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
PLEKHG4B_chr5_87168_194966	141104	C C	CCCCCTGC others(721): Show CCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACA ACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCC CCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCAC ACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACA ACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCC CCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCCCCTGCAT ACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCACACCCCCC CTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACCCCCTCCC CTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCCCTCCCCA CACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTGCACACCC CACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCCCATCTCC TCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCC CATCTCCTCCCCTGCACACCCCACAACCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0046 a0001c0001t0028g0046	1	210	0.0048	728	c.147 others(745): Show c.1477+402_1477+403insACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACA CCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACA ACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCC CCTGCACACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACA CCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACA ACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAACCTCCC CCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCCCTGCAC ACCCCCCCTCTCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACC CCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACGCACACCCCACCCC CTCCCCACACACTCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTG CACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGCACACCCC CATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCCCACCCCC TCCCCGCACACCCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCGC ACACCCCCATCTCCTCCCCTGCACACCCCACAACCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLG_chr15_89311320_89339824	89325073	T T	TGAGAGAG others(721): Show TGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGAGTGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0196 a0002c0002t0001g0196	1	398	0.0025	728	c.194 others(745): Show c.1949+376_1949+377insTCTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTC ACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCACTCACTCAC TCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACACTCACTCAC TCACTCACTCACTCTCTCACTCTCACTCACTCACTCACTCACTCTCTCAC TCACTCTCTCACTCACTCACTCACTCACTCACTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRKCZ_chr1_2045411_2190395	2123997	G G	GGTAGTTA others(721): Show GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGT CATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTA GTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGG GTCATGGTGGTGGTTAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGT TCATGGTGGTAGTTAGGGTCACGGCTGTA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0250 a0001c0003t0001g0250	1	286	0.0035	728	c.335 others(747): Show c.335-11263_335-11262insAGTTAGGATCATGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAG TTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTAGGGTCATGGTGGTGGTTAGGGTCGTGGTGGT AGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAG GGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTA GT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(721): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGG GATGGGATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGA TGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTG GATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGG ATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG03471.hp1 others(1): Show HG02615.hp1 HG02965.hp1 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 others(1): Show a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0015g0287	4	308	0.0130	728	c.-8- others(745): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(721): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0191	1	308	0.0033	728	c.-8- others(745): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(721): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0012 a0001c0004t0001g0012	1	308	0.0033	728	c.-8- others(745): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCC ATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(721): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGG ATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04199.hp2 HG03669.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0271 a0001c0001t0001g0272	2	308	0.0065	728	c.-8- others(745): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCC ATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATC CACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTA TCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATC CCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCA CCCCATCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCC ACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(721): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0233	1	308	0.0033	728	c.-8- others(745): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCC ATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCC CATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATC CACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTA TCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATC CCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCA CCCCATCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCC ACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(721): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGG ATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTG GATGGGATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02155.hp1 NA18612.hp1 others(6): Show HG02027.hp1 HG02155.hp1 NA18612.hp1 NA18953.hp1 NA18973.hp2 NA18983.hp2 NA19000.hp1 NA19077.hp1 NA19085.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0009c0010 a0003c0005 a0009c0010	a0003c0005t0001 a0003c0005t0003 a0009c0010t0001 a0003c0005t0001 a0003c0005t0003 a0009c0010t0001	a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0048 others(6): Show a0003c0005t0001g0045 a0003c0005t0001g0046 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0051 a0003c0005t0001g0052 a0003c0005t0001g0197 a0003c0005t0003g0020 a0009c0010t0001g0047	9	308	0.0292	728	c.