Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CDH4_chr20_61247261_61945617	61331582	C C	CCCCAGGC others(927): Show CCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCTCAGATCTACCTCCTGC CCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGA CCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCC ACCTGCCCTAGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCT CCTGCCCCGGCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCC CCAGGCTCACCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCC CGGCCACCTGCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCT CACCTCCTGCCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCC ACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACC TGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCT GCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCA GGCCCACCTCCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAG ACTCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGC CACCTACCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGC CCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCC CCCGCCAACTGCCCCAGGTCTACCTCCTGCCCCGGCCACCTGCCCCAGGC CCACCTCCTGCCCCGGTCACCTGTCCCAGCCCACCTCCTGCCCCGGCCAC CTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04204.hp2 HG03927.hp1 HG04204.hp2	a0002 a0002	a0002c0005 a0002c0009 a0002c0005 a0002c0009	a0002c0005t0002 a0002c0009t0034 a0002c0005t0002 a0002c0009t0034	a0002c0005t0002g0061 a0002c0009t0034g0009 a0002c0005t0002g0061 a0002c0009t0034g0009	2	106	0.0189	934	c.169 others(953): Show c.169+76677_169+76678insTCAGATCTACCTCCTGCCCCGGCCAC CTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGACCCACCTCC TGACCCGACCACCTCCCCCAGGCTCACCTCCTGCCCCGGCCACCTGCCCT AGAGCCACCTCCTGCCCCGGCCACCTGCCTCAGGCCCACCTCCTGCCCCG GCCACCTGCCCCAGATCTACCTCCTGACCCGACCACCTCCCCCAGGCTCA CCTCCTGCCCTGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCT GCCCCAGAGCCACCTCCTGACCCGACCACCTCCCCCAGGCTCACCTCCTG CCCCGACCACCTGCCCCAGGCCCACCTCCTGCCCCAGACCCACCTCCTGC CTCAGCCACCTGCCCCAGACTCACCTCCTGCCCCGGCCACCTGCCCCAGA GCCACCTCCTGCCCCGGCCACCTACCCCAGACCCACCTCCTGCCCCGGCC ACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCT CCTGCCCCAGACCCACCTCCTGCCTCAGCCACCTGCCCCAGACTCACCTC CTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTACCC CAGACCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCC GGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCC ACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAAC TGCCCCAGGTCTACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCT GCCCCGGTCACCTGTCCCAGCCCACCTCCTGCCCCGGCCACCTGCCCCAG GCCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACCTCCTGCCCCGGC CACCTGCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(927): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGATGGATAAATGGATGGATGGATGGATGGATAGATGGG TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGA TGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0006 a0009c0014t0007g0006	1	236	0.0042	934	c.342 others(953): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGAT GGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGATGGATAAATGGAT GGATGGATGGATGGATAGATGGGTGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGAT GGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGG ATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGAT AGATGGGTGGGTGGATGGATGGATGGATGGATGGATAGATGGATAGATGG GTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGT GGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGG ATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CUL4A_chr13_113204613_113272108	113232039	C C	CCACCACT others(927): Show CCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACCACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC CACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCA CCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCA CCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACCA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCAT TACTGTCACCACTACCCGCCCACCACCATTACTGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	396	0.0025	934	c.513 others(951): Show c.513-1110_513-1109insCTGCCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCA CCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGTCACCACCACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACCACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTAC TGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTACTGTCACCACCACCCGCCCACCACCAT TACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACCACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACT ACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTG CTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTG	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DBNDD1_chr16_89999871_90024456	90008154	G G	GTCCCAAG others(927): Show GTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGACGTCCCAAGG GGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGGGGCCTCAGC CCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACA CACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCA GGACGTCCCAAGGGGCCTCACCCCCCAAACACACACTCCCAGGACTTCCC AAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCAAGGGGCCTC ACCCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCAC CCACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCC CAGGACTTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCC CAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCAAGGGGCCT CAGCCCACCACACACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACC ACGCACACCTCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACC TCCCAGGACGTCCCAAGGGGCCTCAGCCCACCACGCACACCTCCCAGGAC GTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGACTTCCCAAGG GGCCTCAGCCCACCACCCACACCTCCCAGGACGTCCCAAGGGGCCTCACC CCCCCAAACACACCTCCCAGGACTTCCCAAGGGGCCTCAGCCCACCACCC ACACCTCCCAGGACGTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCA GGACTTCCCAAGGGGCCTCACCCCCCAAACACACCTCCCAGGACGTCCCA AGGGGCCTCACCCCCCAAACACACCTCCCAGGACT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	412	0.0024	934	c.319 others(949): Show c.319+629_319+630insAGTCCTGGGAGGTGTGTTTGGGGGGTGAGG CCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGA AGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGA GGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTT GGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGTGGTGGGCTG AGGCCCCTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTT GGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGTCC TGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTG TGCGTGGTGGGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTGTGGTG GGCTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCC CCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGAAG TCCTGGGAGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGG TGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGTTTGG GGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGTTTGGGGGGTGAGGC CCCTTGGGAAGTCCTGGGAGTGTGTGTTTGGGGGGTGAGGCCCCTTGGGA CGTCCTGGGAGGTGTGGGTGGTGGGCTGAGGCCCCTTGGGAAGTCCTGGG AGGTGTGTTTGGGGGGTGAGGCCCCTTGGGACGTCCTGGGAGGTGTGGGT GGTGGGCTGAGGCCCCTTGGGAAGTCCTGGGAGGTGTGGGTGGTGGGCTG AGGCCCCTTGGGACGTCCTGGGAGGTGTGCGTGGTGGGCTGAGGCCCCTT GGGA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3			chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(927): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	934	c.-42 others(945): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DOCK1_chr10_126900428_127457516	126948243	G G	GTGGTGAT others(927): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0027 a0001c0009t0002g0027	1	136	0.0074	934	c.47- others(951): Show c.47-22389_47-22388insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT GGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(927): Show CCACACCATTCCACACCATGCCACACACCACACACACACACTCCACACCA AACCACACACAACCACTCCACACACACATCACACACCACACACCACTCCA CACACACACACACCACACACACCACACATCACACACACCATTCCACCACA CAACACACCACACATCACTCCACAAAACACCACACACACCATGCCACACC ACTCCACACACAGCACACCACTCCACACACAGCACACCACTCCACACACA CCACACACCACTCCACACGCCACAGCACACCACACATCACACCACACACT ACCACACCACACACCACTCCACACCACATACCACTCCACACCAAAACATA CCACACCACGCCACACCACTCCACACAACATGCCACACACCAGTCCACAC CAAACCACACACCACACACCACACATCACTCCACACCCCAAACACACCAC ACACCACTCCACACACACCACACACCACTCCACACCAAACCACACCACTC CACACCAAACCACACCATGACACACCAAACCACACCACACACATCACACC ACACCACACCATGCCATATGACTCCACACACCAGACCACACCACATACCA CTCCACACCACACCCCACTCCACACCACGCCACACACACACACACACACC CCACACACACCAAACCACACCACACCACACCACTCCACACACTTCACACC AAACCACACACCCCACCACACACACTCCACACCAAACCACATCACACCAC ACCACTCCACACCATACACATCACATACCACACCACACACTGCTCCACAC AACACATCGCACCACTCCACACCAAACCACACACCATGCCACACCACTCC ATATGACACACACCACGGCACACACCACATACTACACTCCACACCAAACC ACACACCATATACCACACCACACCACACACCACTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0048 a0001c0004t0002g0048	1	314	0.0032	934	c.310 others(949): Show c.310-949_310-948insAAGTGGTGTGTGGTGTGGTGTGGTATATGG TGTGTGGTTTGGTGTGGAGTGTAGTATGTGGTGTGTGCCGTGGTGTGTGT CATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGCGAT GTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGTGGA GTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTGTGT GGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTTGGTGTG TGTGGGGTGTGTGTGTGTGTGTGTGGCGTGGTGTGGAGTGGGGTGTGGTG TGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGCATGGTGT GGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGTCATGGTGTGGTTTG GTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGTGTGGAGT GGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTGGTGTGTG GTTTGGTGTGGACTGGTGTGTGGCATGTTGTGTGGAGTGGTGTGGCGTGG TGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGTGTGTGGT GTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGGAGTGGTG TGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGCTGTGTGT GGAGTGGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATGTGTGGTG TGTTGTGTGGTGGAATGGTGTGTGTGATGTGTGGTGTGTGTGGTGTGTGT GTGTGTGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTGTG TGGTTTGGTGTGGAGTGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGG TGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
