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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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
NFATC1_chr18_79390930_79534323	79494355	G G	GCCCCCCA others(714): Show GCCCCCCATGAACCTGGTGTGGCCGGGGGAAGGCGAGAACGGGCACACGC CCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGGCACACGCCCCCCATG AACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAA CCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACC TGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTG GTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGT ACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC GGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCC GGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTGCGGCCGG GGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTACGGCCGGGG GAAGGCGAGAGCGGGCACACGC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0004 a0005c0031t0004	a0005c0031t0004g0011 a0005c0031t0004g0011	1	322	0.0031	721	c.278 others(740): Show c.2782+7426_2782+7427insGAACCTGGTGTGGCCGGGGGAAGGCG AGAACGGGCACACGCCCCCCATCAACCTGGTACCGCCGGGGGAAGGCGAG AGCGGGCACACGCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAG CGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCG GGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAGGCGAGAGGGGG CACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCA CACGCCCCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACA CGCCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACG CCCCCCATGAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCC CCCCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCC CCATGAACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCC ATCGACCTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCAT CGACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGA ACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAAC CTGGTACGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCAT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(714): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACTGTGTATATATACACAGTATGTATACTGCATA CAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACAATACAGTATGTATACTGTATATATACACA ATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTA TACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0007 a0002c0006t0007	a0002c0006t0007g0031 a0002c0006t0007g0031	1	362	0.0028	721	c.-75 others(740): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATG CAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACATACAGTATACATACATACAGTATACATACATACAGTATACATG CTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
RASA3_chr13_113972783_114137623	114044335	C C	CCCCGCCC others(714): Show CCCCGCCCCGCCTCACTCGCTGAGCTCCCCCGCCCCGCCTCACTCGCTGA GCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCG CTGAGCTCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCGCCGCCTCA CTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCAC TCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCTCCCCCCCGCGTCACTCGCTGAGCCCCCCGCCCCGCCTCA CTCGCTGAGCTCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTC ACTCGCTGAGCTCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCC GCCTCACTCGCTGAGCCCCCCCCGCCTCACTCGCTGAGCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGC CCCGCCTCACTCGCTGAGCTCCCCCCCCCCGCCTCACTCGCTGAGCTCCC CCCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCC CCCCCCGCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCCTC ACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCG CCTCACTCGCTGAGCCCCCCCG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0006 a0003c0008t0002g0006	1	67	0.0149	721	c.278 others(738): Show c.278-3242_278-3241insCGGGGGGGCTCAGCGAGTGAGGCGGGGC GGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCG GGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGGGCGGGGGGGGCTCA GCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGGAGC TCAGCGAGTGAGGCGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGC GGGGGGCTCAGCGAGTGAGGCGGGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGAGCTCAGCGAGTGAGGCG GGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGCTCAGCGAGTGACGCGGGGGGGAGCTCAGCGAGTGAGGC GGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGG CGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGGGGGCTCAGCGAGTGAGGC GGCGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGAGCTCAGCGAGTG AGGCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCG AGTGAGGCGGGGCGGGGGAGCTCAGCGAGTGAGGCGGGGCGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RPA3_chr7_7631518_7723607	7678857	T T	TATATTTA others(714): Show TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATAC	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19076.hp2 NA19004.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0277 a0001c0001t0003g0263 a0001c0001t0003g0277	2	308	0.0065	721	c.-75 others(740): Show c.