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
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(503): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	510	c.-42 others(521): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(503): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	510	c.-42 others(521): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531242	C C	CAGGGCAG others(503): Show CAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTG GGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGG AGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAC AGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACAGCT GAAGGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCA GGCACGGCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0036 a0011c0012t0001g0036	1	398	0.0025	510	c.-43 others(521): Show c.-4343_-4342insTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCTCTGCCCTGTGCCCTTCAGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGC TGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCT GCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCTCTGCCCT	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4210		chr8	TogoVar
LUC7L_chr16_183990_234449	186476	G G	GGAGGAAC others(503): Show GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGAG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACG GAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	350	0.0029	510	c.27 others(521): Show c.2721_*2722insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGT TCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCTCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2513		chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579325	C C	CCACCACC others(503): Show CCACCACCACCATCACCACCACCACCATCACCACCATCACCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCACC ACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0310 a0001c0001t0004g0310	1	362	0.0028	510	c.391 others(525): Show c.391+838_391+839insTCACCACCACCACCATCACCACCATCACCA TCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCATCACCATCACCACCACCACCATCACCACCA TCACCACCACCACCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(503): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	191	0.0052	510	c.343 others(527): Show c.343-4372_343-4371insGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(503): Show TATATATATTCATATATATATATTCATATATATATATTCATATATAGATT CATATATATTCATATATAGATTCATATATATTCATATATAGATTCATATA TATTCATATATAGATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATT CATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	191	0.0052	510	c.343 others(527): Show c.343-4372_343-4371insGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATCTATATATGAATATATATGAATCTATATAT GAATATATATGAATCTATATATGAATATATATGAATCTATATATGAATAT ATATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(503): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATATTCATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATTCATATATATATT CATATATATTCATATATTCATATATATATTCATATATATTCATATATATT CATATATATATTCATATATATATATATTCATATATATATTCATATATACA TATATATATTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0139 a0001c0001t0011g0139	1	191	0.0052	510	c.343 others(527): Show c.343-4412_343-4411insGAATATATATATGTATATATGAATATAT ATATGAATATATATATATATGAATATATATATGAATATATATGAATATAT ATGAATATATATATGAATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATATGAATATATATATGAATAT ATATATGAATATATATGAATATATATGAATATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATGAAT ATATATATGAATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATCTATATATGAATATATATGAATCT ATATATGAATATATATGAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTTGAGA others(503): Show TTTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTAC GATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGG GTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCT GGTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAG TGCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTT TCTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGG AAATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTAC AAGATAACAAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAAT CACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGT TTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0026 a0026	a0026c0030 a0026c0030	a0026c0030t0004 a0026c0030t0004	a0026c0030t0004g0165 a0026c0030t0004g0165	1	176	0.0057	510	c.753 