Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEU4_chr2_241804193_241822413	241805963	T T	TCCGCAGG others(356): Show TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCCCTCAGC CCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCTCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CCTCCGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0155 a0001c0004t0001g0155	1	319	0.0031	363	c.-33 others(374): Show c.-3315_-3314insCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCTCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCTCAACCCAGGGACCTCCGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805963	T T	TCTGCAGG others(356): Show TCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAGC CCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0072 a0001c0004t0001g0072	1	319	0.0031	363	c.-33 others(374): Show c.-3315_-3314insCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCAC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3229		chr2	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGT GTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	363	c.26 others(374): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGG CTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp1 others(4): Show HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01261.hp2 HG01934.hp2 HG02004.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	424	0.0165	363	c.26 others(374): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTA GCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	363	c.26 others(374): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01074.hp1 others(9): Show HG00280.hp2 HG00639.hp1 HG01074.hp1 HG01099.hp1 HG01978.hp1 HG02683.hp1 HG03491.hp1 HG03688.hp2 NA18986.hp1 NA19081.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	12	424	0.0283	363	c.26 others(374): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	363	c.26 others(374): Show c.2690_*2691insTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTG TGTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGG TGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGC TAGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGT GTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCT GGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGCACCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(356): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	356	0.0028	363	c.91+ others(376): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGA GTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397708	G G	GGTGAGGG others(356): Show GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	356	0.0028	363	c.91+ others(376): Show c.91+395_91+396insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4			chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(356): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGGGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0188 a0001c0017t0003g0188	1	324	0.0031	363	c.140 others(380): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NR2C2_chr3_14942583_15054273	14955826	T T	TATGTAGT others(356): Show TATGTAGTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	308	0.0033	363	c.-40 others(380): Show c.-40+7936_-40+7937insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCATGTAGTGACTTTTTT	NR2C2	ENSG00000177463.16	transcript	ENST00000425241.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(356): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCG GTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGG GTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01070.hp1 others(28): Show HG00609.hp2 HG00621.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01256.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02132.hp1 HG02257.hp2 HG02683.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 NA18950.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18987.hp1 NA18999.hp2 NA19011.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0007c0027 a0009c0028	a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0014 a0001c0004t0002 a0007c0027t0001 a0009c0028t0001	a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0057 others(28): Show a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0002t0001g0006 a0001c0002t0001g0065 a0001c0002t0001g0071 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0126 a0001c0002t0001g0143 a0001c0002t0014g0001 a0001c0004t0002g0090 a0001c0004t0002g0112 a0001c0004t0002g0160 a0001c0004t0002g0169 a0001c0004t0002g0174 a0001c0004t0002g0177 a0001c0004t0002g0178 a0001c0004t0002g0186 a0001c0004t0002g0194 a0001c0004t0002g0198 a0001c0004t0002g0199 a0007c0027t0001g0150 a0009c0028t0001g0010	31	208	0.1490	363	c.346 others(382): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACC TCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCAC CTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTAC CCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164029	G G	GTGAGAGG others(356): Show GTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTG GGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGT AGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGG TCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACTGGGTGGGGTGGCG GTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGG GTGGGGTGGGGTAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	208	0.0048	363	c.346 others(382): Show c.3466+2891_3466+2892insTTACCCCACCCCACCCGGTATGACCT CTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACC CAGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACC TCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCAC CTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTAC CCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGA CCTCTCATTACCCCACCCCACCCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(356): Show TAAAACTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0151 a0003c0004t0001g0151	1	334	0.0030	363	c.136 others(382): Show c.136+10471_136+10472insTTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGC CCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCA ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(356): Show TAAAACTCCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0150 a0003c0004t0001g0150	1	334	0.0030	363	c.136 others(382): Show c.136+10471_136+10472insTTTTTTTGTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCA ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NSMCE1_chr16_27219994_27273772	27246963	T T	TAAAACTC others(356): Show TAAAACTCCTAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCATCCT GGCTAACACGGTGAAACCCCATCTCTACTAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0149 a0003c0004t0002g0149	1	334	0.0030	363	c.136 others(382): Show c.136+10471_136+10472insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGT GGCGCGATCTCGGCTCACTGCAAGCTCCACCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACG CCCGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCA ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCACGCCCGGCCTAGGAGTTTT	NSMCE1	ENSG00000169189.17	transcript	ENST00000361439.9	protein_coding	2/7			chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(356): Show TCCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCC TCCCCTCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0103 a0001c0002t0019g0103	1	326	0.0031	363	c.433 others(380): Show c.433+1028_433+1029insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGGAGGG AGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCC others(356): Show TCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCCCACCCTCCCCCCCTCCC CTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCC CCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTC CCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCT CCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCC CCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTC TCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0282 a0001c0001t0051g0282	1	326	0.0031	363	c.433 others(380): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAA GGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGG AGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGG GTGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(356): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC CCTCCCCCTTCCCTCCCCCTCCCCCTCCCCCTTCCCCTTCCCTCTCTCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0187 a0001c0001t0030g0187	1	326	0.0031	363	c.433 others(380): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGAGAGAGGGAAG GGGAAGGGGGAGGGGGAGGGGGAGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664507	T T	TCCTCTCC others(356): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCC TTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0073	1	326	0.0031	363	c.433 others(380): Show c.433+1013_433+1014insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AAGGGGGAGGGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGAGGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(356): Show ATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAA AATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATAAAATA TATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0112 a0001c0002t0010g0112	1	378	0.0027	363	c.489 others(380): Show c.489+2834_489+2835insATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATA TAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATA AAATATATAGTTATATAACTATATAAAATATATAGTTATGTAACTATAAA ATATATAGTTATGTAACTATAAAATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(356): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTATTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCACCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0103 a0001c0001t0003g0103	1	438	0.0023	363	c.-29 others(378): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGTGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATA ATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(356): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTATTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02071.hp2 HG02148.hp1 HG01978.hp1 HG02071.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0001g0180 a0001c0001t0002g0235 a0001c0001t0001g0148 a0001c0001t0001g0180 a0001c0001t0002g0235	3	438	0.0069	363	c.-29 others(378): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATA ATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(356): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	438	0.0046	363	c.-29 others(378): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(356): Show ACTGAATGTACATTATTATTATTATTATTATTATTATTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	438	0.0023	363	c.-29 others(378): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA ATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(356): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CTGCTTCCCGGGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	438	0.0023	363	c.-29 others(378): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAATAATAATAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
