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
DIDO1_chr20_62872743_62931505	62875344	C C	CCACCCGC others(559): Show CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCC CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACC CGCACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCC CACCCCCACCCGCACCCTCACCCCCACCCCCACCCCCACCCGCACCCGCA CCCCCACCCCCACCCGCACCCCCACCCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCC GCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0005 a0006c0008t0005	a0006c0008t0005g0122 a0006c0008t0005g0122	1	320	0.0031	566	c.38 others(577): Show c.3888_*3889insCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGG GTGGGGGTGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTC GGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2398		chr20	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(559): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCCTCTCTTCCTCCTCTCCTCCT CTTCTGCTCCTTTCCTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACT GCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCA CCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTT GTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCACCCGCCTTGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTCC TCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCCTCCTCTCCTCT CCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTCTTCTTCCTCTC CTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTCCTCTCCTCTTC CTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp1 HG01884.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0133 a0001c0001t0020g0134 a0001c0001t0020g0133 a0001c0001t0020g0134	2	234	0.0086	566	c.489 others(585): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCCTC TCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCTCCTT CTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTC ATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTC CTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCT CCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCT CCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCCT	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FOXK2_chr17_82514732_82609602	82586551	A A	AGGGGAAA others(559): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAATGGAGGAGAGGGGAG ACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGGGACCAC AGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCAGTG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0258	1	308	0.0033	566	c.157 others(583): Show c.1576+368_1576+369insGGAGACCACAGGGAGGTGAAAGGTGGGC GGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAATGGAGGAGAGG GGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGGGA CCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GMDS_chr6_1618806_2250605	1927212	T T	TATTCAGA others(559): Show TATTCAGAGGGTAGCGTGTTGCTGTATTTTTATTCGAAGGGTAGCGTGTT GGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCAGAGGG TAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTTTT ATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGGTGTTG CTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGG TAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGTATTTTTATT CAGAGGGTAGGGTGTTGCTGTATTTTTATTCAGAGGTTAGCGTGTTGATG TATTTTTATTCGAAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAG GGTGTGGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATT CAGAGGGTAGCGTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGCTG TATTTTTATTCGGAGGGTAGCGTGTTGCTGTATTTTTATTCGGAGGGTAG CATGTTGCTGTATTTTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02258.hp2 others(6): Show HG00639.hp2 HG02109.hp2 HG02258.hp2 HG02886.hp2 HG03098.hp1 HG03195.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0084 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0160 a0001c0001t0002g0071 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0151	9	166	0.0542	566	c.771 others(583): Show c.771+2890_771+2891insCAAAATACAGCAACATGCTACCCTCCGA ATAAAAATACAGCAACACGCTACCCTCCGAATAAAAATACAGCAACACGC TACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAAATAC ACCAACATGCTACCCTCTGAATAAAAATACATCCACACCCTACCCTCTGA ATAAAAATACACCAACACGCTACCCTTCGAATAAAAATACATCAACACGC TAACCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAAAATAC AACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATA AAAATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTAC CCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACC AACATGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATA AAAATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACC CTTCGAATAAAAATACAGCAACACGCTACCCTCTGAAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
IL1RAPL2_chrX_104561199_105772829	105307514	T T	TATATATA others(559): Show TATATATATTTTATATTATATATATTATATATAATATATATATTTTATAT TATATATATTATATATAATATATATATTTTATATTATATATATTATATAT AATATATATATTTTATATTATATATATTATATATAATATATATATTTTAT ATTATATATATTATATATAATATATATATTTTATATTATATATATTATAT ATAATATATATATTTTATATTATATATATTATATATAATATATATATTTT ATATTATATATATTATATATAATATATATATTTTATATTATATATATTAT ATATAATATATATATTTTATATTATATATATTATATATAATATATATATT TTATATTATATATATTATATATAATATATATATTTTATATTATATATATT ATATATAATATATATTTTATATTATATATATTATATATAATATATATTTT ATATTATATATATTATATATAATATATATTTTATATTATATATATTATAT ATAATATATATTTTATATTATATATATTATATATAATATATATTTTATAT TATATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	141	0.0071	566	c.697 others(585): Show c.697+40013_697+40014insATTTTATATTATATATATTATATATA ATATATATATTTTATATTATATATATTATATATAATATATATATTTTATA TTATATATATTATATATAATATATATATTTTATATTATATATATTATATA TAATATATATATTTTATATTATATATATTATATATAATATATATATTTTA TATTATATATATTATATATAATATATATATTTTATATTATATATATTATA TATAATATATATATTTTATATTATATATATTATATATAATATATATATTT TATATTATATATATTATATATAATATATATATTTTATATTATATATATTA TATATAATATATATATTTTATATTATATATATTATATATAATATATATTT