Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ 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
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(595): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGG GGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGC GGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG06807.hp2 HG01884.hp1 HG03486.hp2 HG06807.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0003c0010 a0001c0002 a0003c0005 a0003c0010	a0001c0002t0002 a0003c0005t0009 a0003c0010t0012 a0001c0002t0002 a0003c0005t0009 a0003c0010t0012	a0001c0002t0002g0035 a0003c0005t0009g0077 a0003c0010t0012g0034 a0001c0002t0002g0035 a0003c0005t0009g0077 a0003c0010t0012g0034	3	282	0.0106	602	c.623 others(619): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGG GGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGC TCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAG GCGGGGCTCGGGGGGAGGCGGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163314	A A	ACAGAACC others(595): Show ACAGAACCGGACCCCTCCCCTCCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCT CCT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0019 a0019	a0019c0052 a0019c0052	a0019c0052t0014 a0019c0052t0014	a0019c0052t0014g0278 a0019c0052t0014g0278	1	282	0.0036	602	c.258 others(619): Show c.2584-159_2584-158insCCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAG AACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTC CCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACC GGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCT CCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAG CCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCT CCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCT CCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTCCTCAGA ACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCT CCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCG GAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCT CCTCAGAACCGGACCCCTCCCCTC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(595): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCC GCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	312	0.0032	602	c.-41 others(617): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CGCCCCCACAGCCGCCCCCCACAGCCACCCCCACAGCCGCCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(595): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCC CCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCG CCCCCCACAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	312	0.0032	602	c.-41 others(617): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACC CCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCC GCCCCCCACAGCCACCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(595): Show GCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGG TAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAG GACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAG GGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATC AGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAG AGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAG GACCCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATC AGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCA GGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0206 a0001c0003t0003g0206	1	330	0.0030	602	c.430 others(617): Show c.430-232_430-231insTCCTGATGGCGGCCCCCACCCCTCACTCAG GGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGCTGGC TCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGG GTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCC CTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAG GGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGC CCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGG GTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCC CTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAG GGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGC CCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTC AGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCG GCCCCCACCCCTCACTCAGGGG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LARS1_chr5_146108034_146187650	146174473	T T	TATATCCA others(595): Show TATATCCATATATATATATATCCATATATATATATCCATATATATATATC CATATATATATCCATATATATATATCCATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATGGATATATATATATCCATATATATC TATCCATATATATATCCATATATATCTATCCATATATATATCCATATATC TATCCATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATCCATATATATATATCCATATATATATATATATCCATATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATC CATATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATA TCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	284	0.0035	602	c.126 others(619): Show c.126-1700_126-1699insGGATATATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATATGGATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATAT ATGGATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATGGATAGATATATGGATATATATATGGATAG ATATATATGGATATATATATGGATAGATATATATGGATATATATATATCC ATATATATGGATATATATATATGGATATATATATGGATATATATATATGG ATATATATATGGATATATATATATGGATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATATGGATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(595): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATATTATTTATATATATATTTATATATATTTATATATATTTATATATA TAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0123 a0002c0002t0001g0123	1	260	0.0039	602	c.125 others(619): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATATTATTTATATATATATTTATATATA TTTATATATATTTATATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATAT others(595): Show ATATATATTTTTATATATATTTATATATATTTTTATATATATTTATATAT ATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTAT AGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT TTATATATATTTATATATGTATTTATATATATTTATATATATTTATATGT