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
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(570): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTC TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCCCTC CTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTC CCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02897.hp2 HG02886.hp2 HG02897.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0005 a0002c0004 a0004c0005	a0002c0004t0001 a0004c0005t0001 a0002c0004t0001 a0004c0005t0001	a0002c0004t0001g0030 a0004c0005t0001g0019 a0002c0004t0001g0030 a0004c0005t0001g0019	2	140	0.0143	577	c.114 others(596): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTC CCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTC CCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCC T	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYDGF_chr19_4652545_4675342	4663119	T T	TCATCCTC others(570): Show TCATCCTCATTCTACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCT CATTCTACACAGCCTCCAATCTACCCTCCCCATCCACCCCGTCCTCATTC TACAGCCTCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCC TCCAATCTACCCTCCCCACCCACCCCATCCTCATTCTACAGCCTCCAATC TACCCTCCCCACCCGTCCTGTCCTCATTCTACACAGCCTCCAATCTACCC TCCCCACCCGTCCTGTCCACATTCTACACAGTCTCCAATCTACCCTCCCC ACCCACCCCATCCTCATTCTACAGCCTCCAATCTGTGCCCTCTCCACCCA TCCCATCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTG TCCTCATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTC ATTCTACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCTCATTCT ACACAGCCTCCAATCTACCCTCCCCACCCGTCCTGTCCACATTCTACACA GTCTCCAATCTACCCTCCCCACCCACCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0103 a0002c0002t0002g0103	1	410	0.0024	577	c.287 others(594): Show c.287+1756_287+1757insGGGTGGGTGGGGAGGGTAGATTGGAGAC TGTGTAGAATGTGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGT AGAATGAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAAT GAGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGA CAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTGTAGAATGAGGATGGGA TGGGTGGAGAGGGCACAGATTGGAGGCTGTAGAATGAGGATGGGGTGGGT GGGGAGGGTAGATTGGAGACTGTGTAGAATGTGGACAGGACGGGTGGGGA GGGTAGATTGGAGGCTGTGTAGAATGAGGACAGGACGGGTGGGGAGGGTA GATTGGAGGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGA GGCTGTAGAATGAGGATGGGGTGGGTGGGGAGGGTAGATTGGAGGCTGTA GAATGAGGACGGGGTGGATGGGGAGGGTAGATTGGAGGCTGTGTAGAATG AGGACAGGACGGGTGGGGAGGGTAGATTGGAGGCTGTAGAATGAGGATG	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(570): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	577	c.-28 others(588): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(570): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTC GGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGC CGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACAC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0001 a0012c0033t0001	a0012c0033t0001g0154 a0012c0033t0001g0154	1	294	0.0034	577	c.902 others(592): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(570): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGT CCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCAGTCCCTC CCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTCCGTCCCCACA GAGCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCCCCACAGGCCC CCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAGAGCCCCCAGT CCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGT CCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0012 a0001c0003t0008g0012	1	324	0.0031	577	c.140 others(594): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGC TCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGCTCTG GGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGGGGCTCTGTGGGGA GGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACGGA CTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841610	A A	AGAGCATC others(570): Show AGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCA CGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCA GGTCCCCCCTGACCACAGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGA CCACAGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCAT CTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCG AGCAGGTCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAG CATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCAC AGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	242	0.0041	577	c.361 others(596): Show c.361-15533_361-15532insCGTGGTCAGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCT CTGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGA GGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGA TGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGACCTG CTCGCCCGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTG AGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGT GGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCTGTGGTCAGGGGGGA CCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGG CGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCT C	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841612	A A	AGCATCTC others(570): Show AGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGG TCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACATGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGG CAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCT GACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCA TCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACCCA CGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACG GCGCATCTCACATGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACA CCCACAGGCAGGTCCCCCCGACCACGGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	242	0.0041	577	c.361 others(596): Show c.361-15535_361-15534insGCCGTGGTCGGGGGGACCTGCCTGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCATGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAG GGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCC CGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGA GATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGG TCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACC TGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCATG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCC GTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATG C	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841612	A A	AGCATCTC others(570): Show AGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAG GTCCTCCCGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGAC CACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACAGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCGA GCAGGTCCCCCCGACCACAGCGCATCTCACACGGGCAAGCAGGTCCACCC TGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCC CCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACG GCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACA CCCACAGGCAGGTCCCCCCGACCACGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	242	0.0041	577	c.361 others(596): Show c.361-15535_361-15534insGCCGTGGTCGGGGGGACCTGCCTGTG GGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAG ATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTTGCCCGTGTGAGATGCGCTGTGGTCGGGGGGACCT GCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCCGTG TGAGATGCGCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGGGAGG ACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATG C	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(570): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCA CCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGG AGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGC AGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACGCCGGC GAGCAGGTCCACCCTGACCACAGCGCATCTCACACCCACAGGCAGGTCCC CCCGACCACGGCGCATCTCACACGGGCG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	242	0.0041	577	c.361 others(596): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCCTGTGGGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGC TCGCCGGCGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGT GGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATG CTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAG GGTGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGC T	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PASK_chr2_241101099_241154472	241116183	A A	AGCATCCC others(570): Show AGCATCCCATTACACCAGGGACACCCGGTCCTCAAGCATCCCATTACACC AGGGACACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCAGTCCT CAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACA CCAGGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTC CTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTA CACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGG TCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCAT TACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACC GGTCCTCAAGCATCCCATTACACCGGGGCCACCGGTCCTCAAGCATCCCA TTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACGCCAGGGACACC TGGTCCCCAAGCATCCCGTTACACCAGGGCCACCCGGTCCCCAAGCATCC CATTACACCAGGGCCACACGGTCCTCAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19240.hp1 HG02559.hp1 NA19240.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0121 a0008c0016t0001g0148 a0008c0016t0001g0121 a0008c0016t0001g0148	2	376	0.0053	577	c.307 others(594): Show c.3073-771_3073-770insCTGAGGACCGTGTGGCCCTGGTGTAATG GGATGCTTGGGGACCGGGTGGCCCTGGTGTAACGGGATGCTTGGGGACCA GGTGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAA TGGGATGCTTGAGGACCGGTGGCCCCGGTGTAATGGGATGCTTGAGGACC GGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTA ATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGA CCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTG TAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAG GACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGG TGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTG AGGACTGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGTCCCT GGTGTAATGGGATGCTTGAGGACCGGGTGTCCCTGGTGTAATGGGATGC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PASK_chr2_241101099_241154472	241116183	A A	AGCATCCC others(570): Show AGCATCCCATTACACCAGGGACACCCGGTCCTCAAGCATCCCATTACACC AGGGACACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCT CAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTACA CCAGGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTC CTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTA CACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGG TCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCAT TACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACC GGTCCTCAAGCATCCCATTACACCGGGGCCACCGGTCCTCAAGCATCCCA TTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACGCCAGGGACACC TGGTCCCCAAGCATCCCGTTACACCAGGGCCACCCGGTCCCCAAGCATCC CATTACACCAGGGCCACACGGTCCTCAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0001 a0008c0016t0001	a0008c0016t0001g0120 a0008c0016t0001g0120	1	376	0.0027	577	c.307 others(594): Show c.3073-771_3073-770insCTGAGGACCGTGTGGCCCTGGTGTAATG GGATGCTTGGGGACCGGGTGGCCCTGGTGTAACGGGATGCTTGGGGACCA GGTGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAA TGGGATGCTTGAGGACCGGTGGCCCCGGTGTAATGGGATGCTTGAGGACC GGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTA ATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGA CCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTG TAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAG GACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGG TGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGGATGCTTG AGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGGTGTCCCT GGTGTAATGGGATGCTTGAGGACCGGGTGTCCCTGGTGTAATGGGATGC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(570): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAATGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18747.hp1 HG02071.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0044 a0001c0001t0003g0045	2	366	0.0055	577	c.-19 others(598): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAATGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(570): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG02074.hp1 others(8): Show HG00544.hp1 HG00609.hp1 HG02074.hp1 HG02165.hp1 HG03704.hp1 HG04184.hp2 NA18948.hp1 NA18962.hp2 NA18971.hp2 NA19005.hp1 NA19007.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0008 a0001c0001 a0002c0002 a0003c0008	a0001c0001t0001 a0001c0001t0035 a0002c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0035 a0002c0002t0003 a0002c0002t0007 a0002c0002t0048 a0003c0008t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0035g0046 others(8): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0035g0046 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0048 a0002c0002t0007g0049 a0002c0002t0048g0047 a0003c0008t0001g0050	11	366	0.0301	577	c.