others(527): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTTGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTCAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTTGAGA others(503): Show TTTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTAC GATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGG GTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCT GGTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAG TGCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTT TCTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGG AAATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTAC AAGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAAT CACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGATTTGTTTTTTGT TTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	176	0.0057	510	c.753 others(527): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAATCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTCAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314931	T T	TTTTGAGA others(503): Show TTTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTAC GATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGG GTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCT GGTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAG TGCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTT TCTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGG AAATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTAC AAGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAAT CACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGT TTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG00741.hp2 others(24): Show HG00621.hp1 HG00738.hp1 HG00741.hp2 HG01081.hp1 HG01261.hp2 HG01515.hp2 HG02015.hp1 HG02074.hp2 HG02132.hp1 HG02559.hp2 HG02698.hp1 HG02717.hp2 HG02895.hp2 HG02970.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG06807.hp2 NA18952.hp2 NA18957.hp2 NA18970.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0017 a0022 a0024	a0001c0001 a0002c0002 a0003c0003 others(8): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0005 a0009c0010 a0009c0032 a0017c0017 a0022c0024 a0024c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0019 a0003c0003t0003 a0004c0004t0023 a0006c0006t0003 a0007c0005t0001 a0007c0005t0009 a0009c0010t0002 a0009c0010t0007 a0009c0032t0011 a0017c0017t0001 a0022c0024t0003 a0024c0021t0003	a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 others(24): Show a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0002g0004 a0001c0001t0002g0054 a0001c0001t0002g0090 a0001c0001t0010g0131 a0002c0002t0001g0001 a0002c0002t0001g0039 a0002c0002t0002g0144 a0002c0002t0005g0171 a0002c0002t0019g0158 a0003c0003t0003g0059 a0003c0003t0003g0084 a0004c0004t0023g0169 a0006c0006t0003g0029 a0007c0005t0001g0048 a0007c0005t0001g0053 a0007c0005t0001g0073 a0007c0005t0009g0176 a0009c0010t0002g0127 a0009c0010t0007g0159 a0009c0032t0011g0152 a0017c0017t0001g0153 a0017c0017t0001g0154 a0022c0024t0003g0058 a0024c0021t0003g0027	27	176	0.1534	510	c.753 others(527): Show c.753+3136_753+3137insCAAACAAACAAACAAAAAACAAACCAAA AAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGATTATTGTCC TAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAGAAGCAAGA ATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCTCATCCAAA AATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAGATACTGGC CAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCCAAGGC GGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACCAACACGGA GAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATGGTGGTGCA TGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCTCTTGAA CCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTGTACTCCAG CCTGGGCAACAAGAGTGAAATTCTGTCTCAAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(503): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp1 HG00609.hp2 others(44): Show HG00140.hp2 HG00609.hp1 HG00609.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01346.hp1 HG01433.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG02015.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp1 HG03225.hp2 HG03490.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18954.hp2 NA18957.hp1 NA18963.hp1 NA18966.hp2 NA18971.hp2 NA18994.hp2 NA18997.hp2 NA19003.hp2 NA19004.hp1 NA19080.hp2 NA19091.