Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(193): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 NA18942.hp2 HG02132.hp1 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0048 a0001c0001t0012g0103 a0001c0001t0002g0048 a0001c0001t0012g0103	2	322	0.0062	200	c.46 others(211): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(193): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0174 a0002c0002t0003g0174	1	322	0.0031	200	c.46 others(211): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(193): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0031 a0001c0009t0031	a0001c0009t0031g0286 a0001c0009t0031g0286	1	322	0.0031	200	c.46 others(211): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532291	C C	CTGCAGCC others(193): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0255 a0002c0003t0001g0255	1	322	0.0031	200	c.47 others(211): Show c.4714_*4715insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2969		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532297	C C	CCCCCCGC others(193): Show CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGAC CCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCT CCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0008 a0001c0027t0008	a0001c0027t0008g0030 a0001c0027t0008g0030	1	322	0.0031	200	c.47 others(211): Show c.4720_*4721insCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCC CGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGG CAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2975		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(193): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	322	0.0031	200	c.47 others(211): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(193): Show CTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0185 a0001c0017t0003g0185	1	322	0.0031	200	c.47 others(211): Show c.4754_*4755insTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NINL_chr20_25447697_25590531	25548755	G G	GCTGACCC others(193): Show GCTGACCCCAGCACCCACGGCCACAGCTCCCACACAGAGACTCACCCAAG GCTGGCCCCAGCACCCATGGCCACACCTCCCACATCCAGCTTCATCCAGG GCTGACCCCAGCACCCACGGCCACAGGTCCCACACCCAGCCTCACCCAAG GCTGACCCCAGTACCCACGGCCACACCTCCCACACCCAGCCTCACCCAGG C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0122 a0005c0004t0001g0122	1	310	0.0032	200	c.-11 others(219): Show c.-11-22158_-11-22157insGCCTGGGTGAGGCTGGGTGTGGGAGG TGTGGCCGTGGGTACTGGGGTCAGCCTTGGGTGAGGCTGGGTGTGGGACC TGTGGCCGTGGGTGCTGGGGTCAGCCCTGGATGAAGCTGGATGTGGGAGG TGTGGCCATGGGTGCTGGGGCCAGCCTTGGGTGAGTCTCTGTGTGGGAGC TGTGGCCGTGGGTGCTGGGGTCAG	NINL	ENSG00000101004.16	transcript	ENST00000278886.11	protein_coding	1/23			chr20	TogoVar
NLRP12_chr19_53788741_53829314	53819647	G G	GTATATAC others(193): Show GTATATACATGCGTATATATGTATGTATACGTATATACATGCGTATATAT GTATGTATACGTATATACATGCGTATATATGTATGTATACGTATATACAT GCGTATATATGTATGTATATGTATATATACACACACGTATATATATGTAT GTATACGTATATATATATACACACACGTATATATATGTATGTATACGTAT A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0002 a0011c0021t0002	a0011c0021t0002g0013 a0011c0021t0002g0013	1	416	0.0024	200	c.289 others(217): Show c.289+4238_289+4239insTATACGTATACATACATATATATACGTG TGTGTATATATATATACGTATACATACATATATATACGTGTGTGTATATA TACATATACATACATATATACGCATGTATATACGTATACATACATATATA CGCATGTATATACGTATACATACATATATACGCATGTATATACGTATACA TACATATATACGCATGTATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930880	A A	ATATATAT others(193): Show ATATATATATATATATATACACACACGTATATATATACATATATATACAT ACACATATATATATACATATATATACATACACATATATATACATATATAT ACATACACATATATATACATATATATACATACACATATATATACATACAT ATACATACACATATATATATACATACACATATATATATACATATATATGT G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp2 HG02257.hp2 others(4): Show HG01346.hp1 HG02109.hp2 HG02257.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG03540.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0018 a0001c0002 a0005c0018	a0001c0002t0001 a0005c0018t0001 a0001c0002t0001 a0005c0018t0001	a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 others(4): Show a0001c0002t0001g0094 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0102 a0005c0018t0001g0093 a0005c0018t0001g0101	7	440	0.0159	200	c.319 others(217): Show c.319+1112_319+1113insCACATATATATGTATATATATATGTGTA TGTATATATATATGTGTATGTATATGTATGTATATATATGTGTATGTATA TATATGTATATATATGTGTATGTATATATATGTATATATATGTGTATGTA TATATATGTATATATATATGTGTATGTATATATATGTATATATATACGTG TGTGTATATATATATATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850143	T T	TAATTTCC others(193): Show TAATTTCCGAGACTGCGGTGTAATTTCCGAGACTGTGGTGTAATTTCCGT AGCTGTGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTG TGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGA GACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTG G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0402 a0002c0002t0010g0402	1	424	0.0024	200	c.