TATATTATATATATTATATATAATATATATTTTATATTATATATATTATA TATAATATATATTTTATATTATATATATTATATATAATATATATTTTATA TTATATATATTATATATAATATATATTTTATATTATATATATTATATATA ATATATATTTTATATTATATATATTATATATAATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCJ_chr3_159064319_159268747	159229709	T T	TCCTCCCC others(559): Show TCCTCCCCCCCACCCACACCCTCCCCTCTCTCCTCCCCCCCAACTACCCT GTCCTCCTCCCTCCACCCCCCTCCCCCCCTCCTCCCCCTCCCCCCTCCTC CCCCCACCTCCATCCTCCTCCCCCCCCTCCCCATCCTCCTCCCACCTCCT CCTCCTCCCCCCCCCTCCCCGTCCATCCTCCCACCTCCCCCGTCCTCCTC CCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCTCGTCCTCCTCCCCCTC CTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCGTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCC TCCTCCCCCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCT CCTCCCCCCCTCCCCCCCTCCTCCCCCTCCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTTC CCTCCCCCACCTCCCCC	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	252	0.0040	566	c.10- others(583): Show c.10-16129_10-16128insCCCCCACCCACACCCTCCCCTCTCTCCT CCCCCCCAACTACCCTGTCCTCCTCCCTCCACCCCCCTCCCCCCCTCCTC CCCCTCCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCCCTCCCCAT CCTCCTCCCACCTCCTCCTCCTCCCCCCCCCTCCCCGTCCATCCTCCCAC CTCCCCCGTCCTCCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCCTCCT CGTCCTCCTCCCCCTCCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCGTC CCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCCTCCCCCCTCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCTCCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCCTCCCCCACCTCCCCCCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(559): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGC TCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGG CTCGGGAGGGGAGGCGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0050 a0001c0044t0001g0050	1	282	0.0036	566	c.623 others(583): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGG GGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAG GGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGC TCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(559): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGC CACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACA GCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGC CCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAG CCGCCCCCGCAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	312	0.0032	566	c.-41 others(581): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAG CCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCAC AGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACA GCCGCCCCCGCAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCG CAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(559): Show CGCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTC CCACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	312	0.0032	566	c.-41 others(581): Show c.-41+629_-41+630insCCCCACAGCCGCCCCCCTCACAGCCACCCC CCCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCC ACCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACA GCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCT CCCACAGCCATCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCATCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAG CCACCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCG CAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(559): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTC CCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	566	c.-27 others(577): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(559): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATTTATATAT ATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0093 a0001c0001t0011g0093	1	260	0.0039	566	c.125 others(583): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATATTTATATATTTATATGTATTTATACATATAT ATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATA TATTTATATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LMF1_chr16_848634_975984	953985	A A	ACACAGAC others(559): Show ACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCA CACCAGCTTCCTACATGTCCACACAGACACCCACCCCACACCAGCCTCCT ACATGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCACAC AGACACCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGACCC GAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTC CTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACATCCAC ACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCAC CCCACACCAGCCTCCTACATGTCCACACAGACACCCACTCCAAACCAGCC TCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCC ACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCC CAAACCAGCCTCCTACACGTCCACACAGACACCCCAAACCAGCCTCCTAC ACGTCCACACAGACACC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0292 a0001c0002t0011g0292	1	294	0.0034	566	c.503 others(581): Show c.503+371_503+372insGGTGTCTGTGTGGACGTGTAGGAGGCTGGT TTGGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGTCTGTGTG GACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAG GCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAG TGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTG TGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGTAGG AGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGG GGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTG TGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTA GGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGT GGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTC TGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LRRC27_chr10_132327193_132386508	132364448	C C	CCCGCGCT others(559): Show CCCGCGCTTACACCCACACTTACATCTACCTCCACACCCACACTTACACC CACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCGCGCT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACC CACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACTCA TGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTTACACC CACACTTACATCTACCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	290	0.0035	566	c.129 others(583): Show c.1290-974_1290-973insGCGCTTACACCCACACTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCC ACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTTACACTCATGCTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCACACTTACACCCACCCACACTTAC ACCCACCCACACTTACACCCACACTTACATCTACCTCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1A2_chr1_117362449_117533872	117524609	C C	CTAATATA others(559): Show CTAATATAGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTCC AAAATAGTAATCCAGTTGTTTTTAATTTCTATTTTCCCAAGTAGTTAAAA CCTCTATTTTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTC CAAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT ATTATTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACA TTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCA CCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTC CCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCC TGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATG CGGTGTTTGGTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCA GTAAACTATCGCAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0183 a0001c0001t0183	a0001c0001t0183g0254 a0001c0001t0183g0254	1	370	0.0027	566	c.16 others(577): Show c.1668_*1669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTCCA AAATAGTAATCCAGTTGTTTTTAATTTCTATTTTCCCAAGTAGTTAAAAC CTCTATTTTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGCTTCC AAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA TTATTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCAC CCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCC CCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAG TAAACTATCGCAAGAATAATATAGTATTTTCT	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	13/13	1669	INFO_REALIGN_3_PRIME	chr1	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATA others(559): Show TATATATATTCATATATATATTCATATATAGATTCATATATATATATTCA TATATAGATTCATATATAGATTCATATATAGATTCATATATAGATTCATA TATAGATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTCATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATATTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	191	0.0052	566	c.343 others(583): Show c.343-4348_343-4347insGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATATGAATATATATAT GAATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATATGAATATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATGAATCTATATATGAATCTAT ATATGAATCTATATATGAATCTATATATGAATCTATATATGAATATATAT ATATGAATCTATATATGAATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(559): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCTGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTG GCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC GCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGA GTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	292	0.0034	566	c.218 others(581): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCG GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGG GGCACACTCGCCAGGAGCCCATGTGAGGCACAGGGGGCACACTCGCCAGG AGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(559): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAAAATATATATAC ATATTATATTATATATAATATATATACATATTACATATATTATATATAAT ATATATACATATTATATTATATATAATATATATACATATTACATATATTA TATATAATATATATACATATATAATATATTATATATTATATATAATATAT ATAATATATAATATATATATAATATAATATATTATATATTATATATAATA TATATAATATATAATATATTATATATTATATATAATATATATAATATATA ATATATTATATAATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0274 a0001c0002t0001g0274	1	332	0.0030	566	c.262 others(585): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAAAATATATATACATATTATATTATATATAATATATATAC ATATTACATATATTATATATAATATATATACATATTATATTATATATAAT ATATATACATATTACATATATTATATATAATATATATACATATATAATAT ATTATATATTATATATAATATATATAATATATAATATATATATAATATAA TATATTATATATTATATATAATATATATAATATATAATATATTATATATT ATATATAATATATATAATATATAATATATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(559): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATA AGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	326	0.0031	566	c.358 others(583): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(559): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATGTAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATA AATATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATA TAAGTATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	326	0.0031	566	c.358 others(583): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT GTAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAAT ATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATAT ATATATTTCAATATAAGTATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(559): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATGTAAATATATATA TTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTC AATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATA AGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0018 a0002c0012t0018	a0002c0012t0018g0043 a0002c0012t0018g0043	1	326	0.0031	566	c.358 others(583): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT GTAAATATATATATTTCAATATAAGTATATGTAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA ATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAA GTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATT others(559): Show TATATATTTAAATATAAGTATATATATAAATATATATATTTATATATAAG TATATATATAAATATATATATTTATATATAAGTATATATATAAATATATA TATTTATATATAAGTATATATATATTTATATATAAGTATATATATATATT TATATATAAGTATATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTGTATATATATAAATATATATATTTATATATA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATACATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	326	0.0031	566	c.358 others(583): Show c.358+3439_358+3440insTTAAATATAAGTATATATATAAATATAT ATATTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATAAATATATATATTTATATATAAGTATATATATATTTATATATAA GTATATATATATATTTATATATAAGTATATATATATATTTATATATAAGT ATATATATAAATATATATATTTATATATAAGTATATATATATTTATATAT AAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAATAT ATATATTTATATATAAGTATATATAAATATATATATTTATATATAAGTAT ATATAAATATATATATTTATATATAAGTATATATAAATATATATATTTAA ATATAAGTATATATAAATATATATATTTAAATATAAGTATATATATAAAT ATATATTTAAATATAAGTATATATAAATATATATTTAAATATAAGTATAT ATATAAATATATATTTAAATATAAGTATATATATAAATATAAGTATATAT ATAAATATATATTTAAATATAAGTATACATAAATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NCOR2_chr12_124319415_124572612	124439119	A A	AGAGAGAG others(559): Show AGAGAGAGAGGGAGACAGAGACCCGGAGACAGAGGGAGACAGAGACCCAG AGACAGAGGGAGACAGAGACCCAGAGAGAAGGAGACAGAGACCCAGAGAG AGAGAGAGAGAGATCCAGAGAGAGGGAGATGGAGACCCAGAGAGAGGGAG AAAGAAACCCAGAGACAGAGAGAGACAGAGACCCAGAGACAGAGGGAGAC AGAGACCCAGAGACAGAGGGAGACACAGAGACCCAGAGAGAGGGAGACAG AGACCCAGAGACAGGAGAGACAGAGACCCAGAGACAGAGGGAGACAGAGA CCCGGAGACAGAGACCCAGAGGCAGAGGGAGACAGAGACCCTGAGACAGA GGGAGACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGAGACAGAGG GAGACACAGAGACCCAGAGAGAGGGAGACAGAGACCCAGAGACAGGAGAG ACAGAGACCCAGAGACAGAGGGAGACAGAGACCCAGGGACAGAGGGAGAC AGAGACCCTGAGACAGAGGGAGACAGAGACCCAGAGACAGAGGGAGACAG AGACCCAGAGACAGAGG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0080 a0002c0001t0080	a0002c0001t0080g0232 a0002c0001t0080g0232	1	234	0.0043	566	c.816 others(583): Show c.816-1124_816-1123insCCTCTGTCTCTGGGTCTCTGTCTCCCTC TGTCTCTGGGTCTCTGTCTCCCTCTGTCTCAGGGTCTCTGTCTCCCTCTG TCCCTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCTCCTGTCT CTGGGTCTCTGTCTCCCTCTCTCTGGGTCTCTGTGTCTCCCTCTGTCTCT GGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTGTCTCAGG GTCTCTGTCTCCCTCTGCCTCTGGGTCTCTGTCTCCGGGTCTCTGTCTCC CTCTGTCTCTGGGTCTCTGTCTCTCCTGTCTCTGGGTCTCTGTCTCCCTC TCTCTGGGTCTCTGTGTCTCCCTCTGTCTCTGGGTCTCTGTCTCCCTCTG TCTCTGGGTCTCTGTCTCTCTCTGTCTCTGGGTTTCTTTCTCCCTCTCTC TGGGTCTCCATCTCCCTCTCTCTGGATCTCTCTCTCTCTCTCTCTGGGTC TCTGTCTCCTTCTCTCTGGGTCTCTGTCTCCCTCTGTCTCTGGGTCTCTG TCTCCCTCTGTCTCCGGGTCTCTGTCTCCCTCTCTCTC	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	9/48			chr12	TogoVar
NLGN1_chr3_173392744_174299372	174199422	C C	CCAAGGTG others(559): Show CCAAGGTGATCTTTTCTTTTTTTTTTTTTTTTTTTTCATTTATTTTTATT TTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTACTGGGTAT ATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTTGGGGGAGGAGGGGAGGGATAGTATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0014 a0001c0002t0011g0014	1	44	0.0227	566	c.707 others(585): Show c.707-75877_707-75876insTTTTTTTTTTTTTTTTTTTCATTTAT TTTTATTTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGT ACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTAC TGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGC ACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCA ACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTTT GTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCA AGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAA CAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTTGGGGGAGGAGGGGAGGGATAGTATTGGGAGATATACCTAA TGCTAGATGACACATTAGTGGGTGCAAGGTGATCTTTTCT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NLGN1_chr3_173392744_174299372	174199422	C C	CCAAGGTG others(559): Show CCAAGGTGATCTTTTCTTTTTTTTTTTTTTTTTTTTCATTTATTTTTATT TTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTACTGGGTAT ATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTTGGGGGAGGGGGGGAGGGATAGTATTGGGAGATATACCTAATGCTAGA TGACACATTAGTGGGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02615.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0039 a0001c0001t0019g0003 a0001c0001t0002g0039 a0001c0001t0019g0003	2	44	0.0455	566	c.707 others(585): Show c.707-75877_707-75876insTTTTTTTTTTTTTTTTTTTCATTTAT TTTTATTTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGT ACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTAC TGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGC ACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCA ACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATAT ACACCATGGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTTT GTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCA AGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAA CAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTG TGGTGGGGTTGGGGGAGGGGGGGAGGGATAGTATTGGGAGATATACCTAA TGCTAGATGACACATTAGTGGGTGCAAGGTGATCTTTTCT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136535823	G G	GGGTGGGT others(559): Show GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGG GTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCC TGGGGCAATGGGTGCAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0239 a0001c0001t0007g0239	1	324	0.0031	566	c.140 others(583): Show c.140+8200_140+8201insATGCACCCATTGCCCCAGGAGGGATCCT GAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(559): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTTAAACTATA TAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATA GTTTATAGTTTTAAACTATATAGTTTATATATAGTTTTAAACTAGTTTAT ATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAGTTTATATAGTT TAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATA GTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTT TAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAA ACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTTAAACTATATAGTT TAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTTTATAT AGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0179 a0002c0001t0001g0179	1	244	0.0041	566	