTTATACATATATGTATAAATAC	APOOL	ENSG00000155008.16	transcript	ENST00000373173.7	protein_coding	9/9	394	INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1825077	T T	TCCACCTG others(605): Show TCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCA CCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGT TCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCAC CCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTC CCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCC ACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCC GCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCT GTCCCCCCGCACC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0327	1	363	0.0028	612	c.-48 others(627): Show c.-48+996_-48+997insTGCACCCCACCTGTTCACCTGCACCCCACC TGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCCGCACCCCACCTGTTCACCTGCACCCC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCT GCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTG TCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTC CCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCA CCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCG CACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACTCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP9B_chr18_79064394_79383283	79309293	G G	GTGATCCC others(605): Show GTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGTAGTGATCCTCCGCAG GTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GTGGAGGAGTGATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAG GAGTGATCCCCAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGC AGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGA TCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAG AAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGG AGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCA GCAGGTAGAAGGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTC AGGGGCTGAGGAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0101 a0001c0004t0003g0101	1	298	0.0034	612	c.177 others(631): Show c.1773+2092_1773+2093insTAGTGATCCTCCGCAGGTAGAAGGTC AGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGT GATCTCCAGCAGGTAGAAGGTCAGGGGTTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATCCC CAGCAGGTAGAAGGTCAGGGATGGAGGAGTGATCCCCAGCAGGTAGAAGG TCAGGGGTTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGA CTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAGGAGTGATCCCCAGCAG GTAGAAGGTCAGGGGCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGG GCGGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCGGAGGAGTGATC CCCAGCAGGTAGAAGGTCAGGGGTGGAGGAGTGATCCCCAGCAGGTAGAA GGTCAGAGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG GACTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	82972300	T T	TGACCACA others(605): Show TGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCA CACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGG ATAGAAGGACCCAGTACTGACCACACCACACCACAGGGGCTAGAAGGACC TGGTGCCGACCACAGCACACCACAGGGGCCAGAAGGACCTGGTGCTGACC ACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAT GGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGG ACCTGGTACTGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCGAC ACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACA GGGGATAGAAGGACCTGGTACTGACCACACCACACCACGGGCCAGAAGGA CCTGGTGCCGACACACCACACCATGGGCCAGAAGGACCTGGTGCCGACCA CACCACACTCATAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCA CAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAGA AGGACCTGGTGCC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG03130.hp2 HG00621.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0011 a0001c0007t0005 a0001c0001t0011 a0001c0007t0005	a0001c0001t0011g0067 a0001c0007t0005g0234 a0001c0001t0011g0067 a0001c0007t0005g0234	2	266	0.0075	612	c.460 others(629): Show c.460-6555_460-6554insGGCACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTATGAGTGTGGTGTGGTCGGCACCAGGT CCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCCTTCTGGCCCGTG GTGTGGTGTGGTCAGTACCAGGTCCTTCTATCCCCTGTGGTGTGGTGTGG TCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTCGGCACCAGGTCC TTCTGGCCCATGGTGTGGTGTGGTCAGTACCAGGTCCTTCTAGCCCCTGT GGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGTC GGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGCACCAGGTC CTTCTGGCCCCTGTGGTGTGCTGTGGTCGGCACCAGGTCCTTCTAGCCCC TGTGGTGTGGTGTGGTCAGTACTGGGTCCTTCTATCCCCTGTGGTGTGGT GTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BLM_chr15_90712346_90821166	90799120	A A	ACGCCACT others(605): Show ACGCCACTGCACTCCAGCCTGGCAACAGAGCAAGACTCCGTCTCAAAAAA AAAAAAAAGAAAAATAGAAAACGTGCCCACAAAAGAACTGCATAGAATGC CTGGAATTGACTGAAGAACAAAAATAAATGAAGTGATTGCCTAAAGAGTA GAAGGGCCGCTGAATTAGGGGTCGGAGCCCCTAAGTGGCATTTGGCAACT GCCCGGCCTACCTAAAGTCTGGTCCCACCTACTTGCCCTAAAGCAAACCT GACAATTAAATATCCCCATTCAGGGAAGGAATTCGGGAGGACGTAAATCT AGATAGAAAATAACAGAAGAAACCCACCTAAAAAGTTTTACCTAGTCCCT GAAAGTTACATAGAAATGAACGGTAAAGGCTGAGCTTGGTAGTTCACGCC TGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAAG AGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACCAAAAA TACAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAG TGAGCCGAGGTCG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18960.hp2 NA19057.hp2 NA18949.hp1 NA18960.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0187 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0187	3	280	0.0107	612	c.335 others(629): Show c.3358+812_3358+813insCAAGACTCCGTCTCAAAAAAAAAAAAAA GAAAAATAGAAAACGTGCCCACAAAAGAACTGCATAGAATGCCTGGAATT GACTGAAGAACAAAAATAAATGAAGTGATTGCCTAAAGAGTAGAAGGGCC GCTGAATTAGGGGTCGGAGCCCCTAAGTGGCATTTGGCAACTGCCCGGCC TACCTAAAGTCTGGTCCCACCTACTTGCCCTAAAGCAAACCTGACAATTA AATATCCCCATTCAGGGAAGGAATTCGGGAGGACGTAAATCTAGATAGAA AATAACAGAAGAAACCCACCTAAAAAGTTTTACCTAGTCCCTGAAAGTTA CATAGAAATGAACGGTAAAGGCTGAGCTTGGTAGTTCACGCCTGTAATCC CAGCACTTTGGGAGGCCAAGGCGGGTGGATCACAAGGTCAAGAGATCGAG ACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACCAAAAATACAAAAA TTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGA GGTCGCGCCACTGCACTCCAGCCTGGCAACAGAG	BLM	ENSG00000197299.13	transcript	ENST00000355112.8	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr15	TogoVar
