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
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(564): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCAC CTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCC CTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCC TTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCC TCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCT CTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCT CTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCAT CCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCC TCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCT CCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CTTCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02280.hp1 others(12): Show HG01243.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02723.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0016 others(5): Show a0001c0001 a0001c0002 a0001c0016 a0001c0021 a0001c0025 a0002c0003 a0002c0007 a0002c0030	a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 others(11): Show a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0077 a0001c0002t0084 a0001c0016t0020 a0001c0021t0049 a0001c0025t0044 a0002c0003t0004 a0002c0003t0029 a0002c0003t0059 a0002c0007t0002 a0002c0030t0047	a0001c0001t0011g0022 a0001c0001t0019g0101 a0001c0001t0020g0105 others(12): Show a0001c0001t0011g0022 a0001c0001t0019g0101 a0001c0001t0020g0105 a0001c0001t0023g0072 a0001c0001t0077g0036 a0001c0002t0084g0138 a0001c0016t0020g0108 a0001c0021t0049g0023 a0001c0025t0044g0109 a0002c0003t0004g0048 a0002c0003t0004g0127 a0002c0003t0029g0106 a0002c0003t0059g0037 a0002c0007t0002g0045 a0002c0030t0047g0206	15	210	0.0714	571	c.439 others(590): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC CTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CTCCTCTC others(564): Show CTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCT CCCCCTCCCTCTCTCCCCCTCCTCTCTCCCCCTCTCCCTCTCTCCCCCAC CTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCCTGTCTCCTC ATCCCTCTCTCCCCTCCCTCTTTCCCCCTCCCCCTCCTTCTCTCTCCCTT CCCGCTCTCCCCTCCCTCTCTGTCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTC TCCCCCTTTCCCCTCCCTCTCATCCCCCTCTCTCTCTTCTGCTCCTTCTC TCTCCTCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCCTCCCTCTCTCA TCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCC CTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCTCCCTCTCCT CCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CTTCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	210	0.0048	571	c.439 others(590): Show c.439-33620_439-33619insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTCTCT CCCCCTCTCCCTCTCTCCCCCACCTCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCCTGTCTCCTCATCCCTCTCTCCCCTCCCTCTTTCCCC CTCCCCCTCCTTCTCTCTCCCTTCCCGCTCTCCCCTCCCTCTCTGTCCCC TCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCC CTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCCTCCCTCTCATCCCC CTCTCTCTCTTCTGCTCCTTCTCTCTCCTCCCTTCCTCTCTCCCCTCCCT CTCTGTCCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTC TTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCC CTCCCTCTCTCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCT CTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16			chr1	TogoVar
RECQL4_chr8_144506288_144522833	144513791	C C	CGTGGGGA others(564): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	412	0.0024	571	c.205 others(586): Show c.2059-80_2059-79insCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCT CACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCCTCC TCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGC CGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCA CCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCC TCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGC CGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCA CCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCC TCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RGPD3_chr2_106398406_106473413	106467281	A A	AGAGCTCG others(564): Show AGAGCTCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCCGGGCCGGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCAGAGCCATCGAGGCCGCCGCAGGGCCAG GTCGAGGCTGCCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAA CAGAGCGCGCCAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCA TCGAGGCCGCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGC CAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCCAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCA GGTCGAGGCCGCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0182 a0003c0003t0006g0182	1	382	0.0026	571	c.72+ others(584): Show c.72+935_72+936insGGTTGAGGCGGCGGCCTCGACCTGGCCCGGCG GCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTG GCGCGCTCTGTTGAGGCGCCGGCCTGGACCTGGCCCTGCGGCGGCCTCGA TGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGGC GTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCGGC GGCGGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCTGC GGCGGCCTCGATGGCTCTGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTTGAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTCGATGGCTCAGG CGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGAGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467458	A A	CACAGAGC others(564): Show CACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGC CATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTGCCGCCGCCTGGCCAGGT CGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGCCAGGTAACAGCGCCGGT CGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAG GCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCAT GACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCCGGCGCCT CAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAG CCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCCGCCGCCTCAACCGAGCG CGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGC CGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAG CAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGG CCAGGTCGAGGCCGCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0003 a0006c0027t0003	a0006c0027t0003g0147 a0006c0027t0003g0147	1	382	0.0026	571	c.72+ others(584): Show c.72+759_72+760insGAGGCGGCGGCCTCGACCTGGCCCTGCGGCGG CCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGC GCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGC TCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCGGTTGA GGCGGCGGCCTCGACCTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCA TGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGCC TCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGA CGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGC CCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTGT TACCTGGCGCGCTCTGTTGAGGCGGCGGCGGCGGCCTCGACCTGGCCAGG CGGCGGCAGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTC ATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTG	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RIPK4_chr21_41734373_41772052	41736026	C C	CTTCTTCT others(564): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTT CCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	448	0.0022	571	c.48 others(582): Show c.4811_*4812insAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGGAAGAAGAAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3346		chr21	TogoVar
RNF213_chr17_80255852_80403794	80274589	G G	GGGGGTGA others(564): Show GGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGT GTGGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGG TGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGG TGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGAGTGGGGTGAGT GTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0081 a0081	a0081c0083 a0081c0083	a0081c0083t0027 a0081c0083t0027	a0081c0083t0027g0116 a0081c0083t0027g0116	1	292	0.0034	571	c.261 others(588): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGGTGAGTGG GGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATG GGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGT GAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGG TGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTG GGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGGGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(564): Show CCCACCATCACACTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACC TCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	244	0.0041	571	c.193 others(590): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGAT GGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGTGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(564): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCAACACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCACCACC TCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG03098.hp1 others(1): Show HG01884.hp1 HG02055.hp2 HG03098.hp1 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0018 others(1): Show a0001c0007 a0001c0009 a0001c0018 a0001c0029	a0001c0007t0006 a0001c0009t0019 a0001c0018t0019 others(1): Show a0001c0007t0006 a0001c0009t0019 a0001c0018t0019 a0001c0029t0018	a0001c0007t0006g0221 a0001c0009t0019g0156 a0001c0018t0019g0052 others(1): Show a0001c0007t0006g0221 a0001c0009t0019g0156 a0001c0018t0019g0052 a0001c0029t0018g0004	4	244	0.0164	571	c.193 others(590): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG GTGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGAT GGTGAGGATGATGGTGGAGGTGGTGTTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(564): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACC TCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(95): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01952.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18906.hp2 NA18941.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18974.hp1 NA18974.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19077.hp1 NA19077.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(20): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0014 a0001c0020 a0001c0023 a0001c0024 a0001c0025 a0001c0028 a0001c0033 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0048 a0001c0052 a0001c0054 a0001c0057 a0001c0063	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0005t0003 a0001c0005t0012 a0001c0005t0028 a0001c0007t0001 a0001c0007t0003 a0001c0007t0006 a0001c0007t0011 a0001c0007t0033 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0011t0012 a0001c0011t0039 a0001c0014t0001 a0001c0014t0003 a0001c0014t0038 a0001c0020t0001 a0001c0023t0003 a0001c0024t0001 a0001c0025t0001 a0001c0028t0001 a0001c0033t0032 a0001c0038t0018 a0001c0039t0003 a0001c0040t0001 a0001c0041t0004 a0001c0048t0002 a0001c0052t0004 a0001c0054t0001 a0001c0057t0016 a0001c0063t0016	a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0085 others(95): Show a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0002g0076 a0001c0001t0002g0184 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0104 a0001c0001t0003g0112 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0214 a0001c0001t0003g0217 a0001c0001t0003g0227 a0001c0001t0003g0243 a0001c0001t0011g0007 a0001c0001t0011g0015 a0001c0001t0011g0017 a0001c0001t0012g0013 a0001c0001t0026g0018 a0001c0001t0029g0241 