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0006 a0004c0004 others(2): Show a0001c0001 a0002c0006 a0004c0004 a0004c0009 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0006t0001 a0004c0004t0001 a0004c0009t0001 a0008c0011t0001	a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 others(44): Show a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0271 a0001c0001t0002g0183 a0002c0006t0001g0174 a0004c0004t0001g0105 a0004c0004t0001g0160 a0004c0004t0001g0161 a0004c0004t0001g0164 a0004c0009t0001g0168 a0004c0009t0001g0169 a0004c0009t0001g0170 a0008c0011t0001g0069 a0008c0011t0001g0070 a0008c0011t0001g0074	47	288	0.1632	510	c.483 others(525): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MEX3D_chr19_1549672_1573325	1549710	G G	GCCTCGCT others(503): Show GCCTCGCTACACCATGGACTCCGGGGACATACATGACCTCACTGCCAGCC TCACCTACTCATGCCATGGCTCCTTAGCTCACCCATGCGGGACTACCTGC CATCCATGACTGCATCCCTACCCAGCCATGATCAGTCACCTACCCACGCC TGCCATGCCTGGCGCCATTCGTCCAACTGCACACACTGCCCTTCCTCCAC ATGACGACCTACCTGCATTGGCCTCCACCATCAATCTCAGCTCACGCCAA GCCACACTCCTGCCTGCCTGCCCATCCATGCCATGCCATGCCATCTGCCA TGCCTGGATGCCATAGCAGCCACTCGAGCCAGGGCTCATCCAGACCTGCC TCGACCACAACAGCCTCCCGGGATCCATGGCACTCATGCCACCATGCATG CCATCGCTGCCATCCATGCAAGCTGCATGCCAACCATCCACCAATCCCGC CCTGCCACTACCTCCAGCCATCCTCCATGGCCTCACCTGCCAACCATGGC CATGCATCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0013	1	372	0.0027	510	c.58 others(521): Show c.5852_*5853insGTGGATGCATGGCCATGGTTGGCAGGTGAGGCCA TGGAGGATGGCTGGAGGTAGTGGCAGGGCGGGATTGGTGGATGGTTGGCA TGCAGCTTGCATGGATGGCAGCGATGGCATGCATGGTGGCATGAGTGCCA TGGATCCCGGGAGGCTGTTGTGGTCGAGGCAGGTCTGGATGAGCCCTGGC TCGAGTGGCTGCTATGGCATCCAGGCATGGCAGATGGCATGGCATGGCAT GGATGGGCAGGCAGGCAGGAGTGTGGCTTGGCGTGAGCTGAGATTGATGG TGGAGGCCAATGCAGGTAGGTCGTCATGTGGAGGAAGGGCAGTGTGTGCA GTTGGACGAATGGCGCCAGGCATGGCAGGCGTGGGTAGGTGACTGATCAT GGCTGGGTAGGGATGCAGTCATGGATGGCAGGTAGTCCCGCATGGGTGAG CTAAGGAGCCATGGCATGAGTAGGTGAGGCTGGCAGTGAGGTCATGTATG TCCCCGGAGTCCATGGTGTAGCGAGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4961		chr19	TogoVar
MFSD3_chr8_144504070_144516213	144513791	C C	CGTGGGGA others(503): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0001 a0011c0013t0001	a0011c0013t0001g0004 a0011c0013t0001g0004	1	400	0.0025	510	c.26 others(521): Show c.2627_*2628insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCG	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2579		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(503): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	510	c.26 others(521): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(503): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG AGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGG CGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	510	c.26 others(521): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGG AGGGGTCGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(503): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGT GGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	510	c.26 others(520): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(503): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTAGGGGAGTGTGGT TGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGG TTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTG TTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGGGGAGTG TGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGAGTGT GGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGGGGAGTG TGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGATG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0012 a0004c0006t0012	a0004c0006t0012g0100 a0004c0006t0012g0100	1	360	0.0028	510	c.57+ others(527): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTAGGGGAG TGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGG AGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAGTGTGGTTGAGGG GGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGG GAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGGGAGTGTGGTTGATGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MINK1_chr17_4828340_4903061	4852769	T T	TGGGGGAG others(503): Show TGGGGGAGTGTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTT GGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGA TTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGGAGTGTG GTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGT GGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTG TGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGA GTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGGGTGGAG TGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGGGGGAGT GTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGGGGAGTG TGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAG TGTGGTTGATG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0101 a0001c0001t0008g0101	1	360	0.0028	510	c.57+ others(527): Show c.57+19144_57+19145insGTGGGGGGAGTGTGATTTGTGGGGGAGT GTGGTTGGTGGGGGGAGTGTGATTTGTGGGGGAGTGTGGTTGGTGGGGGA GTGTGATTGGTGGGGGAGTGTGGTTGGTAGGGGAGTGTGGTTGGTGGGGG AGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTGGGG GAGTGTGGTTGGTGGGGGAGTGTGTTTGGTGGGGGAGTGTGGTTGGTGGG GGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGTGGGGGGAGTGTGGTTGGT GGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGGGGAGTGTGGTTGATGG GTGGAGTGTGGTTGAGGGGGAGTGTGGTTGAGGGGGAGTGTGGTTGGTGG GGGAGTGTGGTTGGTGGGGAGTGTGGTTGGTGGGGCAGTGTGGTTGATGG GGAGTGTGGTTGATGGGGGGAGTGTGGTTGGTGGGGGAGTGTGGTTGGTG GGGGAGTGTGGTTGATGGGGGGAGTGTGGTTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar
MTTP_chr4_99569824_99628997	99588984	T T	TATATATG others(503): Show TATATATGTTCATATATATACTCATATATATATGTTCATGTATATTCATA TATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATA TATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATA TATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0177 a0002c0002t0002g0177	1	364	0.0028	510	c.394 others(525): Show c.394-653_394-652insGTTCATATATATACTCATATATATATGTTC ATGTATATTCATATATATATGTTCATATATATATTCATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(503): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0294 a0002c0002t0002g0294	1	364	0.0028	510	c.394 others(525): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(503): Show ATATATATATGTTCATGTATATTCATATATATATGTTCATATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0050 a0004c0004t0001g0050	1	364	0.0028	510	c.394 others(525): Show c.394-608_394-607insTATATATATGTTCATGTATATTCATATATA TATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690733	T T	TATATATA others(503): Show TATATATATTTATATATAAGTATATATATATTTATATATAAATATATATA TAAATATATATATTTATATATAAGTATATATATATTTATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATAAATATATATATTTA TATATAAGTGTATATATATTTATATATACGTATATATAAATATATATATT TATATATACGTATATATAAATATATATATTTATATATACGTATATATATA AATATATATATTTATATATACGTATATATAAATATATATATTTATATATA TACGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATA TATTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0129 a0001c0002t0023g0129	1	326	0.0031	510	c.358 others(527): Show c.358+3476_358+3477insTATATAAGTATATATATATTTATATATA AATATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TAAGTATATATATAAATATATATATTTATATATAAGTATATATATAAATA TATATATTTATATATAAGTGTATATATATTTATATATACGTATATATAAA TATATATATTTATATATACGTATATATAAATATATATATTTATATATACG TATATATATAAATATATATATTTATATATACGTATATATAAATATATATA TTTATATATATACGTATATATAAATATATATATTTAAATATAAGTATATA TAAATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATA TAAGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAA others(503): Show TAATATAATATATATAAATATATAATATATATAATATATATTATATATAA ATATATAATATATATTATATATTATATATATTATAATATATAATATATAT TATATATTATATATATTATAATATATAATATATATAATATATATTATATA TTATATATATATAATATATAATATATATTATATATAAATATATAATATAT AATATATATTATATATATATATAATATATAATATATATTATATATATATA TTATATAATATATAATATATTATATATATTATATAATATATTGTATATTA TATAATATATAATATATAATATATATTATATATAAATATATAATATATAA TATAATATATAATATATTATATATATTATATTATATATATTATATTATAT ATAATATATTATATATTATATATTTATATATAATATATATATAATATATA TTATATAATATATAATATATTATATATTATATAATATATATAATATATTA TATAATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0127 a0003c0005t0001g0127	1	348	0.0029	510	c.48+ others(525): Show c.48+1020_48+1021insAATATAATATATATAAATATATAATATATA TAATATATATTATATATAAATATATAATATATATTATATATTATATATAT TATAATATATAATATATATTATATATTATATATATTATAATATATAATAT ATATAATATATATTATATATTATATATATATAATATATAATATATATTAT ATATAAATATATAATATATAATATATATTATATATATATATAATATATAA TATATATTATATATATATATTATATAATATATAATATATTATATATATTA TATAATATATTGTATATTATATAATATATAATATATAATATATATTATAT ATAAATATATAATATATAATATAATATATAATATATTATATATATTATAT TATATATATTATATTATATATAATATATTATATATTATATATTTATATAT AATATATATATAATATATATTATATAATATATAATATATTATATATTATA TAATATATATAATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(503): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0187 a0002c0010t0001g0187	1	324	0.0031	510	c.140 others(527): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(503): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0263 a0001c0012t0001g0263	1	324	0.0031	510	c.140 others(527): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(503): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGACAGG GAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGAGAG GGGGGAGAGGGAGGGGGCGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGG AGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0329 a0001c0002t0032g0330 a0001c0002t0032g0329 a0001c0002t0032g0330	2	386	0.0052	510	c.92 others(521): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCCCTCTCTCTCTC ACTCCCTTTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCC TCTCCCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCT CCCTCCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCC TCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCC TCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCC TCCCCTCCCGCCCCCTCCCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCC CTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTC CCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCT CCCTGTCCCCCCTCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NXN_chr17_794310_984776	948838	T T	TCTCCCCG others(503): Show TCTCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCGGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGC CTCCTACTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	242	0.0041	510	c.360 others(529): Show c.360+30480_360+30481insGAGAGTAGGAGGCCGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGG GAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952378	G G	GGTCAGAG others(503): Show GGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACC ACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGA ACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCGGCAGG TACCACGGACGGTCACACTGTGGGGGGGGGCTGGAGTCAGACAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGCTGGGGT CAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT GGGGGGCTGGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0042 a0001c0003t0001g0042	1	242	0.0041	510	c.360 others(529): Show c.360+26940_360+26941insTCCAGCCCCCCACAGTGTGACCGTCC GTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCAC AGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGAC TCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGTTCCAAC CTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACC TGCCGGGTTCCAACCTTGGTCTCTCTGACCCAGCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCC CCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTG TCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(503): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATAATCATATTATGACATATATCAT AATATATAATCATATTATGACATATATCATAATATATATTATCATATTAT GACATATATCATAATATATATTATCATATTATGACATATATCATAATATA TATTATCATATTATGACATATATCATAATATATATTATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACATATATCATAATATATATTATCATATTATGACATATA TCATAATATATATTATCATATTATGACATATATCATAATATATATTATCA TATTATGACAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0259 a0001c0001t0010g0259	1	268	0.0037	510	c.116 others(529): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATAATC ATATTATGACATATATCATAATATATAATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATATATTATCATATTATGAC ATATATCATAATATATATTATCATATTATGACATATATCATAATATATAT TATCATATTATGACATATATCATAATATATATTATCATATTATGACATAT ATCATAATATATATTATCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OSGIN1_chr16_83948240_83971332	83950450	C C	CACATGCA others(503): Show CACATGCACGTACATACTGGCACACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACACACACATG CACACATGAGCACATGTGCACACGCACATACATACTGGCACACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACACACATGCACACGTGAGCACATGTGCACACA TGCACATACATACTGGCACACACGTACACGCACACGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACATGTACACACACGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACGTACACGCACACATGAG CACATGTGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0179	1	350	0.0029	510	c.-29 others(521): Show c.-2953_-2952insACATGCACGTACATACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACACATGCACACATGAGCACATGTGCACACGCACATACATAC TGGCACACACGTACACACACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACACACACATGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACACACATGCACACGTGA GCACATGTGCACACATGCACATACATACTGGCACACACGTACACGCACAC GAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACATGTACACAC ACGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACGT ACACGCACACATGAGCACATGTGCAT	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2789		chr16	TogoVar
