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
TERT_chr5_1248167_1300068	1272751	A A	ACACATCA others(542): Show ACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCACCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCCA CAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACATCAGA CCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0186 a0002c0021t0001g0186	1	392	0.0026	549	c.228 others(566): Show c.2287-472_2287-471insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CAGGGGTT others(542): Show CAGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTATGGAGGCAGGG ATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGAT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGG CCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAG GGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	466	0.0022	549	c.49 others(560): Show c.4971_*4972insCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCC TCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTG GCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAATCCCT GCCTCCATAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CCGGGGTT others(542): Show CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCC AGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAG GGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAT GGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	466	0.0022	549	c.49 others(560): Show c.4971_*4972insCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTC CATAATCCCTGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCC AGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTA CCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCA GCCTCCCTAACCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930772	A A	AGGGGTTA others(542): Show AGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCTGGGATTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGACCGGGGTTAGGGAGGCCGGGGGT CAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTCAGGGAGGCCGGGTTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	466	0.0022	549	c.48 others(560): Show c.4818_*4819insCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAACCCGGCCTCCCTGA CCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCT CCCTAACCCCTGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTGACCCCCGGCCTCCCTAACCCCGGTCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTGACCCCTGGCCTCCCTAACCCCGG CCTCCCTAATCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAAC CCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4597		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(542): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATAAAAATTATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATAAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATATAAATTATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	272	0.0037	549	c.28 others(560): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATAAAAATTATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATAAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TATAAATTATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870128	A A	ACACCACA others(542): Show ACACCACACCCCATACACACCACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACACCCCCCCACACCACACCCCATA CACACCACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA CCCCCCACACACCACACCCCATACACACCACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACA CCACACCCCACACACACCACACACCCCCCACACACCACACACCATACACA CCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACCAC ACCCCACACACACCACACACCACACACACCACACCCCATACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	338	0.0030	549	c.35 others(568): Show c.35+21398_*35+21399insCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACACC CCCCCACACCACACCCCATACACACCACACACCACACCCCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCCCACACACCACACCCCATACACACCA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCCCACACACCACACCCCACACACACCACACACCCCCCA CACACCACACACCATACACACCACACCCCACACACACCACACCCCCCACA CACCACACCCCACACACCACACCCCACACACACCACACACCACACACACC ACACCCCATACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACCCCCCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UMODL1_chr21_42066317_42147996	42109038	G G	GACCCCAC others(542): Show GACCCCACCCCCGGCGTGGGAAGTTCATGTTGTACTCAGCTGGACCCCAC CCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCG TGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGT TCATGTTATACTCCGCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTAT ACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCT GGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCA CCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCGCG CGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCCGCGCGGGAAGT TCATGTTATACTCAGCTGGACCCCACCCCCTGCGCGGGAAGTTCATGTTG TACTCAGGCTGACCCCCACCCCCCCCACGAGAGAAGTCCATGTTATACTC AGGCGGATCCCCACTCCTGGCGTGTAAAGCTGGTGTTATGCTCAGCTGGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02055.hp1 others(3): Show HG01257.hp2 HG01258.hp1 HG02055.hp1 HG02135.hp1 NA18969.hp2 NA18995.hp1	a0008 a0044 a0090 a0008 a0044 a0090	a0008c0026 a0044c0058 a0090c0098 a0008c0026 a0044c0058 a0090c0098	a0008c0026t0003 a0044c0058t0002 a0090c0098t0001 a0008c0026t0003 a0044c0058t0002 a0090c0098t0001	a0008c0026t0003g0245 a0008c0026t0003g0310 a0008c0026t0003g0328 others(3): Show a0008c0026t0003g0245 a0008c0026t0003g0310 a0008c0026t0003g0328 a0044c0058t0002g0215 a0044c0058t0002g0216 a0090c0098t0001g0068	6	400	0.0150	549	c.152 others(566): Show c.1520-524_1520-523insACCCCACCCCCGGCGTGGGAAGTTCATG TTGTACTCAGCTGGACCCCACCCCCCGCGCGGGAAGTTCATGTTATACTC CGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGAC CCCACCCCCAGCGTGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCC CGCGCGGGAAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGG AAGTTCATGTTATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCAT GTTATACTCCGCTGGACCCCACCCCCAGCGTGGGAAGTTCATGTTATACT CCGCTGGACCCCACCCCCGCGCGGGAAGTTCATGTTATACTCCGCTGGAC CCCACCCCCCGCGCGGGAAGTTCATGTTATACTCAGCTGGACCCCACCCC CTGCGCGGGAAGTTCATGTTGTACTCAGGCTGACCCCCACCCCCCCCACG AGAGAAGTCCATGTTATACTCAGGCGGATCCCCACTCCTGGCGTGTAAAG CTGGTGTTATGCTCAGCTGGA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	9/22			chr21	TogoVar
