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
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(623): Show ATGATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGG GTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGG TGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATG GGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGAT GGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTGGTGATG GTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGT GGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02258.hp2 HG01175.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0149 a0001c0001t0001g0154	2	292	0.0069	630	c.21 others(645): Show c.21-379_*21-378insATCACCATCACCACCATCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCATCACCACCATCACTGCCACCATCA CCATCACCACCATCACCACCATCACCACCATCATCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCAC CATCACCACCATCACCGTCACCACCATCACCACCACCACCATCACCACCA TCATCACCATCACCACCACCATCACCACCACCATCACCACCATCATCACT ATCACCACCATCACCACCATCATCACCACCACCACCACCACCATCACCAC CACCATCACCACCATCACCATCACCACCATCATCACCACCACCGTCACCC CCATCATTACCATCACCACCACCACCACCACCACCATGACCACCACCACC ACCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCACCAC CATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCA CCCCCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	404349	G G	GGGGGGAC others(623): Show GGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGGACGGGGCCC TGTCCTGAGGGGTCTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTG AGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCT GCCCCGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGG GGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCC TGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGA GGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTG CCCCGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAGGGGTCTGAG GGGGGGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGC CCCGAGGGGTGTGAGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAG GGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCT GCCCCGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGG GGGAACGGGGTCCTGCCCTGAGGGGTGTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	322	0.0031	630	c.27 others(641): Show c.2746_*2747insTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCC TCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCGGGGCAGG ACCCGTCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCCCCCCCTC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCTCACACCCCTCGGGGCA GGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCCCCCTC AGACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCGGGGCAG GACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCA CACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGG CCCCGTCCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCCCC ACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCGGGGCAGG ACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCAC ACCCCTCAGGACAGGGCCCCGTCCCCCCCCTCAGACCCCTCAGGACAGGG CCCCGTCCCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1095		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(623): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCGTAGGGGCC GGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGTGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	338	0.0030	630	c.300 others(647): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCG TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCAGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGT AGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGT GA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(623): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0011	1	142	0.0070	630	c.244 others(649): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGA AGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAG GACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(623): Show CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGT CGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCG TCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCC TCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTC CCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCTCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0257 a0001c0002t0004g0257	1	410	0.0024	630	c.-22 others(647): Show c.-22-1979_-22-1978insTCGCCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGC CTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGT CG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(623): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCACCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCC GCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCTATCC TCACCCGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CCATTCTCACCTGCCACAGCTCACCTTCCTATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGC CACGGCCCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTGTCCCC TCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCACCT TCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGCCCCCTCGCCTGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCCCACCTTCCTGCCCCCTC GCCTGCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0112 a0001c0007t0005g0112	1	284	0.0035	630	c.411 others(647): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCAGGCGAGGGGGCAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCA GGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGG TGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCC GTGGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAA GGTGAGCTGTGGCGGGTGAGGATAGGAAGGTGAGCTGTGGCAGGTGAGAA TGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGG TGAGGATAGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGT GGCGGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAG GATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCA GG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD2AP_chr6_47472789_47632263	47505667	G G	GGGGGGCT others(623): Show GGGGGGCTGACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCA CCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGGCCGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGG CCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGG CCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCA CCTCCCTCCCGGACAGGGCGGTTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03139.hp2 HG02965.