-65 others(217): Show c.-65-1863_-65-1862insACTGCGGTGTAATTTCCGAGACTGTGGT GTAATTTCCGTAGCTGTGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG TAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGT GTGATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCG AGACTGCGGTGGAATTTCCGAG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850373	G G	GACTGCGG others(193): Show GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGT A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0346 a0001c0001t0004g0346	1	424	0.0024	200	c.-65 others(217): Show c.-65-1643_-65-1642insACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850373	G G	GACTGCGG others(193): Show GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGA GACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTG TGATTTCTGTAGCTGCGGTGTGATTTCTGTAGCTGCGGTGTGATTTCCGT A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0403 a0001c0005t0003g0403	1	424	0.0024	200	c.-65 others(217): Show c.-65-1643_-65-1642insACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCG AGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGT GTGATTTCCGAGACTGCGGTGTGATTTCTGTAGCTGCGGTGTGATTTCTG TAGCTGCGGTGTGATTTCCGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851012	T T	TGGCTGCG others(193): Show TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTACTTCCCG AGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0324 a0001c0006t0002g0324	1	424	0.0024	200	c.-65 others(215): Show c.-65-985_-65-984insTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTACTTCCCG AGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851032	A A	AGGCTGCG others(193): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTCCCG AGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0385 a0002c0003t0011g0385	1	424	0.0024	200	c.-65 others(215): Show c.-65-912_-65-911insCTTCCCGAGGCTGCGGTGTACTTCCCGAGG CTGCGGTGTACTTCCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTA ATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGG CTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTA ATGTCCGTGGCTGCGGTGTA	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851128	T T	TCCGAGGC others(193): Show TCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTT CCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTG CGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATT C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0223 a0002c0002t0008g0223	1	424	0.0024	200	c.-65 others(215): Show c.-65-870_-65-869insGTCCGTGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACT TCCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCT GCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAAT TCCCGAGGCTGCGGTGTAAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851469	C C	CCGTGGCT others(193): Show CCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGT CCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTT A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0297 a0003c0007t0002g0297	1	424	0.0024	200	c.-65 others(215): Show c.-65-545_-65-544insTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATTTACG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851469	C C	CCGTGGCT others(193): Show CCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGT CCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGC GGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTT A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0320 a0001c0001t0006g0320	1	424	0.0024	200	c.-65 others(215): Show c.-65-545_-65-544insTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATTTACG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55851593	A A	AGGCTGCG others(193): Show AGGCTGCGGTGTAATGTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGTGGTGTAATGTCCG T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00639.hp2 HG00642.hp2	a0001 a0003 a0001 a0003	a0001c0034 a0003c0007 a0001c0034 a0003c0007	a0001c0034t0002 a0003c0007t0016 a0001c0034t0002 a0003c0007t0016	a0001c0034t0002g0296 a0003c0007t0016g0295 a0001c0034t0002g0296 a0003c0007t0016g0295	2	424	0.0047	200	c.