-8- others(745): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCC ATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCC CATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CTATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCA CTCTATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCC ACATCCCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCA TCCCACCCCATCCACATCTCATTCCACCCCATCCACATCCCATCACATCC CATCCACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SLC12A7_chr5_1045384_1117063	1098431	G G	GACCCCTC others(721): Show GACCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGC CCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACCCTCTGC TCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGGCCCCCTCTAA CCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCC TCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCC CCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATGCCC AGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCCCTCTAACCCTCTGCAC ACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCT GCACGCCCAGGCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCT AACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCACGTCCAGCCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGC CCCCCTCTAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCC CAGCCCCCCTCTAACCCTCTGCTCACCCA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	118	0.0085	728	c.125 others(745): Show c.125-4184_125-4183insTGGGTGAGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGG GGCTGGGCGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGA GGGGGGCTGGACGTGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTGGGCGTG CAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGGGGC TGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGG GGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAG AGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCA GAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAAGGGGGCTTGGTG AGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGAGGGTTAGAGGGGGCCTG GGCATGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC17A5_chr6_73588379_73658992	73601481	T T	TGGCCAGC others(721): Show TGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCC CGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCACCCCGTCCGGGA GGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCTGCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCACCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGCTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCACCCCGCCTGGCCAGCCACCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	324	0.0031	728	c.126 others(747): Show c.1260-1041_1260-1040insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCAGGCGGGGTGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGCAGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGTGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAGCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CC	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	9/10			chr6	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(721): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0333 a0002c0003t0002g0333	1	420	0.0024	728	c.107 others(745): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(721): Show CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCACCCATCCACCCATCCACC CATCCACCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCAGTGTTGGTCCATCTACCATCCA TCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0011	a0002c0005t0011g0358 a0002c0005t0011g0358	1	420	0.0024	728	c.107 others(745): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAAT GGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGGTAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGGATGGGTGGAT GGGTGGATGGGTGGATGGGTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMOC2_chr6_168436184_168672992	168561773	T T	TGGAGGAG others(721): Show TGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGTGTT CTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTGCA TTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCACTG TGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCAC TGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTC ACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTC TCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGC TCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAG GCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACG AGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACA CGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGA CACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGA GACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCT GAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTCCTGCC CTGAGACACGAGGCTCTCACTGTGTTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	180	0.0056	728	c.637 others(747): Show c.637+12588_637+12589insCTGCCCTGAGACACGAGGCTCTCACT GTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCTCA CTGCATTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCTCT CACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGGCT CTCACTGCGTTCTTGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGAGG CTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACACGA GGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGACAC GAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAGAC ACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTGAG ACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCCTG AGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGCCC TGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCTGC CCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTTTCCT GCCCTGAGACACGAGGCTCTCACTGCATTCTTGGAGGAGGTGTCATTTTC CTGCCCTGAGACACGAGGCTCTCACTGTGTTCTCGGAGGAGGTGTCATTT TC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(721): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATA AAATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	302	0.0033	728	c.12+ others(743): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAATATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SRXN1_chr20_641615_658200	641939	G G	GGGGGGGG others(721): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGCGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03579.hp1 HG02970.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0001t0003 a0001c0002t0009	a0001c0001t0003g0015 a0001c0002t0009g0026 a0001c0001t0003g0015 a0001c0002t0009g0026	2	422	0.0047	728	c.67 others(739): Show c.6774_*6775insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTG GGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCGCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCC CCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCC CCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCACCAGGCAACTCCACCCCCGCTGGGCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4675		chr20	TogoVar