ATTTATATATATTTATATATATTTATATATATATATAAATATATTTATAT ATATAAATATAAATATTTATATATATTTATATATATTTATATATATATTT ATGTATATTTATATATATTTATATATATATTTATGTATATTTATATATGT ATT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	260	0.0039	602	c.125 others(619): Show c.125+9673_125+9674insATATTTTTATATATATTTATATATATTT TTATATATATTTATATATATTTATATATAGTTATATATATTTATGTATAG TTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAT AGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATAAATATATTTATATATATAAATATAAATATTTATATATATTTATAT ATATTTATATATATATTTATGTATATTTATATATATTTATATATATATTT ATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGGGA others(595): Show GAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAG GGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAG GGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGACCAGACAGAGACAGACAGAGACAG ACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	602	c.-41 others(613): Show c.-4154_-4153insAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGA GAGGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGGAGA GGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACCAGACAGA GACAGACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
MINK1_chr17_4828340_4903061	4852816	G G	GTTGGTGG others(595): Show GTTGGTGGGGGAGTGTGATTGGTGGAGTGTGGTTGGTAGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTT GGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTT TGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGG TTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGG TTGATGGGAGTGTGGTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGTGGAGTG TGT	intron_variant intron_variant	MODIFIER	NA20805.hp1 homoSapiens_chm13v2.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0019 a0001c0004t0006 a0001c0004t0019	a0001c0004t0006g0342 a0001c0004t0019g0336 a0001c0004t0006g0342 a0001c0004t0019g0336	2	360	0.0056	602	c.57+ others(619): Show c.57+19178_57+19179insGGTGGGGGAGTGTGATTGGTGGAGTGTG GTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGG TTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGT GGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTG TGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGT GGTTGGTGGGGCAGTGTGGTTGATGGGAGTGTGGTTGATGGGGAGTGTGG TTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGT GTGGTTGATGGGTGGAGTGTGTTT	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852816	G G	GTTGGTGG others(595): Show GTTGGTGGGGGAGTGTGATTGGTGGAGTGTGGTTGGTAGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTT GGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTT TGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGG TTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTTGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTGTG GTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGTGG TTGGTGGGGCAGTGTGGTTGATGGGAGTGTGGTTGATGGGGAGTGTGGTT GATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGTGGAGTG TGT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0042 a0001c0004t0042	a0001c0004t0042g0346 a0001c0004t0042g0346	1	360	0.0028	602	c.57+ others(619): Show c.57+19178_57+19179insGGTGGGGGAGTGTGATTGGTGGAGTGTG GTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGGGGAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGT GTTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTTGTGGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGT GTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGAGTGTG GTTGATGGGGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGATGGGGGGAGT GTGGTTGATGGGTGGAGTGTGTTT	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(595): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGG GGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGG TGG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18954.hp1 NA18950.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	272	0.0074	602	c.250 others(617): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTT TCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(595): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATTATATATATAT AAAATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATAT AAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATA TATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAA TCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0071 a0004c0005t0008g0071	1	330	0.0030	602	c.-5+ others(617): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAA AATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATA TATAATATATAAAATAAGATTTTATATATATATAATATATAAAATAAGAT TTTATATATATATAATATATAAAATAAGATTTTATATATATAAAAATATA TATAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAAT AAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(595): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	364	0.0028	602	c.394 others(617): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATATGTTCATATATATATTCATATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGAT others(595): Show GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGC GATGGTGGTGGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGTGGTGACCATGAT GGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGG TGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTCGT GGTGGTAGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAG TGCTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTAGTG TTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	384	0.0026	602	c.160 others(619): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACC ATCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCAC CAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTACCA CTACCACCACGACTACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCACCACCACTACTGCCACCGC CGCCACCATCACCACCACCACCATCGCCGCCACCACCACCACCACCACCA TCACCACCATCACCACCATCACCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(595): Show CTGTATATATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTAC AGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTATACTGTATG TATGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATG CAGTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACAT ACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACT GTATATATACACTATACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0067 a0001c0004t0004g0067	1	362	0.0028	602	c.