-65 others(215): Show c.-65-404_-65-403insAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATTTACGAGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATGTCCGAGGCTGCGGTGTAATGTCCGTGGCTGTGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535804	C C	CCTGGGGC others(193): Show CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTC CCGGGGCAATGGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCT CCCGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCC TCCCAGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCC T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0063 a0001c0017t0002g0063	1	324	0.0031	200	c.140 others(217): Show c.140+8219_140+8220insAGGGATCCTGAGTGCTCCCCCCCACCCA CCATGCACCCATTGCCCCTGGGAGGGATCCTGAGTGATCCCCCCTCCACC CACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCTCTCCAC CCACCCTGCACCCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCCACC CACCATGCACCCATTGCCCCAG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(193): Show ATATATATATTTATATATATATGTATATATATATTTATATATATATGTAT ATATATATTTTTATATATATGTATAGATATATTTTTATATATATATGTAT ATATATATTTTTATATATATATGTATATATATATTTTTATATATATATGT ATATATATATTTTTTTATATATATGTATATATATATTTTTTTATATATAT G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0211	1	260	0.0039	200	c.384 others(219): Show c.384+14147_384+14148insTTATATATATATGTATATATATATTT ATATATATATGTATATATATATTTTTATATATATGTATAGATATATTTTT ATATATATATGTATATATATATTTTTATATATATATGTATATATATATTT TTATATATATATGTATATATATATTTTTTTATATATATGTATATATATAT TTTTTTATATATATGTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34792703	A A	ATATATAT others(193): Show ATATATATATTTATATATATATGTATATATATATTTATATATATATGTAT ATATATATTTTTATATATATGTATATATATATTTTTATATATATATGTAT ATATATATTTTTATATATATATGTATATATATATTTTTATATATATATGT ATATATATATTTTTTTATATATATGTATATATATATTTTTTTATATATAT G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0233 a0001c0008t0003g0233	1	260	0.0039	200	c.384 others(219): Show c.384+14147_384+14148insTTATATATATATGTATATATATATTT ATATATATATGTATATATATATTTTTATATATATGTATATATATATTTTT ATATATATATGTATATATATATTTTTATATATATATGTATATATATATTT TTATATATATATGTATATATATATTTTTTTATATATATGTATATATATAT TTTTTTATATATATGTATATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRIP1_chr21_14956235_15070000	15030905	C C	CACATTCC others(193): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGGTTGGAGGATCAC TACCTTCCCCTTCTATGTGTGTACACTCTGGAAGGCGTTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CCCATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0032 a0002c0003t0003g0032	1	398	0.0025	200	c.-45 others(221): Show c.-458+12589_-458+12590insAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGGGGTGATCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAACGCCTTCCAG AGTGTACACACATAGAAGGGGAAGGTAGTGATCCTCCAACCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031043	G G	GGAGGATC others(193): Show GGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTC GGAGGATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTC GGAGGGTCACTACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTC AGAGGATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTC A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0066 a0001c0002t0005g0066	1	398	0.0025	200	c.-45 others(221): Show c.-458+12451_-458+12452insTGAACACCTTCCAGAGTGTATACA CATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAGTGTACACA CATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAGTGTACACA CATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGTACACA CATAGAAAGGGAATGTGGTGATCCTC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031053	T T	TACATTCC others(193): Show TACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCACGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC CACATTCCCTTTCTATGTATATACACTCTGGAAGGCGCTCGGAGGATCAC C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG02027.hp2 others(37): Show HG00408.hp2 HG00544.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG02602.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18956.hp1 NA18963.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19056.hp1 NA19062.