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
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(716): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT CTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTC ACCCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCAT CCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCC ACCCACCCATCCACCTTCCCCTCCATTTATTCAACCTCCCACCCACCAAC CCATCCACCTTCCCCTCTATCTATTCAACTATTCAACCACCCACCCACCC ACCCACCATCCATCCACCTTCCGCTCCACCTATTCACCCATCCACCCACC CACCCATCTACCTTTCTCTCCACCTATTCACCCATCCACCCACCCACCCA TCTACCTTCCTCTCCATCTATTCAACTATCCACCCACCCACCCACCTATC CACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0219 a0001c0002t0013g0219	1	370	0.0027	723	c.438 others(740): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATA GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGT GGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGG GTGGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGAT GGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATG GAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGA TGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATG GGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAA AGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	308	0.0033	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATG GAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGA TGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATG GGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAA AGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	308	0.0033	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATG GAATGGGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGA TGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATG GGGTAGGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAA AGGGATGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03209.hp2 HG00741.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0240 a0001c0001t0001g0252	2	308	0.0065	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCCTTTCC ATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACCCCATC CACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCTC ATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATTCCATC CCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATG GGATGTGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGG ATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTA GGATGGGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGA TGTGGATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGG GATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02486.hp2 HG02647.hp2 others(4): Show HG02145.hp1 HG02486.hp2 HG02647.hp2 HG02717.hp2 HG03209.hp1 HG03579.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 others(4): Show a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0230 a0002c0002t0001g0231	7	308	0.0227	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCAT CCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACATCCC TTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCCTACC CCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCAC ATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCCCATT CCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGG GATGGGATGTGGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGG ATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	308	0.0033	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATCCCATCCCAT CCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0100 a0002c0006t0001g0100	1	308	0.0033	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	308	0.0033	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGA TGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGG GATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01169.hp2 others(5): Show HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01433.hp1 HG02015.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0001c0001t0001g0216 a0002c0002t0001g0092 a0002c0002t0002g0001 others(4): Show a0001c0001t0001g0216 a0002c0002t0001g0092 a0002c0002t0002g0001 a0002c0002t0002g0074 a0002c0002t0002g0087 a0002c0002t0003g0056 a0002c0002t0003g0057	8	308	0.0260	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCT TTCCATCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCAT CCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCC ATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGA TGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGG GATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18522.hp2 HG02735.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0023 a0001c0001t0001g0036	2	308	0.0065	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCAT CCACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG TGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGGATGGA AAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp1 HG03492.hp2 others(6): Show HG00140.hp1 HG01069.hp1 HG03492.hp2 HG03704.hp1 NA18747.hp2 NA19012.hp2 NA19055.hp2 NA19065.