BOK_chr2_241553745_241579131	241570448	G G	GTCTGAGC others(605): Show GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGA GAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTG AGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAG GTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTG GGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGGTGG GTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACA GACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGG GTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAGTGGCGGA TGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGG GGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGC GGATGGGTGAGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0187 a0001c0001t0007g0187	1	434	0.0023	612	c.513 others(627): Show c.513+172_513+173insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTA CAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCGCCTGGGG GGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGG ATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACAGGAGGGAGTGGTGGATGGGTGAGTGTCTGAGCGCCTGT GGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGG CGGGTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGA GGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCC TGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGAGGTACGGGAGGGAG TGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGT GCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAG CGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGG GAGTGGCGGATGGGTGAGCCTCTGAGCGCCTG	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
BRF1_chr14_105204286_105306001	105232065	T T	TGTCCGCG others(605): Show TGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCGT GGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACC ACTGTCCGCGTAGTCGCCCAGCTGGCGGCGGGGGACAGCCTGACAGCCCC GTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACA CCACGGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGCC CCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCA CACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAG CCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGC CACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGAC AGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAG GCCACACCACGGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTG GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	72	0.0139	612	c.695 others(629): Show c.695-3153_695-3152insCGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACCGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCC CCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCT GAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTC CCCCGCCCCCAGCTGGGCGACTACGCGGACCGTGGTGTGGCCTCTCTCTC CTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTG TCCCCCGCCGCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTC TCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGC TGTCCCCCGCCCCCAGCTGGGCGACTACGCGGAC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105237981	G G	GTCCGCGT others(605): Show GTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCTGTG GCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACACCA CTATCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCCCG TGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCACAC CACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGCCC TGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGG CAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	72	0.0139	612	c.694 others(629): Show c.694+3283_694+3284insTAGTGGTGTGGCCTCTCTCTCCTGAGAT GCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCG CCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAG ATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCC CGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTG AGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCC CCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCC TGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGT CCCCCGCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCT CCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCT GTCCCCCGCCCCCAGCTGGGCGACTACGCGGATAGTGGTGTGGCCTCTCT CTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGG CTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGA	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105238020	G G	GCAGCCCC others(605): Show GCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAG AGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCC TGACAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAG AGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAG CCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAG AGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGAC AGCCTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGG AGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGG ACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCA GGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGG GGACAGCCTGACAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCT CAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCG GGGGACAGCCTGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	72	0.0139	612	c.694 others(629): Show c.694+3244_694+3245insTCAGGCTGTCCCCCGCCCCCAGCTGGGC GACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTT GCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105240883	T T	CGTGGCAC others(605): Show CGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCCAC ACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGACAGC CCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGGCC ACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGGCA GCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGAGG CCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCTGA CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCAGCCCTGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGA GAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACA GCCTGACAGCCCT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	72	0.0139	612	c.694 others(627): Show c.694+382_694+383insGGGCTGTCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCCAG CTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAG GTTGTTGCTCCTGAGGGTGCCACAGGGCTGCCAGGCTGTCCCCCGCCCCC AGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCT AGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGTCAGGCTGTCCCCCGCCC CCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATG CTAGGTTGTTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGC CCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGA TGCTAGGTTGTTGCTCCTGAGGGTGCCACAGGGCTGTCAGGCTGTCCCCC GCCCCCAGCTGGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGA GATGCTAGGTTGTTGCTCCTGAGGGTGCCACG	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(605): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03017.hp1 HG03942.hp2 HG01346.hp2 HG03017.hp1 HG03942.