TECTA_chr11_121096243_121196490	121185830	C C	CAGATGTT others(721): Show CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCT TAATGAATGAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAA AGCAGATGTTCAGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TGAATGCTTAATGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0190 a0003c0007t0001g0190	1	348	0.0029	728	c.600 others(747): Show c.6000-1995_6000-1994insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGGGAAAGCAGATGTTCAATGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGT AGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGT TGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCA GATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTA ATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAAT GCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGT AGGGAAAGCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAG TGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAG TAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGAAGATG TT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
THEG_chr19_356747_381026	376879	C C	CCCCCACC others(721): Show CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCGTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCT CCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTGTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0024 a0003c0004t0024	a0003c0004t0024g0251 a0003c0004t0024g0251	1	370	0.0027	728	c.-91 others(737): Show c.-910_-909insCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACAGG GGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGAGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGA GGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		854		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747289	G G	GCTGGGGT others(721): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAA AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0130 a0004c0005t0004g0130	1	314	0.0032	728	c.189 others(745): Show c.189-1024_189-1023insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(721): Show TTATATATATATTATATATAAAAATTATATATATTATATATATAAAAATT ATATATATATTATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATTATATATATAAA AATTATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATATAAATTATATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATATATATATTATATATATATAAAAATT ATATATATATATTATATATATATAAAAATTATATATATATATTATATATA TATAAAAATTATATATATATATTATATATATAAAAATTATATATACATAT TATATATATATAAAAATTATATATACATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0019 a0001c0013t0001g0019	1	272	0.0037	728	c.29 others(739): Show c.2994_*2995insTATATATATATTATATATAAAAATTATATATATT ATATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATTATATATATAAAAATTATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATATAAATTATA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATATTATATATATATAAAAATTATATATATATATTAT ATATATATAAAAATTATATATATATATTATATATATATAAAAATTATATA TATATATTATATATATATAAAAATTATATATATATATTATATATATAAAA ATTATATATACATATTATATATATATAAAAATTATATATACATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(721): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATATACTATATCATCATATGATATACTATATCATCATATGATATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	174	0.0058	728	c.41- others(745): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATATACTATATCATCATATGATATACTATA TCATCATATGATATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBB2B_chr6_3219277_3232653	3222288	T T	TCACCATC others(721): Show TCACCATCATCACCACCACCACCACCACCACTAGCACAACCACAACACTA CCACATCACCACCACCACTACCACTACTACCATCACCATCACCACCACCA TCACCACCACCACCACAATACTACCACATCACCACCACCACCATCATCAT CACCACCACTACCACCACCACCACCACCACCACCACCACGACCACCACAA CACTACCACATCACCACCACCACGACCACCACTGCCACCACCACTACCAC CATCGCCACCATCACCACCACATCACCACCACCACCACCACTACTACCAC CACCACCACCATCACCACTACTACCATCACCACTACTACCACCACCACCA TCACCACTACTACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCATCACAATCACCACCACCATCACCACCACCACTACCACCACCAC CATCACCATCATCACCACCACCACCAACACTACTGCCACCACCACTATTA CCATCACCACCACTACTACCACCACCACTACCATAACCACCATCATCACC ATCACCATCATTACTGCTATTATGACCACCATCACTACCACCATTATCAC CACCACCACTAAACTACCACCACTACCTCACTGCCATCATCACCATCACC ATTACTAACATCACCATTACTAACATCACCATTATAATACTACCACCATC ACTACCACCACCACCACCACCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	360	0.0028	728	c.24 others(739): Show c.2462_*2463insGTGATGGTGGTGGTGGTGGTGGTGGTAGTGATGG TGGTAGTATTATAATGGTGATGTTAGTAATGGTGATGTTAGTAATGGTGA TGGTGATGATGGCAGTGAGGTAGTGGTGGTAGTTTAGTGGTGGTGGTGAT AATGGTGGTAGTGATGGTGGTCATAATAGCAGTAATGATGGTGATGGTGA TGATGGTGGTTATGGTAGTGGTGGTGGTAGTAGTGGTGGTGATGGTAATA GTGGTGGTGGCAGTAGTGTTGGTGGTGGTGGTGATGATGGTGATGGTGGT GGTGGTAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGATGGTG GTGGTGGTAGTAGTGGTGATGGTAGTAGTGGTGATGGTGGTGGTGGTGGT AGTAGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGCGATGGTGGT AGTGGTGGTGGCAGTGGTGGTCGTGGTGGTGGTGATGTGGTAGTGTTGTG GTGGTCGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGATGAT GATGGTGGTGGTGGTGATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTG GTGGTGATGGTGATGGTAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTG TTGTGGTTGTGCTAGTGGTGGTGGTGGTGGTGGTGATGATGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		1988		chr6	TogoVar
UBE2J2_chr1_1248912_1278854	1249475	C C	CACGGGCA others(721): Show CACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCC GCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGG CTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAG GCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACA CGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGC CCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCT GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACG GGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCC TACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGG GCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTG GACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGG CAGCCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCT ACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGG CCTCCCACTCCGCCCTACAGGCCGGGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	324	0.0031	728	c.57 others(739): Show c.5727_*5728insTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAG CCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGC GGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGGCTGCCCGT GTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCC TCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGC CTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCG GAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGT CCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTC CCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCT CCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGA GTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCC CGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCC AGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCC CTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGT GGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGT	UBE2J2	ENSG00000160087.21	transcript	ENST00000349431.11	protein_coding		4436		chr1	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(721): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0193 a0001c0001t0003g0193	1	408	0.0025	728	c.53+ others(743): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(721): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATCGATAGATAGATGTATCTAT CGATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	408	0.0025	728	c.53+ others(743): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATC GATAGATAGATGTATCTATCGATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(721): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGA GGGGAGGGAAGGGGAGGGAGGGGTGGGAGGGAGGGAAGTGAGGGGAGGGA GGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAG GGAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGG GGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGG AGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGA AAGAGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATG AAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02647.hp1 others(1): Show HG01891.hp1 HG02451.hp1 HG02647.