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp1	a0002 a0014 a0002 a0014	a0002c0003 a0002c0016 a0014c0019 a0002c0003 a0002c0016 a0014c0019	a0002c0003t0003 a0002c0003t0027 a0002c0003t0044 others(2): Show a0002c0003t0003 a0002c0003t0027 a0002c0003t0044 a0002c0016t0003 a0014c0019t0003	a0002c0003t0003g0003 a0002c0003t0003g0021 a0002c0003t0003g0022 others(36): Show a0002c0003t0003g0003 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0027g0030 a0002c0003t0044g0038 a0002c0016t0003g0045 a0014c0019t0003g0263	40	398	0.1005	200	c.-45 others(221): Show c.-458+12441_-458+12442insGGTGATCCTCCGAGCGCCTTCCAG AGTGTATATACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTGGTGATCCTCCGTGCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(193): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp2 HG01069.hp1 others(25): Show HG00140.hp2 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp2 HG01975.hp1 HG02300.hp2 HG02559.hp2 HG02683.hp1 HG03239.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04204.hp1 NA18978.hp2 NA18988.hp1 NA20805.hp2 NA20905.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0007c0009 others(1): Show a0001c0001 a0001c0002 a0007c0009 a0008c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0021 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0014 a0001c0002t0029 a0007c0009t0005 a0008c0010t0005	a0001c0001t0001g0244 a0001c0001t0004g0249 a0001c0001t0004g0250 others(23): Show a0001c0001t0001g0244 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0252 a0001c0001t0004g0261 a0001c0001t0004g0378 a0001c0001t0021g0254 a0001c0002t0002g0255 a0001c0002t0005g0007 a0001c0002t0005g0230 a0001c0002t0005g0237 a0001c0002t0005g0238 a0001c0002t0005g0248 a0001c0002t0005g0372 a0001c0002t0005g0374 a0001c0002t0005g0375 a0001c0002t0006g0008 a0001c0002t0006g0253 a0001c0002t0006g0256 a0001c0002t0008g0264 a0001c0002t0008g0376 a0001c0002t0014g0251 a0001c0002t0029g0379 a0007c0009t0005g0260 a0008c0010t0005g0257 a0008c0010t0005g0262	28	398	0.0704	200	c.-45 others(221): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAG AGTGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAG AGTGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAG AGTGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031398	A A	ATCACCAC others(193): Show ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG ATCACCACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGG ATCACCACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGG TTCACCACATTCCCTTTCTATGTATATACACTCTGGAAGGCGGTTGGAGG T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp2 HG01891.hp2 others(14): Show HG00323.hp2 HG01255.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02129.hp2 HG02135.hp1 HG02738.hp1 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18980.hp2 NA19002.hp1 NA19004.hp1 NA19057.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0021 a0001c0001 a0001c0002 a0002c0021	a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0026 a0002c0021t0040	a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 others(14): Show a0001c0001t0001g0020 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0012g0080 a0001c0001t0012g0148 a0001c0001t0025g0383 a0001c0002t0002g0137 a0001c0002t0005g0145 a0001c0002t0008g0142 a0001c0002t0026g0013 a0002c0021t0040g0131	17	398	0.0427	200	c.-45 others(221): Show c.-458+12096_-458+12097insACCTCCAACCGCCTTCCAGAGTGT ATATACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAGTGT ACACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGT ATACACATAGAAAGGGAATGTGGTGA	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NRIP1_chr21_14956235_15070000	15031631	T T	TGGAAGGC others(193): Show TGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTATACACTC TGGAAGGCGCTCGGAGGATCACCACATTCCCTTTCTATGTGTGTACACTC TGGAAGGCGTTCAGAGGTTCACCACATTCCCTTTCTATGTATATACACTC TGGAAGGCGGTTGGAGGTTCACCACATTCCCTTTCTATGTGTATACACTC C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00558.hp1 others(40): Show HG00408.hp2 HG00544.hp1 HG00558.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG02602.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG04204.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp2 NA18956.hp1 NA18963.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19011.hp1 NA19056.hp1 NA19062.hp2 NA19070.hp2 NA19077.hp2 NA19080.hp2 NA19085.hp1 NA19087.