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0007 a0008c0009t0008 a0008c0009t0007 a0008c0009t0008	a0008c0009t0007g0163 a0008c0009t0007g0171 a0008c0009t0008g0253 a0008c0009t0007g0163 a0008c0009t0007g0171 a0008c0009t0008g0253	3	338	0.0089	612	c.300 others(629): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(605): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGG TCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGA CGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGA CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGA CGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAG TAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGG TGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAG TAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAG TAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0069 a0002c0002t0018g0069	1	338	0.0030	612	c.300 others(629): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCG GGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGG GGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGG CGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAC GGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTAT GGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGT GTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	85818864	C C	CAAGGTTC others(605): Show CAAGGTTCTCGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGA CCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCT GCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATA GCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAA GAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATG ATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGTAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18906.hp2 HG02257.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0042 a0001c0003t0006 a0001c0003t0042	a0001c0003t0006g0028 a0001c0003t0042g0109 a0001c0003t0006g0028 a0001c0003t0042g0109	2	146	0.0137	612	c.238 others(631): Show c.238+16677_238+16678insGGCGATTCCTCAGGGATCTAGAACTA GAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGA GTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGG CACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATG ATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGC AGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAAT TGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACAC CGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACA CAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGG GGGAGGGATAGTATTGGGAGATATACCTAATGCTAGATGACACATTAGTG GGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCAC AATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTTCTC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(605): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAG GGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGAAGAAG GGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGT GGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGT GCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGT GGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp2 NA19043.hp2 HG02258.hp1 NA18522.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168 a0001c0002t0003g0087 a0001c0002t0003g0090 a0001c0002t0003g0168	3	284	0.0106	612	c.712 others(629): Show c.712-2416_712-2415insCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCTTCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCC TTCCCCCACCCTACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCA CCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACC CCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCA GCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGA GTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136802807	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCAGGGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	398	0.0025	612	c.666 others(625): Show c.666+88_666+89insCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCAGGGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802807	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	398	0.0025	612	c.666 others(625): Show c.666+88_666+89insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0336 a0001c0001t0002g0336	1	398	0.0025	612	c.666 others(627): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136802952	C C	CCCAGGGC others(605): Show CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	398	0.0025	612	c.666 others(627): Show c.666+224_666+225insCGGGGGCCCTCCAGGGCGGGCTCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803214	T T	TGGGGGCC others(605): Show TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0034 a0001c0009t0002g0034	1	398	0.0025	612	c.666 others(627): Show c.666+495_666+496insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CD5_chr11_61097489_61132852	61099971	A A	ATCACATT others(605): Show ATCACATTCACACACATCAACATGGAGATCACACACACACATCAACATGG AGATCACACACACACGACATGGAGATCACACACACACAACATGGAGATCA CACACACACAACATGGAGATCACACACACACATCAACATGGAGATCACAC ACACATCAACATGGAGATCACATTCGCACACATCAACATGGAGATCACAC ACACACATCAACATGGAGATTCACACATATCAACATGGAGATCACATTCA CACACATCAACATGGAGATCACATTCACACACATCAACATGGAGATCACA AACACACATCAACATGGAGATCAAATTCACACATCAACATGGAGATTACA CACACATCAACATGGAGATCACATTCACACACATCAACATGGAGATCACA TTCACAACACAAACATGGAGATCACACACACATATATCAAATGGGGATTA CACACACATCAACCCCAACATGGAGATCACACACACAGCACAGAGATCAC ACATGTCAACATGGAGATCATACACACACATCAACATGGAGATCACACAC ACATCAACATGGAGATCACACACACATCAACATGGAGATCACACACACTC GTCAACATGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	244	0.0041	612	c.