-758+6972_-758+6973insGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTA AATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAA ACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATA AACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SCGB1C1_chr11_188078_199575	196287	G G	GGGGACAT others(714): Show GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGG GGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAC ATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGACCT TGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGG CCTTGGTGAGGGGACCTGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0001 a0001c0004t0002g0001	1	354	0.0028	721	c.18 others(732): Show c.1837_*1838insGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCT GGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACA TGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC TTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGACCTTGGTGAGCGGACCTGGTGAGGGGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGA GGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGA	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1713		chr11	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(714): Show CCCCCTCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCACCCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTC CCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	150	0.0067	721	c.77- others(738): Show c.77-45382_77-45381insTCCCCCTCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCAC CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCACCCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCC CTCCCCACCCCTTCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTTCCCTTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356681	C C	CCCCCTCC others(714): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0113 a0001c0001t0012g0113	1	150	0.0067	721	c.77- others(738): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(714): Show CCCCCTCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCACCCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCTCCCCACCCCTTC CCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCC CCTCCCCTCCCCCTTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	158	0.0063	721	c.22+ others(738): Show c.22+36329_22+36330insTCCCCCTCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCC CCTCCCCCTTCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCCACCCCCTTCCCCCCTCCCCCCCCTCCCCAC CCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCACCCCTTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTC CCCCTCCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTCCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCC CTCCCCACCCCTTCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTTCCCTTCCCCTCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356681	C C	CCCCCTCC others(714): Show CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTT CCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CATCCCCTCCCCTCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCATCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCTTCC CCCTTTCCCTTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0093 a0001c0001t0010g0093	1	158	0.0063	721	c.22+ others(738): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCTCCCCTCCCCATCCC CTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCTTCCCCCTTTCCCTTCCCCTCCCCTGCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	316	0.0032	721	c.55 others(732): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTG TTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCA ATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACT ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTG GTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTG ACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCA TTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG06807.hp2 HG02145.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0210 a0001c0002t0002g0019 a0001c0002t0002g0210	2	316	0.0063	721	c.55 others(732): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGG TATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTG TTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCA ATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACT ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTG GTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTG ACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCA TTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTTG GCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	316	0.0032	721	c.55 others(732): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAACAAACAAAAACATAGGTATC TTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTG TTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCA ATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACT ATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTG GTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTG ACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCA TTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGCC others(714): Show GGGGGGCCTGGAGGCACAAGGCAGGAAAGGCACTGGGTGGGGGGCCTGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTTAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGTTAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	373	0.0027	721	c.115 others(738): Show c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTAACCCTCCAGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT CCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTAACCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG CCCCCCACCCAGTGCCTTTCCTGCCTTGTGCCTCCAGGCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(714): Show GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGGAGGGT GGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAG GGCAGAGGAGGGGAGAGGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGA AGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGAGGGGGAAGG GGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAG GGGGGAGGGGAGGAGGGAGGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGG GGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGA AGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGGAGGGGGAGGCGAAGGGG GAGGAGGGAGGGGAGAGGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGG GAGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGG GGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	721	c.12 others(732): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCTCCCCCTCCCTCCT CCCCTCCCTCCTCCCCTCCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCCTCCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTTCCCCTCCCCTC CCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCC TCCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCC CCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCC CCTCCCCCTCCCCTCCCCCCTCCCTCCTCCCCTCCCCCCTCCCCCTCCCC TTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCC CTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTG CCCTCCCCTCCCTCCTCCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTC CTCCCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCC TCCTTTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(714): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGGAGGGGAGGCGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGG AGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGG GGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	721	c.12 others(732): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCCTTCCCCTCCCCT CCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCT CCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCT CCCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCC CTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCT TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(714): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGGAGGAGGGAGGGGAGGGGAGGGG AAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGG GAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGG AGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAG GGGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGG GGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	721	c.12 others(732): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCC TCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCC TCCCCCTCCCCTCCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTC CCCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCT CTCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCC CTCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTC CCCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCT TTCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SPAAR_chr9_35904490_35916686	35914229	G G	GGTGAGTG others(714): Show GGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGT GTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCT GTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTA AGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTACTTGGTAGTAGCATTCTTAAGGAAATTGTAATCGT GGTAGTTGTGCTTCCTACTCTAGACTTTCAGTGTTATGCAGTGCTCGTTT GTAACTTTGTTAGTTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	721	c.35 others(732): Show c.3538_*3539insGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGT GTGTAAGCTGTATGTGTGTAGTGTGTATTTTTTTATGCTGTAGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTG GTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGC TGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTTTTTGTATGCTG TGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTT GCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGTTGTATGTGTACTTGGTAGTAGCATTCTTAA GGAAATTGTAATCGTGGTAGTTGTGCTTCCTACTCTAGACTTTCAGTGTT ATGCAGTGCTCGTTTGTAACTTTGTTAGTTGTAGTGAGTGTGTGTGTTTT TGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2544		chr9	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(714): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAA GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGA AAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGG AAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGA GGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp1 HG02451.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0048 a0001c0001t0038 a0001c0001t0048	a0001c0001t0038g0247 a0001c0001t0048g0246 a0001c0001t0038g0247 a0001c0001t0048g0246	2	322	0.0062	721	c.597 others(738): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCT TTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCC TCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT TCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCT CCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
TMEM132C_chr12_128262170_128712911	128648280	A A	ATGAGTGT others(714): Show ATGAGTGTGTTTACTGGAGTCCATTAGCATTGGAAGTGAGTGTGTTTACT GGAGTCCATCAGCATTGGATATGAGCGTGTTTACTGGAGTCCATCAGCGT TGGATGAGTGTGTTTACTAGATCCCATCAGTGTTGGATGTGAGTGTGTTT ACTGGAGTCCATCAGCGTTGGATATGAGTGTGTTTACTGGAGTCCATCAG CATTGGATATGAGTGTGTTTACTGGAGTCTATCAGCGTTGGATGAGTGTG TTTACTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGGAGTCCATCA GCACTGGATGTGAGTGTGTTTAGCTCAGTCCATCAGCGTTGGATGAGTGT GTTTACTGGAGTCCATCGGTGTTGGATGTGAGTGTGTTTACTGGAGTCCA TCAGCATTGGATGTGAGTGTGTTTAGCTCAGTCCATCAGCGTTGGATGAG TGTGTTTACTGGAGTCCATTGGCGTTGGATGTGAGTGTGTTTAGCTCAGT CCATCAGCGTTGGATGAGTGTGTTTACTAGAGTCCATCAGCATTGGATGT GAGTGTGTTTACTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGGAG TCCATCAGCATTTGATGTGAGTGTGTTTACTGGATCCCATCAGCATTGGA TGTGAGTGTGTTTACTGGAGTCCATCAGCGTTGGATGTGAGTGTGTTTAC TAGATCCCATCAGTGTTGGATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0010 a0010	a0010c0027 a0010c0069 a0010c0027 a0010c0069	a0010c0027t0001 a0010c0069t0001 a0010c0027t0001 a0010c0069t0001	a0010c0027t0001g0148 a0010c0069t0001g0021 a0010c0027t0001g0148 a0010c0069t0001g0021	2	170	0.0118	721	c.130 others(742): Show c.1306-20908_1306-20907insATCAGCGTTGGATGAGTGTGTTTA CTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGGAGTCCATCAGCAC TGGATGTGAGTGTGTTTAGCTCAGTCCATCAGCGTTGGATGAGTGTGTTT ACTGGAGTCCATCGGTGTTGGATGTGAGTGTGTTTACTGGAGTCCATCAG CATTGGATGTGAGTGTGTTTAGCTCAGTCCATCAGCGTTGGATGAGTGTG TTTACTGGAGTCCATTGGCGTTGGATGTGAGTGTGTTTAGCTCAGTCCAT CAGCGTTGGATGAGTGTGTTTACTAGAGTCCATCAGCATTGGATGTGAGT GTGTTTACTGGAGTCCATCAGCATTGGATGAGTGTGTTTACTGGAGTCCA TCAGCATTTGATGTGAGTGTGTTTACTGGATCCCATCAGCATTGGATGTG AGTGTGTTTACTGGAGTCCATCAGCGTTGGATGTGAGTGTGTTTACTAGA TCCCATCAGTGTTGGATGTGAGTGTGTTTACTGGAGTCCATTAGCATTGG AAGTGAGTGTGTTTACTGGAGTCCATCAGCATTGGATATGAGCGTGTTTA CTGGAGTCCATCAGCGTTGGATGAGTGTGTTTACTAGATCCCATCAGTGT TGGATGTGAGTGTGTTTACTGGAGTCCATCAGCGTTGGATATGAGTGTGT TTACTGGAGTCCATCAGCATTGGATATGAGTGTGTTTACTGGAGTCT	TMEM132C	ENSG00000181234.10	transcript	ENST00000435159.3	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(714): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	94	0.0106	721	c.969 others(738): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(714): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACCAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	94	0.0106	721	c.969 others(738): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTGGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(714): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG02280.hp2 others(1): Show HG00408.hp2 HG01106.hp2 HG02280.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0005	a0001c0001t0014 a0001c0002t0004 a0001c0007t0019 others(1): Show a0001c0001t0014 a0001c0002t0004 a0001c0007t0019 a0003c0005t0001	a0001c0001t0014g0004 a0001c0002t0004g0011 a0001c0007t0019g0043 others(1): Show a0001c0001t0014g0004 a0001c0002t0004g0011 a0001c0007t0019g0043 a0003c0005t0001g0069	4	94	0.0426	721	c.969 others(738): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(714): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02109.hp1 HG02109.hp2 others(8): Show HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp2 HG02647.hp2 HG02965.hp1 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0027 a0001c0002t0001 a0002c0003t0026	a0001c0001t0001g0012 a0001c0001t0003g0040 a0001c0001t0005g0042 others(8): Show a0001c0001t0001g0012 a0001c0001t0003g0040 a0001c0001t0005g0042 a0001c0001t0007g0006 a0001c0001t0007g0029 a0001c0001t0012g0002 a0001c0001t0015g0005 a0001c0001t0027g0094 a0001c0002t0001g0010 a0001c0002t0001g0074 a0002c0003t0026g0093	11	94	0.1170	721	c.969 others(738): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538900	G G	GGACCCCT others(714): Show GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01192.hp2 HG01433.hp1 HG00099.hp1 HG01192.hp2 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0038 a0001c0001t0002g0058 a0001c0001t0003g0084 a0001c0001t0002g0038 a0001c0001t0002g0058 a0001c0001t0003g0084	3	94	0.0319	721	c.969 others(738): Show c.969-7696_969-7695insACTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538940	T T	TGACCCCT others(714): Show TGACCCCTGGCAATAGGTCAGAAGGAGCGTTGGCTACTACTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0080 a0001c0016t0003g0080	1	94	0.0106	721	c.969 others(738): Show c.969-7736_969-7735insCCTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCAGTAGTAGCCAACGCTCCTTCTGACCTATTGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538940	T T	TGACCCCT others(714): Show TGACCCCTGGCAATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGGTC AGAAGGAGCGTTGGCTACTAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01074.hp2 others(10): Show HG00408.hp1 HG00741.hp1 HG01074.hp2 HG02040.hp1 HG02083.hp2 HG02451.hp2 HG02698.hp1 HG03017.hp2 HG03239.hp1 HG03471.hp1 HG03710.hp1 HG03831.hp1 NA19091.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0004c0017 a0005c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0022 a0001c0002t0011 a0001c0004t0001 a0003c0005t0001 a0004c0017t0001 a0005c0011t0001	a0001c0001t0001g0015 a0001c0001t0003g0085 a0001c0001t0005g0037 others(10): Show a0001c0001t0001g0015 a0001c0001t0003g0085 a0001c0001t0005g0037 a0001c0001t0005g0056 a0001c0001t0006g0051 a0001c0001t0022g0086 a0001c0002t0011g0001 a0001c0004t0001g0036 a0001c0004t0001g0057 a0001c0004t0001g0060 a0003c0005t0001g0019 a0004c0017t0001g0016 a0005c0011t0001g0055	13	94	0.1383	721	c.969 others(738): Show c.969-7736_969-7735insCCTAGTAGCCAACGCTCCTTCTGACCCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATTGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129538940	T T	TGACCCCT others(714): Show TGACCCCTGGCAATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGATCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG GGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCA GAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGT TGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAG TGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGG CGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGTGATAGGGTC AGAAGGAGCGTTGGCTACTAGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp1 HG03041.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0020 a0001c0002t0004g0009 a0001c0001t0003g0020 a0001c0002t0004g0009	2	94	0.0213	721	c.969 others(738): Show c.969-7736_969-7735insCCTAGTAGCCAACGCTCCTTCTGACCCT ATCACCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTA GCCAACGCTCCTTCTGACCTATCGCCAGGGATCACTAGTAGCCAACGCTC CTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCT ATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGG GTCACTAGTAGCCAACGCTCCTTCTGACCTATTGCCAGGGGTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	352	0.0028	721	c.34 others(732): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAAAACCAGCCAACCAACCAGGTAAG ATACCTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTT GCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAA CCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTAG CTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTTA GTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGACC TCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTG GTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG06807.hp1 HG02145.