-19 others(598): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(570): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAG AACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01109.hp1 others(14): Show HG00099.hp2 HG00639.hp2 HG01109.hp1 HG01256.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG02004.hp2 HG02056.hp2 HG02293.hp2 HG02300.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp2 HG04115.hp1 NA18747.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0014 a0001c0001t0064 others(3): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0064 a0002c0002t0003 a0002c0002t0045 a0002c0002t0053	a0001c0001t0003g0020 a0001c0001t0003g0056 a0001c0001t0003g0065 others(14): Show a0001c0001t0003g0020 a0001c0001t0003g0056 a0001c0001t0003g0065 a0001c0001t0014g0025 a0001c0001t0014g0026 a0001c0001t0014g0027 a0001c0001t0064g0028 a0002c0002t0003g0019 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0062 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0045g0057 a0002c0002t0053g0059	17	366	0.0465	577	c.-19 others(598): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACACTGAGTGTGAGAA CTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	716525	T T	TGTCGGTG others(570): Show TGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAACTGGGTGTCGGT GCTGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGA CCCTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTG TGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGAC ACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGA GTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAG AACTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTG GGCGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGT CGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTG CTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGG ACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCT GTGGACACTGCGAGTGTGAGAACTGGGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0010 a0001c0001t0038g0010	1	366	0.0027	577	c.-19 others(598): Show c.-190+10582_-190+10583insAGTGTGAGAACTGGGTGTCGGTGC TGGGACCCTGTAGACACTGAGTGTGAGAACTGGGCGTCGGTGCTGGGACC CTGTGGACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTG GACACTGCGAGTGTGAGAACTGGGTGTCGGTGCTGGGACCCTGTAGACAC TGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACACTGTGAGT GTGAGAACTGGGTGTCGGTGCTGGGACCCTGTGGACACTGAGTGTGAGAA CTGGGCGTTGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGG CGTCGGTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCG GTGCTGGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCT GGGACCCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGAC CCTGTGGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGT GGACACTGCGAGTGTGAGAACTGGGCGTCGGTGCTGGGACCCTGTGGACA CTG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCID2_chr13_113172536_113213669	113176446	A A	ACCCGACA others(570): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCTGGGTGTGGTGGCACATGCC TGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAA CTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTC ACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGT GGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCC AGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCC TTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCA CTTTGGGAGGCTGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	414	0.0024	577	c.17 others(588): Show c.1751_*1752insGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGA CAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTT CTGTCGGGGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGGGTGACAGG CATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGT CGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGACAGGCATG TGCCACCACACCCAGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGG GCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTGACAGGCATGTGC CACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGGGCA ATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGTGACAGGCATGTGCCACC ACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTCTGTCGGG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding		1089		chr13	TogoVar
PCID2_chr13_113172536_113213669	113176508	C C	CCCAGCAC others(570): Show CCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTG GCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCC AGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCC TTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCA CTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGT AAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTT GGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGA GGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCCAGCACTTTGGG AGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGA AGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGC CGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAG AGCCGGGTGTGGTGGCACATGCCTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG04199.hp1 NA19065.hp2 HG01074.hp1 HG04199.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0006 a0001c0001t0001g0046	3	414	0.0073	577	c.16 others(588): Show c.1689_*1690insTGACAGGCATGTGCCACCACACCCGGCTCTCTTC CTCTTACAAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCC CAAAGTGCTGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCT TACAAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAA GTGCTGGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTAC AAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTG CTGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGG CCACAGTTCTGTCGGGGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTG ACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGT TCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGG	PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding		1027		chr13	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(570): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCAT CTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTC CCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCT CCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCACCTCCCCCCGCACCC TGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCC TCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCT CATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCAC CTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	360	0.0028	577	c.35 others(588): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCACCCTTACCC TGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTC GCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTC CACGCCCCCTCACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCA CCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCAT CTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTC CCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCT CCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(570): Show AGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCC TCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	422	0.0024	577	c.