-25 others(623): Show c.-2590_-2589insTCACATTCACACACATCAACATGGAGATCACACA CACACATCAACATGGAGATCACACACACACGACATGGAGATCACACACAC ACAACATGGAGATCACACACACACAACATGGAGATCACACACACACATCA ACATGGAGATCACACACACATCAACATGGAGATCACATTCGCACACATCA ACATGGAGATCACACACACACATCAACATGGAGATTCACACATATCAACA TGGAGATCACATTCACACACATCAACATGGAGATCACATTCACACACATC AACATGGAGATCACAAACACACATCAACATGGAGATCAAATTCACACATC AACATGGAGATTACACACACATCAACATGGAGATCACATTCACACACATC AACATGGAGATCACATTCACAACACAAACATGGAGATCACACACACATAT ATCAAATGGGGATTACACACACATCAACCCCAACATGGAGATCACACACA CAGCACAGAGATCACACATGTCAACATGGAGATCATACACACACATCAAC ATGGAGATCACACACACATCAACATGGAGATCACACACACATCAACATGG AGATCACACACACTCGTCAACATGGAGG	CD5	ENSG00000110448.11	transcript	ENST00000347785.8	protein_coding		2517		chr11	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(605): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCC TCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	256	0.0039	612	c.-45 others(633): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(605): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	334	0.0030	612	c.-25 others(623): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCAATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CFAP46_chr10_132803392_132947570	132888639	G G	GCACCCCT others(605): Show GCACCCCTGCCACCTGCACCCCTGCCACCTTCACCCCTGCCGCCTTCACC CCTGCCACCTTCACCCCTGCCACCTGCACCCCTGCCACCTTCACCCCTGC CGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTC ACCCCTGCCACCTTCACCCCTGCCACCTGCACCCCTGCCACCTTCACCCC TGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACC TGCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACCC CTGCCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGCCGC CTTCACCCCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCACC CCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCGCCTTCACCCCTGC CGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACCTTC ACCCCTGCCGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTG CCGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCTGCCACCTTCA CCCCTGCCACCTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0012 a0012	a0012c0076 a0012c0076	a0012c0076t0001 a0012c0076t0001	a0012c0076t0001g0131 a0012c0076t0001g0131	1	246	0.0041	612	c.330 others(631): Show c.3305-2681_3305-2680insAAGGTGGCAGGGGTGAAGGTGGCAGG TGCAGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGT GGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGG GTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGG CGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCA GGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGAAGGCGGCAGGGGTGA AGGCGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGGC AGGTGCAGGCGGCAGGGGTGAAGGTGGCAGGGGTGCAGGTGGCAGGGGTG AAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGGTGG CAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGTGGCAGGG GTGAAGGTGGCAGGGGTGAAGGTGGCAGGTGCAGGCGGCAGGGGTGAAGG TGGCAGGGGTGCAGGTGGCAGGGGTGAAGGTGGCAGGGGTGAAGGCGGCA GGGGTGAAGGTGGCAGGGGTGCAGGTGGCAGGGGTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(605): Show CTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCA TCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCT CCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGC TCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCACCAGCG CTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGC GCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAG CGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCC AGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGC CAGCGCTCCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	287	0.0035	612	c.34 others(623): Show c.3495_*3496insTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCC TCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCC CTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACC CCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCAC CCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCA CCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGC ACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCG CACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCC GCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCC CGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGC CCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGG CCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGG GCCTGCACCCCTCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CFD_chr19_854664_868641	866733	C C	CTCCTCCC others(605): Show CTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCCCA TCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCCCTCGCCAGCGCTCCC ATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTCC CATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCTC CCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCAGCGCT CCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCGCCAGCGC TCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGCACCCCTCACCAGCG CTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCCGCACCCCTCGCCAGC GCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAG CGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCCTCGCCA GCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCC AGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGC CAGCGCTCCCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	287	0.0035	612	c.34 others(623): Show c.3495_*3496insTCCTCCCCGTCCACCCGCCGCGGGCCCGCACCCC TCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACCGCGGGCCCGCACCC CTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCACC CCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCCCGCAC CCCTCGCCAGCGCTCCCATCTCCTCCCCGTCCACCCGCCGCGGGCCCGCA CCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCGC ACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTCCACCCACTGCGGGCCCG CACCCCTCACCAGCGCTCCCATCTCCTCTCCGTCCGCCCACTGCGGGCCC GCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGCC TGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGGC CCGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGGG CCTGCACCCCTCGCCAGCGCTCCCATGTCCTCCCCGTCCACCCGCCGCGG GCCTGCACCCCTCGCCAGCGCTCCCATG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		3093		chr19	TogoVar