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0278 a0002c0002t0001g0279	2	322	0.0062	630	c.165 others(647): Show c.165+2232_165+2233insCTGACACCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCC TGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCT GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGA GGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGG GG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD2AP_chr6_47472789_47632263	47505667	G G	GGGGGGCT others(623): Show GGGGGGCTGACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGG CCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGG CCGGGCGTGGGGCTGACACCCCCACCTCCCTCCTGGACAGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCA CCTCCCTCCCGGACAGGGCGGTTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp2 HG01243.hp1 HG02615.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0276 a0002c0002t0001g0280 a0002c0002t0001g0276 a0002c0002t0001g0280	2	322	0.0062	630	c.165 others(647): Show c.165+2232_165+2233insCTGACACCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCGTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCC TGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCTCCCTCCT GGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGA GGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGG GG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC42SE2_chr5_131259053_131399672	131278724	C C	CCCCCCTC others(623): Show CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCTCCCCCGTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCCTCCCCCCT CCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	256	0.0039	630	c.-45 others(651): Show c.-455+14573_-455+14574insCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTC CCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCTCCCCCGTCCCCCCTCCCCTCCCCCCT CCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCC CCTCCCCCCTCCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTC CCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHMP1A_chr16_89639435_89662708	89647564	A A	AGACCCAG others(623): Show AGACCCAGCACGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAG CGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	392	0.0026	630	c.253 others(645): Show c.253-234_253-233insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC GCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGTGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647614	T T	TGCGGGGT others(623): Show TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGT GGAGAAAAGGCCGCCGACGTGGGGACCCAGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0166 a0001c0001t0009g0166	1	392	0.0026	630	c.253 others(645): Show c.253-284_253-283insGCTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647637	C C	CGCCGACG others(623): Show CGCCGACGTGGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACG TGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGG GGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGA CGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGA CCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGC GGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGG TGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAA AGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCC GACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG GACCCAGCGCGGGGTCGGTGGAGAAAAGGCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	392	0.0026	630	c.253 others(645): Show c.253-307_253-306insCGCCTTTTCTCCACCGACCCCGCGCTGGGT CCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGT CGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCC TTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCC ACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCC CGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGG GTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCAC GTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCT CCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGAC CCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCC ACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTCCCCACGTCGGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647648	G G	GGACCCAG others(623): Show GGACCCAGTGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAG CGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGT CGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGG GTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGAC CCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGCGCG GGGTCGGTGGAGAAAAGGCGGCCGACGTGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18970.hp1 NA19066.hp2 NA18957.hp1 NA18970.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315	3	392	0.0077	630	c.253 others(645): Show c.253-318_253-317insTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTCTCCACC GACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGC GCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648194	A A	AGACCCAG others(623): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAG TGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGT CGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAG AAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCC GCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGT GGGGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCC AGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGTGCGGG GTCGGTGGAGAAAAGGCGGCCGACGTGGACACCCAGTGCGGGGTCGGTGG AGAAAAGGCCGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGG CCGCCGACGTGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGAC GTGGACACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACAC CCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCG GGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	392	0.0026	630	c.253 others(645): Show c.253-864_253-863insCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTG GGTGTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTGTCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCG GCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTGTCCACGTCGGCCGCCTTTTCTCCACCGA CCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTCCC CACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACC GACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGC ACTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648211	G G	GGTGGAGA others(623): Show GGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGA AAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGG CCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGACGTG GAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCA GCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGG TCGGTGGAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGA GAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGC CGCCGACGTGGAGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACG TGGGGACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGGGACC CAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGCGCGG GGTCGGTGGAGAAAAGGCGGCCGACGTGGAGACCCAGCGCGGGGTCGGTG GAGAAAAGGCGGCCGACGTGGGGACCCAGCGCGGGGTCGGTGGAGAAAAG GCCGCCGACGTGGACACCCAGCGCGGGGTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	392	0.0026	630	c.253 others(645): Show c.253-881_253-880insGGACCCCGCGCTGGGTGTCCACGTCGGCGG CCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCT CCACCGACCCCGCGCTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGAC CCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCGCT GGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCC ACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGC GGCCTTTTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTT CTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCG ACCCCGCGCTGGGTCTCCACGTCGGCGGCCTTTTCTCCACCGACCCCGCG CTGGGTCCCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCT CCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTGGGTCTCCACGTCG GCCGCCTTTTCTCCACCGACCCCGCGCTGGGTCTCCACGTCGGCGGCCTT TTCTCCACCGACCCCGCGCTGGGTCCCCACGTCGGCCGCCTTTTCTCCAC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	326	0.0031	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCTG GGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GTGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01515.hp2 others(15): Show HG01069.hp1 HG01167.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01943.hp2 HG02109.hp1 HG02148.hp2 HG02280.hp2 HG02630.hp1 HG02723.hp2 HG02897.hp2 HG03195.hp2 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp1 NA20752.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0004 a0005c0010t0001 a0001c0001t0001 a0001c0001t0004 a0005c0010t0001	a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0132 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0004g0128 a0005c0010t0001g0147	18	326	0.0552	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC TGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	326	0.0031	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACCC CGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	326	0.0031	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCT GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG01255.hp1 others(7): Show HG00544.hp2 HG01192.hp1 HG01255.hp1 HG01496.hp2 HG03239.hp1 HG03834.hp1 HG04184.hp2 NA18944.hp1 NA18955.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0160 others(7): Show a0001c0001t0002g0152 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0232	10	326	0.0307	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCT GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCATC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02809.hp2 HG02897.hp1 others(1): Show HG00323.hp1 HG02809.hp2 HG02897.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0003c0008t0001	a0001c0001t0001g0023 a0001c0002t0001g0126 a0001c0002t0003g0107 others(1): Show a0001c0001t0001g0023 a0001c0002t0001g0126 a0001c0002t0003g0107 a0003c0008t0001g0114	4	326	0.0123	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGCGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	326	0.0031	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCGCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(623): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCGG GAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(98): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00639.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18982.hp1 NA18983.hp2 NA18994.hp2 NA19003.hp1 NA19010.hp2 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0011 a0010c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0007 a0002c0003t0001 a0003c0004t0001 a0004c0011t0001 a0010c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0030 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0004g0293 a0001c0001t0005g0053 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0009g0256 a0001c0001t0010g0001 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0028 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0241 a0001c0002t0007g0236 a0001c0002t0007g0239 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0003c0004t0001g0277 a0003c0004t0001g0297 a0004c0011t0001g0280 a0010c0015t0001g0259	101	326	0.3098	630	c.737 others(649): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGT AGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGC CAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPS3_chr17_17241616_17286246	17252332	G G	GCAGATAA others(623): Show GCAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTG GTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCC AGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACG CTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGC TGTCCAGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGA TAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTG TGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGT ACAGATAACGCTTTGGTGTGTGGGCTGTCCTGGGTACAGATAACGCTTTG GTGTGTGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCC TGGGTACAGATAACGCTTTGGTGTGTGGGCTGTCCAGGGTACAGATAACG CTTTGGTGTGTGGGCTCTCCTGGGTACAGATAACGCTTTGGTGTGTGGGC TGTCCTGGGTACAGATAACGCTTTGGTGTGTGGGCTCTCCTGGGTACAGA TAACGCTTTGGTGTGTGGGCTCTCCTGGGTA	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20129.hp1 HG02055.