VPS53_chr17_503668_719839	619628	A A	ACCCCACT others(542): Show ACCCCACTAATATTTCCCGGGTAGCTGGGACTACAGGCACGCACCACCAC GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAC GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCAC GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGCACCACCAT GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC ACCCCACTAATATTTTCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC GCCTGCTTATATTTCCCGGATAGCTGGGACTACAGGCGTGCACCACCACA CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCACA CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGTACCACCACA CCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGCGTACCACCACG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0011 a0001c0007t0011	a0001c0007t0011g0105 a0001c0007t0011g0105	1	232	0.0043	549	c.111 others(568): Show c.1116+3904_1116+3905insCGTGGTGGTACGCGCCTGTAGTCCCA GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTACACGCCTGTAGTCCCA GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGCATGCCTGTAGTCCCA GCTACCCGGGAAATATTAGCGGGGTGTGGTGGTGCACGCCTGTAGTCCCA GCTATCCGGGAAATATAAGCAGGCGTGGTGGTGCACGCCTGTAGTCCCAG CTACCCGGAAAATATTAGTGGGGTGTGGTGGTGCACGCCTGTAGTCCCAG CTACCCGGGAAATATTAGCGGGGCATGGTGGTGCGCGCCTGTAGTCCCAG CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAG CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGCGCCTGTAGTCCCAG CTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCGTGCCTGTAGTCCCAG CTACCCGGGAAATATTAGTGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(542): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCCCTCTCCCCCTCTCCCCT CCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCTCCTCTCCCCC TCCTCTCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0210	1	246	0.0041	549	c.53- others(562): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCCCTCTCCCCCTC TCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCTCCTC TCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCTCTC CCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTC CCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTC CCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(542): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCCGCGCCGCACCC CTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACA CCCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTC CACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCC CCGCGCTCCATCTCTCCACCAACCACACCCCCCGCGCCGCACCTCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACC ACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCC GCACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACC ACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCAC CCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0176 a0001c0002t0046g0176	1	346	0.0029	549	c.181 others(570): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGT GCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGG GTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTT GGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(542): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCCGCGCCGCACCC CTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCC ACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCC CCGCGCTCCATCTCTCCACCAACCACACCCCCCGCGCCGCACCTCTCCAC CACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCG CGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACC ACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCC GCACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACC ACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCAC CCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0014 a0014	a0014c0040 a0014c0040	a0014c0040t0027 a0014c0040t0027	a0014c0040t0027g0131 a0014c0040t0027g0131	1	346	0.0029	549	c.181 others(570): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGGTGTGGTTGGTGGTGGAGGGG TGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTG GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTT GGTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401820	A A	ACCCCCGC others(542): Show ACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCC CTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCCACACCC CCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCC ACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCCG CGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACC ACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGC GCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCA ACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCTC CATCTCTCCACCAACCACACCCCCCGCGCCGCACCCCTCCACCACCAACC ACACCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCC TCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0022 a0001c0001t0047g0022	1	346	0.0029	549	c.181 others(570): Show c.1811-21518_1811-21517insGTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGG GGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGGTGTGGTTGGTGGAGAGA TGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTG GTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTG GTGGTGGAGGGGTGCGGCGCGGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(542): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATATATACGTA TATACACATATATACATGTATATATATATATACGTATATACACATATATA TACATGTATATATATATACGTATATACACATATATATACATGTATATATA TATATGTGTATATATACATGTATATATACACATATATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 NA18951.hp2 NA19082.hp2 HG01255.hp2 NA18951.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0029 a0001c0001t0001g0082	3	383	0.0078	549	c.-42 others(560): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATATATACGTATATACACATATATACATGTATATATATATATACGT ATATACACATATATATACATGTATATATATATACGTATATACACATATAT ATACATGTATATATATATATGTGTATATATACATGTATATATACACATAT ATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(542): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATA TATACGTACGTATATATACATGTATATATACGTACGTATATATACATGTA TATATACGTACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATACATGTATATATATATACGTATA TATACATATATACATGTATATATATATACGTATATACACATATATATACA TGTATATATATGTGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0141 a0001c0001t0006g0036 a0001c0001t0006g0141	2	383	0.0052	549	c.