CNTN4_chr3_2093866_3062959	2841849	G G	GTAGGATC others(605): Show GTAGGATCTAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTTTAA GAAAGCTTTTTTTTTTATTATTATTATACTCTAAGTTTTAGGGTACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG CTGCACCCACCAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC CTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA ATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATG GTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTT TATGGCTGTATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCC AGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTG AATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGA TTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATG GTATTTCTAGTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03486.hp2 HG02486.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0003 a0001c0024t0015 a0001c0001t0003 a0001c0024t0015	a0001c0001t0003g0008 a0001c0024t0015g0057 a0001c0001t0003g0008 a0001c0024t0015g0057	2	116	0.0172	612	c.454 others(631): Show c.454+22284_454+22285insTTTTTTTTTTTTTTTTTTTTTTTTTA TGTTTAAGAAAGCTTTTTTTTTTATTATTATTATACTCTAAGTTTTAGGG TACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGC TGGTGCGCTGCACCCACCAACGTGTCATCTAGCATTAGGTATATCTCCCA ATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGA TATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATG AGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAG AATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCAT CATTTTTTATGGCTGTATAGTATTCCATGGTGTATATGTGCCACATTTTC TTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGC TATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGC AGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGG TCAAATGGTATTTCTAGTTCTAGGATCTAATCTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978386	T T	TTATATAT others(605): Show TTATATATATTTATTTATATATTTATATATTTATATATATATATTTATAT ATTTATATATATTTATATATATATTTATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATATTTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	94	0.0106	612	c.-2+ others(629): Show c.-2+56180_-2+56181insTAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATAAATATATATATAAATATATATAAATATATATAAATATA TAAATATATATATAAATATATATAAATATATATAAATATATAAATATATA TATAAATATATATAAATATATATAAATATATAAATATATATATAAATATA TATAAATATATATAAATATATAAATATATATATAAATATATATAAATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TATAAATATATAAATATATAAATAAATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CRLF2_chrX_1185490_1217649	1198275	C C	CGAAGGCA others(605): Show CGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTAGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGAC ACCCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	167	0.0060	612	c.646 others(627): Show c.646+286_646+287insTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG GAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCT GCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC CTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(605): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCTCCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGG ATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAG CACCCACCCACCCCCTCCCACAGCCGGATCCGAGGACGGCACCCACCCAC CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCA CAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCC CAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACC CACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGA TCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGC ACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0020 a0001c0001t0010g0020	1	88	0.0114	612	c.86- others(629): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGG GGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGA TCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGG AGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGT CCTCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(605): Show CCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCACCACCTC CACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCA CCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCAT CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCAC CACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCACCTCCA CCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTTCACCAT CACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCACCACCA CCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0113 a0002c0008t0001g0113	1	256	0.0039	612	c.323 others(631): Show c.3234+1477_3234+1478insTCACCACCACCTCCACCATCACCACC ACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCATCACCAC CACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCATCACCTCCACCATCACCACCACCTCCACCATCACCACCACC ACCTCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCAT CACCATCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACTATCACCACCACCTCCACCATCACCACCACCA CCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACCTCCACC ATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCACCTCCTT CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP10_chr2_114437641_115850780	115438828	T T	TGGCTAAG others(605): Show TGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTC ATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTG TGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTA AGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAA GCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAAT AGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGG TCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGC TAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGG GAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGAT GGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCAC AGTGTGGAATAGC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0009 a0002c0001t0014g0009	1	56	0.0179	612	c.272 others(631): Show c.272-60647_272-60646insCGGCTAAGATGGTCATGGAAGCACAG TGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGC TAAGATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGG AAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGA ATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGAT GGTCATGGAAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCAC AGTGTGGAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTG GCTAAGATGGTCATGGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCAT GGGAGCACAGTGTGGAATAGTGGCTAAGATGGTCATGGGAGCACAGTGTG GAATAGTGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAGTGGCTAAG ATGGTCATGGAAGCACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGC ACAGTGTGGAATAGCGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAG CGGCTAAGATGGTCATGGAAGCACAGTGTGGAATAG	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(605): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTG GTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19074.hp2 HG00438.hp1 NA19074.