-75 others(621): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAG TATACATACTGTATAGTGTATATATACAGTATACATACTGTATAGTGTAT ATATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCA TGCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGT ATATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTAT ATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACA CAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(595): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATA CTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTG TATATATACACTATACAGTATGTATACTGTATATATACACTATACAGTAT GTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	362	0.0028	602	c.-75 others(621): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTA TGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGC ATACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACATACAGTATACATACATACAGTATACATACATACAGTATACATGC TGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TGTCTCCT others(595): Show TGTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCCTCCCCTTCCCCTCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCT CCCCCTCCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCC CCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCC TCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0290 a0001c0001t0005g0290	1	326	0.0031	602	c.433 others(619): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGG AAGGGGAGAGGGAAGGGGGAGGGGGAGGGGAGGGGAAGGGGGAGGGGGAG GGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGAA GGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAC	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	949046	T T	TCCCCCCT others(595): Show TCCCCCCTGCCTCCTCCTCTCCCCGTGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG CGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCC CCGGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0220 a0001c0001t0013g0220	1	242	0.0041	602	c.360 others(621): Show c.360+30272_360+30273insGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGA GGAGGCAGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CACGGGGAGAGGAGGAGGCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3680695	G G	GTCCTCCA others(595): Show GTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGT CCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACC CAGCGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGTGTCC TCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCT GCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTC CACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCTGC ATCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCA CCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCAT CCTCCACCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACC CAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCC TCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCTGCGTCCTCCACCCT GCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18947.hp2 NA18957.hp1 others(10): Show HG00323.hp2 NA18947.hp2 NA18957.hp1 NA18964.hp2 NA18993.hp2 NA18995.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19066.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0034 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0281 a0001c0001t0001g0326 a0001c0001t0002g0137	13	362	0.0359	602	c.106 others(619): Show c.1065-912_1065-911insTGCAGGGTGGAGGACGCAGGGTGGAGGA TGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGT GGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACG CTGGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGG AGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGACACT GGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGG GTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGA TGCAGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGT GGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATG CAGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGG AGGACGCTGGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGGAGGATGCA GGGTGGAGGATGCAGGGTGGAGGA	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11			chr17	TogoVar
PHF2_chr9_93571584_93684587	93618897	G G	GTTTCCAT others(595): Show GTTTCCATGTGTGTGTTTGCATATGTGGTATGTGTGATGTGTGTGTGCAT GTGTCTGTTTTGTGTTTGCATGTGTGTTTTGTGTGTGTGCCTGGATGTGT GGTATGTGTGTGTGCCTGGAGGTGTGTGTGTATGTGTACCTGTGTGTCTG TGTGTGTAATGTGTGTGGCTGCGTGTGTGGTGTTTGTGTGTCTGCGTGTG TGTGGTGTGTGTTGTGTGTTTGCCCGTGTGGTGGGTGTGTCTGTGTCTGC ATGTGTGTGGTGTGTGTGTCTGTATGTATGTTGTATATTTCTGTGTGCAT GTGTGGTGTGTTTCTGTCTGTGTGTGATGTGTGTGTGTCTGTGGGGTGTA TGTGTCTGCGTGTGTATTTGTGTCTGCATATGTGTGGTGTGTTTGCGTGT TTGGGGTATGTATGTGTGTCTGTGTGATGTGTATGTGTGTCTGCATGTGT GGTGTGTGTGCATGTTTGTGTCTGTGTGTAGTGTGTGTATGTATCTCTGA ATGTGTGTTGTGTCTGTGTGTGTATTGTGTGTTTGTGTGTGGCATGTGTC CGCATGTGTGTTGTGTGTGTGTGTGTGGTGTGTCTGCATGTGTGTGGTGT GTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	350	0.0029	602	c.99- others(619): Show c.99-11072_99-11071insTTCCATGTGTGTGTTTGCATATGTGGTA TGTGTGATGTGTGTGTGCATGTGTCTGTTTTGTGTTTGCATGTGTGTTTT GTGTGTGTGCCTGGATGTGTGGTATGTGTGTGTGCCTGGAGGTGTGTGTG TATGTGTACCTGTGTGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTGTGG TGTTTGTGTGTCTGCGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGTGTG GTGGGTGTGTCTGTGTCTGCATGTGTGTGGTGTGTGTGTCTGTATGTATG TTGTATATTTCTGTGTGCATGTGTGGTGTGTTTCTGTCTGTGTGTGATGT GTGTGTGTCTGTGGGGTGTATGTGTCTGCGTGTGTATTTGTGTCTGCATA TGTGTGGTGTGTTTGCGTGTTTGGGGTATGTATGTGTGTCTGTGTGATGT GTATGTGTGTCTGCATGTGTGGTGTGTGTGCATGTTTGTGTCTGTGTGTA GTGTGTGTATGTATCTCTGAATGTGTGTTGTGTCTGTGTGTGTATTGTGT GTTTGTGTGTGGCATGTGTCCGCATGTGTGTTGTGTGTGTGTGTGTGGTG TGTCTGCATGTGTGTGGTGTGTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(595): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATT ATATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAA GTATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGCAT ATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTAT ATAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTAT ATA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0090 a0001c0003t0002g0090	1	106	0.0094	602	c.862 others(619): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATGTATTATATAATTATATAATTATATATTATTTATTACATAATTA TATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTT ATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(595): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAA GTATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGCAT ATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTAT ATAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTAT ATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18948.hp1 HG01071.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0102 a0001c0004t0003g0039 a0001c0001t0001g0102 a0001c0004t0003g0039	2	106	0.0189	602	c.862 others(619): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTACATAATTA TATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTT ATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(595): Show TATATATAATTATATGTAATTATATATAATTATATAATTATTATATAATT GTATATAATATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATAATTATATATTATTTATTATATAATATATAATTATATAATTA TATATTATTTATTATATAATTATATATTATTTATTATATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTT ATTATATAATATATAATTATATATTATTTATTATATAATATATAATTATA TATTATTTATTATATAATTATATATTATGTATTATATAATATATAATTAT ATATTATGTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTACATAATTATATATTATTTATTACATAA GTATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGTAT ATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTAT ATAGTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTAT ATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp1 HG02970.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0004 a0001c0009t0007 a0001c0002t0004 a0001c0009t0007	a0001c0002t0004g0026 a0001c0009t0007g0080 a0001c0002t0004g0026 a0001c0009t0007g0080	2	106	0.0189	602	c.862 others(619): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATTATATAATTGTATATAATATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATAATTATATATTATTTATTATATA ATATATAATTATATAATTATATATTATTTATTATATAATTATATATTATT TATTATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATGTA TTATATAATATATAATTATATATTATGTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTACATAATTA TATATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATC ACTTATTATATAATTGTATATAATTATTTATTATATAATTGCATATAATT ATTTATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTT ATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114043949	C C	CCCCCGCC others(595): Show CCCCCGCCTCACTCGCTGAGCTCCCCCACCCCGCCTCACTCGCTGAGCCC CCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAG CTCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCGCCCCGCCTCACTCTCT GAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCGCCCCGCCTCACT CGCTGAGCTCCCCCCCGCCTCACTCTCTGAGCCCCCCCGCCCCGCCTCAC TCGCTGAGCTCCCCCCCGCCTCACTCGCTGAGCTCCCCCACCCGCCTCAC TCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCGCCCCGCCT CACTCGCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCCCCCGCC TCACTCGCTGAGCCCCCCCCCGCCCCGCCTCACTCTCTGAGCCCCCCCGC CCCGCCTCACTCTCTGAGCTCCCCCGCCCCGCCTCACTCGCTGAGCTCCC CCCCGCCTCACTCTCTGAGCCCCCCCGCCCCGCCTCACTCGCTGAGCTCC CCCCCGCCTCACTCGCTGAGCTCCCCCACCCGCCTCACTCGCTGAGCCCC CCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	67	0.0149	602	c.278 others(619): Show c.278-2856_278-2855insCGGGGGGCTCAGCGAGTGAGGCGGGTGG GGGAGCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCG GGGGGGCTCAGAGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGC GGGGGAGCTCAGAGAGTGAGGCGGGGCGGGGGGGCTCAGAGAGTGAGGCG GGGCGGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAG GCGGGGCGGGGGGGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGCGAG TGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGTGGGGGAGCTCAGCG AGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGGGCTCAGA GAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGGAGCTCAG CGAGTGAGGCGGGGCGGGGGGGCTCAGAGAGTGAGGCGGGGCGGGGGGGG GCTCAGCGAGTGAGGCGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGGG GGCTCAGCGAGTGAGGCGGGGCGGGGGGCTCAGCGAGTGAGGCGGGGTGG GGGAGCTCAGCGAGTGAGGCGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(595): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATATTCCATATATATATATATTCCATATATA TATATATATTCCATATATATATATATTCCATATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATATTC CAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	324	0.0031	602	c.115 others(619): Show c.115-2573_115-2572insATGGAATATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATATGGAA TATATATATATATGGAATATATATATATATATGGAATATATATATATATG GAATATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(595): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCTCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTTTCC CTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	150	0.0067	602	c.77- others(619): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC TCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCC TCCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCC CCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(595): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCC TCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCTCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTTTCC CTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	158	0.0063	602	c.22+ others(619): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCC TCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCC TCCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTC TCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCC CCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC22A18_chr11_2897278_2930246	2921552	A A	AAGCCTGT others(595): Show AAGCCTGTCCCACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTG TCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCCACC GAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCA TCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGG GAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGC CTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGC CGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCT GTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCAC CGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCC ATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCG GGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAG CCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGG CCG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18994.hp1 NA19074.hp2 HG02523.hp2 NA18994.hp1 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0030 a0002c0003t0001g0162 a0002c0002t0001g0030 a0002c0003t0001g0162	3	405	0.0074	602	c.865 others(617): Show c.865-534_865-533insTCCATCCCCGGGAGCAGCCTGCGGCCGAGC CTGTCCCACCGAGCCCATCCCAGGGAGCAGCCTGCGGCCAAGCCTGTCCC ACCGAGTCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGC CCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCC CGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGC AGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGC GGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAG CCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCC CACCGAGCCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAG CCCATCCCCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCC CCGGGAGCAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAG CAGCCTGCGGCCGAGCCTGTCCCACCGAGCCCATCCCCGGGAGCAGCCTG CGGCCGAGCCTGTCCCACCGAG	SLC22A18	ENSG00000110628.16	transcript	ENST00000649076.2	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79952713	A A	AGCGCGGG others(595): Show AGCGCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCG GGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAG GGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGA GGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCG CGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGG TGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGG GTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGG GGAGCGCGGGTGAGGGGTGAGGGGGAGCGCGGGTGAGGGGTGAGGGGAGC GCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAG TGAGGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGG GAGCGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGG GGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0040 a0002c0006t0040	a0002c0006t0040g0335 a0002c0006t0040g0335	1	352	0.0028	602	c.-12 others(613): Show c.-1233_-1232insGCCCCTCACCCTTCACTCGCGCATCACTCACGCC TCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCACCC CTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTCACC CGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCT CCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCCT CACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCC TCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTC CCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCA CCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTC ACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCC CTCACCCTTCACCCGCGC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1061		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(595): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGG GTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGG GGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGGTGAAGAGTGA GGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAG CGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGC GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0308 a0001c0001t0011g0308	1	352	0.0028	602	c.-12 others(613): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCCGCGCGCCCCTCACACTT CACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCG CGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCC CCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCAC CCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCA CCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCG CTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCC CTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACC CGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCG CCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(595): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGA GCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAG GGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTGA GGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAG CGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGC GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	352	0.0028	602	c.-12 others(613): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCCTCACCCCTCACCCGCGCTCC CCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCAC CCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCA CCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCG CTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCC CTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACC CGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCG CCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952716	G G	GCGGGTGA others(595): Show GCGGGTGAAGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGT GAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGG TGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGG GAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGAGCGC GGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGA GGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTG AGGGGAGCGCGGGTGAGGGGTGAGGGGGAGCGCGGGTGAGGGGTGAGGGG AGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGAGCGCGGGTGAG GGGTGAGGGGCGCGCGGGTGAAGTGTGAGGGGCGCGCGGGTGAAGAGTGA GGGGAGCGTGGGTGAGGGGTGAGGGGCGCGCCGGTGAAGGGTGAGGGGAG CGTGGGTGAGGGGTGAGGCGTGAGTGATGCGCGAGTGAAGGGTGAGGGGC GCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0332 a0001c0001t0012g0332	1	352	0.0028	602	c.