a0001c0001t0035g0066 a0001c0003t0001g0025 a0001c0003t0001g0030 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0058 a0001c0003t0001g0063 a0001c0003t0003g0023 a0001c0003t0003g0028 a0001c0003t0003g0031 a0001c0003t0003g0037 a0001c0005t0001g0101 a0001c0005t0001g0121 a0001c0005t0001g0142 a0001c0005t0001g0170 a0001c0005t0003g0074 a0001c0005t0003g0084 a0001c0005t0003g0132 a0001c0005t0012g0014 a0001c0005t0028g0180 a0001c0007t0001g0157 a0001c0007t0001g0193 a0001c0007t0003g0083 a0001c0007t0006g0192 a0001c0007t0011g0011 a0001c0007t0033g0210 a0001c0008t0001g0171 a0001c0008t0001g0181 a0001c0008t0001g0185 a0001c0008t0001g0226 a0001c0008t0001g0232 a0001c0008t0002g0114 a0001c0009t0001g0152 a0001c0009t0001g0161 a0001c0011t0001g0127 a0001c0011t0001g0229 a0001c0011t0003g0199 a0001c0011t0003g0208 a0001c0011t0012g0012 a0001c0011t0039g0215 a0001c0014t0001g0106 a0001c0014t0003g0213 a0001c0014t0038g0069 a0001c0020t0001g0077 a0001c0020t0001g0176 a0001c0020t0001g0239 a0001c0023t0003g0022 a0001c0024t0001g0029 a0001c0024t0001g0040 a0001c0025t0001g0146 a0001c0025t0001g0225 a0001c0028t0001g0046 a0001c0033t0032g0055 a0001c0038t0018g0002 a0001c0039t0003g0059 a0001c0040t0001g0024 a0001c0041t0004g0056 a0001c0048t0002g0098 a0001c0052t0004g0148 a0001c0054t0001g0228 a0001c0057t0016g0230 a0001c0063t0016g0234	98	244	0.4016	571	c.193 others(590): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGAT GGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(564): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT TCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACC TCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02896.hp2 HG02897.hp2 HG02257.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0019 a0001c0006 a0001c0019	a0001c0006t0037 a0001c0019t0021 a0001c0006t0037 a0001c0019t0021	a0001c0006t0037g0122 a0001c0019t0021g0072 a0001c0019t0021g0238 a0001c0006t0037g0122 a0001c0019t0021g0072 a0001c0019t0021g0238	3	244	0.0123	571	c.193 others(590): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGAAGAT GGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416146	A A	ACCATCAT others(564): Show ACCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCC ATCACCTCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCAT CACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCAT CTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATCACCCTCG CCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCA CCACCTCCACCATCATCCTCACCATCTCCACCATCACCCTCACCATCCTT CCTCCATCACCTCCACCATCCACCCTCACCATCCTTCATCACCCCCACCA TCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATC CTTTCTCCATCACCTCCACCATCACCCTCGCCATCATCTTCACCACCACC TCCACCATCACCCTCGCCATCCTTTCTCCATCACTTCCACCATCACCCTC ACCATCATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCC ATCACTTCCACCATCACCCTCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0198 a0001c0001t0036g0198	1	244	0.0041	571	c.193 others(590): Show c.1938+2078_1938+2079insCGAGGGTGATGGTGGAAGTGATGGAG AAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGG GTGATGGTGGAAGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTG GTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATG GCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGT GGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGG ATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGT GAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAG GGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGA TGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGG TGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGAGGTGATGGAG AAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416181	C C	CGCCATCC others(564): Show CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACC TCCACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACTTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0100 a0001c0014t0001g0111 a0001c0014t0001g0100 a0001c0014t0001g0111	2	244	0.0082	571	c.193 others(590): Show c.1938+2043_1938+2044insAAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGAT GGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGG TGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGA AGATGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGC	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(564): Show GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTG AGGGGGTGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT CGGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGG GGGTGGGGTGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGTTGGGTGAGGGGGGTGGGGTGTTGG GTGAGGGGTTGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0145 a0003c0004t0003g0145	1	290	0.0035	571	c.464 others(584): Show c.464+91_464+92insTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGTGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTCGGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGT GGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGG GTGAGGGGGGTGGGGTGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGT GAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGTTGGGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGAGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(564): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGT TGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGGTT GAGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	290	0.0035	571	c.464 others(584): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGGTTGAGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCGGG GGGGGTTGAGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGG GTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGAGTGAGGGGGTTGGGGTGTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH3TC1_chr4_8194290_8246103	8211427	C C	CTCTCCCT others(564): Show CTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTTCTCCCTCCCT CTCCCCCTCCTGGTTTCTCCCCTCTACCTCCCTCTCCCCCCACCTGTTTT CTCCCTTCTCCCTCCCTCCTTCCTCCCCTTTTCTCCCCACTCCCTCCCTC TCCCCCTTCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCACCGTCCTGTTT TCTCCCCCTCCCTCCTTCTCCCCCTCCCGTTTTCTCCCTCCTCCCTCCTT CTCCCCCTCCCGGTGTCTCCCCTCTCCCCCTCCTGGTTTCTCCCCTCTTC CTTCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCT GGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCCTT CTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCC TCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTC TCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCACCC GCCCCCGCACCGTTTTCTCCCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	374	0.0027	571	c.248 others(588): Show c.248-1255_248-1254insTCCTCACCGTTGTCTCCCTTCTCCCTCC CTCTCCCCCTCCTGGTTTCTCCCCTCTACCTCCCTCTCCCCCCACCTGTT TTCTCCCTTCTCCCTCCCTCCTTCCTCCCCTTTTCTCCCCACTCCCTCCC TCTCCCCCTTCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCACCGTCCTGT TTTCTCCCCCTCCCTCCTTCTCCCCCTCCCGTTTTCTCCCTCCTCCCTCC TTCTCCCCCTCCCGGTGTCTCCCCTCTCCCCCTCCTGGTTTCTCCCCTCT TCCTTCCTCTCCCCCTCCCAGTTTCTCCCCTCTCCCTCCCTCTCCCCCTC CTGGTTTCTCCCCTCTCCCTCCCTCTCCACCCTCCTCACCGTTGTCTCCC TTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCC CCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCC TCTCCCTCCCTCTCCCCCTCCTGGTTTCTCCCCTCTCCCTCCCTCTCCAC CCGCCCCCGCACCGTTTTCTCCCTTCTCCCTCCCTCTCCACCC	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGGA others(564): Show GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA TGATGGGGAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0038 a0002c0001t0038	a0002c0001t0038g0005 a0002c0001t0038g0005	1	316	0.0032	571	c.257 others(590): Show c.2578-6789_2578-6788insTCACCCTGACCCCTCCCCATCATCTT GACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACACTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC CTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTC CCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTG ACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGGA others(564): Show GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGG GTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGG GGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCA GGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGG GAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGG TGATGGGGAGGGGTCAAGATGA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19009.hp2 NA19089.hp1 NA18986.hp1 NA19009.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0040 a0001c0002 a0001c0040	a0001c0002t0002 a0001c0002t0053 a0001c0040t0005 a0001c0002t0002 a0001c0002t0053 a0001c0040t0005	a0001c0002t0002g0218 a0001c0002t0053g0030 a0001c0040t0005g0206 a0001c0002t0002g0218 a0001c0002t0053g0030 a0001c0040t0005g0206	3	316	0.0095	571	c.257 others(590): Show c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCC CATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTG ACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(564): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAG GGCAGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGC ACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAG GCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCTGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0224	1	373	0.0027	571	c.115 others(588): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCAGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTC CGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCTGCCCTGCCC CTCCCGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG ACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414453	G G	GCAGGGCG others(564): Show GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGA AGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTG GGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAG GGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG GAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCGCTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCA CTGGGTGGGGGGCCTGGAGGGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0100 a0001c0001t0006g0100	1	373	0.0027	571	c.115 others(588): Show c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTT CTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTG CCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCC CCCCACCCAGCGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCA GTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414462	G G	GGAAGGCA others(564): Show GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTG GAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGC CGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAG GGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGC ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGC AGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCGGGAGGGGCAGGGCGGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0175 a0001c0001t0006g0175	1	373	0.0027	571	c.115 others(588): Show c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCT CCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNX6_chr14_34556093_34635148	34557496	A A	ATTCTTTC others(564): Show ATTCTTTCTTCTGTCTTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTCTTTCTTCTTCTTCTTCTCTTCTTCTTC TTCTTCTCTTCTTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTCTTCTTCTTCTCTTCTTCTTCTTC TTCTTCTTCTTCTTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTTCTTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0292 a0001c0001t0009g0292	1	322	0.0031	571	c.56 others(582): Show c.5625_*5626insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAA GAGAAGAAGAAGAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAGA AGAAGAAGAAGAAAGAAGAAGAAGAAAGAAGAGAAGAAGAAGAAGAAGAG AAGAAGAAGAAGAAAGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAAGAAGAAAGACAGAAGAAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGTGGTGG others(564): Show TGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA20129.hp1 HG02559.