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0053 a0003c0002t0001g0262 a0003c0002t0001g0053 a0003c0002t0001g0262	2	288	0.0069	612	c.190 others(631): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTPD2_chr9_137043107_137059061	137050042	G G	GCCGCCAC others(605): Show GCCGCCACCCGCCTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCT GTCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGA CAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAGCC ACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCCGCCTATCCCT ACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGT TCCCAGCCACCCGCCTGCCCCTACTCGCGACAAAGTTCCCAGCCACCCGC CTGCCCCTACTCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCAC GACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAAGTTCCCAG CCACCCGCCTGCCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCC CTACCCACGACAAAGTTCCCAGCCACCCGCCTGTCCCTACCCACGACAAA GTTCCCAGCCACCCGCCTGCCCTTACCCACGACAAAGTTCCCAGCCACCC GCCTGTCCCTACCCACGACAAAGTTCCCAGCCACCCGCCTGCCCTTACCC ACGACAAAGTTCC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0151 a0001c0002t0001g0151	1	400	0.0025	612	c.103 others(627): Show c.1030-54_1030-53insGGAACTTTGTCGTGGGTAAGGGCAGGCGGG TGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTGGGAACTTT GTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGA CAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCGGGTGGCTG GGAACTTTGTCGTGGGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTG GGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGGCG GGTGGCTGGGAACTTTGTCGTGAGTAGGGGCAGGCGGGTGGCTGGGAACT TTGTCGCGAGTAGGGGCAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGG GACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGATAGGCGGGTGGC TGGGAACTTTGTCGTGGGTAAGGGCAGGCGGGTGGCTGGGAACTTTGTCG TGGGTAGGGACAGGCGGGTGGCTGGGAACTTTGTCGTGGGTAGGGACAGG CGGGTGGCTGGGAACTTTGTCGTGAGTAGGGACAGGCGGGTGGCTGGGAA CTTTGTCGTGAGTAGGGGCAGGCGGGTGGCGG	ENTPD2	ENSG00000054179.12	transcript	ENST00000355097.7	protein_coding	6/8			chr9	TogoVar
ESYT2_chr7_158725997_158834509	158745155	A A	AGGCAAGC others(605): Show AGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCT ATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCT GGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAG GGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTC ACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAG GCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGG CATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAG ACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCAC ACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTC CTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAA GCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAA TGAGACAGGGTCG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18955.hp1 NA19005.hp1 NA18943.hp2 NA18955.hp1 NA19005.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0352 a0004c0005t0001g0357 a0004c0005t0001g0364 a0004c0005t0001g0352 a0004c0005t0001g0357 a0004c0005t0001g0364	3	370	0.0081	612	c.164 others(631): Show c.1645-1478_1645-1477insCGACCCTGTCTCATTAGATAGGTGAG TGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTG TCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCAT GCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGG CCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGG TGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGAC CCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGG TCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGC CGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCAGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
ESYT2_chr7_158725997_158834509	158745254	C C	CGGCTGTT others(605): Show CGGCTGTTCACACTCACCTATCTAATGAGACAGGGCCGGGCAAGCGGCAT GACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACA GGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACT CACCTATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTA GGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCG GCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGA GACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCA CACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCT CCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCA AGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTA ATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTG TTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAG GTCTCCTAGGCCG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0334 a0003c0003t0004g0334	1	370	0.0027	612	c.164 others(631): Show c.1645-1577_1645-1576insCGGCCTAGGAGACCTGGTCATGCCGC TTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAG GAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGT GTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGT CTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATG CCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGC CTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGT GAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACC CTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGT CATGCCGCTTGCCCGGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCC GGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCATTAGAT AGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCC GGCCCTGTCTCATTAGATAGGTGAGTGTGAACAGCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