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0017 a0001c0007t0001	a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 others(6): Show a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0007g0267 a0001c0001t0017g0239 a0001c0007t0001g0273	9	308	0.0292	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCA TCCCATCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCC ATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACAT CCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCAC ATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATC CTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCA TCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATC CCATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6070231	G G	GATGGGAT others(716): Show GATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATGTGGAT GGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGGGTGGG ATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATGGGATG TGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATAGA GTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATA GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGT GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGTGGATGGGATGGGATGTGGATAGGGTGGGATGAAATGTGGATGGG ATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGAT GGGATGGGATGTGGATGGGATGGA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0050 a0003c0005t0001g0050	1	308	0.0033	723	c.-8- others(740): Show c.-8-22728_-8-22727insTCCATCCCATCCACATCCCATCCCATCC CATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCAT CCACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCC CATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTTTCCATCCCA TCCACATTTCATCCCACCCTATCCACATCCCATCCCATCCACATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCACAT CCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCATCCC ATCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATC CACATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTA TCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATC CCATCCTACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCA CCCCATCCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCC ACATCCCATTCCATCCCATCCCATCTACATCCCATCCCATCCCAT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(716): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	410	0.0024	723	c.-14 others(734): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0270 a0001c0002t0006g0270	1	316	0.0032	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCAG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(21): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG01123.hp2 HG01361.hp2 HG02145.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 NA18747.hp1 NA18950.hp1 NA18960.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0130 a0001c0001t0002g0007 a0001c0001t0002g0020 others(18): Show a0001c0001t0001g0130 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0246	24	316	0.0760	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGACTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02698.hp1 HG03098.hp1 others(1): Show HG01978.hp1 HG02698.hp1 HG03098.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0003 a0001c0001t0008 a0001c0003t0003	a0001c0001t0008g0265 a0001c0003t0003g0009 a0001c0003t0003g0258 others(1): Show a0001c0001t0008g0265 a0001c0003t0003g0009 a0001c0003t0003g0258 a0001c0003t0003g0260	4	316	0.0127	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01167.hp2 HG01169.hp1 others(20): Show HG00544.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01934.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02965.hp2 HG03209.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18957.hp1 NA18957.hp2 NA18967.hp1 NA18979.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0034 others(20): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0181	23	316	0.0728	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAACAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02818.hp2 others(4): Show HG02280.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp2 HG03139.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0004g0002 a0001c0001t0004g0276 a0001c0001t0004g0277	7	316	0.0222	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAACAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGGC others(716): Show GGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGG GAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCGCTGGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	373	0.0027	723	c.115 others(740): Show c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGG CCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414462	G G	GGAAGGCA others(716): Show GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGG GTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACT GGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGG GGGGGCCGGGAGGGGCAGGGCGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	373	0.0027	723	c.115 others(740): Show c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCC CCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG CGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(716): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACATATATTATAGTTT ATATAATATATACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	302	0.0033	723	c.12+ others(738): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATAAAATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACATATATTATAGTTTATATAATATATACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