P2RY8_chrX_1457581_1542185	1473769	A A	ATGGATGG others(503): Show ATGGATGGGTGGGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTG GGTGGATGGGTGGATGCATGGATCAGTGTTTAGATAGGTGGATGTGTGAG TGGATGCATTGATGGTTGATGGGTAGATGGATGGGTGGATGTATAGATGA GTAGGTGGATGGGTGGGTGGATGGATGCGTGGATAGATGGATGAGTGGGT GGATGGATGGATGCATGGATGGGTGGATGGATGGGTGGGTGGATGGGAGG GTGGATGGATGGATGAACTGTAGGTGAGTTTGTGAATGGGTGGGTAGGTG GGTGAATGGGTGGATGGATGAATCCGTGTTTAAATAGGTGGATGTGTGGG TGGATGAATTGATCGGTTGATGGGTAGATGGATGGGTGGATGTCTGGGTG GTTGGATATATAGATGAGTAGGTAGATGGGTGGGTGGATGGATGGGTGAG TAGATGGATGAGTGGGTGGATGGGTGGATGGATGGATGATGAATGGATGG GGATGGGTAGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03195.hp2 others(3): Show HG02622.hp2 HG02897.hp1 HG03195.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0008 a0001c0001 a0001c0004 a0006c0008	a0001c0001t0006 a0001c0001t0024 a0001c0001t0029 others(2): Show a0001c0001t0006 a0001c0001t0024 a0001c0001t0029 a0001c0004t0010 a0006c0008t0005	a0001c0001t0006g0029 a0001c0001t0024g0070 a0001c0001t0029g0054 others(3): Show a0001c0001t0006g0029 a0001c0001t0024g0070 a0001c0001t0029g0054 a0001c0004t0010g0049 a0001c0004t0010g0111 a0006c0008t0005g0051	6	114	0.0526	510	c.-24 others(527): Show c.-24-7188_-24-7187insGCTACCCATCCCCATCCATTCATCATCC ATCCATCCACCCATCCACCCACTCATCCATCTACTCACCCATCCATCCAC CCACCCATCTACCTACTCATCTATATATCCAACCACCCAGACATCCACCC ATCCATCTACCCATCAACCGATCAATTCATCCACCCACACATCCACCTAT TTAAACACGGATTCATCCATCCACCCATTCACCCACCTACCCACCCATTC ACAAACTCACCTACAGTTCATCCATCCATCCACCCTCCCATCCACCCACC CATCCATCCACCCATCCATGCATCCATCCATCCACCCACTCATCCATCTA TCCACGCATCCATCCACCCACCCATCCACCTACTCATCTATACATCCACC CATCCATCTACCCATCAACCATCAATGCATCCACTCACACATCCACCTAT CTAAACACTGATCCATGCATCCACCCATCCACCCACTCACCCATTCACAA ACCCACCCACCATTCATCCACCCACCCATCCA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1473769	A A	ATGGATGG others(503): Show ATGGATGGGTGGGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTG GGTGGATGGGTGGATGCATGGATCAGTGTTTAGATAGGTGGATGTGTGAG TGGATGCATTGATGGTTGATGGGTAGATGGATGGGTGGATGTATAGATGA GTAGGTGGATGGGTGGGTGGATGGATGGGTGGATAGATGGATGAGTGGGT GGATGGATGGATGCATGGATGGGTGGATGGATGGGTGGGTGGATGGGAGG GTGGATGGATGGATGAACTGTAGGTGAGTTTGTGAATGGGTGGGTAGGTG GGTGAATGGGTGGATGGATGAATCCGTGTTTAAATAGGTGGACGTGTGGG TGGATGAATTGATCGGTTGATGGGTAGATGGATGGGTGGATGTCTGGGTG GTTGGATATATAGATGAGTAGGTAGATGGGTGGGTGGATGGATGGGTGAG TAGATGGATGAGTGGGTGGATGGGTGGATGGATGGATGATGAATGGATGG GGATGGGTAGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02809.hp1 others(4): Show HG02451.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02897.hp2 HG03209.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0003t0003 a0001c0003t0005 a0001c0003t0011 a0001c0003t0012	a0001c0001t0003g0066 a0001c0001t0005g0011 a0001c0001t0006g0018 others(4): Show a0001c0001t0003g0066 a0001c0001t0005g0011 a0001c0001t0006g0018 a0001c0003t0003g0030 a0001c0003t0005g0031 a0001c0003t0011g0002 a0001c0003t0012g0001	7	114	0.0614	510	c.-24 others(527): Show c.-24-7188_-24-7187insGCTACCCATCCCCATCCATTCATCATCC ATCCATCCACCCATCCACCCACTCATCCATCTACTCACCCATCCATCCAC CCACCCATCTACCTACTCATCTATATATCCAACCACCCAGACATCCACCC ATCCATCTACCCATCAACCGATCAATTCATCCACCCACACGTCCACCTAT TTAAACACGGATTCATCCATCCACCCATTCACCCACCTACCCACCCATTC ACAAACTCACCTACAGTTCATCCATCCATCCACCCTCCCATCCACCCACC CATCCATCCACCCATCCATGCATCCATCCATCCACCCACTCATCCATCTA TCCACCCATCCATCCACCCACCCATCCACCTACTCATCTATACATCCACC CATCCATCTACCCATCAACCATCAATGCATCCACTCACACATCCACCTAT CTAAACACTGATCCATGCATCCACCCATCCACCCACTCACCCATTCACAA ACCCACCCACCATTCATCCACCCACCCATCCA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1473769	A A	ATGGATGG others(503): Show ATGGATGGGTGGGTGGATGAATGGTGGGTGGGTTTGTGAATGGGTGAGTG GGTGGATGGGTGGATGCATGGATCAGTGTTTAGATAGGTGGATGTGTGAG TGGATGCATTGATGGTTGATGGGTAGATGGATGGGTGGATGTATAGATGA GTAGGTGGATGGGTGGGTGGATGGATGGGTGGATAGATGGATGAGTGGGT GGATGGATGGATGCATGGATGGGTGGATGGATGGGTGGGTGGATGGGAGG GTGGATGGATGGATGAACTGTAGGTGAGTTTGTGAATGGGTGGGTAGGTG GGTGAATGGGTGGATGGATGAATCCGTGTTTAAATAGGTGGATGTGTGGG TGGATGAATTGATCGGTTGATGGGTAGATGGATGGGTGGATGTCTGGGTG GTTGGATATATAGATGAGTAGGTAGATGGGTGGGTGGATGGATGGGTGAG TAGATGGATGAGTGGGTGGATGGGTGGATGGATGGATGATGAATGGATGG GGATGGGTAGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01074.hp1 others(1): Show HG00733.hp1 HG01070.hp2 HG01074.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0002c0002t0009	a0001c0001t0001g0016 a0001c0001t0002g0060 a0001c0001t0008g0099 others(1): Show a0001c0001t0001g0016 a0001c0001t0002g0060 a0001c0001t0008g0099 a0002c0002t0009g0006	4	114	0.0351	510	c.-24 others(527): Show c.