P2RY14_chr3_151207117_151283542	151267579	T T	TTAAAACA others(356): Show TTAAAACATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCG TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	404	0.0025	363	c.-13 others(384): Show c.-133+10707_-133+10708insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGTTTTA	P2RY14	ENSG00000174944.9	transcript	ENST00000309170.8	protein_coding	1/2			chr3	TogoVar
PAK2_chr3_196734857_196837647	196811213	T T	TTCCTTCC others(356): Show TTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCC TTCCCTCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0178 a0001c0001t0014g0178	1	178	0.0056	363	c.773 others(378): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTC CTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCT CCCCTCCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARG_chr10_49813279_49947027	49887425	T T	TAAAGATC others(356): Show TAAAGATCTCATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	292	0.0034	363	c.173 others(382): Show c.1738-2131_1738-2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCATGAGATCTTT	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARK7_chr1_7956711_7990505	7990498	T T	TCACCACC others(356): Show TCACCACCACCACCACCATCACCACCAGCATCACCTTCACCATCACCCTC ACCACCACCATCACCACTACCAACACCATCACCCTCACCACTACCATCAT CACCATCACCACCACCATCACCATCACCCTCACCACCACCATCACCACAC TCACCACCACCATCACCATCACCACCAGCATCACCCTCACCACCACCATC ACCATCACCACCACCATCACCTTCACCACCACCACCATCACCACCAGCAT CACCCTCACCATCACCCTCACCACCACCATCACCACACTCACCACCACCA TCACCATCACCACCAGCATCACCCTCACCACCACCATCACCATCACCACC ACCATCACCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	370	0.0027	363	c.54 others(374): Show c.5444_*5445insCACCACCACCACCACCATCACCACCAGCATCACC TTCACCATCACCCTCACCACCACCATCACCACTACCAACACCATCACCCT CACCACTACCATCATCACCATCACCACCACCATCACCATCACCCTCACCA CCACCATCACCACACTCACCACCACCATCACCATCACCACCAGCATCACC CTCACCACCACCATCACCATCACCACCACCATCACCTTCACCACCACCAC CATCACCACCAGCATCACCCTCACCATCACCCTCACCACCACCATCACCA CACTCACCACCACCATCACCATCACCACCAGCATCACCCTCACCACCACC ATCACCATCACCACCACCATCACCTTCAC	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding		4994		chr1	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(356): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTC AGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGTGTCAGT CCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	292	0.0034	363	c.-16 others(382): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCA CACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGG TGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGT TGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45927331	T T	TCCCTCCC others(356): Show TCCCTCCCCTCCTGCCCTCCTCTCCTTCACTCTGCCTCCTCCCTCCCCTC CTCTCCTCTCCCTCCCTCTCCCCCTCCTCCCTCCTCTCTCCTCTCCCTCC CTCCCTCTCCCCCTACTTCCTCCCCTCCTGCCCTCCTCTCCCTCCCCTCC TGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCCC CTCCTGCCTTCCTCTTCCCTCCCTCTCCCTCCCTCTCCCCCTCCTCCCTC CTCTCCTCTCTCCCCTCCCTCCCTCTCCCCCCTCCTCCTCCTCTCCTCTC CCCTCCCTCACTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCA CTCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	292	0.0034	363	c.718 others(380): Show c.718-2584_718-2583insCTCCCCTCCTGCCCTCCTCTCCTTCACT CTGCCTCCTCCCTCCCCTCCTCTCCTCTCCCTCCCTCTCCCCCTCCTCCC TCCTCTCTCCTCTCCCTCCCTCCCTCTCCCCCTACTTCCTCCCCTCCTGC CCTCCTCTCCCTCCCCTCCTGTCCCTCCCTCCCCTCCTGTCCCTCCCTCC CCTCCTGTCCCTCCCTCCCCTCCTGCCTTCCTCTTCCCTCCCTCTCCCTC CCTCTCCCCCTCCTCCCTCCTCTCCTCTCTCCCCTCCCTCCCTCTCCCCC CTCCTCCTCCTCTCCTCTCCCCTCCCTCACTCTCCCCCTCCTCCCTCCTC TCCTCTCTCCCCTCCCTCACTCTCCCCCTCCTCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	758666	A A	AGTTCTTT others(356): Show AGTTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTCTCGCTCCGGAC TCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCG GACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTCCTTCCG GACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTT CCGGACTCTGGGTCTTTCTCCCCACGCGGCCCCTCTCCCGAGTTCTCCCT CCAGACTCCGGGTCTTTCCCCGCACGGCCCCTCCCCCGAGTTCTTCTCCA TCCCGACTCCAGTTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTGTTCT CCTTCCGGACTCCG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0047 a0002c0002t0048g0047	1	366	0.0027	363	c.463 others(380): Show c.463-2612_463-2611insTTCTTTCTCCCCGCGCGGCCCCTCTCCC GAGCTCTTCTCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCT CCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCC TCTCCCGAGTTCTTCTCCTTCCGGACTCTGGGTCTTTCTCCCCACGCGGC CCCTCTCCCGAGTTCTCCCTCCAGACTCCGGGTCTTTCCCCGCACGGCCC CTCCCCCGAGTTCTTCTCCATCCCGACTCCAGTTCTTTCTCCCCGCGCGG CCCCTCTCCCGAGTTGTTCTCCTTCCGGACTCCGG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	318060	T T	TCACCCTG others(356): Show TCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCA CCCCTGCACCTCCCCCCTCCACTCCCCCTCAACCTCCCCCCCACTTTCCA CCTCCCCCCTCCACCCCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCC CCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCTCTCGCCTGCACCTCCTCCCTCCCT CTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCA CCTTCCACCTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	360	0.0028	363	c.35 others(374): Show c.3545_*3546insCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCC TCCCTCTCCCCCTCACCCCTGCACCTCCCCCCTCCACTCCCCCTCAACCT CCCCCCCACTTTCCACCTCCCCCCTCCACCCCTCCCCCCTCACCTCCTCC CCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCC TCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCAC CTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCTCTCGCCTGC ACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCC CCTCACCTCCCCCCACCTTCCACCTCCCC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3087		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741309	G G	GGCTCGCG others(356): Show GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTG GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCG GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGG GGGCTGGCGGGGGC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0263 a0001c0001t0012g0263	1	358	0.0028	363	c.143 others(378): Show c.143-358_143-357insGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCG CGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGG GGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGT ATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGT GTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp1 HG01934.hp2 others(2): Show HG01070.hp1 HG01123.hp1 HG01934.hp2 HG02004.hp1 HG02273.