GOLM1_chr9_86021146_86104558	86053539	C C	CCACACCA others(927): Show CCACACCATTCCACACCATGCCACACACCACACACACACTCCACACCAAA CCACACACAACCACTCCACACACACATCACACACCACACACCACTCCACA CACACACACACCACACACACATCACACACACCATTCCACCACACAACACA CCACACATCACTCCACAAAACACCACACACACCATGCCACACCACTCCAC ACACAGCACACCACTCCACACACAGCACACCACTCCACACACACCACACA CCACTCCACACGCCACAGCACACCACACATCACACCACACACTACCACAC CACACACCACTCCACACCACATACCACTCCACACCAAAACATACCACACC ACGCCACACCACTCCACACAACGTGCCACACACCAGCCCACACCAAACCA CACACCACACACCACACATCACTCCACACCCCAAACACACCACACACCAC TCCACACACACCACACACCACTCCACACCAAACCACACCACTCCACACCA AACCACACCACTCCACACCAAACCACACCACACACATCACACCACACCAC ACCATGCCATATGACTCCACACACCAGACCACACCACATACCACTCCACA CCACACCCCACTCCACACACCATGCCACACACACTACACCACACACACCA CACACACCAAACCACACCACACCACACCACTCCACACACTTCACACCAAA CCACACACCCCACCACACACACTCCACACCAAACCACATCACACCACACC ACTCCACACCATACACATCACATACCACACCACACACTGCTCCACACAAC ACATCGCACCACTCCACACCAAACCACACACCATGCCACACCACTCCATA TGACACACACCACGGCACACACCACATACCACACTCCACACCAAACCACA CCACACCATATACCACACCACACCACACACCACTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0141 a0002c0010t0002g0141	1	314	0.0032	934	c.310 others(949): Show c.310-949_310-948insAAGTGGTGTGTGGTGTGGTGTGGTATATGG TGTGGTGTGGTTTGGTGTGGAGTGTGGTATGTGGTGTGTGCCGTGGTGTG TGTCATATGGAGTGGTGTGGCATGGTGTGTGGTTTGGTGTGGAGTGGTGC GATGTGTTGTGTGGAGCAGTGTGTGGTGTGGTATGTGATGTGTATGGTGT GGAGTGGTGTGGTGTGATGTGGTTTGGTGTGGAGTGTGTGTGGTGGGGTG TGTGGTTTGGTGTGAAGTGTGTGGAGTGGTGTGGTGTGGTGTGGTTTGGT GTGTGTGGTGTGTGTGGTGTAGTGTGTGTGGCATGGTGTGTGGAGTGGGG TGTGGTGTGGAGTGGTATGTGGTGTGGTCTGGTGTGTGGAGTCATATGGC ATGGTGTGGTGTGGTGTGATGTGTGTGGTGTGGTTTGGTGTGGAGTGGTG TGGTTTGGTGTGGAGTGGTGTGGTTTGGTGTGGAGTGGTGTGTGGTGTGT GTGGAGTGGTGTGTGGTGTGTTTGGGGTGTGGAGTGATGTGTGGTGTGTG GTGTGTGGTTTGGTGTGGGCTGGTGTGTGGCACGTTGTGTGGAGTGGTGT GGCGTGGTGTGGTATGTTTTGGTGTGGAGTGGTATGTGGTGTGGAGTGGT GTGTGGTGTGGTAGTGTGTGGTGTGATGTGTGGTGTGCTGTGGCGTGTGG AGTGGTGTGTGGTGTGTGTGGAGTGGTGTGCTGTGTGTGGAGTGGTGTGC TGTGTGTGGAGTGGTGTGGCATGGTGTGTGTGGTGTTTTGTGGAGTGATG TGTGGTGTGTTGTGTGGTGGAATGGTGTGTGTGATGTGTGTGTGGTGTGT GTGTGTGTGGAGTGGTGTGTGGTGTGTGATGTGTGTGTGGAGTGGTTGTG TGTGGTTTGGTGTGGAGTGTGTGTGTGGTGTGTGGCATGGTGTGGAATGG TGTG	GOLM1	ENSG00000135052.16	transcript	ENST00000388712.7	protein_coding	3/9			chr9	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(927): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAG GGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	204	0.0049	934	c.978 others(951): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAG GGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAG GGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCA GGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(927): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCG CCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCC CCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCC CCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGC CCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCA CCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCAC AGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCC CCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	312	0.0032	934	c.-41 others(949): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCACAGCCACCC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCC CCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCC CCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACA GCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGC CCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(927): Show TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATATATATATATATCCA TATATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATATCCATATATATATATCCATATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATATCCATATATATATATCCATATATATATCCATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATCCATATATATATATATC CATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	284	0.0035	934	c.126 others(951): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATGGATATATATATATATGGATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATATGGATATATATATGGATATATATATGGATATATATATATGGATATAT ATATATATGGATATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATATGG ATATATATATATGGATATATATATATATATGGATATATATATATGGATAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATATGGATATATATATATATGGATATATATATATATGGATATATAT ATATATGGATATATATATATATGGATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATATGG ATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124507010	T T	TGTAGGGG others(927): Show TGTAGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG CAGGGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGG GAGGGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGG GGGATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGATAGGGAGT ATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	260	0.0039	934	c.624 others(951): Show c.624+8882_624+8883insGTAGGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTCGGGGG GTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCAGGGGG ATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAG GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTT CAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(927): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0036 a0002c0003t0003g0036	1	296	0.0034	934	c.368 others(951): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MED16_chr19_862963_898187	871891	C C	CGGGGAGC others(927): Show CGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGG GAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGC GGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGG GAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGG GGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAG CGGGGGAGCGGGGAGGGAGGGGAGCGGGGGAGCGGGGAGGGAGGGGAGCG GGGAGCGGGGAGGGAGGGGAGCGGGGAGCGGGGAGGGAGGGGAGCGGGGA GCGGGGAGGGAGGGGAGCGGGGAGCGGGAGGGAGGGGAGCGGGGAGCGGG GAGGGAGGGGAGAGGGGAGCGGGGAGGGAGGGGAGAGGGGAGCGGGGAGG GAGGGGAGAGGGGAGCGGGGAGGGAGGAGAGAGGGGAGCGGGGAGGGAGG AGAGAGGGGAGCGGGGAGGAGAGAGGGGAGCGGGGAGGAGAGAGGGGAGC GGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGAGG GGAGCGGGGAGGAGAGAGGGGAGCGGGGAGGAGAGAGGGGGAGGAGAGAG GGGAGCGGGGGGGAGCGGGGGGGAGCGGGGGGGAGCGGGGGGGAGCGCGG GGAGGGGCGGGGGGGAGCGGGGAGGGGCGGGGGGGAGCGGGGAGGGGCGG GGGCGGGGGCGGGGAGGGGCGGGGGCGGGGGCGGGGAGGGGCGGGGGCGG GGAGGGGCGGGGGCGGCGGGGGGGAGAGGGGGCGGGGGGGAGAGGGGCGG GGCGGGCGGGGGGGAGAGGGGCGGGGCGGGCGGGGGGGGGGAGAGGGGCG GGGCGGGCGGGGGGGAGAGGGGAGGGGCGGGCGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0051 a0004c0010t0001g0051	1	56	0.0179	934	c.209 others(949): Show c.2098+34_2098+35insCCCGCCCGCCCCTCCCCTCTCCCCCCCGCC CGCCCCGCCCCTCTCCCCCCCCCCGCCCGCCCCGCCCCTCTCCCCCCCGC CCGCCCCGCCCCTCTCCCCCCCGCCCCCTCTCCCCCCCGCCGCCCCCGCC CCTCCCCGCCCCCGCCCCTCCCCGCCCCCGCCCCCGCCCCTCCCCGCCCC CGCCCCCGCCCCTCCCCGCTCCCCCCCGCCCCTCCCCGCTCCCCCCCGCC CCTCCCCGCGCTCCCCCCCGCTCCCCCCCGCTCCCCCCCGCTCCCCCCCG CTCCCCTCTCTCCTCCCCCTCTCTCCTCCCCGCTCCCCTCTCTCCTCCCC GCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCTCTCC TCCCCGCTCCCCTCTCTCCTCCCCGCTCCCCTCTCTCCTCCCCGCTCCCC TCTCTCCTCCCTCCCCGCTCCCCTCTCTCCTCCCTCCCCGCTCCCCTCTC CCCTCCCTCCCCGCTCCCCTCTCCCCTCCCTCCCCGCTCCCCTCTCCCCT CCCTCCCCGCTCCCCGCTCCCCTCCCTCCCGCTCCCCGCTCCCCTCCCTC CCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCCG CTCCCCGCTCCCCTCCCTCCCCGCTCCCCCGCTCCCCTCCCTCCCCGCTC CCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCC GCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTC CCCTCCCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCC TCCCCGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCC CGCTCCCCGCTCCCCTCCCTCCCCGCTCCCCGCTCCCCTCCCTCCCCGCT CCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(927): Show CCTCCTCTCTCCTCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCTCC CCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCCCTCCTCTCTCCT CCCCTCCCCTCCCCTCCTCTCTCCTCCCCCTCCCCTCCTCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCTCCCCTCCCCTCCCCTCCCTCTCTCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCTCCCCCTCCCCTCCCCTCCTCTCT CCCCTCCCCTCCCCTCTCTCCTCCGCTCTCCGCTCCCCTCTTCCTCCACT CCTCTCCCCCTCCCTTCTCCCTCTCCTCCCCTCCTCCTCCTCCCTCCCTT CCCCTCTCCTCACCCCCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCC TCTCTCCTCCGCTCCCCTCCCCTCTCCTCCCTCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCTCTCTCCTCCCCTCTCCCCTCTCCTCCGCTCCTCTC CCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCTCTCCCCT CTCCCTCTCCTCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCTCCTCCCCTCCCCTCGTCCTCCTCTCCCTCCCCTCCCCT CTCCTCCACTCCTCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCT CTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCCTCC TCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCGCCACGG CTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	318	0.0031	934	c.