-24-7188_-24-7187insGCTACCCATCCCCATCCATTCATCATCC ATCCATCCACCCATCCACCCACTCATCCATCTACTCACCCATCCATCCAC CCACCCATCTACCTACTCATCTATATATCCAACCACCCAGACATCCACCC ATCCATCTACCCATCAACCGATCAATTCATCCACCCACACATCCACCTAT TTAAACACGGATTCATCCATCCACCCATTCACCCACCTACCCACCCATTC ACAAACTCACCTACAGTTCATCCATCCATCCACCCTCCCATCCACCCACC CATCCATCCACCCATCCATGCATCCATCCATCCACCCACTCATCCATCTA TCCACCCATCCATCCACCCACCCATCCACCTACTCATCTATACATCCACC CATCCATCTACCCATCAACCATCAATGCATCCACTCACACATCCACCTAT CTAAACACTGATCCATGCATCCACCCATCCACCCACTCACCCATTCACAA ACCCACCCACCATTCATCCACCCACCCATCCA	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(503): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	262	0.0038	510	c.129 others(527): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(503): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTATTCGGAATAGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCTGAATAGATCTATTCGGATCTATTCT GAATAGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	262	0.0038	510	c.129 others(527): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCTATTCAGAATAGATCCGAATAG ATCTATTCAGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PDE1C_chr7_31746179_32075407	31886851	T T	TTTCAGAA others(503): Show TTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCT TTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATAGATCTATTCG GAATAGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCAGAATA GATCTTTTCGGATCTTTTCAGAATAGATCTATTCGGAATAGATCTTTTCA GAATAGATCTTTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCA GAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCT ATTCGGATCTA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0144 a0002c0007t0002g0144	1	262	0.0038	510	c.129 others(527): Show c.129-5992_129-5991insTAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCCGAATAGATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCCGAAAAG ATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTATTCCG AATAGATCTATTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCTA TTCCGAATAGATCTATTCTGAAAAGATCTATTCCGAATAGATCTATTCTG AAAAGATCTATTCCGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PHF21B_chr22_44876162_45015005	44884402	C C	CACCACCA others(503): Show CACCACCATCACCACCACCATGATCACCATCGTCACCACCACCACCATCA CTGTGATCAGCACCATCATCACCACCATCACCACAACCATGATCGCCATT ATCACCACCGCCACCACCATCACTGTGATCAGCACCATCACCACCACCAT CACCACCACCATGATCACCATTATCACCACCGCCACCACCATCACTGTGA TCAGCACCATCACCATCATGATCACCATTATCACCACCACCACCATCACT GTGATCAGCACCATCACCACCATCATTACCACCATCACCACCACGATCAC CAACGTCACCACCACCACCACCACTGTGATCAGCACCATCACCACCATCA TCACTACCACCATCACCACCACCATGATCACCATTATCACCACCACCACC ATCACTGTGATCAGCACCATCACCACCATCATTACCACCAACACCACCAC GATCACCAACGTCACCACCACCACCACCACTGTGATCAGCACCATCACCA CCATCATCACT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA19000.hp1 NA19010.hp2 NA18939.hp2 NA19000.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0002 a0001c0001t0022	a0001c0001t0002g0117 a0001c0001t0022g0273 a0001c0001t0022g0274 a0001c0001t0002g0117 a0001c0001t0022g0273 a0001c0001t0022g0274	3	300	0.0100	510	c.137 others(529): Show c.1377+1023_1377+1024insAGTGATGATGGTGGTGATGGTGCTGA TCACAGTGGTGGTGGTGGTGGTGACGTTGGTGATCGTGGTGGTGTTGGTG GTAATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGTGGTGAT AATGGTGATCATGGTGGTGGTGATGGTGGTAGTGATGATGGTGGTGATGG TGCTGATCACAGTGGTGGTGGTGGTGGTGACGTTGGTGATCGTGGTGGTG ATGGTGGTAATGATGGTGGTGATGGTGCTGATCACAGTGATGGTGGTGGT GGTGATAATGGTGATCATGATGGTGATGGTGCTGATCACAGTGATGGTGG TGGCGGTGGTGATAATGGTGATCATGGTGGTGGTGATGGTGGTGGTGATG GTGCTGATCACAGTGATGGTGGTGGCGGTGGTGATAATGGCGATCATGGT TGTGGTGATGGTGGTGATGATGGTGCTGATCACAGTGATGGTGGTGGTGG TGACGATGGTGATCATGGTGGTGGTGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	323	0.0031	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03669.hp2 NA18947.hp2 others(2): Show HG03239.hp2 HG03669.hp2 NA18947.hp2 NA18990.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0001g0236 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0189 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0004g0084	5	323	0.0155	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAGGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	323	0.0031	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAGGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG01074.hp1 others(24): Show HG00544.hp2 HG00609.hp2 HG01074.hp1 HG01081.hp1 HG01175.hp1 HG01257.hp2 HG01517.hp1 HG01993.hp1 HG02055.hp2 HG02135.hp1 HG02735.hp2 HG03017.hp2 HG04199.hp1 NA18612.hp2 NA18943.hp1 NA18952.hp2 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18974.hp1 NA18982.hp1 NA18995.hp1 NA19010.hp1 NA19064.hp1 NA19066.hp2 NA19091.