-42 others(560): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTACGT ATATATACATGTATATATACGTACGTATATATACATGTATATATACGTAC GTATATATACATGTATATATACGTACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATACATGTAT ATATATATACGTATATATACATATATACATGTATATATATATACGTATAT ACACATATATATACATGTATATATATGTGTATATATACATGTATATATAC ATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ABR_chr17_998519_1184981	1064027	T T	TTGTTACG others(543): Show TTGTTACGTGAAGTGAGGGCTATACATGTTCCTCTAGACACTGCTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACT GAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATG CATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATACATGTTC CTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTTCCTCTAGA CACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTT GTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTATGT GAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGG CTATGCATGTTCCTCTAGAAACTGTTGTTACGTGAACTGAGGGCTATGCA TGTTCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCT CTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACA C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0163 a0001c0003t0016g0163	1	337	0.0030	550	c.118 others(569): Show c.1182+3049_1182+3050insGTGTCTAGAGGAACATGCATAGCCCT CAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCA CATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACA ACAGTTTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAGAGGAACATGCATA GCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCA GTTCACATAATAGCAGTGTCTAGAGGAACATGTATAGCCCTCAGTTCACG TAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAGT GTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGA GGAACATGCATAGCCCTCAGTTCACATAACAGCAGTGTCTAGAGGAACAT GTATAGCCCTCACTTCACGTAACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(543): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCACCCATTCATCCATCCACC CATCCATTCGCCCACCCATTTACCTACCCATTAATTCACCCACCCTTCCA CCACCCACCCACCCATCCATATACCCACCCACCCATTCACCCATCCATTC ATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCATCTCACCCA TTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATCCACTCATC C	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0014 a0013c0016t0014	a0013c0016t0014g0101 a0013c0016t0014g0101	1	262	0.0038	550	c.775 others(565): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGG ATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGT GGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGG ATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGT GGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGG ATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATA AATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGTGAATGGAT GGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(543): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0170 a0001c0001t0009g0170	1	370	0.0027	550	c.-10 others(571): Show c.-105+17529_-105+17530insTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AP3D1_chr19_2095988_2156566	2128910	C C	CGCTCCGA others(543): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACAC TGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTG GAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCG CCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGC TCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGC ACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAG CCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCC CACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCG ACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCAC A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	406	0.0025	550	c.806 others(565): Show c.806+179_806+180insTGTGGGGCGGGCCGGCTCCACGGGGTGCAG TGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTG TGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGC CGGCTCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACG GGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGT CGGAGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGG GGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGC TCCACGGGGTGCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGT GCAGTGTCGGAGCGGCGGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGG AGCTGTGGGGCGGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGC GGGCCGGCTCCACGGGGTGCAGTGTCGGAGCTGTGGGGCGGGCCGGCTCC ACGGGGTGCAGTGTCGGAGC	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ATP13A3_chr3_194397677_194492002	194421137	G G	GTTTATAT others(543): Show GTTTATATATATATAGTTTATATATATATACTATATATATAGTTTATATA TACTATATATATAGTTTATATATATATACTATATATAGTTTATATATATA TACTATATATAGTATATATATACTATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTTTATATATATACTATATATATAGTTTAT ATATATACTATATATATAGTTTATATATATATACTATATATATAGTTTAT ATATATATACTATATATATAGTATATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATATACTATATA TATAGTTTATATATATATACTATATATATAGTTTATATATATATATACTA TATATATAGTTTATATATATATACTATATATATAGTTTATATATATATAC TATATATATAGTTTATATATATATATACTATATATATAGTTTATATATAT ATATACTATATATATAGTTTATATATATATATACTATATATATAGTTTAT A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	304	0.0033	550	c.331 others(569): Show c.3314-1171_3314-1170insTATAAACTATATATATAGTATATATA TATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTA TATATATATATAAACTATATATATAGTATATATATATAAACTATATATAT AGTATATATATATAAACTATATATATAGTATATATATATATAAACTATAT ATATAGTATATATATATAAACTATATATATAGTATATATATATATAAACT ATATATATAGTTTATATATATATAAACTATATATATAGTTTATATATATA TATACTATATATATAGTATATATATATAAACTATATATATAGTATATATA TATAAACTATATATATAGTATATATATAAACTATATATATAGTATATATA TAAACTATATATATAGTATATATATATAAACTATATATATAGTATATATA TAGTATATATATACTATATATAGTATATATATATAAACTATATATAGTAT ATATATATAAACTATATATATAGTATATATAAACTATATATATAGTATAT ATATATAAACTATATATATATAAA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(543): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA AATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGAAGA CTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCC AAGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTC TCAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCC ATGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGG G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01361.hp2 HG03831.hp1 HG00099.hp1 HG01361.