-47 others(594): Show c.-47-2124_-47-2123insAGCCGGGCAGAGGCGCCCCTCACCTCCC AGGCGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(570): Show AGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGCCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0054	1	422	0.0024	577	c.-47 others(594): Show c.-47-2124_-47-2123insAGCCGGGCAGAGGCGCCCCTCACCTCCC AGGCGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGCCGCCCCTCACCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(570): Show AGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC AGCCGGGCAGAGGCGCCCCTCACCTCCCAGGCGGGGCGGCTGGCCAGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02976.hp2 HG03041.hp2 others(6): Show HG01243.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp1 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0030 others(5): Show a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0003g0030 a0001c0001t0003g0053 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058	9	422	0.0213	577	c.-47 others(594): Show c.-47-2124_-47-2123insAGCCGGGCAGAGGCGCCCCTCACCTCCC AGGCGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGTCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(570): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGT GTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAG TCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCAC TGAGTCTGGGGGGGGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0020 a0020	a0020c0144 a0020c0144	a0020c0144t0001 a0020c0144t0001	a0020c0144t0001g0273 a0020c0144t0001g0273	1	282	0.0036	577	c.299 others(592): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCCCCCAGACTCAGTGCATCCCCACGCCCCCCCCCCCCCCAGACTCAGT GCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACT CAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGAC TCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACA CCCCCCCCCCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGAC TCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACA CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCA TGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAGA others(570): Show GACAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGAA GAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAA GAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAA GAAGAAGAAGGAAGAAGAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGG AAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAG AAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAG AAGAAGGAAGAAGAAGGAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGA AAGAAAGAAGAAAGAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAG GAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGG AAGAAGAAGAAGGAAGAAGAACGAAGGAAGAAGGAAGAAGAAGAAGGAAG AAGAAGAAGGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	188	0.0053	577	c.147 others(596): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCGTTCTTCTTCCTTCTTCTTC TTCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCT TCCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTCCTTCTTCTTCCTTC TTCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCC TTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTC TTCCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCCTT CTTCTTCTTTCTTCCTTCTTTTTCTTCCTTCTTTTCTTCTTCCTTCTTCT TCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCT TCTTTCTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCT TCTTCCTTCTCCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTG T	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PROZ_chr13_113153648_113177386	113176446	A A	ACCCGACA others(570): Show ACCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGAC AGAACTGTGGCCTTGTAAGAGGAAGAGAGCTGGGTGTGGTGGCACATGCC TGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAA CTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTC ACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGT GGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCC AGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCC TTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCA CTTTGGGAGGCTGAGGCGGGGGAATTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	378	0.0027	577	c.43 others(588): Show c.4341_*4342insCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGA GCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGG CGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCG GGTGTGGTGGCACATGCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGG GGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCTGGGT GTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGA ATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGG TGGCACATGCCTGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTG CCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGC ACATGCCTGTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGC	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4061		chr13	TogoVar
PROZ_chr13_113153648_113177386	113176508	C C	CCCAGCAC others(570): Show CCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTG GCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCC AGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCC TTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCA CTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGT AAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTT GGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGA GGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCCAGCACTTTGGG AGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGA AGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGC CGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAG AGCCGGGTGTGGTGGCACATGCCTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG04199.hp1 NA18747.hp2 HG01074.hp2 HG04199.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0119	3	378	0.0079	577	c.44 others(588): Show c.4403_*4404insCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGC CCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCA CATGCCTGTCACCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCC GACAGAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACAT GCCTGTCACCCAGCACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACA GAACTGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCT GTCACCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAAC TGTGGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCA CCCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGT GGCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCC AGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCC TTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4123		chr13	TogoVar