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0002g0004 a0001c0002t0002g0036	5	408	0.0123	363	c.-10 others(380): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTG GTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTC TGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0297 a0001c0002t0002g0297	1	408	0.0025	363	c.-10 others(380): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00741.hp2 others(10): Show HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01978.hp1 HG02683.hp1 HG03491.hp1 HG03688.hp1 NA18986.hp1 NA19081.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0298 others(5): Show a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304	13	408	0.0319	363	c.-10 others(380): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTGGCTAG others(356): Show CTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGT CTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGT GTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGT GTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGT GTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGCACCG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0307 a0001c0002t0002g0307	1	408	0.0025	363	c.-10 others(380): Show c.-10+1024_-10+1025insTGTGTGTGTGTCTGGCTAGCCTGTGTGT GTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTCTGGCTAGCCTGGCACCGTGGCTAGCCTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PINX1_chr8_10759961_10844875	10834995	T T	TAAGATTA others(356): Show TAAGATTAAAACTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0178 a0001c0006t0001g0178	1	352	0.0028	363	c.20- others(376): Show c.20-221_20-220insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAG CTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCACAGTTTTAATCTT	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	1/6			chr8	TogoVar
PITPNM3_chr17_6446263_6561555	6561364	C C	CCCCCTTC others(356): Show CCCCCTTCCTCCTCCTCCTCTTCCTCCTCCTTCTCCTCTTCCTCCTCCTA GTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTCATTATC CTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCTCCTCCT TTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCCTCATCCTCCTTCCCTCCT CTTCCTCCTTTTCCTCCTTCTCCTCCCCTCTTCCTCCTCTTCCTCCTCCT CCTCCCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0121 a0001c0001t0082g0121	1	218	0.0046	363	c.-49 others(374): Show c.-4959_-4958insAGGAGGAGGGGAGGAGGAGGAGGAAGAGGAGGAA GAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAAGGAGGATGAGG AGAAGGAGGAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAG GAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAG GAGGAGGAAAAGGAGAAGAAGGAGGAGAAAAGGAGGAGGAGGAGAAGGAA GAGGAGGAGAAGGGAGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGA GGAAGAGGAGGAGGGGAGGAGGAGGAGGACTAGGAGGAGGAAGAGGAGAA GGAGGAGGAAGAGGAGGAGGAGGAAGGGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4810		chr17	TogoVar
PKP3_chr11_389209_409908	401414	G G	GCCCCCGC others(356): Show GCCCCCGCTCACACCCCGGCCCCCGCTCACACCCGCCCCCGCTCACACCC CGGCGCCCCGCTCACACCCGCCCCCCGCTCACCCCCGGCCCCCGCTCACA CCCGGCGCCCCGCTCACACCCCGCCCCGCTCACACCCGCCCCGCTCACCC CCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGG CCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCCGCTCACCCCCCGGCCCCCGCTCACACCCGCCCCC GCTCACCCCCGGCCCCGCTCACACACCCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCCGGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	363	c.173 others(380): Show c.1737+713_1737+714insCGCTCACACCCCGGCCCCCGCTCACACC CGCCCCCGCTCACACCCCGGCGCCCCGCTCACACCCGCCCCCCGCTCACC CCCGGCCCCCGCTCACACCCGGCGCCCCGCTCACACCCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCG GCCCCGCTCACCCCCGGCCCCCGCTCACACCCGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCCGCTCACCCCCCGGCCCC CGCTCACACCCGCCCCCGCTCACCCCCGGCCCCGCTCACACACCCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCCGGCCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	280422	A A	ACGTGCAG others(356): Show ACGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGG GGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGGG GCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGGGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGG TACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAG GGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGA AGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAG GGGGCAGCGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG03486.hp1 HG02615.hp2 HG02723.hp1 HG03486.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0008 a0001c0001 a0001c0003 a0008c0008	a0001c0001t0034 a0001c0003t0051 a0008c0008t0077 a0001c0001t0034 a0001c0003t0051 a0008c0008t0077	a0001c0001t0034g0069 a0001c0003t0051g0071 a0008c0008t0077g0072 a0001c0001t0034g0069 a0001c0003t0051g0071 a0008c0008t0077g0072	3	176	0.0171	363	c.-12 others(374): Show c.