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0016 a0014c0019	a0001c0001t0004 a0001c0002t0009 a0002c0003t0003 others(4): Show a0001c0001t0004 a0001c0002t0009 a0002c0003t0003 a0002c0003t0027 a0002c0003t0044 a0002c0016t0003 a0014c0019t0003	a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0003 others(39): Show a0001c0001t0004g0063 a0001c0002t0009g0054 a0002c0003t0003g0003 a0002c0003t0003g0021 a0002c0003t0003g0022 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0003g0033 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0036 a0002c0003t0003g0037 a0002c0003t0003g0039 a0002c0003t0003g0040 a0002c0003t0003g0041 a0002c0003t0003g0042 a0002c0003t0003g0043 a0002c0003t0003g0044 a0002c0003t0003g0046 a0002c0003t0003g0047 a0002c0003t0003g0048 a0002c0003t0003g0049 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0057 a0002c0003t0003g0059 a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0027g0030 a0002c0003t0044g0038 a0002c0016t0003g0045 a0014c0019t0003g0263	43	398	0.1080	200	c.-45 others(221): Show c.-458+11863_-458+11864insGGAGTGTATACACATAGAAAGGGA ATGTGGTGAACCTCCAACCGCCTTCCAGAGTGTATATACATAGAAAGGGA ATGTGGTGAACCTCTGAACGCCTTCCAGAGTGTACACACATAGAAAGGGA ATGTGGTGATCCTCCGAGCGCCTTCCAGAGTGTATACACATAGAAAGGGA ATGTGGTGATCCTCCGAGCGCCTTCC	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NUTM2F_chr9_94313198_94333644	94313274	A A	ATACTTTA others(193): Show ATACTTTATAATTATATATTATATTACGTAATTATATTATATATTATATA AATTTATATATAATTTATATATTATATTATAATTTATAATTAATATATTT TATATATTATAAATTTATATTTTATTTATAATATTAAATTTTATATATTA ATATAATTATTATATTATATATATTATTTATATGTTATATAATATATTAA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	322	0.0031	200	c.51 others(211): Show c.5190_*5191insATTAATATATTATATAACATATAAATAATATATA TAATATAATAATTATATTAATATATAAAATTTAATATTATAAATAAAATA TAAATTTATAATATATAAAATATATTAATTATAAATTATAATATAATATA TAAATTATATATAAATTTATATAATATATAATATAATTACGTAATATAAT ATATAATTATAAAGTA	NUTM2F	ENSG00000130950.15	transcript	ENST00000253262.9	protein_coding		4923		chr9	TogoVar
NXN_chr17_794310_984776	948809	C C	CCTCCTCC others(193): Show CCTCCTCCCTATCTCCTCCGCGGCCTCCTCCTCTCTCCCCCCGGCCTCCT CCTCTCCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCGTCCCCC TGCCTCCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCTGCCTCCTCCTC TCCCCCCCTGCCTCCTCCTCTCCCCCCCCGGCCTCCTCCTCTCCCCCCCT G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	242	0.0041	200	c.360 others(219): Show c.360+30509_360+30510insCAGGGGGGGAGAGGAGGAGGCCGGGG GGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCAGGGGAGAGGAGGA GGCAGGGGGGGAGAGGAGGGAGGCAGGGGGACGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCCGGGGGGGAGAGGAGGAGGCCGGGGGGAGAGAGGAGGA GGCCGCGGAGGAGATAGGGAGGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3L2_chr19_458361_479983	473242	G G	GGGGAAAC others(193): Show GGGGAAACTGAGGCCCAGGCAGAGATACACGGTCACAGGTGGGGAAACTG AGGCCCAGGCAGAGATACACGGTCACAGATGGGGAAACTGAGGCCCAGGC AGAGATACATGGTCACAGATGGGGAAACTGAGGCCCAGGCAGAGATACAT GGTCACAGATGGGGAGACTGAGGCCCAGGCAGAGATACACGGTCACAGAT C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03579.hp2 NA20129.hp2 HG02922.hp2 HG03579.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0002 a0002c0002t0002 a0002c0003t0002	a0002c0002t0002g0046 a0002c0003t0002g0155 a0002c0002t0002g0046 a0002c0003t0002g0155	3	324	0.0093	200	c.128 others(215): Show c.128-742_128-741insGATCTGTGACCGTGTATCTCTGCCTGGGCC TCAGTCTCCCCATCTGTGACCATGTATCTCTGCCTGGGCCTCAGTTTCCC CATCTGTGACCATGTATCTCTGCCTGGGCCTCAGTTTCCCCATCTGTGAC CGTGTATCTCTGCCTGGGCCTCAGTTTCCCCACCTGTGACCGTGTATCTC TGCCTGGGCCTCAGTTTCCC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	1/3			chr19	TogoVar
ODF3_chr11_191761_205258	196510	C C	CTGGTGAG others(193): Show CTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAG GAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATG GGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	200	c.-54 others(209): Show c.-545_-544insTGGTGAGGGGACATGGGGGGGGACCTTGGTGAGGAG GACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGG GGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGG TGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGA CATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		250		chr11	TogoVar
ODF3_chr11_191761_205258	196510	C C	CTGGTGAT others(193): Show CTGGTGATGGGGACATGGGGGGGACCTTGGTGAGGAGGACCTGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGGGGACCTTGGTGAG GAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATG GGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACC T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	200	c.-54 others(209): Show c.-545_-544insTGGTGATGGGGACATGGGGGGGACCTTGGTGAGGAG GACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGACATGGGGG GGACCTTGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGG TGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGA CATGGGGGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		250		chr11	TogoVar