TECTA_chr11_121096243_121196490	121185900	C C	CAGATGTT others(716): Show CAGATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAATAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTGAATGAATGAGTAGGGAAAGCAGATGTTCAAT GCTTAATGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0136 a0003c0004t0002g0136	1	348	0.0029	723	c.600 others(742): Show c.6000-1923_6000-1922insGTGCTTAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCT TAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCA ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTGAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(716): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATCATTATATATAATAT ACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATATA ATATACCTATTATATGCATTATATAATATATTATATATAATATGCATATT ATATGTATTATATATTATATATTATATATATAATATACATATTATATGTA TTATATATTATATATTATATATATAATATACATATTATATGTATTATATA TTATATATAATATACATATTATATATTATATATTATATACATATTATATA TTATATATTATATACATATTATATATTATATACATATTATATATTATATA TTATATACATATTATACATTATATATATCTAAAATATATAATACACATTA TATATTATATAATACACATTATATATAATATATAATACACATTATATATT ATATATAATACACATTATATATTATATATAATACACATTATATATTATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATATAATACACATTATATATTATATAATACACATT ATATATTATATATAATACACATTATATATTATATATAATACACATTATAT ATATAATACACATTATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	360	0.0028	723	c.62 others(734): Show c.6215_*6216insTATAATATATAATGTGTATTATATATATAATGTG TATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATA TTATATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(716): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATACATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATACATTATATATATCTAAAATATATAATACAC ATTATATATTATATAATACACATTATATATAATATATAATACACATTATA TATTATATATAATACACATTATATATTATATATAATACACATTATATATT ATATATAATACACATTATATATTATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATATAATACACATTATATATTATATAATACACATT ATATATTATATATAATACACATTATATATATAATACACATTATATATTAT ATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02886.hp2 others(2): Show HG02486.hp1 HG02572.hp2 HG02886.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0152 a0001c0024t0001g0133	5	360	0.0139	723	c.62 others(734): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATTATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATATAATATGTATATTATATATAATATATAA TACATATAATATGTATATTATATATATAATATATAATATATAATACATAT AATATGTATATTATATATATAATATATAATGTATAATACATATAATATGC ATATTATATATAATATATTATATAATGCATATAATAGGTATATTATATAT AATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTAT ATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATA TTATATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THEG_chr19_356747_381026	377209	C C	CTCTGTGC others(716): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0144 a0001c0001t0049g0144	1	370	0.0027	723	c.-12 others(734): Show c.-1240_-1239insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1184		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0189 a0001c0004t0012g0189	1	352	0.0028	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCTGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(21): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG01123.hp1 HG01361.hp2 HG02145.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18747.hp2 NA18950.hp2 NA18960.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0050 a0001c0004t0001g0015 a0001c0004t0001g0044 others(12): Show a0001c0001t0001g0050 a0001c0004t0001g0015 a0001c0004t0001g0044 a0002c0003t0002g0004 a0002c0003t0002g0010 a0002c0003t0002g0019 a0002c0003t0002g0098 a0002c0003t0002g0110 a0002c0003t0002g0115 a0002c0003t0002g0129 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0132 a0002c0003t0002g0183 a0002c0003t0002g0184	24	352	0.0682	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGTCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02698.hp1 HG03098.hp2 others(1): Show HG01978.hp1 HG02698.hp1 HG03098.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0003 a0001c0011t0001 a0001c0001t0003 a0001c0011t0001	a0001c0001t0003g0005 a0001c0011t0001g0021 a0001c0001t0003g0005 a0001c0011t0001g0021	4	352	0.0114	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01934.hp2 others(22): Show HG00544.hp1 HG01167.hp1 HG01934.hp2 HG02056.hp1 HG02109.hp2 HG02615.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2 NA18968.hp2 NA18979.hp2 NA19057.hp1 NA19065.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0008 a0007c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0002c0003t0001 a0003c0008t0004 a0007c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0001g0144 a0001c0001t0004g0122 a0001c0001t0007g0195 a0001c0002t0001g0168 a0002c0003t0001g0116 a0003c0008t0004g0026 a0007c0020t0001g0086	25	352	0.0710	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTGTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02818.hp1 others(4): Show HG02280.hp1 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03471.hp1 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0005 a0004c0009 a0001c0005 a0004c0009	a0001c0005t0006 a0001c0005t0008 a0004c0009t0008 a0001c0005t0006 a0001c0005t0008 a0004c0009t0008	a0001c0005t0006g0040 a0001c0005t0006g0197 a0001c0005t0008g0020 others(2): Show a0001c0005t0006g0040 a0001c0005t0006g0197 a0001c0005t0008g0020 a0004c0009t0008g0042 a0004c0009t0008g0043	7	352	0.0199	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTGTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418917	C C	CCCTCCCT others(716): Show CCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTT CCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCT CCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTC TCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGC CTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCC CTACGTCTCCTTTCCTTCCCTCCCTCCCTACGTCTCCTTTCCTTCCCTCC CTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCAC CCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTC CCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTC TCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCT TCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCC TTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCC CTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCC CTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCT CCCTTTCCTTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02071.hp2 HG02083.hp1	a0005 a0005	a0005c0010 a0005c0028 a0005c0010 a0005c0028	a0005c0010t0002 a0005c0028t0002 a0005c0010t0002 a0005c0028t0002	a0005c0010t0002g0085 a0005c0028t0002g0080 a0005c0010t0002g0085 a0005c0028t0002g0080	2	114	0.0175	723	c.215 others(740): Show c.2154+782_2154+783insCCCTCCCTTTCCTTCCCTCCCTCCCCTT CCCTCCCTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCT CCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCT CCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCT CCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTACG TCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTC CCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCC TCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTC CTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCAT CCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(716): Show ACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACACACGCA CGCCACACACGCACGCCACACGCATGCCACACACAGCCACGCCACACACA CACGCCACACACACACAGGCACGCCACACACGCACGCCACACACACGCAT GCCACACACACGCCACACACACAGGCACGCCACACACACAGGCACGCCAC ACACACACGCCACACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACATGCACGCCACATACGCCCGCCACACACGCACGCCACACACG CACGCCACACAGGCACCCCACACAAGCACGCCACACACACGCACGCCACA CACACACGCACGCCACAAACGCACGCCACACACGCACGCCACACGCACGC CAGCCACACACGCCAGCCACACACGCACGCCAGCCACACGCACGCACACA CGCACGCCACACGCACGCCACACACGAACGCCACAAACGCCACACACGAA TGCCACACGCACGCCACACACGCACGCCACACACGCACGCCACACACGCA CGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATGCCAAA CACGCACGCCACACATGCACGCCACACACACAGGCACACCACACACAGGC ACGCCACACACACAGGCACGCCACACACATGCACGCCACACACACAGGCA CGCCACACACATGCACGCCACACG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0373 a0004c0007t0001g0373	1	430	0.0023	723	c.961 others(738): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGGCATTCGTG TGTGGCGTTTGTGGCGTTCGTGTGTGGCGTGCGTGTGGCGTGCGTGTGTG CGTGCGTGTGGCTGGCGTGCGTGTGTGGCTGGCGTGTGTGGCTGGCGTGC GTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTGGC GTGCGTGTGTGTGGCGTGCTTGTGTGGGGTGCCTGTGTGGCGTGCGTGTG TGGCGTGCGTGTGTGGCGGGCGTATGTGGCGTGCATGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGGCG TGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGT GTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTG TGGCGTGGCTGTGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCGTGCGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(716): Show ACACGCCACACACAGGCACGCCACACACACAGGCACGCCACACACGCACG CCACACACGCATGCCACACACGCACGCCACACGCATGCCACACACAGCCA CGCCACACACACACGCCACACACACACAGGCACGCCACACACGCACGCCA CACACACGCATGCCACACACACGCCACACACACAGGCACGCCACACACAC AGGCACGCCACACACACACGCCACACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACATGCATGCCACATACGCCCGCCACACACGCA CGCCACACAGGCACGCCACACAAGCACGCCACACACACACGCACGCCACA AACGCACGCCACACACGCACGCCACACGCACGCCAGCCACACACGCACGC ACACACGCACGCCAGCCACACACGCACGCCACACGCACGCCACACACGAA CGCCACACAAACGCCACACACACGAATGCCACGCCACACACGCACGCCAC ACACGCACGCCACACACGCACGCCACACACAGGCATGCCACACACATGCA CGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATGCCAAA CACGCACGCCACACATGCACGCCACACACACAGGCACACCACACACAGGC ACGCCACACACACAGGCACGCCACACACATGCACGCCACACACACAGGCA CGCCACACACATGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00639.hp2 others(35): Show HG00423.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02165.hp1 HG02257.hp2 HG02698.hp1 HG03579.hp1 HG03688.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0029 a0002c0004 a0002c0006 a0002c0029	a0002c0004t0001 a0002c0006t0001 a0002c0029t0001 a0002c0004t0001 a0002c0006t0001 a0002c0029t0001	a0002c0004t0001g0003 a0002c0004t0001g0011 a0002c0004t0001g0012 others(28): Show a0002c0004t0001g0003 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0061 a0002c0004t0001g0062 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0004t0001g0071 a0002c0004t0001g0072 a0002c0004t0001g0073 a0002c0006t0001g0022 a0002c0006t0001g0025 a0002c0006t0001g0107 a0002c0006t0001g0142 a0002c0006t0001g0143 a0002c0006t0001g0200 a0002c0006t0001g0252 a0002c0006t0001g0303 a0002c0006t0001g0314 a0002c0029t0001g0174	38	430	0.0884	723	c.961 others(738): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCATG TGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCGTGTGTGGCGTGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTG TGTGGCGTGCGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGCGTGC GTGTGTGGCTGGCGTGCGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGC GTGCGTGTGTGTGTGGCGTGCTTGTGTGGCGTGCCTGTGTGGCGTGCGTG TGTGGCGGGCGTATGTGGCATGCATGTGTGTGGCGTGCGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGGCGTGCCTGTGTGT GTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTG TGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCATGCGTGTGTGGCGTGCG TGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(716): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGA ACAAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGG TGTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACT TCTTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCAC GGTGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01884.hp1 others(2): Show HG01099.hp2 HG01109.hp1 HG01884.