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0116 a0001c0001t0007g0114 a0001c0001t0007g0116	2	422	0.0047	571	c.64 others(582): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(564): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGG AAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	322	0.0031	571	c.597 others(588): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTC CCTCCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCC TCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473275	G G	GAGAGGAA others(564): Show GAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGAG GGAGGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGAGGGAGGAAA GGAAGGAGGAGGGGGGGAGGAAAGGAAGGAGGAGGGAGGGAGGAAAGGAA GGAGGGAGGGAGGAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGTGAGGGAGGGAGG AAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGAAGGGAGGGAGGGGGGGAGG AAAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0215 a0001c0001t0018g0215	1	322	0.0031	571	c.597 others(588): Show c.597+1545_597+1546insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCCTCCCTCCCTTCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTTCCTCCC TCCCTCACTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCTCCTTCCTTTCCTCCCCCCCTCCTCCTTCCTTTCCT CCCTCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCCCT CCCTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCC CTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(564): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	364	0.0028	571	c.157 others(590): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCGTT CTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCC GTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCACCCCGT TCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGC TCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACC CCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(564): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGA GAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGA GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGCGG GGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0167 a0001c0001t0003g0350 a0001c0001t0001g0167 a0001c0001t0003g0350	2	364	0.0055	571	c.157 others(590): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCG TTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTT CTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCC GTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCACCCCGT TCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGC TCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACC CCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(564): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGA GAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGA GAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGA GCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGG GGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	364	0.0028	571	c.157 others(590): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCC CGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCG TTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTT CTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCC GTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCACCCCGT TCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGC TCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACC CCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGTG others(564): Show ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGG AAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAAC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAG CTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGG GCGGGAAGGGGACAGCAGAGCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0087 a0002c0001t0014g0087	1	352	0.0028	571	c.299 others(588): Show c.299-1274_299-1273insAGCTCTGCTGTCCCCTTCCCGCCCCACC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTTCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGC TGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTG CTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGC CCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCCATGAGCTCTGCTGTCCCCTTCCCACCTCACCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(564): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATACATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	224	0.0045	571	c.102 others(590): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATGTATAATATATATAATGTATATATAATGTATAATATATATAATGT ATATATAATGTATATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(564): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0022 a0002c0005t0001g0022	1	224	0.0045	571	c.102 others(590): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATATATAATATATATAATGTATATATAATGTATAATATATATAATGT ATATATAATGTATATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(564): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGA GGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAG GCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCC AGGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	466	0.0022	571	c.49 others(582): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCCCTGAC CCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTG GCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTTCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACC CCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCC TAACCCCGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATC CCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(564): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGT ATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATAG TATATTATATTATATAGTATAGTATATTATATTATATAGTATAGTATATT ATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATAT AGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTA TATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATATT ATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTAT ATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAA TATAGTATATTATATTATATAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	118	0.0085	571	c.44- others(588): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATAATATACTATATTATATACTAT ATAATATAATATACTATATTATATACTATATAATATAATATACTATATTA TATACTATATAATATAATATACTATATTATATACTATATAATATAATATA CTATACTATATAATATAATATACTATACTATATAATATAATATACTATAC TATATAATATAATATACTATATTATATACTATATAATATAATATACTATA TTATATACTATATAATATAATATACTATATTATATACTATATAATATAAT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(564): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATATATATAC ATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02738.hp1 HG03491.hp2 others(4): Show HG00323.hp2 HG02738.hp1 HG03491.hp2 HG03492.hp2 HG04228.hp1 NA18990.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0001 a0001c0001t0002 a0001c0001t0018	a0001c0001t0001g0124 a0001c0001t0001g0165 a0001c0001t0002g0030 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0165 a0001c0001t0002g0030 a0001c0001t0002g0297 a0001c0001t0018g0020	7	388	0.0180	571	c.-23 others(588): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507246	C C	CATACGTA others(564): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATAATGTATATATACATGTATTATA CATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATA ATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTATATA TACATTATACATACGTAAATGTATAATGTATATATACATTATACATACGT AAATGTATAATGTATATATACATTATACATACGTAAATGTATATATATAC ATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0170 a0001c0001t0029g0170	1	388	0.0026	571	c.-23 others(588): Show c.-23+2801_-23+2802insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTATACA TTTACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAAT ACATGTATATATACATTATACATTTACGTATGTATAATACATGTATATAT ACATATATACATTTACGTATGTATAATACATGTATATATACATATATACA TTTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGT ATAATACATGTATATATACATATATACATTTACGTATGTATAATACATGT ATATATACATATATACATTTACGTATGTATAATACATGTATATATACATA TATACATTTACGTATGTATAATACATGTATATATACATATATACATTTAC GTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(564): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATAAA AATTATATATATTATATATATAAAAATTATATATATATTATATATATAAA AATTATATATATATTATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATAAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATATAAATTATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0006 a0002c0002t0003g0006	1	272	0.0037	571	c.28 others(582): Show c.2888_*2889insTATATATATATTATATATATATAAAAATTATATA TATATTATATATAAAAATTATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATAAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATATA AATTATATATATTATATATATATAAAAATTATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(564): Show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	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	272	0.0037	571	c.29 others(582): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATAAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870196	A A	ACACCCCA others(564): Show ACACCCCACACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACAAACCACACACCCTACACACCCCACACACACCACAC ACCACACACACACCACACCCCATACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACAAACCACACACCCTAC ACACCCCACACACACCACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	338	0.0030	571	c.35 others(590): Show c.35+21466_*35+21467insCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACAAACCACACACCCTAC ACACCCCACACACACCACACACCACACACACACCACACCCCATACACACC ACACCCCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACAAACCACACACCCTACACACCCCACACACACCACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VGLL4_chr3_11551069_11648915	11599587	C C	CGGCTCAC others(564): Show CGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GGCTTCTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTC GGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTT AAGACAGAGTCGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCG GGTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAGACAGAGTCTCAGCT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	388	0.0026	571	c.272 others(588): Show c.272+2245_272+2246insAGCTGAGACTCTGTCTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTA ATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGTGCCCGGCCGACTCTGTCTTAAAAAA AAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCGAGCAC TTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGAAGCCTGAGGC AGGAGAATGGCGTGAACCTGGGAGGCGGAACTTGGAGTGAGCC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCACATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTAAGACAGAGTCGG CCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGTTGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG01255.hp1 others(37): Show HG00438.hp2 HG00621.hp1 HG01255.hp1 HG01346.