-49 others(945): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGCGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGG AGGAGGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGA GAGAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGGAGGA GAGGGGAGGGGAGGGAGAGGAGGACGAGGGGAGGGGAGGAGAGAGGAGGG GAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGA GAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGAGGAGAGGGA GAGGGGAGAGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGG GGAGAGGAGCGGAGGAGAGGGGAGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGGGAGGAGAGGGGAGGGGAGCGGAGGAGAG AGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGGGGGTGAGGAGAGGG GAAGGGAGGGAGGAGGAGGAGGGGAGGAGAGGGAGAAGGGAGGGGGAGAG GAGTGGAGGAAGAGGGGAGCGGAGAGCGGAGGAGAGAGGGGAGGGGAGGG GAGAGAGGAGGGGAGGGGAGGGGGAGGAGGAGAGAGGAGGGGAGGGGAGG GGAGGAGAGAGGGAGGGGAGGGGAGGGGAGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGAGAGAGAGGAGGGGAGGGGGAGGAGAGAGGAGGGGAGGGGAGGG GAGGAGAGAGGAGGGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAG GGGAGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(927): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCC CCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCACTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCT CCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCC CTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTC CTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCC CTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTG CTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCC CTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCT CTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTC CTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGG CTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0002 a0001c0028t0002	a0001c0028t0002g0121 a0001c0028t0002g0121	1	318	0.0031	934	c.-49 others(945): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGTGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGGAG GGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(927): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAG AAGGGGAGGGGCAGGGGGAGGGGGAAAAGGGGCAGGGAAGGGGGGAAAAG GGGCGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGG GTGAGGGGAAGGGGGGAAGGGGAAAGGGGGGTGAGGGGAGGATGGAGGGG GAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGG GAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGAGGGGGA GGGAGGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGG AGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGG GGAGGGGAGGGGAGTGGAGGGGGAGGGGAGGGAGGAGGGATGGGAGTGGA GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGA GGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	272	0.0037	934	c.250 others(949): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCTCCACTCCCATCCCTCCTCCCTCCCCTCCCCCTCCACTCCCCTCC CCTCCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTC CCCCTCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTCCC CTCCCTCCCCCTCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTCTT CCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTT CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCATCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCCTCCCCTCC CCCTCCCCCTCCATCCTCCCCTCACCCCCCTTTCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCC CGCCCCTTTTCCCCCCTTCCCTGCCCCTTTTCCCCCTCCCCCTGCCCCTC CCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCT CCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(927): Show GAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGCGGAAAGG GGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGGCGGGGAA GGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGA GGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGGGGGAGGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGAGGGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGG GAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGA GGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAG GGAGGGAGGGGAGTGGAGGGGGAGGGAGGAGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGG AGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAG GGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGA GGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	272	0.0037	934	c.250 others(949): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCCT CCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCT CCCCCTCCCCCTCCACTCCCCTCCCTCCTCCCTCCCCCTCCACTCCCCTC CCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTC TTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTC CATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCC CTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCT CCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(927): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTA TATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATAT ATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTT TATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATAT ATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTAT TTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTAT ATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTT ATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0100 a0001c0001t0004g0100	1	330	0.0030	934	c.-5+ others(949): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATATA TATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTAT ATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATATA TAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATAAAAAATATA TATCAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAA AATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NEU4_chr2_241804193_241822413	241805556	A A	ACCCTCCC others(927): Show ACCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCA GGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTCCCTCCCTCCCCCCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCAGCCCAG GGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCTTCCCTCCTCCCTCAGCCCAGGGACC TCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCTCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0174 a0002c0003t0002g0174	1	319	0.0031	934	c.-37 others(945): Show c.-3722_-3721insCCCTCCCTCCCCCTCAACCCAGAGACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAACCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCTC CCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCT CCCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTC CGCAGGCCACCTTCCCTCCCTCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCTCC CTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCTCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3636		chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(927): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	356	0.0028	934	c.91+ others(947): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGG GG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	810309	G G	GCGGCGTG others(927): Show GCGGCGTGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCC GTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGA GTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTAC GAATCTGTGGGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACG TTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGTGTG TACGTTACAAGTCTGTGAATGGCGTGCACGTTACGAGTCTGTGAGTGGCG TGCACATTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGG CGTGCACGTTACGAGTCCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGA ATGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACATTACGAGTCTGT GAGTGGCGTGCACGTTACCAGTCCGTGTGAGTGGTGTGCACGTTACGAGT CCGTGTGAGTGGTGTGTACGTTACAAGTCTGTGAGTGGCGTGCACGTTAC GAGTCTGTGAGTGGCGTGCACGTTGAGTCCGTGTGAGTGGTGTGCACGTT ACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTGAGTCCGTGTGAGTGGTGTGCACGTTACGAGTCCGTGTGAGTGGCGTG CACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGTGGGTGGTG TGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACAAGTCTGTGAGT GGTGTGCACGTTACGAGTCTGTGACTGGTGTGCACGTTACGAGTGCGTGT GAGTGGCGTGCACGTTACGAGTCCGTGTGAGTGGCGTGCACGTTACGAGT CCGTGTGAGTGGTGTGCATGTTACGAGTCTGTGAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0200 a0001c0001t0025g0200	1	242	0.0041	934	c.821 others(951): Show c.821-5063_821-5062insGTCACAGACTCGTAACATGCACACCACT CACACGGACTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCAC GCCACTCACACGCACTCGTAACGTGCACACCAGTCACAGACTCGTAACGT GCACACCACTCACAGACTTGTAACGTGCACGCCACTCACACGGACTCGTA ACGTGCACACCACCCACAGACTCGTAACGTGCACGCCACTCACAGACTCG TAACGTGCACGCCACTCACACGGACTCGTAACGTGCACACCACTCACACG GACTCAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACA GACTCGTAACGTGCACACCACTCACACGGACTCAACGTGCACGCCACTCA CAGACTCGTAACGTGCACGCCACTCACAGACTTGTAACGTACACACCACT CACACGGACTCGTAACGTGCACACCACTCACACGGACTGGTAACGTGCAC GCCACTCACAGACTCGTAATGTGCACGCCACTCACAGACTCGTAACGTGC ACGCCATTCACAGACTTGTAACGTACACACCACTCACACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ATGTGCACGCCACTCACAGACTCGTAACGTGCACGCCATTCACAGACTTG TAACGTACACACCACTCACACGGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACCCA CAGATTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCACT CACAGACTCGTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCA CTCACACGGACTCGTAACGTGCACGCCACTCACACGGACTCTTAACGTGC ACGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(927): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGG GAGGAGGGGGGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGAGGGGG AGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAG AGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCG AGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAG AGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAG AGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGG CGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTG GGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCA AGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGG AGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAG AGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	308	0.0033	934	c.371 others(951): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCC TCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCCCC CCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCT CCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTC TCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCC CCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCC TTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTT CTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCT CTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(927): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGA GAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGG AGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGGGAGGGGGAGAGGG GGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAA GGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAG AGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAG AGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGG CGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTG GGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCA AGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGG AGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAG AGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	308	0.0033	934	c.371 others(951): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTC TTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCT CCCCCTCTCCCCCTCCTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCC CCTCTCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTCCTCCCCCTCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCT CCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTC TCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCC CCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCC CCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCC TTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTT CTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCT CTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
POLG_chr15_89311320_89339824	89325147	T T	TGAGTGAG others(927): Show TGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAG TGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAG TGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	398	0.0025	934	c.194 others(951): Show c.1949+302_1949+303insTCTCACTCACTCACTCTCTCACTCTCTC ACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCTC ACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCTCTCACTCACTC ACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTC TCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTC ACTCACTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCTCTCACTCACTCACTCACTCACTCTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACACTCACTCACTCACTCACTCACTCTCTCACTC TCACTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTC TCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCAC TCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(927): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	308	0.0033	934	c.-75 others(953): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATA TATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCT ATAAACTAAATATATAAACATGTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATAT ATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATTTATCTATAAATTAAATATATAAATATA TATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAA TATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTAT CTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATATATTTATAAACTAAATATGTAAATAT ATATTTATAAACTAAATAAATATATATTTATAAACTAAATATATAAATAT ATATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(927): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGACGGTGGTGATGGTGGTGGTGATGGT GATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGGTAGTGA TGGTGATGGTGACGATGGTGGTGGTGGTGGTGATGGTGATGATGGTGATG GTGGTGATGATGGTGATGCTGATGGTGGTGGTGATGATGGTGATGGTGAG GATGGTGGTGATGGTGGTCATGATGGTGATGATGGTGGTGATGATGATGG TGATGGTGGTGGTGATGATGGTGATGGTAGTGATGATGGAGGTGACGGTG ATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGATGGTGGTGAT GGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATGGTGG TGGTGATGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGTG ATGATGGTGATGGTAGTGATGATGGTGGTGGTGGTGATGGTCATGATGGT GATGGTGGTGATGATGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTGG TCATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGGTGGTG GTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GATGACGGTGGTGATGGTGATGGTGGCAATGGTGATGATGTGATGATGGT GGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGGT GATGGCGATGGTGATGATGGTGGTGATGATAGTGATGGCGATGATGTGAT GGTGGTGGTGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGGTGAT GATAGTGATGGCGATGGTGATGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	934	c.-48 others(945): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGACGGTGGTGAT GGTGGTGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGA TGATGGTGGTAGTGATGGTGATGGTGACGATGGTGGTGGTGGTGGTGATG GTGATGATGGTGATGGTGGTGATGATGGTGATGCTGATGGTGGTGGTGAT GATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGATGATGG TGGTGATGATGATGGTGATGGTGGTGGTGATGATGGTGATGGTAGTGATG ATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGT GGTGATGGTGGTGATGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGA TGGTGATGATGGTGGTGGTGATGGTGATGATGATGGTGATGGTAGTGATG ATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGTGGTGGT GATGGTCATGATGGTGATGGTGGTGATGATGGTGGTGACGGTGGTGGTGG TGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTGATGATG GTGATGGTGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGACGGTGGTGATGGTGATGGTGGCAATGGTGA TGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGATGAT GGTGGTGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAGTGA TGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGATGAT GGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGATGGTGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
SPIRE2_chr16_89823475_89876319	89852189	C C	CCCATGGC others(927): Show CCCATGGCCCATCTTCCATCCTCCCCCACCCCCCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTC CATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCC ACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGAT CCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCA TCTTCCATCCTCTCCCCACCCACCAGATCCCCTGGCCCATCTTCCATCCT CCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCCTG GCCCATCTTCCATCCTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCA CCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCCTGGCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCA TCTTCCATCCTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCTCTCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	356	0.0028	934	c.645 others(951): Show c.645+1555_645+1556insACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCC ACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCTCCCCACCCACCAGAT CCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCA TCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCC TCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCACCCC CCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCAT GGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTC CATCCTCTCCCCACCCACCAGATCCCCTGGCCCATCTTCCATCCTCCCCC ACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGAT CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCCTGGCCCA TCTTCCATCCTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTC CCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTG GCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTC CATCCTCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCC ACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGAT CCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCA TCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCC TCCCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(927): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGG AGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGG AAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAA GGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGA AAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGG GGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0007 a0001c0001t0032g0007	1	322	0.0031	934	c.597 others(951): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCC TCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCC CTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTT CCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTT CCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(927): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATATATATTATACATTATATAACT ATATATTATATATATATATTATATATTATATAACATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACATATATTAT ATATAATATATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	268	0.0037	934	c.73 others(945): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATTATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATATATATT ATACATTATATAACTATATATTATATATATATATTATATATTATATAACA TATATTATATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACATATATTATATATAATATATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(927): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATATTATATAACTATATATTATATATAA TATATATATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATATATATTATATATTATATAACT ATATATTATATATATATATTATATATTATATAACATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATATTATATATTATAT AACTATATATTATATATATATTATATATTATATAACTATATATTATATAT AATATATATATTATATATTATATATAATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATAACATATATTAT ATATAATATATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18965.hp1 NA19085.hp2 others(1): Show NA18957.hp1 NA18965.hp1 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0048 a0001c0002t0002g0051 others(1): Show a0001c0002t0002g0025 a0001c0002t0002g0048 