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0014 a0001c0001t0003g0198 a0001c0002t0001g0009 others(1): Show a0001c0001t0001g0014 a0001c0001t0003g0198 a0001c0002t0001g0009 a0001c0002t0002g0010	4	290	0.0138	728	c.205 others(747): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTCCCTCCCT CTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCTTCCCTCCCTC CCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCC TCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCC TCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCACTTCCCT CCCTCCCTCCCCTCACTTCCCTCCCTCCCACCCCTCCCTCCCCTTCCCTC CCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCC TCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCC TTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCT CCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTT CC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ADPRHL1_chr13_113394611_113458488	113419014	T T	CCCTTCCT others(722): Show CCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTC TTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCC TCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC TTCACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCCCTCCCTCTCTC CCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTT CCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	262	0.0038	729	c.106 others(748): Show c.1061+3812_1061+3813insAGGGAGGGAGGAAGGGAGGGAGGGAG GGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAG GGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGACAGGAAGGG AGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGT GAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAA AGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGGGAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAG GGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGA AAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGG AAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAA GGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	344851	G G	GGTGTGTG others(722): Show GGTGTGTGAGACTGCAGGTGTGCAGGTGTGCGAAGCTGTGTGAGACTGCG TGTGCAGGTGTGTGTGGAGGGCTGTGGGGAGCTGTGTGTGGGGGGGGTGT GTGTGTGAGGTTGTGGGGGGCTGTGTGGGGTGTGTGTGAGGCTGTGTGTG GGGAGTGTGAGGCTGTGTGTGTGCGAGGGGGACTATGTGTGTCGGATGAT GTCCCTGGCTGTGTGTGGGGATGTGTGTGTGGGGAGAGGGGTGGGTGTGT GTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGTGTGTGT GTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGC TGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTG TGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGG GGAGCTGTGTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTG TGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTG TGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGG CTGTGTGTGTGCTGGGGGAGCTGTGTGTGTGGGTGTGTGTGACTGCGGGT GTGCGAGGCTGTGTGAGACTGTGTGTGCGGGTGTGTGTGGGGGACTGTAG GGAGCTGTGTGTGGCAGGTGTGTGTGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	268	0.0037	729	c.62+ others(742): Show c.62+900_62+901insCAGGTGTGCAGGTGTGCGAAGCTGTGTGAGAC TGCGTGTGCAGGTGTGTGTGGAGGGCTGTGGGGAGCTGTGTGTGGGGGGG GTGTGTGTGTGAGGTTGTGGGGGGCTGTGTGGGGTGTGTGTGAGGCTGTG TGTGGGGAGTGTGAGGCTGTGTGTGTGCGAGGGGGACTATGTGTGTCGGA TGATGTCCCTGGCTGTGTGTGGGGATGTGTGTGTGGGGAGAGGGGTGGGT GTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGTGT GTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTG AGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAG GCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGC GGGGGGAGCTGTGTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGG GGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG GGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGT GAGGCTGTGTGTGTGCTGGGGGAGCTGTGTGTGTGGGTGTGTGTGACTGC GGGTGTGCGAGGCTGTGTGAGACTGTGTGTGCGGGTGTGTGTGGGGGACT GTAGGGAGCTGTGTGTGGCAGGTGTGTGTGGGGTGTGTGTGAGACTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(722): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGTG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCC CGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0151 a0001c0002t0013g0151	1	292	0.0034	729	c.207 others(750): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGTGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(722): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGTGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCGGG GGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCC CAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCC CGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0135 a0001c0001t0003g0135	1	292	0.0034	729	c.207 others(750): Show c.2079+60658_2079+60659insAGGGGGGGTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGTGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGG GCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC CGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
C2CD4C_chr19_400445_414147	404936	A A	AACGGGGT others(722): Show AACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGG TCCTGCCCTGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGT GGGGGGGGACGGGGTCCTGCCCTAGGGGTGTGGGGGGGACGGGGTCCTGC CCTGAGGGGTGTGGGGGGGACGGGGGTCCTGCCCTGAGGGGTGTGGGGGG GACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGAACGGGGTCCTGCCCTG AGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGAA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAG GGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGAC GGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGG GGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGACGGGG TCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTG GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0165 a0001c0001t0117g0165	1	322	0.0031	729	c.21 others(740): Show c.2159_*2160insCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCC CCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCA GGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACA CCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCC GTCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTC AGGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCC CCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCA GGGCAGGACCCCGTCCCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCC CCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGG GCAGGACCCCGTTCCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCC CCACACCCCTCAGGGCAGGACCCCCGTCCCCCCCACACCCCTCAGGGCAG GACCCCGTCCCCCCCACACCCCTAGGGCAGGACCCCGTCCCCCCCCACAC CCCTCAGGGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCC GTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCCCCACACCCCTCA GGGCAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGT	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		508		chr19	TogoVar