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0089 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0206 a0001c0001t0001g0212 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0094 a0001c0001t0004g0240	27	323	0.0836	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429798	A A	GCAGGGTG others(503): Show GCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGG GGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGG GGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCG GGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGC GGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTG GCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGGACCCGGT GGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCA GGTGGCGGGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02559.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0178 a0001c0001t0001g0139 a0001c0001t0001g0178	2	323	0.0062	510	c.405 others(527): Show c.405-1130_405-1129insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCA CGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCAGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429838	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTA AGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	323	0.0031	510	c.405 others(527): Show c.405-1079_405-1078insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429838	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTA AGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG03041.hp2 others(2): Show HG02109.hp2 HG02886.hp1 HG03041.hp2 HG03453.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0040 a0001c0001t0001g0298 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0035g0297	5	323	0.0155	510	c.405 others(527): Show c.405-1079_405-1078insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGG TCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCAC GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	323	0.0031	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0115 a0001c0001t0036g0115	1	323	0.0031	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02109.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	323	0.0062	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141429889	A A	AGGTGGCG others(503): Show AGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGG ACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAAG GACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGTCCCCGCTGTAA GGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTA AGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGT AAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTG TAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCT GTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGC TGTAAGGACCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp2 HG02280.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	323	0.0062	510	c.405 others(527): Show c.405-1028_405-1027insGCAGGGTGAGCGCACAGTCCGGGTCCCC GCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCCC CGCTGTAAGGACCAGGTGGCGGGGGCAGGGTGAGCGCACAGTCCGGGTCC CCGCTGTAAGGACCCGGTGGCGGGGGCAGGGTGAGCGCACAGCCCGGGTC CCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCGGGT CCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGCCCACG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430013	G G	GCACAGTC others(503): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGA GCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGCGGGGACAGGGTG AGCACACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGT GAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAG GGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACA GGGTGAGCGTACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGAC AGGGTGAGCGTACAGCCCAGGTTTCCGCTGTAAGGACCAGGTGGCGGGGA CAGGGTGAGCA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	323	0.0031	510	c.405 others(525): Show c.405-907_405-906insCGGGTCCCCGCTGTAAGGACCCGGTGGCGG GGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCG GGGACAGGGTGAGCGCACAGCCCACGTCCCCGCTGTAAGGACCAGATGGC GGGGACAGGGTGAGCACACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGG CGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTG GCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGT GGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGG TGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCG GTGGCGGGGACAGGGTGAGCGTACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGTACAGCCCAGGTTTCCGCTGTAAGGACC AGGTGGCGGGGACAGGGTGAGCACACAGTC	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 10000 hits)