RASA3_chr13_113972783_114137623	114099914	A A	ACAGCCCC others(570): Show ACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCCCCCACAGCAGCCCCC CCACATCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCA CAGCCCCCCACAGCCCCCACATCAGCCCCCCCACATCAGCCCCCCCACAG CCCCCCACAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCACAG CCCCCCCACATCAGCCCCCCCACATCAGCCCCCCCACAGCCCCCACAGCC CCCACAGCCCCCCACAGCCCCCCACAGCCCCCACAGCAGCCCCCCCACAT CAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCC CCCACAGCCCCCACATCAGCCCCCCCACATCAGCCCCCCCACAGCCCCCC ACAGCCCCCCCACAGCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCC ACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGC CCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGCCCCCA CAGCAGCCCCCCCACAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0053 a0004c0006t0002g0053	1	67	0.0149	577	c.56- others(594): Show c.56-26078_56-26077insCTGTGGGGGGGCTGTGGGGGGGCTGCTG TGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGG GCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGCTGTGGGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGT GGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGATGTGGGGGCTGTGGG GGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTG ATGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTGTGGG GGCTGTGGGGGCTGTGGGGGGGCTGATGTGGGGGGGCTGATGTGGGGGGG CTGTGGGGGGCTGTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGG CTGTGGGGGGGCTGATGTGGGGGGGCTGATGTGGGGGCTGTGGGGGGCTG TGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGATGTGG GGGGGCTGCTGTGGGGGCTGTGGGGGCTGTGGGGGGCTGTGGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(570): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTG TGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGG GTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTG GGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0011 a0006c0045t0011	a0006c0045t0011g0202 a0006c0045t0011g0202	1	292	0.0034	577	c.261 others(594): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTG AGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTG AGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTG GGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGG GTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(570): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GAGTGAGTGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGG GGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCT GGGGGGTGAGTGGGGTGAGTGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0102 a0002c0027t0001g0102	1	292	0.0034	577	c.261 others(594): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGG TGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGTGAGTGT GGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGT GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTG AGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGA GTGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGG GTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(570): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCGCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	150	0.0067	577	c.77- others(594): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCGCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCT CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	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(570): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCGCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0085	1	158	0.0063	577	c.22+ others(594): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCGCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCT CCCCATCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCT CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(570): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTGTATATA TACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAATAT ATATACATATGTTTTATATGTATATATACATATAAAATATATATACATAT GTTTTATATGTATATATATACATATAAAATATATATACATATAAAATATA TACATATAAAATATATATACATATGTTTTATATGTATATATACATATAAA ACATATATACATATGTTTTATATGTATATATACATATAAATATATATACA TATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	300	0.0033	577	c.626 others(594): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATGT TTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTGTATATATACACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAAATATATAT ACATATGTTTTATATGTATATATACATATAAAATATATATACATATGTTT TATATGTATATATATACATATAAAATATATATACATATAAAATATATACA TATAAAATATATATACATATGTTTTATATGTATATATACATATAAAACAT ATATACATATGTTTTATATGTATATATACATATAAATATATATACATATG TTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SNX9_chr6_157818246_157950077	157827203	A A	AACATATA others(570): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	302	0.0033	577	c.12+ others(592): Show c.12+3961_12+3962insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827319	A A	AACATATA others(570): Show AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAG TTTATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	302	0.0033	577	c.12+ others(592): Show c.12+3961_12+3962insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827348	A A	AACATATA others(570): Show AACATATATTATAGTTTATATAATATATAAACATGTATTATAGTTTATAT AATATATAAACATGTATTATAGTTTATATAATATATAAACATGTATTATA GTTTATATAATATATAAACATGTATTATAGTTTATATAATATATAAACAT GTATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATAC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	302	0.0033	577	c.12+ others(592): Show c.12+3935_12+3936insGTATTATAGTTTATATAATATATAAACATG TATTATAGTTTATATAATATATAAACATGTATTATAGTTTATATAATATA TAAACATGTATTATAGTTTATATAATATATAAACATGTATTATAGTTTAT ATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATA GTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATAAACAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(570): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01169.hp1 HG01928.hp1 others(9): Show HG00423.hp1 HG01169.hp1 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 NA18951.hp1 NA18967.hp2 NA19088.