EVC2_chr4_5557439_5713559	5706385	G G	GATAGATA others(605): Show GATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATA CATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGA TACATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATAGATACATAGATAGATAGATACATACATACATACATACATAGA TAGATACATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0021 a0021	a0021c0066 a0021c0066	a0021c0066t0001 a0021c0066t0001	a0021c0066t0001g0250 a0021c0066t0001g0250	1	292	0.0034	612	c.228 others(629): Show c.228+1900_228+1901insGTATCTATCTATCTATCTATCTATCTAT CTATCTATGTATCTATCTATCTATGTATGTATCTATCTATGTATGTATGT ATGTATGTATCTATCTATCTATGTATCTATCTATCTATCTATGTATGTAT GTATCTATCTATCTATCTATGTATCTATCTATGTATCTATCTATCTATCT ATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTATCTATGTAT CTATGTATCTATCTGTGTATGTATCTATCTATCTATGTATCTATCTATCT ATCTATGTATCTATCTATCTATCTATGTATCTATCTATCTGTCTATGTAT CTATCTATGTATGTATGTATCTATCTATGTATCTATCTATCTATCTATCT ATCTATGTATCTATCTATCTATGTATCTATCTATGTATGTATCTATCTAT CTATGTATCTATCTATGTATCTATCTATCTATCTATCTATCTATGTATCT ATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATGTATCTAT CTATGTATCTATCTATCTATCTATCTATGTATCTATCTATCTATCTATCT ATCTATGTATCTATGTATCTATCTAGCTATCTAT	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	1/21			chr4	TogoVar
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(605): Show GATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGATAGC TAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATACA TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGA TACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATACATACATACATACATAGA TAGATAGATAGATACATAGATAGATAGATAGATACATACATACATACATA CATACATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0038 a0002c0005t0001g0038	1	369	0.0027	612	c.-50 others(623): Show c.-5044_-5043insATAGATAGATAGATAGATAGATACATAGATACAT ACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAG ATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGAT AGATAGATACATACATAGATAGATACATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATAGATACATAGATAGATACATACATACATAGAT AGATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACAT AGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACAT ACATACATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAC ATACATACATACATACATACATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4863		chr4	TogoVar
EVC_chr4_5706201_5819305	5706385	G G	GATAGATA others(605): Show GATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATACATAGATAGATACATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATA CATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATACA TAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGA TACATAGATAGATACATAGATAGATAGATAGATACATACATACATAGATA GATAGATAGATACATAGATAGATAGATACATACATACATACATACATAGA TAGATACATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0033 a0033	a0033c0062 a0033c0062	a0033c0062t0001 a0033c0062t0001	a0033c0062t0001g0004 a0033c0062t0001g0004	1	369	0.0027	612	c.-49 others(623): Show c.-4996_-4995insATAGATAGCTAGATAGATACATAGATACATAGAT AGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAG ATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAG ATAGATAGATACATACATAGATAGATACATAGATAGATAGATACATAGAT AGATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAG ATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGAT AGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAC ATACATACATAGATAGATAGATAGATACATAGATAGATAGATACATACAT ACATACATACATAGATAGATACATACATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4815		chr4	TogoVar
FBXL16_chr16_687500_710801	707711	A A	ACCCTCCA others(605): Show ACCCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTC ACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCCAC CTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTCCACCTCTG TCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTGTGACCC ACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTCCACCTC TGTCACCAGCTGTGACCCACCTGCCCTCCACCTCTGTCACCAGCTGTGAC CCACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTACCCTCCACC TCTGTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTCACCAGCTGTG ACCCACCTGCCCTCCACCTCTGTCACCAGCTGTGACCCACCTACCCCCCA CCTCTGTCACCAGCTGTGACCCACCTACCCTCCACCTCTGTCACCAGCTG TGACCCACCTACCCCCCACCTCTGTCACCAGCTGTGACCCACCTGCCCTC CACCTCTGTCACCAGCTGTGACCCACCTACCCCCCACCTCTGTCACCAGC TGTGACCCACCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	372	0.0027	612	c.-22 others(623): Show c.-2215_-2214insCCGGTGGGTCACAGCTGGTGACAGAGGTGGGGGG TAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCT GGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAG GGTAGGTGGGTCACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAG CTGGTGACAGAGGTGGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGG GGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGTAGGTGGGTCAC AGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAGGT GGAGGGCAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGGTC ACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAGAG GTGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGAGGGCAGGTGGG TCACAGCTGGTGACAGAGGTGGGGGGTAGGTGGGTCACAGCTGGTGACAG AGGTGGAGGGTAGGTGGGTCACAGCTGGTGACAGAGGTGGGGGGTAGGTG GGTCACAGCTGGTGACAGAGGTGGAGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding		1911		chr16	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAA others(605): Show GTATATAAATATATATGTATGTATATTATATACATATAAATATATATGTA TATAATATATATGTATGTATATTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACAAACATATAAA TATATATATTTATATACATATAATACATATACATATATACATATAAATAT ATATTTATATATATAAATATATATATTTATATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATATACATATAAATATATATTTATATACATATAAATATATAATTATAT ACATATAAATATATATAATTATATACATATAAATATATATTTATATACAT ATAAATATATATTTATATACATATAAATATATATATTTATATACATATAA ATTTATATACATATAAATATATATATTTATATTTATATACATATAAATAT AAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0202 a0003c0003t0003g0217 a0003c0003t0003g0202 a0003c0003t0003g0217	2	292	0.0069	612	c.49 others(623): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATA TAAATATATATATTTATATGTATATAAATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATTTA TATGTATATAATTATATATATTTATATGTATATAATTATATATTTATATG TATATAAATATATATTTATATGTATATATATATAAATATATATATTTATA TATATATAAATATATATATATTTATATATATATAAATATATATATTTATA TATATATAAATATATATATTTATATATATAAATATATATATTTATATATA TAAATATATATATTTATATATATAAATATATATTTATATGTATATATGTA TATGTATTATATGTATATAAATATATATATTTATATGTTTGTAAATATAT ATTTATATGTATGTAAATATATATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATTTATATGTATATAAATATATATATTTATAT GTATATAATATACATACATATATATTATATACATATATATTTATATGTAT ATAATATACATACATATATATTTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