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0075 a0001c0001t0002 a0001c0001t0004 a0001c0001t0075	a0001c0001t0002g0093 a0001c0001t0004g0063 a0001c0001t0075g0074 a0001c0001t0002g0093 a0001c0001t0004g0063 a0001c0001t0075g0074	3	312	0.0096	550	c.69- others(567): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTTCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTGAGATGGAGTCTCA CTCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAA CCTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAG TTTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACC TCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(543): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA AATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGA CTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCC AAGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTC TCAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCC ATGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGG G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01099.hp1 others(19): Show HG00639.hp2 HG01081.hp1 HG01099.hp1 HG01243.hp2 HG01891.hp2 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03831.hp2 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0015 a0001c0016 a0001c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0049 a0001c0002t0016 a0001c0002t0021 a0001c0002t0032 a0001c0003t0010 a0001c0003t0012 a0001c0003t0014 a0001c0003t0015 a0001c0003t0031 a0001c0004t0029 a0001c0015t0015 a0001c0016t0010 a0001c0018t0009	a0001c0001t0002g0259 a0001c0001t0003g0124 a0001c0001t0003g0125 others(19): Show a0001c0001t0002g0259 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0013g0060 a0001c0001t0049g0310 a0001c0002t0016g0150 a0001c0002t0021g0300 a0001c0002t0032g0044 a0001c0003t0010g0155 a0001c0003t0010g0204 a0001c0003t0010g0228 a0001c0003t0012g0156 a0001c0003t0014g0152 a0001c0003t0014g0153 a0001c0003t0014g0157 a0001c0003t0014g0158 a0001c0003t0015g0151 a0001c0003t0031g0222 a0001c0004t0029g0164 a0001c0015t0015g0017 a0001c0016t0010g0061 a0001c0018t0009g0154	22	312	0.0705	550	c.69- others(567): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTGAGATGGAGTCTCA CTCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAA CCTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAG TTTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACC TCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(543): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA AATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGA CTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCC AAGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACGCTGTC TCAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCC ATGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGG G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG03471.hp1 others(1): Show HG02630.hp2 HG02886.hp1 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0077 a0001c0001t0009 a0001c0001t0024 a0001c0001t0077	a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0024g0007 others(1): Show a0001c0001t0009g0004 a0001c0001t0009g0009 a0001c0001t0024g0007 a0001c0001t0077g0008	4	312	0.0128	550	c.69- others(567): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGCGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTGAGATGGAGTCTCA CTCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAA CCTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAG TTTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACC TCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(543): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGTCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA AATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGA CTGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCC AAGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTC TCAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCC ATGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGG G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02109.hp1 HG00741.hp2 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0022 a0001c0003t0007 a0001c0003t0022	a0001c0003t0007g0130 a0001c0003t0022g0131 a0001c0003t0007g0130 a0001c0003t0022g0131	2	312	0.0064	550	c.69- others(567): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTTGAGATGGAGTCTCA CTCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAA CCTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAG TTTGAATTACAGGCATGCGCCACCACGACCATCTAATTTTGTATTTTTAG TAGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACC TCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGT GAGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
B4GALNT4_chr11_364499_387117	374880	G G	GAGGGAGG others(543): Show GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGACGGGAGGGA GGAAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAAGG A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0003 a0015c0022t0003	a0015c0022t0003g0018 a0015c0022t0003g0018	1	184	0.0054	550	c.784 others(565): Show c.784-574_784-573insAGGAAGGGAGGGAGGGAGGAGGAAGGGAGG GAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGA GGACGGGAGGGAGGAAGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C20orf96_chr20_265863_295750	278998	C C	CGGAGGGC others(543): Show CGGAGGGCGGGAGGGCGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGG GAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGA GGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGG GAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGA CGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGG GACGGAGGGAGGGAGGGACGGAGGGCGGGAGGGAGGGAGGGAGGGAGGGC GGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGGGCGGGACG GAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGA GGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGG GACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGA G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0204 