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0002c0003t0003	a0001c0001t0001g0081 a0001c0001t0002g0216 a0001c0001t0002g0286 others(9): Show a0001c0001t0001g0081 a0001c0001t0002g0216 a0001c0001t0002g0286 a0001c0001t0006g0220 a0001c0002t0001g0107 a0001c0002t0001g0136 a0001c0002t0001g0141 a0001c0002t0003g0332 a0001c0002t0007g0138 a0001c0002t0008g0310 a0001c0002t0008g0315 a0002c0003t0003g0333	12	364	0.0330	577	c.157 others(596): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTC TCCCCGTTCCCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCG TTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCA CCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCT CCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCC C	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(570): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGAG AACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAA CGGGGAGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACG GGGAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGG GAGAGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(11): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01358.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03831.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0032 a0002c0003 a0001c0001 a0001c0032 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0026 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0026 a0001c0032t0022 a0002c0003t0001	a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0195 others(11): Show a0001c0001t0001g0030 a0001c0001t0001g0071 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0213 a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0021 a0001c0001t0026g0214 a0001c0032t0022g0184 a0002c0003t0001g0170 a0002c0003t0001g0171	14	364	0.0385	577	c.157 others(596): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTC TCCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTC CCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCC CGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCTCACCCCG TTCTCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCA CCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCT CCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCC C	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(570): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGGG AACGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAA CGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG00609.hp2 others(52): Show HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG01361.hp2 HG01928.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02965.hp2 HG03041.hp2 HG03654.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0023 others(2): Show a0001c0001 a0001c0002 a0001c0023 a0001c0027 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0017 a0001c0002t0018 a0001c0023t0002 a0001c0027t0001 a0002c0003t0007	a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0057 others(52): Show a0001c0001t0001g0028 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0194 a0001c0001t0002g0224 a0001c0001t0002g0233 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0258 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0003g0312 a0001c0001t0003g0320 a0001c0001t0003g0337 a0001c0001t0013g0129 a0001c0001t0027g0227 a0001c0002t0001g0038 a0001c0002t0001g0077 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0112 a0001c0002t0001g0135 a0001c0002t0002g0252 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0294 a0001c0002t0003g0347 a0001c0002t0007g0040 a0001c0002t0007g0046 a0001c0002t0007g0099 a0001c0002t0007g0114 a0001c0002t0017g0274 a0001c0002t0018g0275 a0001c0023t0002g0230 a0001c0027t0001g0036 a0002c0003t0007g0078	55	364	0.1511	577	c.157 others(596): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCG TTCCCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCA CCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCT CCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCC C	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(570): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGAGAACGG GGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGGTGGGAGAACGGGG TGGGGGTGGGAGGGGGTGGGAGAACGGGGTGGGAGCGAGGTGGGAGAACG GGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGGGTGAGAGCGGGGTGGGGG AATGGGGAGAGAGCGGGGTGGGGGAACGGGGAGGGAGCGGGGTGGGGGAA CGGGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACG GGGTGGGAGCGGGGTGGGGGAACGGGGAGAGAGCGGGGTGGGGGAACGGG GTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGT GGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGG GAGCGGGGTGGGAGCGGGGTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0219 a0001c0002t0006g0219	1	364	0.0028	577	c.157 others(596): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGC TCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTC CCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCC ACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCAC CCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCACCCCGCTCCCACCC CGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCCCGCTCTCTCCCCA TTCCCCCACCCCGCTCTCACCCCCACCCCGCTCTCCCACCCCGCTCTCAC CCCGTTCTCCCACCTCGCTCCCACCCCGTTCTCCCACCCCCTCCCACCCC CACCCCGTTCTCCCACCCCTCCCACCCTGCTCTCCCACCCCGCTCTCCCA CCCCGTTCTCCCACCCCGCTGTCCCACCCCGCTCTCACCCCGTTCTCCCA CCCCGCTCCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCT CCCACCCCCACCCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCC C	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