GALNS_chr16_88808734_88861947	88831223	C C	CGAGCACG others(605): Show CGAGCACGGGGAGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGAGCGTGGGGAGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGA GCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTGAGGCGGAG CACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCGGAGCACGGGGTGCGTGG GGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGACAGCGGTG AGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGG GTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGA GAGCGGTGAGGCG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0043 a0001c0004t0001g0043	1	404	0.0025	612	c.100 others(629): Show c.1002+774_1002+775insCGCCTCACCGCTCTCCTCCCCACGCACC CCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTC ACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTGTCCTCCC CACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGC TCCGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCT GTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCA CCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACG CTCCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGG CCTCACCGCTCTCCTCCCCACGCTCCCCGTGCTC	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88831751	G G	GAGCGGTG others(605): Show GAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCG AGCACGGGGTGCGTGGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGT GGGGGGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGG TGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACG GGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAG GAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGC CGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGC GTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGGGGAGAGC GGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCA CGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGG AGGAGAGCGGTGAGGCCGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAG GCGGAGCACGGGGTGCGTGGGGAGGAGAGCGGTGAGGCCGAGCACGGGGT GCGTGGGGAGGAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0217 a0001c0011t0002g0217	1	404	0.0025	612	c.100 others(629): Show c.1002+246_1002+247insGTCCTCCCCACGCACCCCGTGCTCGGCC TCACCGCTCTCCTCCCCACGCACCCCGTGCTCCGCCTCACCGCTCTCCTC CCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGT GCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCG CTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACG CACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGG CCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCC TCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCC GTGCTCGGCCTCACCGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCAC CGCTCTCCTCCCCACGCACCCCGTGCTCGGCCTCACCGCTCTCCTCCCCA CGCACCCCGTGCTCGGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTC GGCCTCACCGCTCTCCCCCCCACGCACCCCGTGCTCGGCCTCACCGCTCT CCCCCCCACGCACCCCGTGCTCGGCCTCACCGCT	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	9/13			chr16	TogoVar
GALNT9_chr12_132191372_132334589	132282204	A A	AGGAGGAA others(605): Show AGGAGGAATCAGCTCCACTACAGCAAGCCCAGGCCTGGGGGTCCCACATC CCACAGAGGAGGAATCAGCTCCACTGCAGCAAGGCCAGGCCTGGGGGTCC CCGATCCCACAGAGGAGGAATCAGCTCCACTGCAGCAAGCCCAGGCCTGG GGGTCCCTGATCCCACAGAGGAGGAATCAGCTCCACTACAGCAAGGCCAG GCCTGGGGGGTCCCCGATCCCACAGAGGAGGAATCAGCTCCACTACAGCA AGCCCAGGCCTGGGGGTCCCTGATCCCACAGAAGAGGAATCAGCTCCACT ACAGCAAGGCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGAATCAGC TCCACTACAGCAAGCCCAGGCCTGGGGGTCCCCGATCCCACAGAGGAGGA ATCAGCTCCACTACAGCAAGGCCAGGCCTGGGATCCCCGATCCCACAGAG GAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGGTCCCACATCCC ACAGAGGGGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGACCCAC ATCCCACAGAGGAGGAATCAGCTCCACTACAGCAAGGCCAGGCCTGGGGG TCCCACATCCCAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0012 a0001c0025t0012	a0001c0025t0012g0048 a0001c0025t0012g0048	1	183	0.0055	612	c.419 others(629): Show c.419+4045_419+4046insGTGGGATGTGGGACCCCCAGGCCTGGCC TTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATGTGGGTCCCCAGGCC TGGCCTTGCTGTAGTGGAGCTGATTCCCCCTCTGTGGGATGTGGGACCCC CAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGATCGGG GATCCCAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCCTCCTCTGTGGGA TCGGGGACCCCCAGGCCTGGGCTTGCTGTAGTGGAGCTGATTCCTCCTCT GTGGGATCGGGGACCCCCAGGCCTGGCCTTGCTGTAGTGGAGCTGATTCC TCTTCTGTGGGATCAGGGACCCCCAGGCCTGGGCTTGCTGTAGTGGAGCT GATTCCTCCTCTGTGGGATCGGGGACCCCCCAGGCCTGGCCTTGCTGTAG TGGAGCTGATTCCTCCTCTGTGGGATCAGGGACCCCCAGGCCTGGGCTTG CTGCAGTGGAGCTGATTCCTCCTCTGTGGGATCGGGGACCCCCAGGCCTG GCCTTGCTGCAGTGGAGCTGATTCCTCCTCTGTGGGATGTGGGACCCCCA GGCCTGGGCTTGCTGTAGTGGAGCTGATTCCTCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(605): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATTTATATATAAATATATATAAATATACATTTATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCACA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG00438.hp2 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0053 a0001c0003t0007 a0001c0003t0053	a0001c0003t0007g0043 a0001c0003t0053g0163 a0001c0003t0007g0043 a0001c0003t0053g0163	2	208	0.0096	612	c.-97 others(629): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTATT CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(605): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATTTATATATAAATATA TATAAATATACATTTATATATAAATATATATAAATATACATTTATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0086 a0001c0003t0012g0086	1	208	0.0048	612	c.-97 others(629): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATTTATATATAAATATATATAAA TATACATTTATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CACATATAAATATATATAAATATACATGTATATTTATTCACATATAAATA TATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)