a0001c0002t0002g0051 a0001c0002t0002g0066	4	268	0.0149	934	c.73 others(945): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATTATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATATTATATATTATATAACT ATATATTATATATAATATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATATATATT ATATATTATATAACTATATATTATATATATATATTATATATTATATAACA TATATTATATATATATATTATATATTATATAACTATATATTATATATATA TATTATATATTATATAACTATATATTATATATATATTATATATTATATAA CTATATATTATATATAATATATATATTATATATTATATATAATATATATA TTATATATTATATAACTATATATTATATATAATATATATATTATATATTA TATAACATATATTATATATAATATATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(927): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAG GGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAG GAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGA GGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGG AGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGG GGCGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGA GAGAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGT GGGAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGA GAGAGAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAG GTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAG GGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGTGGGG CAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGG AGGTGGGAGGGGGGAGAGAAGGGAGTGAGGGGGAGAGAAGGAGGTGGGAG GTGGGGGAGAAGGAGGTGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	112	0.0089	934	c.638 others(949): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG CGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAAGGGGGTGAGGG GGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGTGGGGCA GAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAG GTGGGAGGGGGGAGAGAAGGGAGTGAGGGGGAGAGAAGGAGGTGGGAGGT GGGGGAGAAGGAGGTGGGAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGA GGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(927): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGG GAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGG GAGGGAGAGGACGTGGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAG GAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGG TGGTAGGGAGGGAGAGAAGGAGGTAGGAGGGGGAGAGAAGGTGGGAGGGG GAGAGAGAAGGAGATGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGAG AAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGAGAGAGAAGGA GGTGGGGGGAGACGAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGG AGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGGA GGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAAGGAGGT GGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGAAGGAGGTGGGGGGAGAG AAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGAGAAGGAGGTGGGAG GGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGC AGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGA GGTGAGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGG TGGGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19030.hp1 NA20129.hp1 HG01884.hp2 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0010 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0001g0010 a0001c0001t0004g0021 a0001c0001t0004g0022	3	112	0.0268	934	c.638 others(949): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGA GGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGA GGGAGAGGACGTGGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTG GTAGGGAGGGAGAGAAGGAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGA GAGAGAAGGAGATGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAA GGAGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGAGAGAGAAGGAGG TGGGGGGAGACGAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAG AGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGG AGGTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGG GGGGAGAGGAGGAGGTGGGAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAA GGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGAGAAGGAGGTGGGAGGG GGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAG AGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGG TGAGAGGGGGGAGAGAAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTG GGGAGAGAAGGAGGTGGGAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGA GGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TLCD5_chr11_120320299_120338686	120328678	A A	AGTGTGTG others(927): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTT TATGTATGCATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATT GTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATAT CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATC CCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGT GTTGTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGT CATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGT ATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATATTGTGTGTGTGTGTGTATGTGTTT GTATATGTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCAT ATTGTGTGTGTGTGTGTGTATGTGTATGTGTTTGTATATGTATGCATATC TGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAAT CCCTTGTAAGGATAACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATG TTTGTATATGTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGT CATAGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATAC CTGTGTCCTAATCCCTTCTAAGGATAACAGTCATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	432	0.0023	934	c.199 others(951): Show c.199+1068_199+1069insGTGTGTGTGTGTGTATGTTTATGTATGC ATACCTGTGTCCTAATCCCTTGTAAGGATAACAGTCATATTGTGTGTGTG TGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTATGTTTATGTATGCGTATCTGTGTCCTAATCCCTTCTAAG GATAACAGTCATATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTATAT GTATGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTATGTGTTTGTATATGTATG CATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGT GTGTGTGTGTGTGTATGTTTATGTATGCATATCTGTGTCCTAATCCCTTC TAAGGATAACAGTCATATTGTGTGTGTGTGTGTATGTGTTTGTATATGTA TGCGTATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATATTGTGTGT GTGTGTGTGTATGTGTATGTGTTTGTATATGTATGCATATCTGTGTCCTA ATCCCTTCTAAGGATAACAGTCATAGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCTAATCCCTTGTAA GGATAACAGTCATTTTGTGTGTGTGTGTGTGTGCGTGTATGTTTGTATAT GTATGCATATCTGTGTCCTAATCCCTTCTAAGGATAACAGTCATAGTGTG TGTGTGTGTGTGTGTGTGTGTGTATGTTTATGTATGCATACCTGTGTCCT AATCCCTTCTAAGGATAACAGTCATTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	TLCD5	ENSG00000181264.9	transcript	ENST00000375095.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TTATGCAA others(927): Show TTATGCAAGTAGTTCAGCATTTTTTTTTTTCTTTTGAGACTCAGTCTTGC TTTGTGGTCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACC TCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCT GGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGC AAAGGCGACGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT CAAGTGATCTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATG AGCCACCACTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTT CAAAATAAAGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTT TAGGGTAGGAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAAT GGTATCAGGAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGAT TGGTGGAGCTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAG GAGACCTTGACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTC TGAAAAATCATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCAC TTTGTCTCACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATT TCATGTTTAGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCC ACTAAAAGTCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGG GTTAGGTGCAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCT CCTCGCAATATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAAT TAAAACTTAGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0181 a0001c0002t0006g0181	1	330	0.0030	934	c.-35 others(945): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTGAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TGCTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAATGCTGAACTACTTGCATA	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TTATGCAA others(927): Show TTATGCAAGTAGTTCAGCATTTTTTTTTTTCTTTTGAGACTCAGTCTTGC TTTGTGGTCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACC TCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCT GGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGT AAAGGCGACGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT CAAGTGATCTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATG AGCCACCACTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTT CAAAATAAAGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTT TAGGGTAGGAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAAT GGTATCAGGAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGAT TGGTGGAGCTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAG GAGACCTTGACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTC TGAAAAATCATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCAC TTTGTCTCACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATT TCATGTTTAGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCC ACTAAAAGTCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGG GTTAGGTGCAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCT CCTCGCAATATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAAT TAAAACTTAGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01884.hp2 HG01993.hp1 others(22): Show HG00323.hp2 HG01884.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02886.hp1 HG03516.