c.342 others(585): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATA TAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACTATAT ATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTT TAAACTATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTATATA AACTATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTT TAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTA AAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(559): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGA GAGGGGAGGAGGAAGGAGGACGGAGAAGGGGGAGGGAGGAGGATGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAAGGGAGGGGATGGGGGAGGGAGA AGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGATGGGG GAGGGGAGGGGGGAGGGGGATGGGGAGGGGAGGGGGGAGGGAGAGGGGAG GGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGAGAGGGGG AGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGA AGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGG AGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGG AGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGG AGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0298 a0001c0003t0002g0298	1	344	0.0029	566	c.154 others(583): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCC CCTTCCCCCTCCCCCTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCC TTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCCCTTCCCCTCCCCC TTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCTCCT CCCCCTCCCCCTCCCTTCTCCCTCCCCCATCCCCTCCCCCTCCCCTCTCC CTCCCCCCTCCCCTCCCCATCCCCCTCCCCCCTCCCCTCCCCCATCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCCTTCTCCCTCCCC CATCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCT CCTCCCTCCCCCTTCTCCGTCCTCCTTCCTCCTCCCCTCTCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCC CCTCCCCTCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237648	A A	ATACTATG others(559): Show ATACTATGTAGTATATATAGTATATAGTATATATAGTATATATAGGATAT ATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTATAT ATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTAT ATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTAGAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAGT ATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	439	0.0023	566	c.-16 others(577): Show c.-1695_-1694insTACTATGTAGTATATATAGTATATAGTATATATA GTATATATAGGATATATAGGATATATATAATATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATA TAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTAGAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATACTATATATACTC TATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAC	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1637		chr14	TogoVar
OR3A2_chr17_3271177_3391308	3327954	C C	CTTGTAGT others(559): Show CTTGTAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAGTATACTATACTACAGTATAGTATAGTATACTAT ACTACAGTATAGTATAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0284 a0002c0002t0004g0284	1	318	0.0031	566	c.-27 others(585): Show c.-279+8074_-279+8075insCTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTGTAGTATAGTATAC TATACTATACTGTAGTATAGTATACTATACTATACTACAA	OR3A2	ENSG00000221882.5	transcript	ENST00000573901.3	protein_coding	2/4			chr17	TogoVar
OSGIN1_chr16_83948240_83971332	83950471	A A	ACACACGT others(559): Show ACACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACACACACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACACGTACACACACATGCACACATGAGCAC ATGTGCACACATGCACATACATACTGGCACACACGTACACACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACAC ACATGCACACGTGAGCACATGTGCACACATGCACATACATACTGGCACAC ACGTACACACATGCACACGTGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACACGCACACGTGAGCACATGTGCACACATGCACATAC ATACTGGCACACACGTACATGCACACGTGAGCACATGTGCACACATGCAC ATACATACTGGCACACGTACACACGCACACGTGAGCACATGTGCACACAT GCACATACATACTGGCACACGTACACGCACACGTGAGCACATGTGCACAC ATGCACATACACACTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0008 a0003c0006t0008	a0003c0006t0008g0169 a0003c0006t0008g0169	1	350	0.0029	566	c.-29 others(577): Show c.-2932_-2931insCACACGTACACACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACACACACATGCACACATG AGCACATGTGCACACATGCACATACATACTGGCACACACGTACACACACA TGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACG TACACACACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACACGTACACACATGCACACGTGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACACACATGCACACGTGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACACGCACACGTGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACATGCACACGTGAGCACA TGTGCACACATGCACATACATACTGGCACACGTACACACGCACACGTGAG CACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACGTG AGCACATGTGCACACATGCACATACACACTGG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2768		chr16	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(559): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCCTCCTT CCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTC CCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCGTCCCTTCCT CCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCC CTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCC CTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCT GCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGC CTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCT ACCTCCTTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	350	0.0029	566	c.