C2CD4C_chr19_400445_414147	410805	G G	GGGGGTCT others(722): Show GGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCA CCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGG GCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACC GCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCCCCTGCTGGG CACGGATCCTGGGGGTCTGTCCACCGTCCCCTGCTGGGCCCGGATCCTGG GGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACC GCCCCTGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGGTCTGTCCACCG CCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCA CGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGAGCCGGGAGGA GGGTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGT CTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGG ATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGTCTCTGCTGGGCACGGATCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA20300.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0040 a0001c0001t0033g0040	2	322	0.0062	729	c.-18 others(740): Show c.-1841_-1840insAAGGATCCGTGCCCAGCAGAGACGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCC CCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGACCCTCCT CCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCC CAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGT GGACAGACCCCCAGGACCCTCCTCCCGGCTCGGGCCCAGCAGGGGCGGTG GACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGGGGACGGTGGACAGACCCCCAGGATCCGTGCCCA GCAGGGGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTG GACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAG GATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGA CAGATCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1659		chr19	TogoVar
CCDC77_chr12_396644_447642	419781	T T	TTCCATTA others(722): Show TTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATAAA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTC CATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGCTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATA GCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAG CACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGA GGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCT CCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGG GTAAAATACACATAGCAGCACCCTCCATGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	432	0.0023	729	c.413 others(746): Show c.413+1158_413+1159insTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGATAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCT CCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAA AATACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACACTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGCTGG GAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGC AGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTG C	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(722): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGG GGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAG GGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCA GTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	168	0.0060	729	c.-26 others(738): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCC CCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTC CTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCC CCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCC TCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCA GCTCCCCCTCCTCCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNTN6_chr3_1088024_1409217	1245281	A A	ATATATAT others(722): Show ATATATATAATATATATATAACATATATAATATATATATAACATATATAT ATAATATATATAACATATATATATAATATATATATAACATATATATATTA TATATATATAACATATATATATAATATATATATAACATATATAATATATA TATAACATATATATAATATATATATAACATATATATAATATATATATAAC ATATATAATATATATATAACATATATATAATATATATATAACATATATAT ATTATATATATAACATATATATATTATATATATAACATATATATATTATA TATAACATATATATATAATATATATATAACATATATATATTATATATATA ACATATATATTATATATATAACATATATATTATATATATAACATATATAT TATATATATAACATATATATTATATATATAACATATATATATAATATATA TATAACATATATATATAATATATATATAACATATATATATAATATATATA ACATATATATATATAATATATATATAACATATATATATAATATATATATA ACATATATATATAATATATATATAACATATATATATAATATATATATAAC ATATATATATAATATATATATAACATATATATATAATATATATATAACAT ATATATATAATATATATATAACATATATATATAATATATATATAACATAT ATATATAATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	232	0.0043	729	c.358 others(748): Show c.358+17288_358+17289insTATATATAATATATATATAACATATA TAATATATATATAACATATATATATAATATATATAACATATATATATAAT ATATATATAACATATATATATTATATATATATAACATATATATATAATAT ATATATAACATATATAATATATATATAACATATATATAATATATATATAA CATATATATAATATATATATAACATATATAATATATATATAACATATATA TAATATATATATAACATATATATATTATATATATAACATATATATATTAT ATATATAACATATATATATTATATATAACATATATATATAATATATATAT AACATATATATATTATATATATAACATATATATTATATATATAACATATA TATTATATATATAACATATATATTATATATATAACATATATATTATATAT ATAACATATATATATAATATATATATAACATATATATATAATATATATAT AACATATATATATAATATATATAACATATATATATATAATATATATATAA CATATATATATAATATATATATAACATATATATATAATATATATATAACA TATATATATAATATATATATAACATATATATATAATATATATATAACATA TATATATAATATATATATAACATATATATATAATATATATATAACATATA TATATAATATATATATAACATATATATATAATATATATATAACATATATA TAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(722): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATAGTG GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGGGGAG AGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAGTCTCA CTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAAG CTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAGTAGTT GGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAGTAGAG ACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCACTCGTG ATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCAC CATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTCTCCAG GTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTGGCTCA CGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0303 a0001c0002t0008g0303	1	324	0.0031	729	c.827 others(744): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGAT CACGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGT CTCTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCC AACTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAG CTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAG TGAGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCT CTCCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGC CACTATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CRLF3_chr17_30777684_30829692	30792923	G G	GAGGCGGG others(722): Show GAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAATCTAATTAATAAATGAGTCTACATCTTCTAAAAAAGAATGCAGGGG AGAGATCAATTTCAAATCATAAGACTTTTTTTTTTTTTGAGACAGAGTCT CACTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCA AGCTCCGCCTCCCAAGTTCAGCCATTCTCCTGCTTGAGCCTCCCAAGTAG TTGGGCCTACAGGTGCCCCATGCCTGGCTAATTTTTGGTATTTGTAGTAG AGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGCACTCG TGATCCGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCC ACCATGCCCGGCCCTCAAATCATCAGACTTTTAAGAAAATGTCTCTCCAG GTATTTCTTGAGAGTTTGGAAAATCAGCATCAGCTGGGCACAGTGGCTCA CGCCTATAATCCCAGGACTTTGGGAGGTCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG03041.hp1 HG02647.hp2 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0081 a0001c0002t0009g0313 a0001c0002t0009g0314 a0001c0002t0009g0081 a0001c0002t0009g0313 a0001c0002t0009g0314	3	324	0.0093	729	c.827 others(744): Show c.827-352_827-351insTGACCTCCCAAAGTCCTGGGATTATAGGCG TGAGCCACTGTGCCCAGCTGATGCTGATTTTCCAAACTCTCAAGAAATAC CTGGAGAGACATTTTCTTAAAAGTCTGATGATTTGAGGGCCGGGCATGGT GGCTCACACCTGTAATCCCAGCACTTTGGGAGACCAAGGCAGGCGGATCA CGAGTGCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCTGTCT CTACTACAAATACCAAAAATTAGCCAGGCATGGGGCACCTGTAGGCCCAA CTACTTGGGAGGCTCAAGCAGGAGAATGGCTGAACTTGGGAGGCGGAGCT TGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGTG AGACTCTGTCTCAAAAAAAAAAAAAGTCTTATGATTTGAAATTGATCTCT CCCCTGCATTCTTTTTTAGAAGATGTAGACTCATTTATTAATTAGATTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT	CRLF3	ENSG00000176390.12	transcript	ENST00000324238.7	protein_coding	5/7			chr17	TogoVar
CSF2RA_chrX_1263814_1314935	1297569	G G	GACCCCTA others(722): Show GACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGTCCCC TACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGAGGAACCCTAC AGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTA ACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC TGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCA TGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTC CTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTA CAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACG ACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCT ACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACA GTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAA CCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCT GGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAAT CCCCTACTCACAACCCCCGGTGGAACCCTACAGTCTCCTACCCATGACCC CTGGTGGAACCCTACAGTCCCCTACTCACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0106 a0001c0007t0001g0106	1	159	0.0063	729	c.810 others(746): Show c.810+2122_810+2123insCTCTCCTACCCATGACCCGTGGCGGAAC TGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTG GAGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATG ACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCT ACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACC CTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGG CGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGA CCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTA CTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTG TGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCTCC TACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCACAACCCCTAC A	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(722): Show TCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCGTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTA CAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGG AACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCC CTGGCGGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCC ATGACCCCTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACACTCT CCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCT ACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCAC AACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCGTACAGTCCCC TACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTAC AGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTA ACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTA CTCACAACCCCCGGTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01070.hp2 others(17): Show HG00408.hp2 HG00639.hp2 HG01070.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01496.hp1 HG01993.hp1 HG02056.hp2 HG02155.hp2 HG02886.hp1 HG03490.hp2 HG03491.hp1 HG03710.hp1 NA18973.hp1 NA18975.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0018t0003 a0002c0003t0002	a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 others(17): Show a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0069 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0118 a0001c0002t0001g0103 a0001c0002t0002g0018 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0003g0111 a0001c0002t0003g0119 a0001c0002t0004g0038 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0006g0039 a0001c0018t0003g0107 a0002c0003t0002g0029	20	159	0.1258	729	c.811 others(746): Show c.811-1792_811-1791insCCTGGCGGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCGT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCG GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACC CCTGGCGGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACC CATGACCCCTGGCGGAACCGTACAGTCCCCTACTCACGACCCCTACAGTC TCCTACCCATGACCCCTGGCGGAACTGTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCC CTACTCACAACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCGTA CAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAG AACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCC CTGGAGTAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACA ATCCCCTACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGAC C	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(722): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA TGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGA GGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAG TCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACG ATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAG GACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTA GTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACA TGGGAACCCACGATCACCCATCACGTGGTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	416	0.0024	729	c.86- others(742): Show c.86-626_86-625insAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTC CCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTC CACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTG GTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGT GATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCATA GGACTCACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTC TCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