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0176 a0001c0001t0003g0023 a0001c0001t0003g0176	2	352	0.0057	721	c.34 others(732): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAAAACCAGCCAACCAACCAGGTAAG ATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTT GCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAA CCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTAG CTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTTA GTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGACC TCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(714): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTTG GCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGA CGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAG CTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCC TCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTT TGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCG AACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGG ATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCT CCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTG CAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	721	c.34 others(732): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTGTTTTTTTTTTTTTTGAGACGGAGTCTT GCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAA CCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTAG CTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTTA GTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGACC TCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMPRSS2_chr21_41459305_41513158	41474326	A A	AGGGGGTG others(714): Show AGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTG AGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTG AGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAG TGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGAGTGAGGAGGTG AGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAG GGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTG AGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGG TGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTG AGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTG AGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAG TGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTG AGGGGGTGGGTGAGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0041 a0002c0005t0001g0041	1	382	0.0026	721	c.728 others(736): Show c.728-831_728-830insCTCACCTCCTCACCCACCCCCTCACTCACT CCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCC CTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACT CCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCC CTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCT CACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCC CTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCT CACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCC CTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCT CACTCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCC CTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACT CCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCC CTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCT CACTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCC CTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(714): Show CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCT CCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCC CTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCGTC CCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCATCCCCCTCCCCCTCCCCCTTCCCCTCCCCTCCCCCTC CCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0003 a0003c0014t0003	a0003c0014t0003g0044 a0003c0014t0003g0044	1	114	0.0088	721	c.-25 others(740): Show c.-25-12108_-25-12107insCCCTCTCCCCTCCCCTCTCCCCTCCC CTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCC CCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCCCTC TGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCC CTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCCCTCCCCTCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCTCCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCATCCCCCTCCCCCTCCCCCTTCCCCTCCC CTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCT CCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418765	T T	TCCCCTTC others(714): Show TCCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTTC CTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTT CCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTC CCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTA CCTCTCCTTTCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTC CCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCT CCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTT TCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCT TCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCC TTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCC CTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTC CCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTT CCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCA TCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCC TCCCTCCCTCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0112 