OLFM1_chr9_135082668_135126180	135124504	G G	GGGAAGGG others(193): Show GGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAA GAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAGGAAAGAAAG AAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0289 a0001c0001t0004g0289	1	360	0.0028	200	c.43 others(211): Show c.4326_*4327insGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAG GAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAG AAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3325		chr9	TogoVar
OPRL1_chr20_64075082_64105633	64094296	G G	GGGGGGCA others(193): Show GGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGG GGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGCAGTGTGTGGGT CAGTGTGCGGGCAGTGTGTGGGGGGCAGTGTGTGGGTCAGTGTGGGGGCA GTGTGGGGGGCAGTGTGGGGGTCAGTGTGGGGGTCAGTGTGGGGTCAGTG T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	66	0.0152	200	c.233 others(217): Show c.233+1359_233+1360insCAGTGTGTGGGTCAGTGTGCGGGCAGTG TGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGGGGGCAGTGTG TGGGTCAGTGTGCGGGCAGTGTGTGGGGGGCAGTGTGTGGGTCAGTGTGG GGGCAGTGTGGGGGGCAGTGTGGGGGTCAGTGTGGGGGTCAGTGTGGGGT CAGTGTGGGGGCAGTGTGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64094364	T T	TGGGGGCA others(193): Show TGGGGGCAGTGTGTGGGTCAGTGTGCGGGCAGTGTGTGGGGGGCAGTGTG TGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGTCAGTGTGGGG GTCAGTGTGGGGTCAGTGTGGGGGCAGTGTGGGGGTCAGTGTGGGGGCAG TGTGGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGT G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0043 a0001c0001t0016g0043	1	66	0.0152	200	c.233 others(217): Show c.233+1423_233+1424insTGGGTCAGTGTGCGGGCAGTGTGTGGGG GGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGGGGGCAGTGTGGGGGTC AGTGTGGGGGTCAGTGTGGGGTCAGTGTGGGGGCAGTGTGGGGGTCAGTG TGGGGGCAGTGTGGGGGGCAGTGTGTGGGTCAGTGTGGGGGCAGTGTGGG GGGCAGTGTGGGGGGCAGTGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR11H4_chr14_20234286_20249349	20237789	G G	GTACATAT others(193): Show GTACATATAGTATATATAGTATATATAGTATATAGTACATATAGTATATA TAGTATATATAGTATATAGTATATATTTTATAGTATATATAGTATATATA CTATATAGTATATATTATATAGTATATATACTATAAAGTACATAATTTAT ATATTACATATAATACATAATATATATTTATATATTATATTAAATATATA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0004 a0002c0004t0001g0004	1	439	0.0023	200	c.-15 others(211): Show c.-1554_-1553insTACATATAGTATATATAGTATATATAGTATATAG TACATATAGTATATATAGTATATATAGTATATAGTATATATTTTATAGTA TATATAGTATATATACTATATAGTATATATTATATAGTATATATACTATA AAGTACATAATTTATATATTACATATAATACATAATATATATTTATATAT TATATTAAATATATAT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1496		chr14	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(193): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0208 a0001c0001t0026g0208	1	308	0.0033	200	c.226 others(219): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPLN_chr14_73232506_73279623	73263837	C C	CCTGACAG others(193): Show CCTGACAGGTGTGTGTGACAGCTCCCCCACCTCCTCTGATAGGTGTGACA GACCCCCTCCTCCTTTGACAGGTGTGTGTGACAGCCCCCCTACCCCCTCT GACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGAC AGCCCCCCGACCTCCTCTGACAGGTTCACGTGACAGCTCCCTCCACCTCC G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0325 a0002c0001t0003g0325	1	418	0.0024	200	c.286 others(216): Show c.2861+77_2862-153dupTCCCCCACCTCCTCTGATAGGTGTGACAG ACCCCCTCCTCCTTTGACAGGTGTGTGTGACAGCCCCCCTACCCCCTCTG ACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGACA GCCCCCCGACCTCCTCTGACAGGTTCACGTGACAGCTCCCTCCACCTCCG CTGACAGGTGTGTGTGACAGC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPLN_chr14_73232506_73279623	73263837	C C	CCTGACAG others(193): Show CCTGACAGGTGTGTGTGACAGCTCCCCCACCTCCTCTGATAGGTGTGACA GACCCCCTCCTCCTTTGACAGGTGTGTGTGACAGCCCCCCTACCCCCTCT GACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGAC GGCCCCCCGACCTCCTCTGACAGGTTCACGTGACAGCTCCCTCCACCTCC G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0338 a0002c0001t0003g0338	1	418	0.0024	200	c.286 others(217): Show c.2861+204_2861+205insGGCCCCCCGACCTCCTCTGACAGGTTCA CGTGACAGCTCCCTCCACCTCCGCTGACAGGTGTGTGTGACAGCTCCCCC ACCTCCTCTGATAGGTGTGACAGACCCCCTCCTCCTTTGACAGGTGTGTG TGACAGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACC TCCTCTGACAGGTGTGTGTGAC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAACGG others(193): Show CGGAACGGAACGGAACGGAACGGAACGGAACGGAACGGAAAGGAACGGAA AGGAACGGAACGGAACGGAACGGAACGGAACGGAACGGAACGGAAAGGAA CGGAACGGAACGGAAAGGAACGGAAAGGAACGGAAAGGAACGGAAAGGAA CGGAAAGGAACGGAAAGGAACGGAAAGGAACGGAAAGGAACGGAAAGGAA A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0221 a0001c0002t0008g0221	1	274	0.0037	200	c.605 others(217): Show c.605-6360_605-6359insTTTCCTTTCCGTTCCTTTCCGTTCCTTT CCGTTCCTTTCCGTTCCTTTCCGTTCCTTTCCGTTCCTTTCCGTTCCTTT CCGTTCCTTTCCGTTCCGTTCCGTTCCTTTCCGTTCCGTTCCGTTCCGTT CCGTTCCGTTCCGTTCCGTTCCTTTCCGTTCCTTTCCGTTCCGTTCCGTT CCGTTCCGTTCCGTTCCGTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PCBP3_chr21_45638725_45947450	45909791	C C	CCCCCCCC others(193): Show CCCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACC CACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	292	0.0034	200	c.471 others(215): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC GCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(193): Show CCCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCC CCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGG A	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	292	0.0034	200	c.471 others(215): Show c.471+314_471+315insCCACCCACTGCCCAGATACGGACCCCCCCC CACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTG CCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(193): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	200	c.-26 others(211): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PDE10A_chr6_165322289_165668241	165619649	C C	CTAGTGTA others(193): Show CTAGTGTAGTATAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTAGT GTAGTCTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTGTAGTCTAGT GTAGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCTAATGTAGTGTAGT GTACTGTAGTCTAGCGTAGTGTACTGTAGTCTAGTGTACTGTAGTATAGT G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG03041.hp2 others(2): Show HG01243.hp2 HG02109.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0027	a0001c0001t0003 a0001c0002t0005 a0001c0002t0027 others(2): Show a0001c0001t0003 a0001c0002t0005 a0001c0002t0027 a0001c0008t0005 a0002c0027t0037	a0001c0001t0003g0110 a0001c0002t0005g0073 a0001c0002t0027g0084 others(2): Show a0001c0001t0003g0110 a0001c0002t0005g0073 a0001c0002t0027g0084 a0001c0008t0005g0074 a0002c0027t0037g0222	5	222	0.0225	200	c.865 others(219): Show c.865+42297_865+42298insCACTATACTACAGTACACTAGACTAC AGTACACTACGCTAGACTACAGTACACTACACTACATTAGACTACACTAC ACTACACTAGACTACACTAGACTACACTAGACTACACTACACTAGACTAC ACTACACTAGACTACACTAGACTACACTACACTAGACTACACTAGACTAC ACTACACTAGACTATACTACACTA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE3A_chr12_20363537_20693583	20612597	C C	CTTACTTA others(193): Show CTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGT AACTATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTAC TTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTA TATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATATA G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(57): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01257.hp2 HG01516.hp2 HG01943.hp2 HG01981.hp2 HG02040.hp2 HG02071.hp1 HG02148.hp2 HG02155.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp2 HG02698.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18939.hp2 NA18957.hp2 NA18968.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0016 a0002c0002 others(1): Show a0001c0001 a0001c0016 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0041 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0061 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0083 a0001c0001t0085 a0001c0001t0097 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0106 a0001c0016t0096 a0002c0002t0003 a0002c0002t0022 a0002c0002t0024 a0002c0002t0115 a0002c0002t0120 a0002c0002t0126 a0002c0002t0131 a0002c0002t0133 a0002c0002t0139 a0002c0002t0140 a0002c0002t0142 a0002c0004t0123 a0002c0004t0125	a0001c0001t0001g0132 a0001c0001t0002g0033 a0001c0001t0006g0034 others(57): Show a0001c0001t0001g0132 a0001c0001t0002g0033 a0001c0001t0006g0034 a0001c0001t0007g0109 a0001c0001t0009g0043 a0001c0001t0009g0136 a0001c0001t0009g0167 a0001c0001t0011g0159 a0001c0001t0012g0106 a0001c0001t0014g0171 a0001c0001t0014g0172 a0001c0001t0016g0110 