THBS2_chr6_169210785_169258846	169242718	T T	TTCCCACC others(570): Show TTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCT TCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCAC TCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTT CCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCACTGCT CCCACCTTCCCACCTTCCCACATTCGCACCTTCCCACCTTCCCACATTCC CACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCACTCC CACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCC ACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCA CTGCTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCACTCCCA CCTTCCCACCTTCCCACCTTCCCACCGC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG01496.hp1 others(20): Show HG00639.hp1 HG00738.hp2 HG01496.hp1 HG01928.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02132.hp2 HG02165.hp2 NA18969.hp2 NA18975.hp1 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18994.hp2 NA19002.hp1 NA19056.hp1 NA19066.hp1 NA19068.hp1 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0008 a0001c0003 a0001c0004 a0001c0008	a0001c0003t0002 a0001c0003t0024 a0001c0003t0025 others(4): Show a0001c0003t0002 a0001c0003t0024 a0001c0003t0025 a0001c0004t0001 a0001c0004t0004 a0001c0004t0033 a0001c0008t0006	a0001c0003t0002g0001 a0001c0003t0002g0048 a0001c0003t0002g0259 others(15): Show a0001c0003t0002g0001 a0001c0003t0002g0048 a0001c0003t0002g0259 a0001c0003t0002g0262 a0001c0003t0002g0263 a0001c0003t0002g0267 a0001c0003t0002g0268 a0001c0003t0002g0269 a0001c0003t0002g0270 a0001c0003t0002g0282 a0001c0003t0024g0260 a0001c0003t0025g0265 a0001c0004t0001g0264 a0001c0004t0001g0281 a0001c0004t0004g0271 a0001c0004t0033g0247 a0001c0008t0006g0253 a0001c0008t0006g0266	23	396	0.0581	577	c.695 others(592): Show c.695-761_695-760insGCGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGCAGTG GGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAAGGTGCGAATGTGGGAAGGTGGGAAGGTGGGAG CAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAA GGTGGGAAGATGGGAGCACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGT GGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAG ATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377080	C C	CTCTGTAC others(570): Show CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCT CTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGC CTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTGTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0317 a0002c0002t0003g0317	1	370	0.0027	577	c.-11 others(588): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACA GGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACACAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGG TGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTG GGTGGGGCACACGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar
TMEM242_chr6_157284025_157328519	157312036	A A	ACCTACCC others(570): Show ACCTACCCTCATCATAGTGCCCCACTGTGCACTCAACCGGCCTCATCATA GTGTCCCAGTGTGCGCTCACCTAGCCTCATCTTAGTGTTCCAGTGTGCAC TCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTAATGA TAGTATCCCAGTGTGCACTCACCCGGAATCATCATAGTGTCCCAGTGTGC GCTCACCTAGCTTCATCATAATGCCCCAGTGTGAACTCAACTAGCCTCAT CATAGTGCCCCAGTGTGCACTCACCTAGACTCATCATATTACCCCAGTGT GCATTCACCTGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAACCCC ATCATAGTGCCCCAGTGTGCTCTCACCTAGCCAAATCATACTGTCCCAGT GTGCACTCACCTAGCCCCATCATAGTGTCCCAATGTGCGCTCACACAGCC TGATCATAGTGTCCGACTGTGCGCTCACCTAGCCTCATCATAGTGTCCCA GTGTGCACTCACCTAGCCTCATCATAGTGCCCCCGTGTGCACACACCGAG CCTCATTATAGTGTCCCAGTGTGTGCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	344	0.0029	577	c.327 others(594): Show c.327+6745_327+6746insGAGCACACACTGGGACACTATAATGAGG CTCGGTGTGTGCACACGGGGGCACTATGATGAGGCTAGGTGAGTGCACAC TGGGACACTATGATGAGGCTAGGTGAGCGCACAGTCGGACACTATGATCA GGCTGTGTGAGCGCACATTGGGACACTATGATGGGGCTAGGTGAGTGCAC ACTGGGACAGTATGATTTGGCTAGGTGAGAGCACACTGGGGCACTATGAT GGGGTTAGGTGAGCGCACACTGGGACACTATGATGAGGCCAGGTGAATGC ACACTGGGGTAATATGATGAGTCTAGGTGAGTGCACACTGGGGCACTATG ATGAGGCTAGTTGAGTTCACACTGGGGCATTATGATGAAGCTAGGTGAGC GCACACTGGGACACTATGATGATTCCGGGTGAGTGCACACTGGGATACTA TCATTAGGCTAGGTGAGTGCACACTGGGGCACTATGATGAGGCTAGGTGA GTGCACACTGGAACACTAAGATGAGGCTAGGTGAGCGCACACTGGGACAC TATGATGAGGCCGGTTGAGTGCACAGTGGGGCACTATGATGAGGGTAGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930923	C C	CAGGGGTT others(570): Show CAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGA CCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGACCAAGGGTC AGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAAGGAGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	466	0.0022	577	c.46 others(588): Show c.4667_*4668insAGCCTCCTTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACC CCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC TTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAA CCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCC TCCCTAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4446		chr11	TogoVar
VEGFB_chr11_64229584_64244264	64237081	C C	CGAGAGAG others(570): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGATGAGAGGGAGAGGGAGAGAGGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGGGATGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGAGAGGAGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGGAGAGGGGAGAGAGGGAGG AGAGGGAGAGAGGGAGAGAGGGGAGAGAGGGAGAGAGGGGAGAGAGGGGA GAGAGGGAGAGAGGGAGAGAGGAGAGAGGGAGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGAGGGAGAGAGG GAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGA GGAGGGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	328	0.0031	577	c.375 others(592): Show c.375-106_375-105insGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGATGAGAGGGAGAGGGAGAGAGGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAG AGGGATGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGAGAGGAGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGG GAGAGGGGAGAGAGGGAGGAGAGGGAGAGAGGGAGAGAGGGGAGAGAGGG AGAGAGGGGAGAGAGGGGAGAGAGGGAGAGAGGGAGAGAGGAGAGAGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGGAGAGGGAGAGAGGGAGAG AGGGAGAGAGGGAGAGAGGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGA GGGAGAGGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAG GGAGAGAGGGAGAGAGGGAGGAGGGAGAGAGAGAGAGAGAGAGAGAG	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VSIG4_chrX_66016738_66045080	66037064	T T	TATAATAA others(570): Show TATAATAATATAATATAATATAAAATATATATAATATATATAATATATAT AATATAATATAATGCAATATATAATAATTATATAATATAATATATAATAT ATAATATATATTATATATTATATATAATATATATTATATATTATATATAA TAATATAATATATAATATACATTATATAATAATATAATATATAATATACA TTATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACA TATATTATATAATAATAATATAATATATATTATATAATTAATATAATATA TAATATATATTATATAATAATAATATAAGATATATTATATAATTAATATA ATATATAATATATATTATATAATTAATATAATATATAATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATTAGAATTTA TATTATACAATAATAATATAATATATATTATACAATAATAATATAATATA TATATAATTATATAATATAATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02976.hp2 HG02615.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0033 a0001c0001t0005g0034	2	218	0.0092	577	c.55+ others(592): Show c.55+2879_55+2880insTATATATATTATATTATATAATTATATATA TATTATATTATTATTGTATAATATATATTATATTATTATTGTATAATATA AATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAAT ATATATTATATACTATATTATATAATTATTATATATATTATATTATTATT ATATAATATATTATATATTATATTAATTATATAATATATATTATATATTA TATTAATTATATAATATATCTTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATATTATATTATTATTATATAATATATG TTATATATTACATTATTATTATATAATATACATTATATTATTATATAATG TATATTATATATTATATTATTATATAATGTATATTATATATTATATTATT ATATATAATATATAATATATATTATATATAATATATAATATATATTATAT ATTATATATTATATTATATAATTATTATATATTGCATTATATTATATTAT ATATATTATATATATTATATATATTTTATATTATATTATATTATTAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