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0004 others(18): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0013 a0001c0002t0020 a0001c0002t0031 a0001c0002t0043 a0001c0002t0044 a0001c0002t0047 a0001c0002t0048 a0001c0002t0050 a0001c0002t0051 a0001c0002t0054 a0001c0002t0082 a0001c0002t0109 a0001c0002t0110 a0001c0002t0111 a0001c0002t0113 a0001c0002t0127	a0001c0001t0001g0191 a0001c0001t0012g0194 a0001c0002t0004g0189 others(22): Show a0001c0001t0001g0191 a0001c0001t0012g0194 a0001c0002t0004g0189 a0001c0002t0006g0188 a0001c0002t0006g0193 a0001c0002t0006g0201 a0001c0002t0007g0172 a0001c0002t0007g0183 a0001c0002t0013g0196 a0001c0002t0020g0185 a0001c0002t0031g0202 a0001c0002t0043g0197 a0001c0002t0044g0182 a0001c0002t0047g0174 a0001c0002t0047g0310 a0001c0002t0048g0309 a0001c0002t0050g0192 a0001c0002t0051g0198 a0001c0002t0054g0199 a0001c0002t0082g0195 a0001c0002t0109g0180 a0001c0002t0110g0186 a0001c0002t0111g0173 a0001c0002t0113g0184 a0001c0002t0127g0311	25	330	0.0758	934	c.-35 others(945): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTGAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAATGCTGAACTACTTGCATA	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TTATGCAA others(927): Show TTATGCAAGTAGTTCAGCATTTTTTTTTTTCTTTTGAGACTCAGTCTTGC TTTGTGGTCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACC TCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCT GGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGT AAAGGCGACGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT CAAGTGATCTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATG AGCCACCACTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTT CAAAATAAAGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTT TAGGGTAGGAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAAT GGTATCAGGAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGAT TGGTGGAGCTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAG GAGACCTTGACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTC TGAAAAATCATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCAC TTTGTCTTACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATT TCATGTTTAGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCC ACTAAAAGTCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGG GTTAGGTGCAGAAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCT CCTCGCAATATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAAT TAAAACTTAGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02970.hp1 HG02145.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0058 a0001c0001t0020g0059 a0001c0001t0020g0058 a0001c0001t0020g0059	2	330	0.0061	934	c.-35 others(945): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTTCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAATGCTGAACTACTTGCATA	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TTATGCAA others(927): Show TTATGCAAGTAGTTCAGCATTTTTTTTTTTCTTTTGAGACTCAGTCTTGC TTTGTGGTCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACC TCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCT GGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGT AAAGGCGACGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT CAAGTGATCTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATG AGCCACCACTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTT CAAAATAAAGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTT TAGGGTAGGAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAAT GGTATCAGGAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGAT TGGTGGAGCTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAG GAGACCTTGACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTC TGAAAAATCATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCAC TTTGTCTTACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATT TCATGTTTAGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCC ACTAAAAGTCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGG GTTAGGTGCAGGAATAGGATTCTGTGGAACTCTGTCCAAAACGTACCCCT CCTCGCAATATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAAT TAAAACTTAGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02280.hp2 others(16): Show HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02896.hp2 HG02965.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0095 a0001c0001t0096 others(7): Show a0001c0001t0005 a0001c0001t0095 a0001c0001t0096 a0001c0002t0002 a0001c0002t0007 a0001c0002t0032 a0001c0002t0114 a0001c0002t0115 a0001c0002t0116 a0001c0002t0128	a0001c0001t0005g0171 a0001c0001t0005g0175 a0001c0001t0005g0176 others(15): Show a0001c0001t0005g0171 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0178 a0001c0001t0005g0316 a0001c0001t0095g0179 a0001c0001t0096g0177 a0001c0002t0002g0187 a0001c0002t0002g0190 a0001c0002t0007g0002 a0001c0002t0007g0014 a0001c0002t0007g0015 a0001c0002t0032g0204 a0001c0002t0032g0205 a0001c0002t0114g0016 a0001c0002t0115g0017 a0001c0002t0116g0018 a0001c0002t0128g0203	19	330	0.0576	934	c.-35 others(945): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACGTTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAATGCTGAACTACTTGCATA	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
TMEM192_chr4_165065608_165117860	165116330	T T	TTATGCAA others(927): Show TTATGCAAGTAGTTCAGCATTTTTTTTTTTCTTTTGAGACTCAGTCTTGC TTTGTGGTCCAGGCTGGAGTGCAGTGGCATGGTCTCAGCTCACTGCTACC TCCACCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAGTAGCT GGGATTACAGGCACCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGT AAAGGCGACGTTCCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCT CAAGTGATCTGCCCACCTCTACTTTCAAAAGTGCTGGGATTACAGGCATG AGCCACCACTCCTGGCCAGCAATTTTTTTCTTCTGCAGTTTGAAAATTTT CAAAATAAAGTCAAAAGGGAAAAGATAGGCTAAAGAGCTTGCTTACACTT TAGGGTAGGAATAATCTGTGATTGCCTGGTATAAGCCAGAAGAAAGAAAT GGTATCAGGAAATAGAATTCTGAACTTTACAAGGTTTAATAGAAGGAGAT TGGTGGAGCTGGAGAGTGAGGTTGTCAGACGGAGAGGTGCAATTCAGTAG GAGACCTTGACCACTGGGAAAAATGATGAGTGGGAGAAAAGGATGTTCTC TGAAAAATCATGGGTGACTCTACAGAAGGAAGAAGGGGAACAAGATCCAC TTTGTCTTACCATTTGGTTTAGACCTTGTCTTGCAAGAATAGGTGCTATT TCATGTTTAGTGTGTTCAGGTGAAAAGTTAAAGGAAAGTATATAATTGCC ACTAAAAGTCATCCATATTCTTTCTCAGGGAATATATGCAGAAACAATGG GTTAGGTGCAGGAATAGGATTCTGTGGAACTCTGTCCAAAATGTACCCCT CCTCGCAATATATTTGTTTAGTACTTCAGGCATAGATAATATACAGGAAT TAAAACTTAGTCCACACAGGGAAATAGTATTTAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02257.hp2 HG02698.hp1 others(11): Show HG01081.hp2 HG02257.hp2 HG02698.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0043 a0001c0001t0046 others(10): Show a0001c0001t0022 a0001c0001t0043 a0001c0001t0046 a0001c0001t0083 a0001c0001t0122 a0001c0001t0125 a0001c0002t0022 a0001c0002t0040 a0001c0002t0046 a0001c0002t0049 a0001c0002t0119 a0001c0002t0124 a0001c0002t0129	a0001c0001t0022g0022 a0001c0001t0043g0021 a0001c0001t0046g0024 others(11): Show a0001c0001t0022g0022 a0001c0001t0043g0021 a0001c0001t0046g0024 a0001c0001t0083g0315 a0001c0001t0122g0020 a0001c0001t0125g0133 a0001c0002t0022g0061 a0001c0002t0040g0060 a0001c0002t0046g0268 a0001c0002t0049g0267 a0001c0002t0049g0270 a0001c0002t0119g0025 a0001c0002t0124g0023 a0001c0002t0129g0269	14	330	0.0424	934	c.-35 others(945): Show c.-3558_-3557insTTTAAATACTATTTCCCTGTGTGGACTAAGTTTT AATTCCTGTATATTATCTATGCCTGAAGTACTAAACAAATATATTGCGAG GAGGGGTACATTTTGGACAGAGTTCCACAGAATCCTATTCCTGCACCTAA CCCATTGTTTCTGCATATATTCCCTGAGAAAGAATATGGATGACTTTTAG TGGCAATTATATACTTTCCTTTAACTTTTCACCTGAACACACTAAACATG AAATAGCACCTATTCTTGCAAGACAAGGTCTAAACCAAATGGTAAGACAA AGTGGATCTTGTTCCCCTTCTTCCTTCTGTAGAGTCACCCATGATTTTTC AGAGAACATCCTTTTCTCCCACTCATCATTTTTCCCAGTGGTCAAGGTCT CCTACTGAATTGCACCTCTCCGTCTGACAACCTCACTCTCCAGCTCCACC AATCTCCTTCTATTAAACCTTGTAAAGTTCAGAATTCTATTTCCTGATAC CATTTCTTTCTTCTGGCTTATACCAGGCAATCACAGATTATTCCTACCCT AAAGTGTAAGCAAGCTCTTTAGCCTATCTTTTCCCTTTTGACTTTATTTT GAAAATTTTCAAACTGCAGAAGAAAAAAATTGCTGGCCAGGAGTGGTGGC TCATGCCTGTAATCCCAGCACTTTTGAAAGTAGAGGTGGGCAGATCACTT GAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGGAACGTCGCCTT TACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAATCC CAGCTACTCCAGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGG AGGTAGCAGTGAGCTGAGACCATGCCACTGCACTCCAGCCTGGACCACAA AGCAAGACTGAGTCTCAAAAGAAAAAAAAAAATGCTGAACTACTTGCATA	TMEM192	ENSG00000170088.14	transcript	ENST00000306480.11	protein_coding		3471		chr4	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(927): Show TATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATACATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATAT ATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTAT AGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT AAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAGATACATGTTTATATAT TTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATAT ATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTT ATAGATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	250	0.0040	934	c.82+ others(949): Show c.82+5644_82+5645insTATATATTTATATATTTAGTTTATAAATAT ATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTT ATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTT TATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTT ATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGAT ACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(927): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCC CCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCCACTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCC CCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTT CCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCT CCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCC CTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTC CTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCC CTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTG CTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCC CTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCT CTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTC CTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGG CTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0111 a0001c0004t0003g0111	1	202	0.0050	934	c.53 others(945): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGTGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGGAG GGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAG AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VIPR2_chr7_159023175_159149867	159104793	T T	TGACCGGG others(927): Show TGACCGGGTGCCCGGCCTGCCCCAGTTCCTGACAGTATCCTCCCTCCTCC TGGCCAGGCCCTCACCACCAACGGTGACCTGGTGCCTGGCCTGCCCCAGT TCCTGACAGCACCTTCCCTCCTCCTGGCCAGCACCCTTGCCACTGATGGT GACCAGGTGCCCAGTCCAGTTCCTGACAGCACCCTACCTCCTCCTGGCAG CACCCTCCCTCCTCCCAGCAACGCCCTCCCTCCTCCCAGCCAGGCCCTCA CCACCGATGGTGACCGGGTACCCCACCTGCTCCAGTTCCTGGCAGCACTC TCCCTCCTCCCGACAGCACCCTCCCTCCTCCCAGCAACACCCTCCCTCCT CCCGACAGCACCCTCCCTCCTTCCAGCCAGGCCCTCACCACCGACGGTGA CTGGGTGCCCCACCCAGTTCCTGACAGCACCCTCTCTCCTCCCAGCCAGC ACCCTTGCCACCGATGGCGACCGGGTGCCCGGCCTGCCCCAGTTCCTGAC AGTATCCTCCCTCCTCCTGGCCAGGCCCTCACCACCAACGGTGACCTGGT GCCTGGCCTGCCCCAGTTCCTGACAGCACCTTCCCTCCTCCTGGCCAGCA CCCTTGCCACTGATGGTGACCAGGTGCCCAGTCCAGTTCCTGACAGCACC CTACCTCCTCCTGGCAGCACCCTCCCTCCTCCCAGCAACGCCCTCCCTCC TCCCAGCCAGGCCCTCACCACCGATGGTGACCGGGTACCCCACCTGCTCC AGTTCCTGGCAGCACTCTCCCTCCTCCCGACAGCACCCTCCCTCCTCCCA GCAACACCCTCCCTCCTCCCGACAGCACCCTCCCTCCTTCCAGCCAGGCC CTCACCACCGACGGTGACTGGGTGCCCCACCCAGTTCCTGACAGCACCCT CTCTCCTCCCAGCCAGCACCCTTGCCACCGATGGC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0146 a0001c0016t0002g0146	1	336	0.0030	934	c.260 others(949): Show c.260-940_260-939insGCCATCGGTGGCAAGGGTGCTGGCTGGGAG GAGAGAGGGTGCTGTCAGGAACTGGGTGGGGCACCCAGTCACCGTCGGTG GTGAGGGCCTGGCTGGAAGGAGGGAGGGTGCTGTCGGGAGGAGGGAGGGT GTTGCTGGGAGGAGGGAGGGTGCTGTCGGGAGGAGGGAGAGTGCTGCCAG GAACTGGAGCAGGTGGGGTACCCGGTCACCATCGGTGGTGAGGGCCTGGC TGGGAGGAGGGAGGGCGTTGCTGGGAGGAGGGAGGGTGCTGCCAGGAGGA GGTAGGGTGCTGTCAGGAACTGGACTGGGCACCTGGTCACCATCAGTGGC AAGGGTGCTGGCCAGGAGGAGGGAAGGTGCTGTCAGGAACTGGGGCAGGC CAGGCACCAGGTCACCGTTGGTGGTGAGGGCCTGGCCAGGAGGAGGGAGG ATACTGTCAGGAACTGGGGCAGGCCGGGCACCCGGTCGCCATCGGTGGCA AGGGTGCTGGCTGGGAGGAGAGAGGGTGCTGTCAGGAACTGGGTGGGGCA CCCAGTCACCGTCGGTGGTGAGGGCCTGGCTGGAAGGAGGGAGGGTGCTG TCGGGAGGAGGGAGGGTGTTGCTGGGAGGAGGGAGGGTGCTGTCGGGAGG AGGGAGAGTGCTGCCAGGAACTGGAGCAGGTGGGGTACCCGGTCACCATC GGTGGTGAGGGCCTGGCTGGGAGGAGGGAGGGCGTTGCTGGGAGGAGGGA GGGTGCTGCCAGGAGGAGGTAGGGTGCTGTCAGGAACTGGACTGGGCACC TGGTCACCATCAGTGGCAAGGGTGCTGGCCAGGAGGAGGGAAGGTGCTGT CAGGAACTGGGGCAGGCCAGGCACCAGGTCACCGTTGGTGGTGAGGGCCT GGCCAGGAGGAGGGAGGATACTGTCAGGAACTGGGGCAGGCCGGGCACCC GGTC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	3/12			chr7	TogoVar
VPS53_chr17_503668_719839	595543	C C	CTGGAGGA others(927): Show CTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTG ATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGG TCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGCCCCCCCTGGAG GAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATG CACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGAT CAATTTCCTGATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGG GAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAG TGCCCCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTT CCTGGTTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATG GGAAGGGGTCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGTCCC CCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGACCAATTTCCTCGTTT GATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGG TCTGGATCAATTTCCTCGTTTGATGATGCACTCTAGTGCCCTGCCCTGGA GGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGATGAT GCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGA TCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCCCTGGAGGAAGCT GGGAGATGGGAAGGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCT AGTGCCCTGCCCTCGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAAT TTCCTGATTTGATGATGCACTCTAGTGCCCCCCCT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0118 a0001c0001t0016g0118	1	232	0.0043	934	c.121 others(953): Show c.1218+6251_1218+6252insAGGGGGGGCACTAGAGTGCATCATCA AATCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCGAGGG CAGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTC CCATCTCCCAGCTTCCTCCAGGGGGGACACTAGAGTGCATCATCAAACCA GGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACA CTAGAGTGCATCATCAAATCAGGAAATTGATCCAGACCCCTTCCCATCTC CCAGCTTCCTCCAGGGCAGGGCACTAGAGTGCATCATCAAACGAGGAAAT TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAG TGCATCATCAAACGAGGAAATTGGTCCAGACCCCTTCCCATCTCCCAGCT TCCTCCAGGGGGACACTAGAGTGCATCATCAAACGAGGAAATTGATCCAG ACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCAT CAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAG GGCGGGGCACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCT TCCCATCTCCCAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATC AGGAAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGAC ACTAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCT CCCAGCTTCCTCCAGGGGGGGCACTAGAGTGCATCATCAAACCAGGAAAT TGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGACACTAGA GTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCCCAGC TTCCTCCA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
ZDHHC11B_chr5_705355_789729	754461	C C	CCTGTGAG others(927): Show CCTGTGAGCCTCCACCGTGCTCAGGGAAACATCTCTCTTCCTTGCATCTC CACCGTGCTCAGGGGAAACACCTCTCGTCTATGAGCCTCCACCGTGCTCA GGGGAAACACCTCTCATCTGTGAGCCTCCACCATGCTCAGCGGAAACACC TCTCGTCCTTGAGCCTCCACCGTGCTCAGGGGAAACACGTCTCATCTATG AGTCTCCACTGTGCTCAGGGGAAACACCTCTCATCTATGAGTCTCCACCA TGCTCAGGGGAAACATGTCTCATCTATGAGCCTCCACCGTGCTCAGGGGA AACACCTCTCGTCTATGAGCCTCCACTGTGCTCAGGGGAAACACCTCTCG CCTATGAGCCTCCACCATGCTCAGGGGAAACACCTCTCGCCTGTGAGCCT CCACCATGCTCAGTGGAAACACCTCTCATCTGTGAGCCTCCACCGTGCTC AGGGGAAACACCTCTCATCTATGAGCCTCCACCGTGCTCAGGAGAAACAC CTCTCGCCTGTGAGCCTCCACCATGCTCAGGGGAAAGACCTCTCGCCTGT GAGCCTCCACCATGCTCAGTGGAAACACCTCTCATCTGTAAGCCTCCACC GTGCTCAGGGAAACATCTCTCTTCCTTGCATCTCCACCGTGCTCAGGGGA AACACCTCTCGTCTATGAGCCTCCACTGTGCTCAGGGGAAACACCTCTCG CCTATGAGCCTCCACCATGCTCAGGGGAAACACCTCTCGCCTGTGAGCCT CCACCATGCTCAGTGGAAACACCTCTCATCTGTGAGCCTCCACCGTGCTC AGGGGAAACACCTCTCATCTATGAGCCTCCACCGTGCTCAGGAGAAACAC CTCTCGCCTGTGAGCCTCCACCATGCTCAGGGGAAAGACCTCTCGCCTGT GAGCCTCCACCATGCTCAGTGGAAACACCTCTCAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00597.hp1 others(27): Show HG00099.hp2 HG00323.hp2 HG00597.hp1 HG00639.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01192.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02056.hp1 HG02132.hp2 HG03239.hp2 HG03704.hp1 NA18747.hp1 NA18945.hp1 NA18950.hp2 NA18979.hp2 NA18983.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19043.hp1 NA19055.hp1 NA19068.hp1 NA19080.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0037 a0001c0003 a0001c0004 a0001c0037	a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 others(9): Show a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0028 a0001c0003t0033 a0001c0003t0035 a0001c0003t0067 a0001c0004t0002 a0001c0004t0006 a0001c0004t0028 a0001c0004t0049 a0001c0037t0010	a0001c0003t0002g0001 a0001c0003t0002g0056 a0001c0003t0002g0065 others(26): Show a0001c0003t0002g0001 a0001c0003t0002g0056 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0071 a0001c0003t0002g0073 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0082 a0001c0003t0002g0085 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0093 a0001c0003t0002g0141 a0001c0003t0006g0079 a0001c0003t0006g0084 a0001c0003t0010g0213 a0001c0003t0010g0247 a0001c0003t0010g0262 a0001c0003t0028g0026 a0001c0003t0033g0080 a0001c0003t0033g0081 a0001c0003t0035g0098 a0001c0003t0067g0246 a0001c0004t0002g0151 a0001c0004t0006g0083 a0001c0004t0028g0039 a0001c0004t0049g0070 a0001c0037t0010g0260	30	271	0.1107	934	c.503 others(949): Show c.503+536_503+537insATGAGAGGTGTTTCCACTGAGCATGGTGGA GGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAGGC GAGAGGTGTTTCTCCTGAGCACGGTGGAGGCTCATAGATGAGAGGTGTTT CCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGCAT GGTGGAGGCTCACAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAGGCTC ATAGGCGAGAGGTGTTTCCCCTGAGCACAGTGGAGGCTCATAGACGAGAG GTGTTTCCCCTGAGCACGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTG AGCACGGTGGAGGCTTACAGATGAGAGGTGTTTCCACTGAGCATGGTGGA GGCTCACAGGCGAGAGGTCTTTCCCCTGAGCATGGTGGAGGCTCACAGGC GAGAGGTGTTTCTCCTGAGCACGGTGGAGGCTCATAGATGAGAGGTGTTT CCCCTGAGCACGGTGGAGGCTCACAGATGAGAGGTGTTTCCACTGAGCAT GGTGGAGGCTCACAGGCGAGAGGTGTTTCCCCTGAGCATGGTGGAGGCTC ATAGGCGAGAGGTGTTTCCCCTGAGCACAGTGGAGGCTCATAGACGAGAG GTGTTTCCCCTGAGCACGGTGGAGGCTCATAGATGAGACATGTTTCCCCT GAGCATGGTGGAGACTCATAGATGAGAGGTGTTTCCCCTGAGCACAGTGG AGACTCATAGATGAGACGTGTTTCCCCTGAGCACGGTGGAGGCTCAAGGA CGAGAGGTGTTTCCGCTGAGCATGGTGGAGGCTCACAGATGAGAGGTGTT TCCCCTGAGCACGGTGGAGGCTCATAGACGAGAGGTGTTTCCCCTGAGCA CGGTGGAGATGCAAGGAAGAGAGATGTTTCCCTGAGCACGGTGGAGGCTC ACAG	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	6/13			chr5	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(928): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACCCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATACA CACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACAC ACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACC CATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCC CCACCACACACCCATACACACACACCCACACACACACCACACCCATACAC ACACACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA19074.hp2 HG00323.