a0002c0005t0002g0112	1	114	0.0088	721	c.215 others(738): Show c.2154+627_2154+628insCCCCTTCCCTCCCTCCCTTTCCTTCCCT TCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACT TCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCC CTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTCCCTACCTCCCCTTCC CTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTC CTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTC CCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTC CCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCT CCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCC TCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCC TCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTT CCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18			chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(714): Show ACACGCCACACACACAGGCACGCCACACACGCACGCCACACACGCATGCC ACACACGCACGCCACACGCATGCCACACACAGCCACGCCACACACACACG CCACACACACACAGGCACGCCACACACGCACGCCACACACACGCATGCCA CACACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACACAC ACACGCCACACACACGCACGCCACACACGCACGCCACACACGCACGCCAC ACACATGCACGCCACATACGCCCGCCACACACGCACGCCACACACGCACG CCACACAGGCACCCCACACAAGCACGCCACACACACGCACGCCACACACA CACGCACGCCACAAACGCACGCCACACACGCACGCCACACGCACGCCAGC CACACACGCCAGCCACACACGCACGCCAGCCACACGCACGCACACACGCA CGCCACACGCACGCCACACACGAACGCCACACAAACGCCACACACGAATG CCACACGCACGCCACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACAGGCACGCCACACACGCACGCCACACACAGGCATGCCAAACA CGCACGCCACACATGCACGCCACACACACAGGCACACCACACACAGGCAC GCCACACACACAGGCACGCCACACACATGCACGCCACACACACAGGCACG CCACACACATGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0124 a0002c0006t0001g0124	1	430	0.0023	721	c.961 others(736): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGGCATTCGTG TGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGGCGTGCGTGTG TGCGTGCGTGTGGCTGGCGTGCGTGTGTGGCTGGCGTGTGTGGCTGGCGT GCGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTG GCGTGCGTGTGTGTGGCGTGCTTGTGTGGGGTGCCTGTGTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGGGCGTATGTGGCGTGCATGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGG CGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGC GTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTG TGTGGCGTGGCTGTGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCATGCG TGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	ATCACCCC others(714): Show ATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATACCCCATCACCCCTGAATTAATCCCCCCATCACCCCTG GATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTA ATCCCCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATAC CCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCAT CACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCATCACCCC TGAATTAATCCCCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGA TTAATACCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAAT CCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCAC CCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCT GGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATT AATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCC CCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCC ATCAGCCCTGGATTAATACCCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0210 a0002c0006t0001g0210	1	344	0.0029	721	c.141 others(740): Show c.1418-5719_1418-5718insTCACCCCTGAATTAATCCCCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTG AATTAATCCCCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATT AATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGATTAATCC CCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCA TCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCC CTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCACCCCTGGA TTAATCCCCCCACCACCCCTGGATTAATACCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCC CATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCA CCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCT GGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCAGGAT TAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCC CCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCA ATCACCCCTGGATTAATCCCCCCATCAGCCCTGGATTAATACCCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(714): Show TATAATAATATATATTATTATATGTTATTATATATAATAATATAATATAT ATTATTATATGTTATTATATATAATAATATAATATATATTATTATATGTT ATTATATATAATAACATATTATATATTATGTTATTATATATAATAACATA ATATATATTATATGTTATTATATATAATAACATAATATATATTATTATAT GTTATTATATATAATAACATAATATATATTATTATATGTTATTATATATA ATAACATAATATATATTATTATATGTTATTATATATAATAACATAATATA TATTATTATATGTTATTATATATAATAACATAATATATATTATTATATGT TATTATATATAATAATATAATATATATTATTATATGTTATTATATATAAT AATATAATATATATTATTATATGTTATTATATATAATAATATATATTATA TTATTATATGTTATTATATATAATAATATAATATATATTATTATATGTTA TTATATATAATATATATTATATTATATATAATAATATAATATATATTATA TTATTATATATAATAATATAATATATATTATTATATATTATATATTATTA TATATAATATATATATAATTATATTATTATATATTATTATATATAATATA TATAATTATATATATATTATATATATTATATATAATAATAATATATATAA TTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0205 a0002c0003t0011g0205	1	238	0.0042	721	c.392 others(738): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATATTATTATATATAATAACATATAATAATATATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7678857	T T	TATATTTA others(714): Show TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	250	0.0040	721	c.82+ others(736): Show c.82+5411_82+5412insCATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATACATATTTA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678884	T T	TATATTTA others(714): Show TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0199 a0001c0001t0038g0199	