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02280.hp1 HG02293.hp1 HG02572.hp2 HG02615.hp2 HG03130.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18939.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18982.hp1 NA18990.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19066.hp1 NA19068.hp2 NA19084.hp2 NA19085.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006 a0002c0009 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0014 a0002c0006t0005 a0002c0009t0001 a0003c0010t0026	a0001c0001t0001g0004 a0001c0001t0001g0112 a0001c0001t0001g0162 others(37): Show a0001c0001t0001g0004 a0001c0001t0001g0112 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0186 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0003g0374 a0001c0001t0003g0376 a0001c0001t0005g0089 a0001c0001t0016g0375 a0001c0002t0002g0240 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0002c0003t0001g0038 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0067 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0080 a0002c0003t0001g0130 a0002c0003t0002g0282 a0002c0003t0014g0065 a0002c0006t0005g0007 a0002c0006t0005g0050 a0002c0006t0005g0068 a0002c0009t0001g0066 a0003c0010t0026g0188	40	388	0.1031	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCAACA CCACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACT CTGTCTTAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGTGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTCTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0116 a0001c0001t0012g0116	1	388	0.0026	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCA CACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCTG TCTTAAAAAAAAAAAAAAAAGAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18954.hp2 NA19011.hp2 others(1): Show HG02015.hp1 NA18954.hp2 NA19011.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0027 others(1): Show a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0056	4	388	0.0103	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTTAAGACAGAGT CGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGG CGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG01891.hp2 others(9): Show HG01081.hp1 HG01884.hp2 HG01891.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028 a0001c0002t0004 a0001c0002t0017	a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0004g0281 others(9): Show a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0004g0281 a0001c0001t0006g0118 a0001c0001t0008g0117 a0001c0001t0012g0119 a0001c0001t0015g0092 a0001c0001t0015g0115 a0001c0001t0022g0114 a0001c0001t0028g0356 a0001c0002t0004g0208 a0001c0002t0017g0210	12	388	0.0309	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCA CACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCTG TCTTAAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	388	0.0026	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTAAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19087.hp1 NA19001.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0342 a0001c0001t0002g0365 a0001c0001t0002g0342 a0001c0001t0002g0365	2	388	0.0052	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTC TGTCTTTAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0088 a0001c0001t0009g0088	1	388	0.0026	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03831.hp1 HG02056.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0193 a0001c0001t0001g0033 a0001c0001t0001g0193	2	388	0.0052	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCAC CACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTC TGTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	388	0.0026	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01257.hp1 HG01257.hp2 others(13): Show HG00733.hp2 HG01257.hp1 HG01257.hp2 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03239.hp1 HG03486.hp1 HG03834.hp2 NA18977.hp1 NA18985.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0002t0002 a0001c0002t0019 a0001c0002t0029 a0001c0004t0002	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0126 others(13): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0126 a0001c0001t0001g0171 a0001c0001t0002g0325 a0001c0001t0002g0344 a0001c0001t0002g0348 a0001c0001t0004g0311 a0001c0001t0010g0128 a0001c0001t0010g0129 a0001c0001t0010g0172 a0001c0001t0013g0058 a0001c0002t0002g0212 a0001c0002t0019g0241 a0001c0002t0029g0256 a0001c0004t0002g0292	16	388	0.0412	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(564): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTTAAGACAGAGTC GGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGG TGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGC GGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAGA GTCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00673.hp1 HG02135.hp2 others(4): Show HG00423.hp2 HG00673.hp1 HG02135.hp2 HG02523.hp1 HG02683.hp2 HG03491.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 a0001c0004t0002 a0001c0005t0002 a0001c0005t0003	a0001c0002t0002g0231 a0001c0002t0003g0223 a0001c0002t0033g0222 others(4): Show a0001c0002t0002g0231 a0001c0002t0003g0223 a0001c0002t0033g0222 a0001c0004t0002g0286 a0001c0005t0002g0225 a0001c0005t0003g0228 a0001c0005t0003g0232	7	388	0.0180	571	c.272 others(588): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGA GATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar

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Search Results (Total: 10000 hits)