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0106 a0001c0002t0002g0196 a0001c0001t0002g0106 a0001c0002t0002g0196	2	248	0.0081	935	c.387 others(954): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTG TGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTATGGGTGAGG GGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGG GTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTG TGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGT GTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTG GGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGG GTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGG TGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTG TGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGG GAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTG GGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGT GTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(928): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACAAACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATACA CACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACAC ACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACC CATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCC CCACCACACACCCATACACACACACCCACACACACACCACACCCATACAC ACACACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG01361.hp2 others(7): Show HG00323.hp2 HG01256.hp1 HG01361.hp2 HG02647.hp2 HG02886.hp2 HG03239.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0017 a0001c0025 a0001c0041 others(4): Show a0001c0017 a0001c0025 a0001c0041 a0001c0052 a0001c0071 a0002c0005 a0004c0030	a0001c0017t0002 a0001c0025t0009 a0001c0041t0009 others(4): Show a0001c0017t0002 a0001c0025t0009 a0001c0041t0009 a0001c0052t0002 a0001c0071t0009 a0002c0005t0002 a0004c0030t0002	a0001c0017t0002g0086 a0001c0025t0009g0121 a0001c0041t0009g0127 others(7): Show a0001c0017t0002g0086 a0001c0025t0009g0121 a0001c0041t0009g0127 a0001c0052t0002g0068 a0001c0071t0009g0010 a0002c0005t0002g0017 a0002c0005t0002g0049 a0002c0005t0002g0146 a0002c0005t0002g0158 a0004c0030t0002g0069	10	248	0.0403	935	c.387 others(954): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTG TGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTATGGGTGAGG GGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGG GTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTG TGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTTTGTATGTATGGGTGT GTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTG GGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGA GTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGG TGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTG TGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGG GAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTG GGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGT GTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(928): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATACA CACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACAC ACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACC CATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCC CCACCACACACCCATACACACACACCCACACACACACCACACCCATACAC ACACACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA19065.hp2 HG01074.hp2 NA19065.hp2	a0001 a0012 a0001 a0012	a0001c0003 a0012c0037 a0001c0003 a0012c0037	a0001c0003t0002 a0012c0037t0002 a0001c0003t0002 a0012c0037t0002	a0001c0003t0002g0095 a0012c0037t0002g0112 a0001c0003t0002g0095 a0012c0037t0002g0112	2	248	0.0081	935	c.387 others(954): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTG TGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTATGGGTGAGG GGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGG GTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTG TGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGT GTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTG GGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGA GTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGG TGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTG TGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGG GAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTG GGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGT GTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(928): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATACA CACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACAC ACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACC CATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCCATCC CCACCACACACCCATACACACACACCCACACACACACCACACCCATACAC ACACACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG01069.hp1 others(18): Show HG00280.hp2 HG00609.hp1 HG01069.hp1 HG01099.hp1 HG01255.hp1 HG01261.hp2 HG01496.hp1 HG01952.hp1 HG02083.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp2 HG03704.hp1 HG03831.hp1 NA18950.hp1 NA18959.hp2 NA18969.hp1 NA18971.hp2 NA18988.hp2 NA19084.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0039 a0002c0004 a0004c0006 a0006c0027 a0006c0038	a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 others(9): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0002 a0001c0002t0014 a0001c0003t0002 a0001c0003t0014 a0001c0039t0002 a0002c0004t0002 a0002c0004t0008 a0004c0006t0002 a0006c0027t0002 a0006c0038t0002	a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0199 others(18): Show a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0008g0248 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0190 a0001c0002t0002g0195 a0001c0002t0014g0184 a0001c0003t0002g0076 a0001c0003t0014g0082 a0001c0039t0002g0113 a0002c0004t0002g0094 a0002c0004t0002g0222 a0002c0004t0008g0241 a0004c0006t0002g0061 a0006c0027t0002g0194 a0006c0038t0002g0145	21	248	0.0847	935	c.387 others(954): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTG TGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTATGGGTGAGG GGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGG GTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTG TGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGT GTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTG GGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGA GTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGG TGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTG TGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGG GAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTG GGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGT GTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	AGACCCAT others(928): Show AGACCCATACACACACACACCAGACCCCCACACCCCCACACCCATACACA CACACCCACCCACCCACACCCACACCCACCACACACACCCACACCCCCAC ACACACCCTCCCACCCCCACACACACACATACCCCCACCACACACCCACA CACCCCCTCACACACCCACACCCACCACACACCCCCACCACACACCCACA TACACCCACACCCCCACCACACACCCATACACACACCCCCACATACTAAT ACACACACACTCCCACACCCTCCCACCCCCCCACACCCCCACCACACACC AATACACACCCACACACCCCCTCACACACACACCCACACACCCATACACA CACCCACCACACACCCATACATACACACCCCCACACCCCCTCACACCCTC CCCCCACTCACCCATACACAACCCCCACCACACCCCCACACCCATACACA CACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACACACCC TCCCCCCACACACCCATACACACACCCCCACCACACCCCCACACCCATAC ACACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACA CACCCTCCCCCCTCACCCATACACAACCCCCACACCCCCACACCCATACA CACACACACCCCCACCACACCCATACACACACCCCTGCACCCCCTCACAC ACCCTCCCCCCCACACACCCATACACACACCCCCACACCCCCACCACACC CATACACACACACCCGTACCCCCTCACACCCTCCCCCCACACACCTATCC CCACCACACACCCATACACACACACCCACACACACACCACACCCATACAC ACACACCCCCACACCCCCACACACACCCTCCCTCACACACACCCCCACCA CACACCCATACACACCCCAACCCCCCCCCACACACC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0002 a0006c0027t0002	a0006c0027t0002g0151 a0006c0027t0002g0151	1	248	0.0040	935	c.387 others(954): Show c.3871-3767_3871-3766insGGTGTGTGGGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGG TGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTG TGTGTGTATGGGTGTGGTGGGGGTGTGGGGGTGTGTGTATGGGTGTGTGG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTTGTGTATGGGTGAGG GGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGGG GTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTG TGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGG TGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTGT GTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTG GGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGA GTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGG TGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTG TGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGTGGGGGTGG GAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGGGTG GGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTGTGT GTATGGGTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(928): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAG TCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCA GTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC CCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACA CATCACCTCAGCCCACCCAACACGTCACCTCAGTCCACCCCCCGCCCCAT CACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTC AGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCA CCCCCCGCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCT CAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	337	0.0030	935	c.61+ others(950): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGC GGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGG TGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCT GAGGTGATGGGGCGGGGGGTGGACTGAGGTGACGTGTTGGGTGGGCTGAG GTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGG GTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGG GTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGAT GTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTG GGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGG GGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGG TGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGG TGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar

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Search Results (Total: 6036 hits)