-15 others(577): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTC CTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCC CCTCCGTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCC ACCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCC TTCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTC CTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCT TCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTT CCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTACC TCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTC CCTCCTTCCCTCCCTACCTCCTTCCTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0126	1	354	0.0028	566	c.65 others(577): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCCC ATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCTA CTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCCACC TCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0189 a0002c0002t0001g0189	1	354	0.0028	566	c.65 others(577): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCCA TTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACC CTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAAC CCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCACC CCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCC CATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCT ACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACC TCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCTCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0058 a0001c0001t0004g0058	1	354	0.0028	566	c.65 others(577): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCCC CCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCCA TCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACCA ACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCC ATTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCAC CCTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAA CCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCAC CCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCC CATCCCCCCACCCCTACTCTCAACCCCTCACCTGCACCACACCCACCCCT ACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACC TCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCC ACTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACT CCCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	354	0.0028	566	c.65 others(577): Show c.6528_*6529insCCCCCCACCTCCCACCCACACCCCTACTCCCATC CCCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCC CCCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCC ATCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACC AACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCC ATTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCAC CCTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAA CCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCAC CCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCC CATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCT ACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACC TCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
P2RX3_chr11_57333352_57377396	57376525	A A	ACCCCCCC others(559): Show ACCCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCC ACTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACT CCCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	354	0.0028	566	c.65 others(577): Show c.6528_*6529insCCCCCCCACCTCCCACCCACACCCCTACTCCCAT CCCCCCACCTCCCCACTCCCACCCCTACTCCCATCCCCACCACCATCTCC CCCACCCCTACTCCCAACCCCTCACCTCCACCACACCCATCTCTACTCCC ATCCCCCCACCTCCCACTCCCACCCCTACTCCCAACCCCTCACCTCCACC AACCCTACCCCTACTCCCATCCCCCCACCTCCCACCCCACCCCTACTCCC ATTCCCCCACCTCCCACTCCCACCCCTACTCCCAGTCCCCCACCTCCCAC CCTCATCCCTACTCCCATCCCCCCACTTCCCACCCCACCCCTACTCCCAA CCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCTCCCAC CCCCACCCCTACTCCTAACCCCTCACCTGCACCACACCCATCCCTACTCC CATCCCCCCACCCCTACTCCCAACCCCTCACCTGCACCACACCCACCCCT ACTCCCAACCCCCCACCTCCCACCCCCACCCCTACTCCCATCCCCCCACC TCCCCTTTCCCACCCCTACTCCCATCCCCACC	P2RX3	ENSG00000109991.10	transcript	ENST00000263314.3	protein_coding		4130		chr11	TogoVar
PDE10A_chr6_165322289_165668241	165619398	T T	TCTAGTGT others(559): Show TCTAGTGTAGTGTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGTAGTC TAGTGTAGTGTAGTCTAGTGTAGTCTAGTATAGTGTAGTATAGTCTAGTG TACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTAGTGTAGTG TAGTCTAGTGTACTGTAGTGTAGTGCAGTGTAGTGTAGTACAGTCTAGTG TAGTCTAGTATAGTGTAGTCCAGTGTAGTGTAGTGTAGTCTAGTGTACTG TAGTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTC TAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTG TAGTGCAGTGGTCTAGTGCAGTGTAGTCTAGTGTAGTACAGTCTAGTGTA GTCTAGTGTAGTGTAGTGTAGTCTAGTCTAGTGTAGTCTAGTGTAGTGTA GTCTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTAGTGTA GTCTAGTGTAGTGTAGTGTAGTCTAGCGTAGTGTACTGTAGTCTAGCGTA GTGTACTGTAGTCTAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01081.hp1 others(16): Show HG00639.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp2 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02735.hp1 HG03017.hp2 HG03239.hp1 HG03688.hp1 NA18951.hp2 NA18989.hp2 NA19090.hp2 NA20805.hp2 NA20905.hp2	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0007c0017 a0008c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003 a0001c0004t0012 a0001c0022t0006 a0007c0017t0003 a0008c0016t0001	a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0003g0009 others(16): Show a0001c0001t0001g0023 a0001c0001t0001g0100 a0001c0001t0003g0009 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0117 a0001c0001t0010g0157 a0001c0001t0019g0092 a0001c0002t0001g0046 a0001c0002t0001g0121 a0001c0002t0001g0168 a0001c0002t0004g0049 a0001c0003t0001g0105 a0001c0003t0001g0138 a0001c0003t0003g0104 a0001c0004t0012g0067 a0001c0022t0006g0098 a0007c0017t0003g0002 a0008c0016t0001g0001	19	222	0.0856	566	c.865 others(585): Show c.865+42548_865+42549insGCTAGACTACAGTACACTACGCTAGA CTACAGTACACTACGCTAGACTACACTACACTACACTAGACTACACTACA CTAGACTACACTAGACTACACTACACTAGACTACACTAGACTACACTACA CTAGACTACACTAGACTAGACTACACTACACTACACTAGACTACACTAGA CTGTACTACACTAGACTACACTGCACTAGACCACTGCACTACACTACAGT ACACTAGACTACACTACACTACAGTACACTAGACTACACTAGACTACACT ACACTACACTACAGTACACTAGACTACACTACACTACACTACAGTACACT AGACTACACTACACTACACTGGACTACACTATACTAGACTACACTAGACT