DLGAP2_chr8_732628_1713476	759057	A A	ACCTTCCC others(722): Show ACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCT GACAGCTTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATAC CCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCA ATACCCCCCACAACCTTCCCATTATCAATACCCCCAACAGCCTTCCCATT ATCAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCC CATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCC TTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATAACCCCCAC AACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCC TGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATA CCCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATC AATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCAT TATCAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTC CCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGC CTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCAA CAGCCTTCCCATTATCAATACCCCTGACAG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	729	c.18+ others(746): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCTTTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACC CCCGACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAA TACCCCCCACAACCTTCCCATTATCAATACCCCCAACAGCCTTCCCATTA TCAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCC ATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCCT TCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATAACCCCCACA ACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCT GACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATAC CCCCAACAGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCA ATACCCCCCACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATT ATCAATACCCCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCC CATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCC TTCCCATTATCAATAACCCCCACAACCTTCCCATTATCAATACCCCCAAC AGCCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATCAATACCCC C	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(722): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCAT CACCACCACCTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCA CCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTC ACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCGTCACCACCTTCTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01243.hp1 HG01496.hp2 others(15): Show HG00609.hp1 HG01243.hp1 HG01496.hp2 HG01943.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp1 HG02148.hp2 HG02572.hp1 HG02615.hp2 HG02809.hp1 NA18522.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18961.hp2 NA19060.hp1 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0010 a0011 a0014 a0028 a0029 a0037	a0001c0002 a0001c0003 a0001c0032 others(11): Show a0001c0002 a0001c0003 a0001c0032 a0002c0005 a0002c0008 a0002c0021 a0002c0112 a0003c0001 a0010c0091 a0011c0156 a0014c0065 a0028c0116 a0029c0082 a0037c0029	a0001c0002t0001 a0001c0003t0001 a0001c0032t0006 others(11): Show a0001c0002t0001 a0001c0003t0001 a0001c0032t0006 a0002c0005t0001 a0002c0008t0001 a0002c0021t0005 a0002c0112t0001 a0003c0001t0001 a0010c0091t0001 a0011c0156t0001 a0014c0065t0001 a0028c0116t0002 a0029c0082t0001 a0037c0029t0001	a0001c0002t0001g0090 a0001c0002t0001g0253 a0001c0003t0001g0044 others(15): Show a0001c0002t0001g0090 a0001c0002t0001g0253 a0001c0003t0001g0044 a0001c0032t0006g0127 a0002c0005t0001g0191 a0002c0008t0001g0112 a0002c0008t0001g0113 a0002c0008t0001g0114 a0002c0021t0005g0250 a0002c0112t0001g0224 a0003c0001t0001g0135 a0003c0001t0001g0158 a0010c0091t0001g0076 a0011c0156t0001g0052 a0014c0065t0001g0165 a0028c0116t0002g0233 a0029c0082t0001g0228 a0037c0029t0001g0047	18	256	0.0703	729	c.323 others(748): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACC ACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACCATCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCA CCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400827	T T	TCACCACC others(722): Show TCACCACCTCCTTCACCATCACCACCACCACCACCTCCACTATCACCACC ACCTCCACCATCACCACCTCCTCCATCACCACCACCATCTTCACCATCAC CACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCC CCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCAT CACCACCACCTGCACCATCACCTCCACCACCACCACCTCCTCCACCATCA CCACCAGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCAC CTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCA CCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACC ACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCAC CATCACCACCACCTCCACCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCACCACCACCACTTCCACCATCACCACCTCCTTC ACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CACCTCCACCACCACCGTCACCACCTTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01109.hp2 HG02109.hp1 others(4): Show HG01069.hp1 HG01109.hp2 HG02109.hp1 HG02896.hp1 HG03471.hp2 HG06807.hp1 HG06807.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0009 a0033 a0038	a0001c0049 a0003c0134 a0003c0135 others(4): Show a0001c0049 a0003c0134 a0003c0135 a0005c0145 a0009c0060 a0033c0088 a0038c0068	a0001c0049t0013 a0003c0134t0001 a0003c0135t0001 others(4): Show a0001c0049t0013 a0003c0134t0001 a0003c0135t0001 a0005c0145t0001 a0009c0060t0003 a0033c0088t0003 a0038c0068t0003	a0001c0049t0013g0219 a0003c0134t0001g0217 a0003c0135t0001g0173 others(4): Show a0001c0049t0013g0219 a0003c0134t0001g0217 a0003c0135t0001g0173 a0005c0145t0001g0172 a0009c0060t0003g0241 a0033c0088t0003g0003 a0038c0068t0003g0077	7	256	0.0273	729	c.323 others(748): Show c.3234+1573_3234+1574insCCTCCTTCACCATCACCACCACCACC ACCTCCACTATCACCACCACCTCCACCATCACCACCTCCTCCATCACCAC CACCATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCA CCACCACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCC ACCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCAC AACATCCACCACCACCATCACCACCACCTGCACCATCACCTCCACCACCA CCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACC ACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCTC CTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACCA TCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCACCACCACCACTTCCACCATCAC CACCTCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCTCCA CCACCACCACCACCTCCACCATCACCACCACCACCACCACCACCACTTCC ACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCACCAC CACCTCCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCA CCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(722): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACC ACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTC CACCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCA CCTCCATCACCACCACCTCCACCACCACCACCACCTCCATCACCACCACC ACCACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCAC CACCACCACCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCT CCACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGC AATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0001 a0014c0065t0001	a0014c0065t0001g0165 a0014c0065t0001g0165	1	256	0.0039	729	c.323 others(748): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACCACCT CCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCACCACC ATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCACCAC CACCACCTCCATCACCACCACCACCACCACCACCACCACTTCCACCATCA CCACCTCCTTCACCATCACCACCACCACCACCACCACCACCACCACCTCC ACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCAC CATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCA ATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(722): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGG TGGTGGTGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	288	0.0035	729	c.190 others(748): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(722): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG01261.hp1 others(6): Show HG00558.hp2 HG01243.hp2 HG01261.hp1 HG03017.hp1 HG03017.hp2 NA18995.hp2 NA19064.hp2 NA19079.