a0001c0005t0001g0204	1	410	0.0024	550	c.465 others(565): Show c.465+173_465+174insCTCCGCCCTCCCTCCCTCCGTCCCGCCCTC CGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCT CCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCC GTCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCT CCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCACC CTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCCTCCCTCCCGCCCT CCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCC CTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCT CCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCC GTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCT CCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCC GTCCCGCCCTCCCGCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279045	C C	CGGGAGGG others(543): Show CGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCG GGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGG CGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGG ACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCG GGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGG CGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGAC GGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGG AGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGG GACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGC GGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGG A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03209.hp1 HG03516.hp2 HG01496.hp1 HG03209.hp1 HG03516.hp2	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0001 a0002c0006t0006 a0002c0007t0001 a0002c0006t0001 a0002c0006t0006 a0002c0007t0001	a0002c0006t0001g0133 a0002c0006t0006g0029 a0002c0007t0001g0158 a0002c0006t0001g0133 a0002c0006t0006g0029 a0002c0007t0001g0158	3	410	0.0073	550	c.465 others(565): Show c.465+126_465+127insTCCCTCCATCCCTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCC TCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTC CCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTC CGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCC TCCCTCCGTCCCGCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(543): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGG AGGGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGAC GGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGG AGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACG GAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAG GGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGACGGAGGGAGGG C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0199 a0002c0002t0001g0199	1	410	0.0024	550	c.465 others(565): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTC CCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCC TCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGC CGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1B_chr9_137872782_138129619	138126945	G G	GCCCCCGG others(543): Show GCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAG GGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACC GTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAG GCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCA GGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCC GGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCT GCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGC AAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATG ACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGC GCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGC CAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0022 a0004c0025t0022	a0004c0025t0022g0010 a0004c0025t0022g0010	1	248	0.0040	550	c.49 others(561): Show c.4946_*4947insCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCC AGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGC CCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGG CCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGT GAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGC CATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGG GGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGG CCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGC AGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAA GAGGGCCCTGCAGTGC	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2327		chr9	TogoVar
CASP8_chr2_201255536_201292709	201283070	C C	CGGGGCGG others(543): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCG GGGCGGCTGGACCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCTGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGTCCGGGCGGGGG GTTGAACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCAGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	386	0.0026	550	c.803 others(567): Show c.803-1702_803-1701insCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGACCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCTGCCCCTCACCTC CTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGTCCGGGCGGGGGGTTGAACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGG GGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCAGGCTGGCCGGGCAGG GGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAAATAT others(543): Show AAAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAAC TAGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTGC CGAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGGA TGCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATATA GATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAACA TTGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGAG GGAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAGT TTGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGTG GTAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGGA GTGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCCT TTACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTAG G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG00621.hp1 others(46): Show HG00099.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01106.hp2 HG01167.hp1 HG01261.hp2 HG01934.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02723.hp1 HG03486.hp1 HG03688.