GTACTACACTACACTGCACTACACTACAGTACACTAGACTACACTACACT ACACCACACCACACTAGACTACACTATACTACACTACAGTACACTAGACT ATACTACACTATACTAGACTACACTAGACTACACTACACTAGACTACACT ACTACACTACACTAGCCTACACTAGCCTACACTACACTAG	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCCGG others(559): Show GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGG GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGG GCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGG CGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGG CGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGG CGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGC GCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCG CGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0006 a0024c0042t0006	a0024c0042t0006g0012 a0024c0042t0006g0012	1	210	0.0048	566	c.45+ others(577): Show c.45+94_45+95insCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGT AGGGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGT AGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTA GGGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAG GGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCCGGGGTAG GGGCGGGGTGGGGGCGCCGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAG GGGCGGGGTGGGGGCGCGGGGGTAGGGGCGGGGTGGGGGCGCCGGAGTAG GGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGG GGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGG GCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAAG others(559): Show GACAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGA AGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGA AGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGA AGAAGGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGG AAGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAG AAGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAG GAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAA GAAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAA GAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGA AGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAGGA AGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	188	0.0053	566	c.147 others(585): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTT TCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTC CTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTT CTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTT TCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTTC TTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCTTCTTTC TTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTC TTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGC TTCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTCC CTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP1R14C_chr6_150138044_150255392	150167968	T T	TTCTCCCC others(559): Show TTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTTCTCTCCTCCCCTCTTTCTCTCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTT CTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTCCTCTCC TTCTCTCCTCCCCTTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	312	0.0032	566	c.306 others(585): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTC TCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCCTTCCTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(559): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTC ACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTC TGAGGAGCATGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGT GTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCT CTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0073 a0001c0002t0039g0073	1	340	0.0029	566	c.227 others(583): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCT GTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGGGGGCAGGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCTC TGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(559): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCC TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCCCTCCTTCTCTCT CCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCC TTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCT CCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCC TTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTC CCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTC TCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCT CTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03225.hp2 HG02809.hp2 HG03225.hp2	a0005 a0007 a0005 a0007	a0005c0018 a0007c0024 a0005c0018 a0007c0024	a0005c0018t0012 a0007c0024t0007 a0005c0018t0012 a0007c0024t0007	a0005c0018t0012g0030 a0007c0024t0007g0173 a0005c0018t0012g0030 a0007c0024t0007g0173	2	210	0.0095	566	c.439 others(585): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTTCCCCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTG TCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTC CCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCT CCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTC TCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCC CCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(559): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCC TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCCCTCCTTCTCTCT CCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCC TTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCT CCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCC TTCTCTCTCCCCTTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTC CCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTC TCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCT CTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp1 HG02647.