-12 others(613): Show c.-1236_-1235insGGCGCCCCTCACCCTTCACTCGCGCATCACTCAC GCCTCACCCCTCACCCACGCTCCCCTCACCCTTCACCGGCGCGCCCCTCA CCCCTCACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACACTTC ACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGC GCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCC CTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCCTCAC CCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCA CCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCG CTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCGCCCC TCACCCCTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCC CTCACCCGCGCTCCCCTCACCCCTCACCCGCGCTCCCCTCACCCCTCACC CGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCG CCCCTCACCCTTCACCCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		1064		chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501118	C C	CATATTTT others(595): Show CATATTTTATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTATATATTATAATATATAATATATTATATATTATAATATATAA TATATTATATATTATAATATATAATATATTATATATTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATATAATATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTTTATAATATATATTATATTTTATAATATAT ATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATAT TATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTA TATTTTATAATATAGAATATATATTATATTTTATAATATAGAATATATAT TATATTTTATAATATAGAATATATATTATATTTTATAATATAGAATATAT ATT	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18522.hp2 HG03130.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	340	0.0059	602	c.17 others(621): Show c.174+9760_*174+9761insAATATATATTCTATATTATAAAATAT AATATATATTCTATATTATAAAATATAATATATATTCTATATTATAAAAT ATAATATATATTCTATATTATAAAATATAATATATTATATATTATAAAAT ATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATAT AATATATTATATATTATAAAATATAATATATATTATAAAATATAATATAT ATTATAAAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAATATATAAT ATATTATATATTATAATATATAATATATTATATATTATAATATATAATAT ATTATATATTATAATATATAATATATATTATATATTATAATATATAATAT ATATTATATATTATAATATAAAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(595): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAC TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATAGTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATTTTATATATAGTATATATATTATGTATA GTATATATATTATATATAGTATATATTTTATGTATAGTATATATATTATG TATAGTATATATTTTATATATAGTATATATATTATGTATAGTATTATATA TTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATATA TGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0096 a0003c0004t0001g0096	1	268	0.0037	602	c.291 others(621): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATACTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATAGTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATTTTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATTTTAT ATATAGTATATATATTATGTATAGTATATATATTATATATAGTATATATT TTATGTATAGTATATATATTATGTATAGTATATATTTTATATATAGTATA TATATTATGTATAGTATTATATATTTTATATATAGTATATATATTATGTA TAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(595): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATAGTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATTTTATATATAGTATATATATTATGTATA GTATATATATTATATATAGTATATATTTTATGTATAGTATATATATTATG TATAGTATATATTTTATATATAGTATATATATTATGTATAGTATTATATA TTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATATA TGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00140.hp1 HG00642.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0095 a0003c0004t0001g0097 a0003c0004t0001g0095 a0003c0004t0001g0097	2	268	0.0075	602	c.291 others(621): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATAGTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATTTTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATTTTAT ATATAGTATATATATTATGTATAGTATATATATTATATATAGTATATATT TTATGTATAGTATATATATTATGTATAGTATATATTTTATATATAGTATA TATATTATGTATAGTATTATATATTTTATATATAGTATATATATTATGTA TAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(595): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATATTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATTTTATATATAGTATATATATTATGTATA GTATATATATTATATATAGTATATATTTTATGTATAGTATATATATTATG TATAGTATATATTTTATATATAGTATATATATTATGTATAGTATTATATA TTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATATA TGT	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0217 a0003c0004t0001g0217	1	268	0.0037	602	c.291 others(621): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATATTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATTTTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATTTTAT ATATAGTATATATATTATGTATAGTATATATATTATATATAGTATATATT TTATGTATAGTATATATATTATGTATAGTATATATTTTATATATAGTATA TATATTATGTATAGTATTATATATTTTATATATAGTATATATATTATGTA TAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(595): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATATTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATATTA TATATAGTATATATTTTATATATAGTATATATTTTATATATAGTATATAT TTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTAT ATATATTATATATAGTATATATTTTATATATAGTATATATATTATGTATA GTATATATATTATATATAGTATATATTTTATGTATAGTATATATATTATG TATAGTATATATTTTATATATAGTATATATATTATGTATAGTATTATATA TTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATATA TGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0021 a0021	a0021c0047 a0021c0047	a0021c0047t0001 a0021c0047t0001	a0021c0047t0001g0132 a0021c0047t0001g0132	1	268	0.0037	602	c.291 others(621): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATATTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATATTATATATAGTATATATTTTATATATAGTA TATATTTTATATATAGTATATATTTTATATATAGTATATATATTATATAT AGTATATATTTTATATATAGTATATATATTATATATAGTATATATTTTAT ATATAGTATATATATTATGTATAGTATATATATTATATATAGTATATATT TTATGTATAGTATATATATTATGTATAGTATATATTTTATATATAGTATA TATATTATGTATAGTATTATATATTTTATATATAGTATATATATTATGTA TAGTATTATATATTTTATATATATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(595): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGA GTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGC CCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01516.hp2 HG01943.hp2 HG01515.hp1 HG01516.