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18948.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp2 NA18979.hp2 NA18980.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19063.hp1 NA19070.hp2 NA19085.hp2 NA19087.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0004c0010 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0001t0031 a0001c0001t0038 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0002t0012 a0002c0005t0010 a0004c0010t0007 a0005c0013t0017	a0001c0001t0001g0069 a0001c0001t0001g0127 a0001c0001t0001g0185 others(46): Show a0001c0001t0001g0069 a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0328 a0001c0001t0001g0347 a0001c0001t0002g0072 a0001c0001t0002g0190 a0001c0001t0002g0193 a0001c0001t0002g0230 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0278 a0001c0001t0002g0316 a0001c0001t0004g0015 a0001c0001t0004g0020 a0001c0001t0006g0279 a0001c0001t0009g0126 a0001c0001t0021g0003 a0001c0001t0025g0261 a0001c0001t0025g0340 a0001c0001t0028g0196 a0001c0001t0031g0034 a0001c0001t0038g0229 a0001c0003t0001g0073 a0001c0003t0001g0226 a0001c0003t0002g0155 a0001c0003t0008g0044 a0001c0004t0001g0192 a0001c0004t0001g0281 a0001c0004t0003g0195 a0002c0002t0001g0061 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0010g0070 a0002c0002t0010g0071 a0002c0002t0012g0265 a0002c0005t0010g0264 a0004c0010t0007g0267 a0005c0013t0017g0317	49	384	0.1276	550	c.82+ others(567): Show c.82+12466_82+12467insCCTACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAGTATATATATTTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CDH4_chr20_61247261_61945617	61943317	T T	TGCACCGT others(543): Show TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC GGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0058 a0002c0002t0039g0058	1	106	0.0094	550	c.63 others(561): Show c.6374_*6375insGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACCACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCACGAGG AGCACTGCGACCGTCG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2701		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943345	G G	GACGAGGA others(543): Show GACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC GACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGAC CACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCCCCTCTCACCGAC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0105 a0002c0002t0022g0105	1	106	0.0094	550	c.64 others(561): Show c.6402_*6403insACGAGGAGCACTGCGACCGTCGGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCTTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCG CCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCGGCACCGTGGCCG CCCCCTCTCACCGACC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2729		chr20	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(543): Show CTGTGAGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACT GTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGT GAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGT GACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGG G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	91	0.0110	550	c.177 others(569): Show c.1779-1999_1779-1998insGTGACTGTGAGGCGTGGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTG ACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGG TGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTG AGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTGAGGGG others(543): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAG GAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCAC ACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0018 a0002c0002t0007g0018	1	236	0.0042	550	c.351 others(569): Show c.3514-2415_3514-2414insAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGA GGGGAGGTGGTCACACTGAGGGGAGGTAGTCACACTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATA GTGTGAGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(543): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATCAT A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00738.hp2 others(10): Show HG00099.hp1 HG00408.hp2 HG00738.hp2 HG01952.hp1 HG02145.hp1 HG02602.hp1 HG02683.hp1 NA18959.hp2 NA18974.hp2 NA18979.hp1 NA19010.hp1 NA19060.hp2 NA19082.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0011c0014	a0001c0001t0001 a0001c0002t0002 a0001c0002t0015 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0015 a0001c0005t0007 a0001c0007t0005 a0011c0014t0023	a0001c0001t0001g0016 a0001c0001t0001g0062 a0001c0001t0001g0086 others(10): Show a0001c0001t0001g0016 a0001c0001t0001g0062 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0181 a0001c0002t0002g0001 a0001c0002t0002g0050 a0001c0002t0002g0122 a0001c0002t0015g0044 a0001c0005t0007g0182 a0001c0007t0005g0084 a0011c0014t0023g0110	13	182	0.0714	550	c.267 others(567): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATCATAT ATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729704	A A	ATGCGGGC others(543): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	272	0.0037	550	c.925 others(565): Show c.925-477_925-476insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729760	A A	ATGCGGGC others(543): Show ATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGT GTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGT GAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC GTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGT GTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCT GTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGG GCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGC G	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	272	0.0037	550	c.925 others(565): Show c.925-421_925-420insGTGCGGGCACGGGTGTGCATGAGCCTGTGT GTGTGAGCGTGTGTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGC CTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGC ATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGG GTGTGCATGAGCCTGTGTGTGTGAGCGCGTGTGCATGCGGGCACGGGTGT GCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGCGTGTGCGTGCGGGCAC GGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCGTGC GGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGT GCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGC GTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGT GTGAGCGTGTGTGCGTGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGA GCGTGTGTGAGCGTGTGTGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRLF2_chrX_1185490_1217649	1198183	C C	CCCAGGAA others(543): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCA GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTC CCACCTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGAAGATAG GACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCC AGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCT CCCTCCCACCTCGAAGGCAGGACACCCTCCTCCCACCTCCCAGGAAGGCA GGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCC CAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGG CAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCCACC T	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0069 a0002c0006t0002g0069	1	167	0.0060	550	c.646 others(565): Show c.646+378_646+379insAGGTGGGGAGGGAGGGTGTCCTGCCTTCGA GGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTC CTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGAGGGTGT CCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGA GGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTT CGAGGTGGGAGGGAGGGTGTCCTATCTTCCGGGAGGTGGGAGGGAGGGTG TCCTATCTTCCCGGGAGGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGG AGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCT TCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(543): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC T	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA19085.hp1 HG01943.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	2	418	0.0048	550	c.737 others(565): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTC CCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCCT	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
D2HGDH_chr2_241729630_241773811	241766405	C C	CTTGGGGA others(543): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGTGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGTGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0024 a0004c0005t0024	a0004c0005t0024g0036 a0004c0005t0024g0036	1	412	0.0024	550	c.130 others(569): Show c.1307-1256_1307-1255insGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGTGGAGAACTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGTGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTG AGGGAGTAGGAAGAGGGGGGAGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766705	G G	GTTGGGGA others(543): Show GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGTGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGGGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA C	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19011.hp2 HG00438.hp1 NA19011.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0331 a0003c0003t0010g0332 a0003c0003t0010g0331 a0003c0003t0010g0332	2	412	0.0049	550	c.130 others(567): Show c.1307-965_1307-964insTGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAG	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766751	A A	AGAAGTTG others(543): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02738.hp1 HG03688.hp1 others(1): Show HG02622.hp1 HG02738.hp1 HG03688.hp1 NA20805.hp2	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0003 a0016c0020 a0001c0001 a0003c0003 a0016c0020	a0001c0001t0031 a0003c0003t0005 a0016c0020t0005 a0001c0001t0031 a0003c0003t0005 a0016c0020t0005	a0001c0001t0031g0164 a0003c0003t0005g0335 a0003c0003t0005g0355 others(1): Show a0001c0001t0031g0164 a0003c0003t0005g0335 a0003c0003t0005g0355 a0016c0020t0005g0064	4	412	0.0097	550	c.130 others(567): Show c.1307-956_1307-955insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241766751	A A	AGAAGTTG others(543): Show AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG GGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGCGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG AGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGG G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0219 a0004c0005t0012g0219	1	412	0.0024	550	c.130 others(567): Show c.1307-956_1307-955insGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGCGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAG GGAGTAGGAAGAGGGGGGGGAA	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
DBNDD1_chr16_89999871_90024456	90003876	C C	CGGGACTT others(543): Show CGGGACTTCTGTGACTCCCTCCCCTGCCCCGGGCCACCTTTACGTGCACG TGGGGTGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGT GCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTT TACGTGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCC ACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCT CCCCTGGCCCGGGCTACCTTTACGTGCACGTGGGGTGGGACTTCTGTGAC TCCCTCCCCTGGCCCAGGCCACCTTTACGTGCACGTGGGGTGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18950.hp1 NA19007.hp1 others(2): Show NA18942.hp1 NA18950.hp1 NA19007.hp1 NA19011.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0234	5	412	0.0121	550	c.24 others(561): Show c.2458_*2459insACCCCACGTGCACGTAAAGGTGGCCCGGGCCAGG GGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGG CCAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGC CTGGGCCAGGGGAGGGAGTCACAGAAGTCCCACCCCACGTGCACGTAAAG GTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGT GCACGTAAAGGTAGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCC CACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCC CACCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGGGGAGGGAGTC ACAGAAGTCCCACCCCACGTGCACGTAAAGGTGGCCCGGGGCAGGGGAGG GAGTCACAGAAGTCCC	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		994		chr16	TogoVar