-1284_-1283insCGTGCAGGCGGAGCGGGGGCCGTGCAGGCGGAGG GGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGT GCAGGGGGAAGGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAA GGGGGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGT GCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGA GGGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCCG TGCAGGCAGAGGGGAAGACGTGCAGGGGGAGGGGAGGCCGTGCAGGAGGA GGGGAGGCCGTGCAGGGGGCAGCGGAGGC	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		958		chrX	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(356): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCA CCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	294	0.0034	363	c.550 others(380): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC AAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55433460	T T	TTCAGTAA others(356): Show TTCAGTAAAGTTTTTTGTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CGGGACTGAGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCA CCGCGCCCGGCCAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0141 a0001c0004t0001g0141	1	294	0.0034	363	c.550 others(380): Show c.550-7422_550-7421insGTGGCCGGGCGCGGTGGCTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCTCAGTCCCGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAA AAAAAAAAACAAAAAAAAACAAAAAACTTTACTGA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	4/5			chr5	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(356): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGAGGGGAGGGGAGGAAGGGGGGGGACGGCAGCGGCGGGCAGGGGAGC AGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAG GGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAG GGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	354	0.0028	363	c.-27 others(372): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCT CCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCC CCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTC CCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGC TCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(356): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGG GAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGG GGGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGAGC AGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAG GGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAG GGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	354	0.0028	363	c.-27 others(372): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCCCTTCCTCCCCTCCCCTCCCCCCCCTCCTCCCCTCCCCCTCCCT CCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCC CCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTC CCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGC TCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(356): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGG GGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGG GGGGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGCGGCGGGCAGGGGAGC AGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAG GGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAG GGAGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	354	0.0028	363	c.-27 others(372): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCCCTTCCTCCCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CCTCCCTCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTC CCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGC TCCCCTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PRKAG2_chr7_151551127_151882115	151855004	A A	ACACACAC others(356): Show ACACACACCATCCTCCACACACACCATGCTCCACACACCACCCTCCACAC ACCACCATCCACACACACCACGCTCCACACACACCGCCCTCCACACACAC CATCCTCCACACACACCATCCTCCACACACACCACCCTCCACACACACCG CCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACACCATC CTCCACACACACCACCCTCCACACACACCACCCTCCACACACACCATGCT CCACACACCACCCTCCACACACCACCCTCTACCACCCTCCACACACCACC ATCCACACACACCACGCTCCACACACACCGCCCTCCACACACACCATCCT CCACACACACCATC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0207 a0004c0008t0002g0207	1	252	0.0040	363	c.114 others(382): Show c.114+21502_114+21503insGATGGTGTGTGTGGAGGATGGTGTGT GTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGG AGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGT GGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGG AGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGTGTGTGGAG GGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGTGGAGGGTG GTGTGTGGAGCATGGTGTGTGTGGAGGATGGTGTGTG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRSS33_chr16_2778953_2792560	2787319	C C	CCCCTCCT others(356): Show CCCCTCCTCCATCCTTCACCCCCCCATCGTCACCCCCTCCCTCATCCTCA CCCCCTTCCTCCTCACTCCCCTCCCTCATCCTCACCCCCTCCCCCATCCT TCACCCCTCCTCGTCCTCACCCTCATCCTCACCCCCTCCTCTATCCTCAC CCCCTCCTCCATCCTCAGCCCCCTCCTCCTCACTCCCCTCCCTCATCCTC ACCCCTGTCTCATCCTCACCCCCTCCCCCATCCTTCACCCCCTCCCTCAT CCTTCACCCCCTCCCCCATCCTTCACCCCCTCCCCCATCCTTCACCCCCT CCCTCATCCTTCACCCCCTCCCTCATCCTTCACCCCCTCCCTCATCCTCA CTCCTCTCTCATCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	386	0.0026	363	c.-58 others(378): Show c.-58+213_-58+214insTGATGAGAGAGGAGTGAGGATGAGGGAGGG GGTGAAGGATGAGGGAGGGGGTGAAGGATGAGGGAGGGGGTGAAGGATGG GGGAGGGGGTGAAGGATGGGGGAGGGGGTGAAGGATGAGGGAGGGGGTGA AGGATGGGGGAGGGGGTGAGGATGAGACAGGGGTGAGGATGAGGGAGGGG AGTGAGGAGGAGGGGGCTGAGGATGGAGGAGGGGGTGAGGATAGAGGAGG GGGTGAGGATGAGGGTGAGGACGAGGAGGGGTGAAGGATGGGGGAGGGGG TGAGGATGAGGGAGGGGAGTGAGGAGGAAGGGGGTGAGGATGAGGGAGGG GGTGACGATGGGGGGGTGAAGGATGGAGGAGGG	PRSS33	ENSG00000103355.14	transcript	ENST00000682474.1	protein_coding	1/6			chr16	TogoVar

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