1	250	0.0040	721	c.82+ others(736): Show c.82+5438_82+5439insCATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAA TATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTA TAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTA TAAATACATATTTACATATTTAGTTTATAAATACATATTTA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX3A_chrX_6528618_6540118	6533065	C C	CCCTCCCT others(714): Show CCCTCCCTCCCTCCCCACACACCTCTTCCTTCCTCCCTCCCCACACACCT CCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCT CCCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCC TCTTCCTCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCC TCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCC TCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCT CCTCCCTCCCCACACACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	74	0.0135	721	c.67 others(730): Show c.679_*680insAAGAGGTGTGTGGGGAGGGAGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGAAGGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		552		chrX	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(714): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGG TGGCTTACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0086 a0001c0001t0014g0086	1	274	0.0037	721	c.51 others(732): Show c.5167_*5168insTTGGGATTACAGGCGTAAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(714): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAA CAAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGT GTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTT CTTTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGG TGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	274	0.0037	721	c.51 others(732): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(714): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGG TGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01109.hp2 others(16): Show HG00597.hp2 HG00735.hp1 HG01109.hp2 HG01256.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02630.hp1 HG02683.hp2 HG03492.hp2 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp2 NA18944.hp2 NA18946.hp1 NA18990.hp2 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0017 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0033 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0015g0087 a0001c0001t0017g0081 a0002c0003t0001g0009 a0002c0003t0001g0104	19	274	0.0693	721	c.51 others(732): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(714): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGG TGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18990.hp1 NA18968.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0001 a0001c0001t0001g0073	2	274	0.0073	721	c.51 others(732): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(714): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACAA AAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTGTTTTTGAGATGGT GTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACA GGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTT CTTTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGG TGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	274	0.0037	721	c.51 others(732): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGT TTTTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(714): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAACAACAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGG TGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	274	0.0037	721	c.51 others(732): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTGTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(714): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCT CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTT CCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	246	0.0041	721	c.-10 others(738): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(714): Show TTATATATAAATATATAACTATATTATAATATAGTTATAATATATAAATA TATATTATAACTATATTAAATATATAAATTATATAATATATATTATATAT TGTATATTATATAATTTATATAATATATTATATGTTATATAATATATATT ATATATTGTATATATTATATTATATATTATATATTTTATATATCATATAT AGTATGCTATATAATATATATTTTTATATATTATATAGTATACTATATAT TTTTATATATTATATAGTATACTATATAATATATATTTTTATATATTATA TATAATATATATAATTATATATCATATATATTTATATAATATATGATATA TAATATATAATATATATTATGTATTATATAATTATATAAAATATATCATA TATTATATATTATAAATAATATATTATATATTATATTATATATTATAAAT AATATATTATATATTATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTACATATTATAAATAATATATATTATATTATA TATTATAAATAATATATTATATATTATATTATAAATAATATATTATATAT TATAAATAATATATTATATATTATATTATAAATAATATATATTATAAATA ATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0004 a0001c0001t0048g0004	1	302	0.0033	721	c.-1- others(738): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATAATATATAAATATATATTATAACTATATTAAATATATAAATTATAT AATATATATTATATATTGTATATTATATAATTTATATAATATATTATATG TTATATAATATATATTATATATTGTATATATTATATTATATATTATATAT TTTATATATCATATATAGTATGCTATATAATATATATTTTTATATATTAT ATAGTATACTATATATTTTTATATATTATATAGTATACTATATAATATAT ATTTTTATATATTATATATAATATATATAATTATATATCATATATATTTA TATAATATATGATATATAATATATAATATATATTATGTATTATATAATTA TATAAAATATATCATATATTATATATTATAAATAATATATTATATATTAT ATTATATATTATAAATAATATATTATATATTATATTATATATTATAAATA ATATATTATATATTATATTATATATTATAAATAATATATTATATATTATA TTATATATTATAAATAATATATTATATATTATATTACATATTATAAATAA TATATATTATATTATATATTATAAATAATATATTATATATTATATTATAA ATAATATATTATATATTATAAATAATATATTATATATTATATTATAAATA ATATATATTATAAATAATATATTATATATAATATGTTATATAT	ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(714): Show CCCTCCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCT TCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCC TCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTC CCCCTTACCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTC CCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCC CTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCTCCCCTAC CCTCCTCCCTCCCCTTCCCTCCTCCCCTCCCCCTCCCCGTCCCCTCCTCC TCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCC CCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCC TCCCCCCTCCCCCTTCTCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTC CCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCC CCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCT CCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	322	0.0031	721	c.4-1 others(734): Show c.4-1376_4-1375insCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCCTCCTCCCTCCCCCCTCCC CTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCT TCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTACCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCC TCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCC TTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCC CTCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCCTCCCCCTCCCCG TCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCC TCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCC CTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCTCTCCCCTCCCCTCCCCTT CCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCA TCTTCCCTCCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCT CACCTGTCCCTCCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(715): Show ACACCCACACACCCATACACACACCAGACCCCCACACCCCCACACACAGC CACACCCCCACACCCATACACACACACCCACCCACCCACACCCACACCCA CCACACACACCCACACCCCCCCCACACACCCACATACCCCCACCACACAC CCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCACCAC ACACCCACATACACCCACACCCCCACCACACACCCCCACATACTAATACA CACACACACCCACACCCTCCCACCCCCCCCACCACACACCAATACACACC CACACACCCCCTCACACACACACCCACACACCCACACACCCACCACACAC CCATACATACACACCCCCACACCCCCTCACACCCTCCCCCCACTCACCCA TACACAACCCCCACCACACCCCCACACCCATACACACACACACCCCCACC ACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCCACAC ACCCATACACACACCCCCACCACACCCCCACACCCATACACACACACCCG TACCCCCTCACACCCTCCCCCCACACACCCATCCCCACCACACACCCATA CACACACACCCACACACACACCACACCCATACACACACATACCCCCACAC CCCCACACACACCCTCCCTCACACACACCCCCACCACACACCCATACACA CCCCAACCCCCCACACACACACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02723.hp1 others(1): Show HG01891.hp2 HG02559.hp1 HG02723.hp1 HG02886.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0049 a0001c0068 a0002c0061 others(1): Show a0001c0049 a0001c0068 a0002c0061 a0015c0062	a0001c0049t0003 a0001c0068t0003 a0002c0061t0003 others(1): Show a0001c0049t0003 a0001c0068t0003 a0002c0061t0003 a0015c0062t0003	a0001c0049t0003g0067 a0001c0068t0003g0007 a0002c0061t0003g0055 others(1): Show a0001c0049t0003g0067 a0001c0068t0003g0007 a0002c0061t0003g0055 a0015c0062t0003g0013	4	248	0.0161	722	c.387 others(741): Show c.3871-3767_3871-3766insGGTGTGTGTGTGGGGGGTTGGGGTGT GTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTGTG TGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTG TGTGGTGGGTGTGTGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGT GTGTATTGGTGTGTGGTGGGGGGGGTGGGAGGGTGTGGGTGTGTGTGTGT ATTAGTATGTGGGGGTGTGTGGTGGGGGTGTGGGTGTATGTGGGTGTGTG GTGGGGGTGTGTGGTGGGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTG TGTGGTGGGGGTATGTGGGTGTGTGGGGGGGGTGTGGGTGTGTGTGGTGG GTGTGGGTGTGGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGCT GTGTGTGGGGGTGTGGGGGTCTGGTGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(715): Show ACACCCACACACCCATACACACACCAGACCCCCACACCCCCACACACAGC CACACCCCCACACCCATACACACACACCCACCCACCCACACCCACACCCA CCACACACACCCACACCCCCCCCACACACCCACATACCCCCACCACACAC CCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCACCAC ACACCCACATACACCCACACCCCCACCACACACCCCCACATACTAATACA CACACACACCCACACCCTCCCACCCCCCCCACCACACACCAATACACACC CACACACCCCCTCACACACACACCCACACACCCACACACCCACCACACAC CCATACATACACACCCCCACACCCCCTCACACCCTCCCCCCACTCACCCA TACACAACCCCCACCACACCCCCACACCCATACACACACACACCCCCACC ACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCCACAC ACCCATACACACACCCCCACCACACCCCCACACCCATACACACACACCCG TACCCCCTCACACCCTCCCCCCACACACCCATCCCCACCACACACCCATA CACACACACCCACACACACACCACACCCATACACACACATACCCCCACAC CCCCACACACACCCTCCCTCACACACACCCCCACCACACACCCATACACA CCCCAATCCCCCACACACACACC	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA20300.hp1 HG01981.hp1 NA20300.hp1	a0001 a0001	a0001c0054 a0001c0066 a0001c0054 a0001c0066	a0001c0054t0003 a0001c0066t0003 a0001c0054t0003 a0001c0066t0003	a0001c0054t0003g0131 a0001c0066t0003g0035 a0001c0054t0003g0131 a0001c0066t0003g0035	2	248	0.0081	722	c.387 others(741): Show c.3871-3767_3871-3766insGGTGTGTGTGTGGGGGATTGGGGTGT GTATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTG TGGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTAT GGGTGTGTGGTGGGGATGGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGG GTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTGTGTGTATGGGTGTG TGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGT GGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTG TGTGGTGGGTGTGTGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGT GTGTATTGGTGTGTGGTGGGGGGGGTGGGAGGGTGTGGGTGTGTGTGTGT ATTAGTATGTGGGGGTGTGTGGTGGGGGTGTGGGTGTATGTGGGTGTGTG GTGGGGGTGTGTGGTGGGTGTGGGTGTGTGTGTGAGGGGGTGTGTGGGTG TGTGGTGGGGGTATGTGGGTGTGTGGGGGGGGTGTGGGTGTGTGTGGTGG GTGTGGGTGTGGGTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGCT GTGTGTGGGGGTGTGGGGGTCTGGTGTGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar

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Search Results (Total: 8931 hits)