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0003 a0002c0004t0001 a0002c0004t0003	a0002c0004t0001g0029 a0002c0004t0001g0061 a0002c0004t0003g0031 others(1): Show a0002c0004t0001g0029 a0002c0004t0001g0061 a0002c0004t0003g0031 a0002c0004t0003g0062	5	274	0.0183	723	c.51 others(734): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(716): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAACAAAGAAAGAAAAAACAAATGA ACAAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGG TGTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACT TCTTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCAC GGTGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG00280.hp2 HG00741.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0017 a0002c0004t0001g0028 a0002c0004t0001g0017 a0002c0004t0001g0028	2	274	0.0073	723	c.51 others(734): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTCTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(716): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACGACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAGAAGAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTGTTTTTGAGATG GTGTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTC CGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACT TCTTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCAC GGTGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	274	0.0037	723	c.51 others(734): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGT TTTTTTTTCTTCTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACT GCAAGCTCCGCCTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGGTTTCACCGTCGTTAGCCAGGATGATCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VIPR2_chr7_159023175_159149867	159088831	G G	GGGAATGG others(716): Show GGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAAT AGCCTCAGGCCTCGGCTCCTCAATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAA TGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCT CAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCT CCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGG AATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGC CTCAGGCCTCGGCTCCTCATCTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0221 a0001c0001t0010g0221	1	336	0.0030	723	c.357 others(742): Show c.357+14925_357+14926insACAGATGAGGAGCCGAGGCCTGAGGC TATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC ACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAG CCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAG GCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATT CCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGG AGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTG AGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCA TTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGA GGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCC TGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCC CATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGAT GAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGG CCTGAGGCTATTCCCATTCCACAGATTGAGGAGCCGAGGCCTGAGGCTAT TCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(716): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATAATATAATATATAATATATAATATATATTATATATTATATATAA TATATATTATATATTATATATAATAATATAATATATAATATACATTATAT AATAATATAATATATAATATACATTATATAATAATATAATGTATATTATA TAATAATAATGTAATATATAACATATATTATATAATAATAATATAATATA TATTATATAATTAATATAATATATAATATATTTTATATAATAATAATATA ATATATATTATATAATTAATATAATATATAATATATATTATATAATAATA ATATAATATATATAATAATTATATAATATAGTATATAATATATATTATAT AATAATAATATAATATATATAATAATTATATAATATTAGAATATATATTA TACAATAATAATATAATATATTATACAATAATAATATAATATATATATAA TTATATAATATAATATATATAATAATAATATAATATAATATATAATATAT ATTATATAGTAATAATATAATATAATATATAATATATATTATATAGTAAT AATATAATATAATATATAATATATATTATATGATAATATAATATAATATA TATTATATATTATATTATAATATAATATAATATATATTATATATTATATT ATAATATAATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	218	0.0046	723	c.55+ others(738): Show c.55+2822_55+2823insATAATATATATTATATTATATTATAATATA ATATATAATATATATTATATTATATTATAATATAATATATAATATATATT ATATTATATTATCATATAATATATATTATATATTATATTATATTATTACT ATATAATATATATTATATATTATATTATATTATTACTATATAATATATAT TATATATTATATTATATTATTATTATATATATTATATTATATAATTATAT ATATATTATATTATTATTGTATAATATATTATATTATTATTGTATAATAT ATATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAA TATATATTATATACTATATTATATAATTATTATATATATTATATTATTAT TATATAATATATATTATATATTATATTAATTATATAATATATATTATATT ATTATTATATAAAATATATTATATATTATATTAATTATATAATATATATT ATATTATTATTATATAATATATGTTATATATTACATTATTATTATATAAT ATACATTATATTATTATATAATGTATATTATATATTATATTATTATATAA TGTATATTATATATTATATTATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATTATATATTATATTATAATTATTATA TATTGCATTATATTATATTATATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(716): Show TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	246	0.0041	723	c.