YBEY_chr21_46281342_46302751	46293401	C C	CGGTTAGC others(570): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCA CGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	404	0.0025	577	c.339 others(594): Show c.339+1953_339+1954insATGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCG TGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAA ACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAG ATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAG TCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294289	C C	CGGTTAGC others(570): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCA CGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	404	0.0025	577	c.340 others(594): Show c.340-1841_340-1840insGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACA CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT GGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAA CTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(570): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	246	0.0041	577	c.-10 others(594): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ABR_chr17_998519_1184981	1052698	T T	TTCACAGG others(571): Show TTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACA GGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCA GAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGA GGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGTCAGAGGGAGGGTTC GAGAAGGGGCTGGGGGAGGACTCACAGGGTCAGAGGGAGGGTTCCGGAAG GGGCTGGGGGAGGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTG GGGGACGGCTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAG GGTTCACAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCA CAGGGTCAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGTTCACAGGGT CAGAGGGAGGGTTCCGGAAGGGGCTGGGGGAGGGCTCACAGGGTCAGGGT CAGAGGGAGGGTTCGAGAAGGGGCTGGGGGAGGACTCACAGGGTCAGAGG GAGGGTTCCGGAAGGGGCTGGGGGAGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0070 a0001c0002t0053g0070	1	337	0.0030	578	c.156 others(597): Show c.1562-2065_1562-2064insGCCCTCCCCCAGCCCCTTCCGGAACC CTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTTCTCGAACCCTCCCT CTGACCCTGACCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCT CTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACC CTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGA ACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCGTC CCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGCCCTCCCCCAG CCCCTTCCGGAACCCTCCCTCTGACCCTGTGAGTCCTCCCCCAGCCCCTT CTCGAACCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAA CCCTCCCTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCC CTCTGACCCTGTGAACCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGA CCCTGTGAGCCCTCCCCCAGCCCCTTCCGGAACCCTCCCTCTGACCCTGT GA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACTRT2_chr1_3016467_3027903	3016686	A A	AGGGACGG others(571): Show AGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGGGAGGG AGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGG AGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGA GGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGAGGGAGGAGGGAGGGA GGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAA AGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGAT GGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGT AGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGG AAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAG GAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGA GGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGA GGATGGTGGGAGGGAGGGAGGGGGGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	1	366	0.0027	578	c.-50 others(589): Show c.-5001_-5000insGGGACGGAGGGAGGAGGGAGGAAGGGAAGGAGGG AGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAGAGA GGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGA AGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAGGGAGGGA GGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGA AGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGAGAGAAAA TGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAAGGAAGGA GGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGAGAAAGGG AAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGGCAGGAGG AGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGAGCAGGAG GAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGGAAGCGAG GAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGAAGC	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4780		chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(571): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTCATCCATCCACCCATCCATTCATCCATTCACCCACCCATTTA CCTACCCATTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATAT ACCCACCCACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCAT TCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATT CACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20300.hp1 HG03225.hp2 NA20300.hp1	a0004 a0051 a0004 a0051	a0004c0005 a0051c0020 a0004c0005 a0051c0020	a0004c0005t0099 a0051c0020t0002 a0004c0005t0099 a0051c0020t0002	a0004c0005t0099g0085 a0051c0020t0002g0007 a0004c0005t0099g0085 a0051c0020t0002g0007	2	262	0.0076	578	c.775 others(593): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGG GTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTG GAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGG TGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar

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Search Results (Total: 10000 hits)