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0097 a0001c0001t0001g0099	2	352	0.0057	630	c.102 others(649): Show c.1023+2526_1023+2527insTACCCAGGAGAGCCCACACACCAAAG CGTTATCTGTACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCA GGACAGCCCACACACCAAAGCGTTATCTGTACCCAGGAGAGCCCACACAC CAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGT ACCCAGGAGAGCCCACACACCAAAGCGTTATCTGTACCCAGGAGAGCCCA CACACCAAAGCGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTA TCTGTACCCTGGACAGCCCACACACCAAAGCGTTATCTGTACCCAGGAGA GCCCACACACCAAAGCGTTATCTGTACCCAGGAGAGCCCACACACCAAAG CGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTATCTGTACCCT GGACAGCCCACACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACAC CAAAGCGTTATCTGTACCCAGGACAGCCCACACACCAAAGCGTTATCTGT ACCCTGGACAGCCCACACACCAAAGCGTTATCTGTACCCTGGACAGCCCA CACACCAAAGCGTTATCTGTACCCTGGACAGCCCACACACCAAAGCGTTA TCTG	COPS3	ENSG00000141030.13	transcript	ENST00000268717.10	protein_coding	9/11			chr17	TogoVar
CPNE4_chr3_131528569_132040014	131978284	A A	ATATATAT others(623): Show ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT TTATATATATTTTTATATATTTATATATTTATATATATATTTATATATAT ATTTATATATATTTTTATATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATATTTATATATATTTATATATATTTATAT ATATATATTTATATATATATTTTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATATTT ATATATATATTTATATATATTTATATATATATATTTATATATATATATAT ATATTTATATATATTTATATATATATATATATTTATATATATTTATATAT ATATATTTATATATATATTTATATATATTTATATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATATTTATATATATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	94	0.0106	630	c.-2+ others(647): Show c.-2+56282_-2+56283insAATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA AATATATATATATAAATATATATATATAAATATATATAAATATATATATA AATATATATAAATATATATATATAAATATATATAAATATATATATAAATA TATATATATAAATATATATAAATATATATATATATATAAATATATATAAA TATATATATATATATATAAATATATATATATAAATATATATAAATATATA TATAAATATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAAAATATATATATAAATATA TATATATAAATATATATAAATATATATAAATATATATATATAAATATATA TAAATATATATATAAATATATATATAAATATATATATAAAAATATATATA AATATATATATAAATATATATATAAATATATAAATATATAAAAATATATA TAAATATATAAATATATATAAATATATATATAAATATATATAAATATATA TA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978284	A A	ATATATAT others(623): Show ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT TTATATATATTTTTATATATTTATATATTTATATATATATTTATATATAT ATTTATATATATTTTTATATATATATTTATATATATATTTATATATATAT TTATATATATTTTTATATATATATTTATATATATTTATATATATATATTT ATATATATTTATATATATTTATATATATATATTTTTATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATATTTATATATATTTAT ATATATATATTTATATATATATTTATATATATTTATATATATATATTTAT ATATATATATATATATTTATATATATTTATATATATATATATTTATATAT ATTTATATATATATATTTATATATATATTTATATATATTTATATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	94	0.0106	630	c.-2+ others(647): Show c.-2+56282_-2+56283insAATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATATATAAATATATATAAATATATATATAAATATATATA AATATATATATATAAATATATATAAATATATATATAAATATATATATATA AATATATATAAATATATATATATATAAATATATATAAATATATATATATA TATATAAATATATATATATAAATATATATAAATATATATATAAATATATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATAAATATATAAAAATATATATATATAAATATATATAAATATA TATAAATATATATATATAAATATATATAAATATATATATAAAAATATATA TAAATATATATATAAATATATATATAAATATATATATAAAAATATATATA AATATATATATAAATATATATATAAATATATAAATATATAAAAATATATA TAAATATATAAATATATATAAATATATATATAAATATATATAAATATATA TA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CROCC2_chr2_240901336_240998311	240980696	T T	TCTCTGGG others(623): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTGTCTGGGGT AGGAGCCTCAGGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAG GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0020 a0020	a0020c0028 a0020c0028	a0020c0028t0001 a0020c0028t0001	a0020c0028t0001g0027 a0020c0028t0001g0027	1	350	0.0029	630	c.440 others(649): Show c.4402-2179_4402-2178insGGGTAGGAGCCTCAGGATCCCAGGCT CATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCC CTGCTCAGTGTCTGGGGTAGGAGCCTCAGGAGCCCAGACTCATCCCTGCT CAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTC TCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGG GGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAG GAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCC TCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGG AGCCCAGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCC AGGCTCATCCCTGCTCAGGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCT CATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCC CTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCT CAGTCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGGC TCTG	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(623): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGG CCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATCCGCAC AGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACATTCAC CATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAGCCACA TTCACCATGGGGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	238	0.0042	630	c.635 others(647): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCTCCATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCTGCTGTGCGGATACGCCATCCATGGTAAATGTGGCC GCTGTGCGGATATGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCATCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATG TG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
DIDO1_chr20_62872743_62931505	62875266	C C	CCACCCCC others(623): Show CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCAC CCCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCC CCACCCCCACCCCCACCCGCACCCGCACCCGCACCCCCACCCTCACCCTC ACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCC GCACCCCCACCCTCACCCTCACCCGCACCCGCACCCCCACCCCCACCCGC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCCCACCCCCACCCTCACCCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	2	320	0.0063	630	c.39 others(641): Show c.3966_*3967insCGGGTGAGGGTGAGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGAGGGTGGGGGTGCGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGAG GGTGAGGGTGGGGGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG AGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2476		chr20	TogoVar