-10 others(740): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(717): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0025 a0002c0029t0025	a0002c0029t0025g0212 a0002c0029t0025g0212	1	228	0.0044	724	c.259 others(745): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCC TCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATC TCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581231	T T	TACGTATA others(717): Show TACGTATACACACATATACGTATACGTATACACACATATACGTATACGTA TACACACATATACGTATACGTATACACACATACGTATACGTATACACACA TATACGTATACGTATACACACATATACACGTATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACGCACATATATACACGTATATACGTATACGTGTACACACA TATATATACACGTATATACGTATACGTGTACACACACGTATATACGTATA CGTGTACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACGTATA TACGTATACGTGTACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACACGTATATACGTATACGTGTACA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACACATA CACGTATATACGTATACGTGTACACACATATACCTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACACATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0123 a0001c0002t0019g0123	1	169	0.0059	724	c.48- others(741): Show c.48-70760_48-70759insACACATATACGTATACGTATACACACAT ATACGTATACGTATACACACATATACGTATACGTATACACACATACGTAT ACGTATACACACATATACGTATACGTATACACACATATACACGTATACGT ATACGTGTACACACATATACACGTATATACGTATACGTGTACACACATAT ACACGTATATACGTATACGTGTACGCACATATATACACGTATATACGTAT ACGTGTACACACATATATATACACGTATATACGTATACGTGTACACACAC GTATATACGTATACGTGTACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACGTATATACGTATACGTGTACACACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT GTACACACACATACACGTATATACGTATACGTGTACACACATATACCTAT ACGTGTACACACATATACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACACATACACGTATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(717): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAAGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGG GAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGG AAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAA GGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGG ACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGG GAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	242	0.0041	724	c.927 others(741): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTTCCC TTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCC TTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTT CCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTT CCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTC CCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCC CTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(717): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	298	0.0034	724	c.955 others(741): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(717): Show TGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCG GAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0114 a0012c0018t0002g0114	1	298	0.0034	724	c.955 others(741): Show c.955-6178_955-6177insGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAG AGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(717): Show AGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0007 a0001c0004t0001g0007	1	391	0.0026	724	c.36 others(735): Show c.3635_*3636insGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(717): Show AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	391	0.0026	724	c.36 others(735): Show c.3635_*3636insGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(717): Show GCCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGC CCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCC CAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAA CCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCG CCCCGCCCCGCCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0053 a0003c0003t0001g0053	1	428	0.0023	724	c.217 others(739): Show c.2176-95_2176-94insCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGC CCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCC CCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCC AAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTG CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(717): Show GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0102 a0001c0058t0001g0102	1	344	0.0029	724	c.85- others(741): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(717): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	448	0.0022	724	c.51+ others(739): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTAGTATACATACTACATGATATACATA GTAGTATACATACTACATGATATACATAGTATGTAGTATACATACTACAT GATATACATAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DCLK2_chr4_150073445_150262438	150251087	A A	AACACCCC others(717): Show AACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAAC ACCCCCACACCCCCACACCCCACACACCCCCCACACCACACATCCCCCAC ACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCC CAAATCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACAC CCCCACACCCCCACACCCCACACACCCCCCACACCACACATCCCCCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA ACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCACACCCCCACACACCCCCCACACCACACACCCCCCACACC CCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACACCCCCC ACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAC CCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCC ACACCACACATCCCCCACACCCCCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	116	0.0086	724	c.207 others(743): Show c.2073+1415_2073+1416insCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCA CACCCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCAAATCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACAC CACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACA CCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACACCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCC ACACCACACACCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar

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Search Results (Total: 8931 hits)