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0003 a0001c0001t0005g0032 a0001c0001t0005g0129 a0001c0001t0003g0003 a0001c0001t0005g0032 a0001c0001t0005g0129	3	422	0.0071	602	c.64 others(613): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC ACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(595): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGC CTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0131	1	422	0.0024	602	c.64 others(613): Show c.6483_*6484insCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC ACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGC CCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(595): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGCGTATATATGTGCATATATACGCATATATG CGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	188	0.0053	602	c.152 others(621): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGCGTATAT ATGTGCATATATACGCATATATGCGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGAGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGG AGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAG AACGGGGTGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGGGTGGGAGGG GTGGGAGAACGGGGTGGGGGTGGGAGGGGTGGGAGAACGGGGTGGGGGTG GGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACGGGGTGAGA GCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGAGGC GGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGG GGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGG TGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTG GGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGG GGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02129.hp1 HG02135.hp2 others(7): Show HG00597.hp1 HG02129.hp1 HG02135.hp2 NA18955.hp2 NA18975.hp2 NA19004.hp2 NA19010.hp1 NA19056.hp2 NA19065.hp2 NA19088.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0015 a0001c0030 others(1): Show a0001c0001 a0001c0015 a0001c0030 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0015t0001 a0001c0030t0002 a0010c0018t0002	a0001c0001t0001g0049 a0001c0001t0001g0124 a0001c0001t0002g0232 others(7): Show a0001c0001t0001g0049 a0001c0001t0001g0124 a0001c0001t0002g0232 a0001c0001t0002g0247 a0001c0001t0002g0268 a0001c0001t0003g0302 a0001c0001t0014g0048 a0001c0015t0001g0043 a0001c0030t0002g0218 a0010c0018t0002g0266	10	364	0.0275	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCC ACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCCTCCTCCCCGTTCCCCCACCC CGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCTCG CTCCCACCCCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACC CCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCCCACCCCGTTCT CCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCTC TCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCGC TCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAAC GGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGA GAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0316 a0001c0002t0008g0316	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCAC CCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCC CGTTCTCCCACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGA ACGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0300 a0001c0001t0030g0300	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0139 a0002c0003t0013g0139	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG03654.hp1 others(1): Show HG00544.hp2 HG00735.hp2 HG03654.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0023 a0001c0002t0003	a0001c0001t0004g0176 a0001c0001t0006g0236 a0001c0001t0023g0055 others(1): Show a0001c0001t0004g0176 a0001c0001t0006g0236 a0001c0001t0023g0055 a0001c0002t0003g0323	4	364	0.0110	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03669.hp2 HG02145.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0015 a0001c0026t0007 a0001c0001t0015 a0001c0026t0007	a0001c0001t0015g0211 a0001c0026t0007g0080 a0001c0001t0015g0211 a0001c0026t0007g0080	2	364	0.0055	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCCGTTCCCCCACCCCGCT CCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCC CACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCA CCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(595): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGGAAC GGGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGG TGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTG GGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGCGGGGTGGGAG AAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	364	0.0028	602	c.157 others(621): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCCACCCCGCTCCCACC CCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCC GTTCCCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCTCACCCCCA CCCCGCTCTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACC CCGTTCTCCCACCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCAC CCTGCTCTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCC ACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTCTCCCACC CCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar

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Search Results (Total: 10000 hits)