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0013	a0001c0002 a0001c0066 a0002c0001 others(4): Show a0001c0002 a0001c0066 a0002c0001 a0002c0041 a0002c0073 a0004c0005 a0013c0019	a0001c0002t0001 a0001c0066t0001 a0002c0001t0001 others(4): Show a0001c0002t0001 a0001c0066t0001 a0002c0001t0001 a0002c0041t0001 a0002c0073t0010 a0004c0005t0001 a0013c0019t0001	a0001c0002t0001g0118 a0001c0066t0001g0073 a0002c0001t0001g0111 others(6): Show a0001c0002t0001g0118 a0001c0066t0001g0073 a0002c0001t0001g0111 a0002c0001t0001g0117 a0002c0041t0001g0120 a0002c0073t0010g0207 a0004c0005t0001g0137 a0004c0005t0001g0147 a0013c0019t0001g0186	9	208	0.0433	729	c.282 others(748): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACA AAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(722): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0107 a0001c0002t0001g0107	1	208	0.0048	729	c.282 others(748): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTT GTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGA CTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACA AAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(722): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0178 a0001c0006t0001g0178	1	208	0.0048	729	c.282 others(748): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAG TCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTAT ACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTT GTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAAAGT CTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACA AAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FARP2_chr2_241351285_241499841	241457465	G G	GGGACTGC others(722): Show GGGACTGCTTTGGGTTCCGGAGAGGCTCTTGGGCAGGAGGCCCAGTGTAG AAAGATCTGGGTGCTAAGGGAGGGTACACTAGGGACCGCTTTGGGTTCCG GAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGG GAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGGCGGGA GACCCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTACACTAGGGACCG CTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATC TGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGC TCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTA CACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAG TGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGG TTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGC TAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGG CGGGAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTGCACTAGG GACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAA AGATCTGGGTGCTAAGGGAGGGTGCACTAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0345 a0002c0002t0001g0345	1	378	0.0027	729	c.158 others(746): Show c.1587+547_1587+548insTGCTTTGGGTTCCGGAGAGGCTCTTGGG CAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTACACTAGG GACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAA AGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGA GAGGCTCTTGGGCGGGAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGA GGGTACACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGA CCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCT TTGGGTTCTGGAGAGGCTCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTG GGTGCTAAGGGAGGGTACACTAGGGACCGCTTTGGGTTCCGGAGAGGCTC TTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCA CTAAGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTG TAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTT CTGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAACATCTGGGTGCTA AGGGAGGGTGCACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCG GGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGA C	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
FARP2_chr2_241351285_241499841	241457504	A A	ACCCAGTG others(722): Show ACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTACACTAGGGACCGC TTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCT GGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCT CTTGGGCGGGAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTAC ACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGT GTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGT TCTGGAGAGGCTCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCT AAGGGAGGGTACACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGC GGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGG ACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAA GATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAG AGGCTCTTGGGCGGGAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGAG GGTGCACTAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGAC CCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTT TGGGTTCTGGAGAGGCTCTTGGGCAGGAGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18970.hp2 NA19083.hp1 NA18960.hp1 NA18970.hp2 NA19083.hp1	a0002 a0014 a0002 a0014	a0002c0002 a0014c0018 a0002c0002 a0014c0018	a0002c0002t0001 a0014c0018t0001 a0002c0002t0001 a0014c0018t0001	a0002c0002t0001g0200 a0002c0002t0001g0358 a0014c0018t0001g0339 a0002c0002t0001g0200 a0002c0002t0001g0358 a0014c0018t0001g0339	3	378	0.0079	729	c.158 others(746): Show c.1587+617_1587+618insACACTAGGGACCGCTTTGGGTTCCGGAG AGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAAGGGAG GGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGGCGGGAGAC CCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTACACTAGGGACCGCTT TGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGG GTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCT TGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGGTACAC TAGGGACCGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGT AGAAAGATCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTC CGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGATCTGGGTGCTAA GGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAGGCTCTTGGGCGG GAGACCCAGTGTAGAAACATCTGGGTGCTAAGGGAGGGTGCACTAGGGAC CGCTTTGGGTTCCGGAGAGGCTCTTGGGCGGGAGACCCAGTGTAGAAAGA TCTGGGTGCTAAGGGAGGGTGCACTAAGGACCGCTTTGGGTTCTGGAGAG GCTCTTGGGCAGGAGGCCCAGTGTAGAAAGATCTGGGTGCTAAGGGAGGG T	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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