DLGAP2_chr8_732628_1713476	801975	C C	CCCTCCTG others(623): Show CCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAATGGTCCACACACCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGTCCTC TGTCCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTGGGCCCTCCATCC TCATGGCCTGGGGAATGGTCTGCACCCCTCCTGGGTCCTCTGTCCTCACA GCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCATCCTCACGGCCTG GGGAACAGTCTGCACCCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAA CAGTCTGCACCCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAACAGTC TGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCCGCAC CCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAACAGTCTGCACCCCTC CTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCCGCACCCCTCCTGGG CCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACCTCCTGGGCCCTC CGTCCTCACGGCCTGGGGAACGGTCCGCACT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	40	0.0250	630	c.18+ others(647): Show c.18+64159_18+64160insCCCTCCATCCTCACGGCCTGGGGAATGG TCCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCAC ACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCC TCCTGGGTCCTCTGTCCTCATGGCCTGGGGAACGGTCCGCACCCCTCCTG GGCCCTCCATCCTCATGGCCTGGGGAATGGTCTGCACCCCTCCTGGGTCC TCTGTCCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCAT CCTCACGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCATCCTCA CGGCCTGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCATCCTCACGGCC TGGGGAACAGTCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AACAGTCCGCACCCCTCCTGGGCCCTCCATCCTCACGGCCTGGGGAACAG TCTGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACAGTCCGC ACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCACACACC TCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGGTCCGCACTCCTCCTG GG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400013	T T	TCACCACC others(623): Show TCACCACCTCCTTCACCATCACCAGCACCTCCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCAC CTCCACCATCACCACCACCATCTTCACCATCACCACCTCCACCATCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCACCACCTCCACCACCA CCACCATCTTCACCGTCACCACCACCTCCACCACCACCACCTCCTCCACC ACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCA GCATCTTCACCATCACCACCACCTCCACCAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0061 a0061	a0061c0166 a0061c0166	a0061c0166t0018 a0061c0166t0018	a0061c0166t0018g0001 a0061c0166t0018g0001	1	256	0.0039	630	c.323 others(647): Show c.3234+761_3234+762insTCCTTCACCATCACCAGCACCTCCACCA TCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCTCCACCATCACCACCACCATCTTCACCATCACCAC CTCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCTCCTTCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCACCATCTTCACCGTCACCACCACCTCCACCACCA CCACCTCCTCCACCACCACCACCACCTCCACCACCATCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCA CC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCT others(623): Show CACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCA CCATCACCACCAGCTCCACCACCACCACCTCCTCCACCACCACCACCTCC TCCACCACCACCACCTCCTCCACCACCACCACCACCTCCCCCACTACCAA CAGCTCCTTCACCATCAACACAATATCCACCACCACCATCACCACCACCT CCACCACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACC ACCACCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTC CACCTCCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCT CCACCATCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCACCACCCTCACCACCTTC TCCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAG CAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0039 a0039	a0039c0052 a0039c0052	a0039c0052t0001 a0039c0052t0001	a0039c0052t0001g0079 a0039c0052t0001g0079	1	256	0.0039	630	c.323 others(649): Show c.3234+1717_3234+1718insCCACCTCCTCCACCATCACCACCACC TCCACCACCACCACCTCCTCCACCATCACCACCAGCTCCACCACCACCAC CTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCACCA CCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCAACACAATATCC ACCACCACCATCACCACCACCTCCACCACCACCTCCTCCACCACCACCAC CTCCACCACCACCACCACCACCACCACCACCACCTCCACCATCACCACCT CCTTCACCATCACCATCACCTCCACCTCCACCACCACCTCCACCACCACC ACCTCCACCATCACCACCACCTCCACCATCACCACCTCCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCACCTCCACCACCACCACCACCTCCACCACCAGCACTTCCACCATCACC ACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTC CACCACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCA CCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCC AATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89619306	C C	CCCCCCTG others(623): Show CCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCT GCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGC TCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	250	0.0040	630	c.-10 others(649): Show c.-107+5592_-107+5593insTGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGC CCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(623): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGAGGTG GTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATG GCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGACG GAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGGTGGTGG GAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTGG GAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTGG GAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAGG TGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGGT GGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0042 a0002c0001t0002g0042	1	364	0.0028	630	c.127 others(645): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCC ACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTT CCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCT CCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCACCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCAC CGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCAC CGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCAC CGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCAC TACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCAC	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(623): Show CTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCACCATCCCC ATACACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCCT ACCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATACACAGCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATAC ACACCCCCTACCACCATCCTCACCACCATCCCCATACACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTCACCAC CATCCCCATACACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACC ACCATCACCACCATCCCCATCCACACCCCCT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	250	0.0040	630	c.259 others(649): Show c.259+21954_259+21955insAGGGGGTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGTATGG GGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAT GGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGAGGATGGTGGTAGGG GGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGCTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGTATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATGGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137355563	G G	GGAGGATG others(623): Show GGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGGAGGAT GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGA AAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGAAAGGGAG GAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGATGGAGGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	82	0.0122	630	c.757 others(645): Show c.757+704_757+705insTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTT CCTCCCTTTCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCCT TTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTTCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTT CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTC CTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTC CATCCTCCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCATCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(623): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19003.hp2 NA18969.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0294 a0001c0001t0001g0283 a0001c0001t0001g0294	2	334	0.0060	630	c.-10 others(649): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATGT others(623): Show ATGTATGTATATTATATACATATAAATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATATATATAAATATATATATATTTGTATATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATATA TATATACATATAAATATATATTTATATACATATAAATATATAATTATATA CATATAAATATATAATTATATACATATAAATATATATAATTATATACATA TAAATATATATTTATATACATATAAATTTATATACATATAAATATAAATA TTTATATTTATATACATATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	292	0.0034	630	c.49 others(641): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATTTATATGTATATAAATATATATTTATAT GTATATAATTATATATATTTATATGTATATAATTATATATTTATATGTAT ATAATTATATATTTATATGTATATAAATATATATTTATATGTATATATAT ATAAATATATATATATTTATATATATATAAATATATATATATTTATATAT ATATACAAATATATATATATTTATATATATATAAATATATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTT ATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATAT GTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTAT ATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAA ATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATAT TTATATGTATATAAATATATATTTATATGTATATAATATACATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
GALNT9_chr12_132191372_132334589	132241327	A A	ACCCATTA others(623): Show ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACGCCACACACCCTTCCCGGGACCCTCCCTATACCAATTACA CACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACAT GCCACACCCCCTTCCCAGGGCCCTCCCTATCCCCATTACACACACAACAC ACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCC CTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACACCCTTCC AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCTTGG CCGTCCCTATACCCATTACACACACGCCACACCACCTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACACACCCTTACAGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCTGGGGACCTCCCTATACCCA TTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC GCCACACCCCCTTCCCAGGGACCTCCCTATC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	183	0.0055	630	c.107 others(649): Show c.1077+6582_1077+6583insGATAGGGAGGTCCCTGGGAAGGGGGT GTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGC GTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTG TGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGG GACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGG CCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAG GGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGT GTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTT GTGTGTGTAATTGGTATAGGGAGGGTCCCGGGAAGGGTGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242170	G G	GGCCCTCC others(623): Show GGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCC TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTA CACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACC ACACACCCTTCCCGGGGCCCTCCCTATCCCCATTACACACACGCCACACC CCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTT CCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGG GGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCT TCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCCCT ATACCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCCGGA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0063	1	183	0.0055	630	c.107 others(649): Show c.1077+5739_1077+5740insTCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATG GGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTAT AGGGAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCC CCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGG AAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCGGGAAGGG TGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGT GTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGA GGGC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242197	G G	GCCACACC others(623): Show GCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCAC ACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACC CTTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCC CGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCCGGGG CCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTC CCTATACCCATTACACACACAACACACCCCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGAGCCCTCCCTATACCCA TTACACACACACCACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACA CACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC ACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACAC ACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACC CTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCC CGGGGCCCTCCCTATACCCATTACACACACA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0046 a0001c0038t0001g0046	1	183	0.0055	630	c.107 others(649): Show c.1077+5712_1077+5713insTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGT GTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTT GTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGGTGTGTG TGTAATGGGTATAGGGAGGGCTCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGG GAAGGCCCCGGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGT GTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242392	C C	CGGGGCCC others(623): Show CGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGG CCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTC CCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCA TTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACA CACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACAC GCCATACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCAC ACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCGCACCCC CTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCCTTCC CGGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCTTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACCCTTCCAGGGGCCCTCCCTAT ACCCATTACACACACACCACACCCCCTTCCA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	183	0.0055	630	c.107 others(649): Show c.1077+5517_1077+5518insTGGAAGGGGGTGTGGTGTGTGTGTAA TGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGG GAAGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCG GGAAGGGGGTGCGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG GGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGT ATGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGC GTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGT ATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGG CCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(623): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATACATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	208	0.0048	630	c.-97 others(647): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATACATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(623): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01943.hp1 HG01978.hp1 others(2): Show HG01258.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0036 a0001c0001t0001 a0001c0001t0004 a0001c0001t0036	a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0093 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0004g0091 a0001c0001t0036g0092	5	208	0.0240	630	c.-97 others(647): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(623): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02698.hp1 NA19086.hp1 HG02132.hp1 HG02698.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0042 a0001c0001t0001 a0001c0001t0003 a0001c0001t0042	a0001c0001t0001g0074 a0001c0001t0003g0113 a0001c0001t0042g0129 a0001c0001t0001g0074 a0001c0001t0003g0113 a0001c0001t0042g0129	3	208	0.0144	630	c.-97 others(647): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(623): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0022 a0002c0004t0022	a0002c0004t0022g0085 a0002c0004t0022g0085	1	208	0.0048	630	c.-97 others(647): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073915	A A	ATATATAT others(623): Show ATATATATTTATATTTATTTATATATATAAATATATATATTTATATTTAT TTATATATATAAATATATATATTTATATTTATATATATATATAAATATAT ATATTTATATATATATATAAATATATATATTTATATTTATTTATATATAT AAATATATATATTTATATTTATTTATATATATATAAATATATATATTTAT ATTTATATTTATATATTTATATTTATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTAATATATATTTATATATATAAAT ATATATATTTATATATAAATATATATTTATGTATATTTATATATAAATAT ATATATTTATATATATAAATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATAAATATATATATTTATATATAAATATATATAT TTATATATATATTTATATATAAATATATATATTTATATATAAATATATAT ATTTATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTAT ATTTATATATATATATAAATATATATTTATG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	208	0.0048	630	c.-97 others(647): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATAAATATATATTTATGTAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HPCAL1_chr2_10297904_10432604	10399216	A A	ACCACCAC others(623): Show ACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA CCACCACCACCATCACCACCACCATCACCATCACCACCACCACCACCATC ACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCATCAT CACCGCCGCCACCACCACCACCATCATCACCACCATCACCATCACCACCA CCACCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCACCATCACCATCATCACCACCACCACCACCACCATCACCAC CATCACCATCACCACCACCACCACCATCACCACCACCATCACCATCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCATCGCCG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	314	0.0032	630	c.-25 others(647): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCA CCATCATCACCGCCGCCACCACCACCACCATCATCACCACCATCACCATC ACCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCAC CACCACCATCACCACCACCATCACCATCATCACCACCACCACCACCACCA TCACCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCACCATCACCACCACCACCATCGCCGCCACCACCACCA CC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCAAGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCAGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	433	0.0023	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACTGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCTTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCACGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG00733.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	433	0.0046	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCGTGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT	HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding		1877		chr16	TogoVar

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Search Results (Total: 10000 hits)