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0004t0010 a0001c0001t0011 a0001c0004t0010	a0001c0001t0011g0047 a0001c0004t0010g0032 a0001c0001t0011g0047 a0001c0004t0010g0032	2	210	0.0095	566	c.439 others(585): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTTCCCCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTG TCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTC CCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCT CCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCTTTCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTC TCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCC CCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCAC CTCCCACCCCCACCCCTACTCCCATCCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGG GGTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGA GTAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTG GGAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTG GGAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTG GGAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGG AGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGT GGAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGG AGTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGA GATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATG GGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCCT AACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCTA CTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCCA CCTCCCACCCCCATCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	396	0.0025	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGATGGGGGTGGGAGGTGGGGGGGTTGGGAGTAGG GGTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGA GTAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTG GGAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTG GGAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTG GGAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGG AGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGT GGAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGG AGTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGA GATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATG GGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCCC ATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACCA CACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	396	0.0025	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGGTG GGAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTG GGAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTG GGAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGG AGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGT GGAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGG AGTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGA GATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATG GGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCCA CTCCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGGAGTGGGAGGTGGGGGAATGGG AGTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGT GGAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGG AGTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGA GATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATG GGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCAC TCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCCA ACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCCA CTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACTC CCATCCCCCCACCTCCCACCCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCTCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	396	0.0025	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGAGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGT GGAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGG AGTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGA GATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATG GGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCA others(559): Show ACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCC ACTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACT CCCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 NA18979.hp1 HG01981.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGGATG GGAGTAGGGGTGTGGGTGGGAGGTGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar
PRG3_chr11_57371769_57386150	57376525	A A	ACCCCCCC others(559): Show ACCCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCTCACCTCCACCACACCCATCTCTACTCCCATCCCCCCACCTCCC ACTCCCACCCCTACTCCCAACCCCTCACCTCCACCAACCCTACCCCTACT CCCATCCCCCCACCTCCCACCCCACCCCTACTCCCATTCCCCCACCTCCC ACTCCCACCCCTACTCCCAGTCCCCCACCTCCCACCCTCATCCCTACTCC CATCCCCCCACTTCCCACCCCACCCCTACTCCCAACCCCTCACCTGCACC ACACCCATCCCTACTCCCATCCCCCCACCTCCCACCCCCACCCCTACTCC TAACCCCTCACCTGCACCACACCCATCCCTACTCCCATCCCCCCACCCCT ACTCCCAACCCCTCACCTGCACCACACCCACCCCTACTCCCAACCCCCCA CCTCCCACCCCCACCCCTACTCCCATCCCCCCACCTCCCCTTTCCCACCC CTACTCCCATCCCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	566	c.32 others(575): Show c.324_*325insGGTGGGGATGGGAGTAGGGGTGGGAAAGGGGAGGTG GGGGGATGGGAGTAGGGGTGGGGGTGGGAGGTGGGGGGTTGGGAGTAGGG GTGGGTGTGGTGCAGGTGAGGGGTTGGGAGTAGGGGTGGGGGGATGGGAG TAGGGATGGGTGTGGTGCAGGTGAGGGGTTAGGAGTAGGGGTGGGGGTGG GAGGTGGGGGGATGGGAGTAGGGATGGGTGTGGTGCAGGTGAGGGGTTGG GAGTAGGGGTGGGGTGGGAAGTGGGGGGATGGGAGTAGGGATGAGGGTGG GAGGTGGGGGACTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGAATGGGA GTAGGGGTGGGGTGGGAGGTGGGGGGATGGGAGTAGGGGTAGGGTTGGTG GAGGTGAGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGGGGATGGGA GTAGAGATGGGTGTGGTGGAGGTGAGGGGTTGGGAGTAGGGGTGGGGGAG ATGGTGGTGGGGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGG GAGTAGGGGTGTGGGTGGGAGGTGGGGGGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		243		chr11	TogoVar

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Search Results (Total: 10000 hits)