DBNDD1_chr16_89999871_90024456	90004020	C C	CACCTTTA others(543): Show CACCTTTACGTGCACGTGGGGTGGGACTTCTGTGACTCCCTCCCCTGCCC CGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCC TGGCCTGGGCTACCTTTACGTGCACGTGGAGCGGGACTTCTGTGACTCCC TCCCCTGGCCTGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGA CTCCCTCCCCCGGCCCGGGCTACCTTTACGTGCACGTGGGGCGGGACTTC TGTGACTCCCTCCCCTGGCCTGGGCTACCTTTACGTGCACGTGGAGCGGG ACTTCTGTGACTCCCTCCCCTGGCCTGGGCTACCTTTACGTGCACGTGGA GCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCTTTACGTGCAC GTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCTACCTTTACG TGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCTGGCCTGGGCCACCT TTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	412	0.0024	550	c.23 others(561): Show c.2314_*2315insAGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCC GCCCCACGTGCACGTAAAGGTGGCCCAGGCCAGGGGAGGGAGTCACAGAA GTCCCGCCCCACGTGCACGTAAAGGTAGCCCGGGCCGGGGGAGGGAGTCA CAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCAGGCCAGGGGAGGG AGTCACAGAAGTCCCGCTCCACGTGCACGTAAAGGTAGCCCAGGCCAGGG GAGGGAGTCACAGAAGTCCCGCTCCACGTGCACGTAAAGGTAGCCCAGGC CAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTAGCC CGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGG TGGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCTCCACGTGCACGT AAAGGTAGCCCAGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTG CACGTAAAGGTGGCCCGGGGCAGGGGAGGGAGTCACAGAAGTCCCACCCC ACGTGCACGTAAAGGT	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		850		chr16	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(543): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGG AGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGA AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGACAGAGGGGAG G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0097 a0003c0003t0002g0097	1	216	0.0046	550	c.923 others(569): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCC CCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTC CATTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251418	A A	ACCCACAT others(543): Show ACCCACATCCCCCACACACCCCCACACACCCCCCACATCCCCCACACCCC CCCACACCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCCAAC ACCCCCACACCCCCCACATCCCCCACACCCCCCCACACCCCCCACATCCC CACACACCACAAATCCTCCACACCCCCCAACACCCCCACACCCCCCACAT CCCCCACACCCCCCAACACCCCCACACCCCCCACATCCCCCACACCCCCC ACATCCCCCATACCCCCCACACCCCCCACATCCCCCATACCCCTCACACC ACACATTCCCTCACACCCCTCACACCACACATTCCCTCACACCCCTCACA CCACACATTCCCTCACACCCCTCACACCACACATTCCCTCACACCCCACA CACCACACACCCCCATACCCCCACACACTCCCATCCCCCACACCACACAT CCCGCACACCCTCCACACCACACATCCCCACACACCTCACACCCCCCACA CCCCCACACAACCCACATACCCCCACACACCCCACATAACCCCACACACC C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	116	0.0086	550	c.207 others(569): Show c.2073+1746_2073+1747insACACACCCCCACACACCCCCCACATC CCCCACACCCCCCCACACCCCCCACATCCCCACACACCACAAATCCTCCA CACCCCCCAACACCCCCACACCCCCCACATCCCCCACACCCCCCCACACC CCCCACATCCCCACACACCACAAATCCTCCACACCCCCCAACACCCCCAC ACCCCCCACATCCCCCACACCCCCCAACACCCCCACACCCCCCACATCCC CCACACCCCCCACATCCCCCATACCCCCCACACCCCCCACATCCCCCATA CCCCTCACACCACACATTCCCTCACACCCCTCACACCACACATTCCCTCA CACCCCTCACACCACACATTCCCTCACACCCCTCACACCACACATTCCCT CACACCCCACACACCACACACCCCCATACCCCCACACACTCCCATCCCCC ACACCACACATCCCGCACACCCTCCACACCACACATCCCCACACACCTCA CACCCCCCACACCCCCACACAACCCACATACCCCCACACACCCCACATAA CCCCACACACCCCCCACATCCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DHRSX_chrX_2214506_2505976	2227761	A A	AAGGGAGG others(543): Show AAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAG GGAGGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAG GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGG AAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGG AGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG AGGGGAAGGGAGGGAGGGAAGGAGGGAGGAAGGGAGGGAGGGAGGGAAGG GAGGGAGGGAGGGAGGGAGGAAGGGAGGGAAGGGAGGGAGGGAGGGAGGG AGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGAAGGCAGGGAGGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGG G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0014 a0003c0003t0002g0014	1	50	0.0200	550	c.805 others(567): Show c.805-6533_805-6532insCCCTCCCTCCCTCCCTCCCTCCCTTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTGCCTTCCCCCTTCCCC CCTCCCTCCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTCCC TCCTTCCCTCCCTCCCTTCCCCTCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTTCCCCCCTCCCTCCCTCCC TCCCTCCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCCTCCCTTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCCT CCCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DHRSX_chrX_2214506_2505976	2227761	A A	AAGGGAGG others(543): Show AAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGTGAG GGAGGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAG GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGG AAGGGAGGGAAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGG GAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGG AGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG AGGGGAAGGGAGGGAGGGAAGGAGGGAGGAAGGGAGGGAGGGAGGGAAGG GAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAAGGGAGGGAGGGAGGG AGGGAGGGGGGAAGGGAGGGAGGGAGGGGGGAAGGGGGAAGGCAGGGAGG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGG G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0013 a0003c0003t0002g0013	1	50	0.0200	550	c.805 others(567): Show c.805-6533_805-6532insCCCTCCCTCCCTCCCTCCCTTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCCTCCCTGCCTTCCCCCTTCCCCCCTC CCTCCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTCCTCCC TCCTTCCCTCCCTCCCTTCCCCTCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTTCCCCCCTCCCTCCCTCCC TCCCTCCCTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCCTCCCTTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCCT CCCTCCCTCCCTCCCTCCCCTCCCTCACTCCCTCCCTCCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DISP3_chr1_11474155_11542551	11522750	A A	ACCCAGCC others(543): Show ACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCC AGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCC CAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCA GGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGA G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0113 a0001c0007t0005g0114 a0001c0007t0005g0115 a0001c0007t0005g0113 a0001c0007t0005g0114 a0001c0007t0005g0115	3	358	0.0084	550	c.236 others(569): Show c.2363-1183_2363-1182insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA AGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCC AGGACCCAGCCAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)