a0001c0001t0018g0061 a0001c0001t0019g0073 a0001c0001t0019g0112 a0001c0001t0025g0002 a0001c0001t0025g0003 a0001c0001t0026g0094 a0001c0001t0027g0124 a0001c0001t0028g0012 a0001c0001t0030g0190 a0001c0001t0031g0187 a0001c0001t0036g0007 a0001c0001t0041g0139 a0001c0001t0044g0075 a0001c0001t0045g0194 a0001c0001t0050g0119 a0001c0001t0053g0127 a0001c0001t0054g0177 a0001c0001t0055g0074 a0001c0001t0061g0189 a0001c0001t0067g0016 a0001c0001t0068g0010 a0001c0001t0070g0008 a0001c0001t0071g0196 a0001c0001t0072g0014 a0001c0001t0083g0185 a0001c0001t0085g0068 a0001c0001t0097g0118 a0001c0001t0102g0042 a0001c0001t0103g0050 a0001c0001t0104g0135 a0001c0001t0106g0153 a0001c0016t0096g0070 a0002c0002t0003g0086 a0002c0002t0003g0095 a0002c0002t0003g0117 a0002c0002t0022g0019 a0002c0002t0022g0020 a0002c0002t0024g0078 a0002c0002t0115g0161 a0002c0002t0120g0133 a0002c0002t0126g0107 a0002c0002t0131g0024 a0002c0002t0133g0141 a0002c0002t0139g0009 a0002c0002t0140g0035 a0002c0002t0142g0082 a0002c0004t0123g0144 a0002c0004t0125g0179	60	198	0.3030	200	c.101 others(217): Show c.1012-777_1012-776insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAACTATATATAAGTAATA TAGTTACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAA GTAACTATATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3A_chr12_20363537_20693583	20612651	A A	ATATATAA others(193): Show ATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTACTTAT ATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATA TAAGTAATATAGTTACTTATATAAGTAATATAGTTACTTATATAAGTAAT ATAGTTACTTATATAAGTAATATAGTTACTTATATAAGTAATATAGTTAC T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp1 HG01943.hp1 others(7): Show HG00558.hp1 HG01070.hp1 HG01943.hp1 HG02015.hp1 NA18612.hp2 NA18945.hp2 NA18950.hp1 NA18968.hp2 NA19010.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0001t0016 a0001c0001t0038 others(6): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0038 a0001c0001t0051 a0001c0001t0079 a0001c0001t0088 a0001c0001t0091 a0001c0006t0059 a0002c0002t0003	a0001c0001t0002g0142 a0001c0001t0016g0080 a0001c0001t0038g0030 others(7): Show a0001c0001t0002g0142 a0001c0001t0016g0080 a0001c0001t0038g0030 a0001c0001t0051g0181 a0001c0001t0079g0175 a0001c0001t0088g0156 a0001c0001t0091g0195 a0001c0006t0059g0158 a0002c0002t0003g0096 a0002c0002t0003g0155	10	198	0.0505	200	c.101 others(217): Show c.1012-777_1012-776insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAATATAGTTACTTATATA AGTAATATAGTTACTTATATAAGTAATATAGTTACTTATATAAGTAATAT AGTTACTTATATAAGTAATATA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE6B_chr4_620573_675782	651173	A A	AGCAGTGG others(193): Show AGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC GGCAGTGGGGCCGTCACAGGCGGGGCAGGGGCTGAGGCGGCGATGTCAAC G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	308	0.0033	200	c.712 others(217): Show c.712-2580_712-2579insGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAACGGCAGTGGGGCCGTCACAGGCGGGGCAG GGGCTGAGGCGGCGATGTCAAC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFD_chr11_103902189_104169147	104084787	A A	ATATAAAA others(193): Show ATATAAAATATATATTTTATAAGTATTATAAAATATATATTTTATAAGTA TTATAAAATATATATTTTATAAGTATTATAAAATATATATTTTATAAGTA TTATAAAATATATATTTTATAAGTATTATAAAATATATATTTTATAAGTA TTATAAAATATATATTTTATAAGTATTATAAAATATATATTTTATAAGTA T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG03209.hp1 others(1): Show HG02109.hp2 HG02145.hp2 HG03209.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0014 a0001c0001t0002 a0001c0002t0005 a0001c0002t0014	a0001c0001t0002g0109 a0001c0002t0005g0108 a0001c0002t0005g0188 others(1): Show a0001c0001t0002g0109 a0001c0002t0005g0108 a0001c0002t0005g0188 a0001c0002t0014g0200	4	200	0.0200	200	c.124 others(219): Show c.124+79016_124+79017insATACTTATAAAATATATATTTTATAA TACTTATAAAATATATATTTTATAATACTTATAAAATATATATTTTATAA TACTTATAAAATATATATTTTATAATACTTATAAAATATATATTTTATAA TACTTATAAAATATATATTTTATAATACTTATAAAATATATATTTTATAA TACTTATAAAATATATATTTTATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDXK_chr21_43714129_43767299	43741234	G G	GGGGGGCT others(193): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCG C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0066 a0001c0002t0003g0066	1	358	0.0028	200	c.143 others(215): Show c.143-428_143-427insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar

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