Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GALNT9_chr12_132191372_132334589	132241441	C C	CCTTCCAG others(621): Show CCTTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTC CCAGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGG GCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCT CCCTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTA TACCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCC ATTACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTAC ACACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACA CGCCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCA CACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTC CCGGGGCCCTCCCTATACCCATTAAACACACAACACACCCCCTTCCCGGG GCCCTCCCTATCCCCATTAAACACACAACACACCCCCTTCCCAGGGCCCT CCCTATACCCATTACACACACAACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp1 HG02280.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0151 a0001c0002t0001g0069 a0001c0002t0001g0151	2	183	0.0109	628	c.107 others(647): Show c.1077+6468_1077+6469insTGTGTGTTGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAG GGCCCCGGGAAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCC CGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGTCCCTGGGA AGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCCAGGAAGGGGGTGTG GCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGGTGTGGCGTGTGTGT AATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGGGATAGGGAGGGCCC TGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAGGGAGGGCCCCTGGA AG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GALNT9_chr12_132191372_132334589	132241628	G G	AGGGCCCT others(621): Show AGGGCCCTCCCTATACCCATTACACACACAACACACACTTCCCGGGGCCC TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTA CACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAAC ACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACC CCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTT CCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGG AGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCAGGGGCCC TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCT ATACCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACCCCCTTCCCG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0108 a0001c0007t0010g0108	1	183	0.0055	628	c.107 others(647): Show c.1077+6282_1077+6283insGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GAGGGCCCCTGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGGG CTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAG GGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGT GTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGC GTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTG TGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCC CT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(621): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	188	0.0053	628	c.109 others(647): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218284	A A	ACCCCCAA others(621): Show ACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCA ACACCACCCAACACCACCCCCAACACCACCCAACACCACCCCACACCACC CCCAACACCACCCAACACCACCCCACACCACCCCCACACCACCCAACACC GCCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCCACCACCCCCAACACCAC CCCAACACCACCCCCAACACCACCCCCACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCACCCCCACCACCCCCAACACCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	628	c.27 others(639): Show c.2766_*2767insCCCCCAACACCACCCCCACCACCCCCAACACCAC CCCAACACCACCCCAACACCACCCAACACCACCCCCAACACCACCCAACA CCACCCCACACCACCCCCAACACCACCCAACACCACCCCACACCACCCCC ACACCACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCACCCCAACACCACCCCACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCAC CCCCACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAC CACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCACCACCCC CAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCACCCCCACCACCCCCAACACCACCCCAACACCACCCCCAACACCAC CCCAACACCACCCCCAACACCACCCCCACCACCCCCAACACCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1115		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(621): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATAAATATATATTTATGTATATTTATA TATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0179 a0001c0001t0018g0179	1	208	0.0048	628	c.-97 others(645): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATAAATATATATTTATGTAT ATTTATATATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HRAS_chr11_527242_540576	530670	G G	GGAGTGTG others(621): Show GGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGA GAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCC TGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGGAG TGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAG GGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGA GAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGACAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGGGG AGTGTGGCGTCGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGT CCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGG CCAGTGTGGCGTCCCCTGGACAGAAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	397	0.0025	628	c.18 others(639): Show c.1857_*1858insGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTGGCCCTTCTCTCCAGGGGACGCCACACTCGACGCCACACTCCCCC TTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCCAGGGGACGCCACAC TCCCCCTTCTCTCCAGGGGACGCCACACTGGCCCTTCTGTCCAGGGGACG CCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCC CCTTCTGTCCAGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCC AGGGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTC	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1571		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAATATAT others(621): Show GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATGGAATGTATATATGGAATATATATGTGGAATGTATAT ATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTG GAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATG TATATGTGGAATGTATATATGTGGAATGTATATATGGAATATATATATGT GGAATATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	323	0.0031	628	c.-16 others(639): Show c.-1688_-1687insAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATGGAATGTATATATGGAATATAT ATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTG GAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATG TATATATGTGGAATGTATATGTGGAATGTATATATGTGGAATGTATATAT GGAATATATATATGTGGAATATATATATATGGAATATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1601		chr21	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(621): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGGATGG ATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAATGGGT AGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGGATAG GTGAAGGTTAGATGGGTGGGCGGAGGGATGGATGGATGGATGGATAGGTG GATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00558.hp2 others(29): Show HG00140.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG01346.hp2 HG01496.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02523.hp1 HG02895.hp1 HG02970.hp1 HG03491.hp2 HG03516.hp2 HG04204.hp1 NA18960.hp1 NA18981.hp2 NA18984.hp2 NA19007.hp2 NA19011.hp1 NA19066.hp1 NA19079.hp2 NA19085.hp2 NA19087.hp2 NA19091.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0005 a0001c0021 others(2): Show a0001c0001 a0001c0005 a0001c0021 a0002c0002 a0008c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0005t0002 a0001c0021t0001 a0002c0002t0003 a0002c0002t0004 a0008c0027t0012	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0069 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0136 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0180 a0001c0001t0002g0221 a0001c0001t0002g0254 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0289 a0001c0001t0002g0303 a0001c0001t0004g0048 a0001c0001t0006g0177 a0001c0001t0016g0125 a0001c0005t0002g0025 a0001c0021t0001g0129 a0002c0002t0003g0266 a0002c0002t0003g0288 a0002c0002t0004g0034 a0002c0002t0004g0044 a0008c0027t0012g0127	32	310	0.1032	628	c.199 others(645): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATG GATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGA TGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATG GATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGCGGAGGGAT GGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGGATGA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(621): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0146 a0002c0003t0001g0146	1	308	0.0033	628	c.127 others(647): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTC TT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(621): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATTTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0040 a0001c0002t0004g0040	1	242	0.0041	628	c.174 others(647): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATTTATATATAT AT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LRRC24_chr8_144517388_144532033	144531300	A A	AGCGAGCA others(621): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACA GGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACAGCTGAAGGGCACAGGGCAGAGAGCAGCAGGTGGG GAGTGGGCTAGACATAGCAGGCACGGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	398	0.0025	628	c.-44 others(639): Show c.-4401_-4400insCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCAC CTGCTGCTCTCTGCCCTGTGCCCTTCAGCTGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4268		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364447	A A	ACCCACAC others(621): Show ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCAC ACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCATGACCACACCCACACTTACATCTACCTCCACACCCAC AATTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTCACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCTTACATCTACCTCCACACCCACAATTACAC CCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAATT ACACCCACCCTTACATCTACCTCCACACCCACAATTACACCCACCCACAC TTACACCCACACTTACATCTACCTCCACG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	290	0.0035	628	c.129 others(645): Show c.1290-969_1290-968insTACACCCACGCTTACATCTACCTCCACA CCCACAATTACACCCACCCTTACATCTACCTCCACACCCACACTCACACC CACCCACACTCACACCCACGCTTACATCTACCTCCACACCCGCGCTTACA CCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCTTACATC TACCTCCACACCCACACTCACACCCATGACCACACCCACACTTACATCTA CCTCCACACCCACAATTACACCCACCCACACTTACACCCACGCTTACATC TACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACA TCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACACTTA CATCTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACA CCCACAATTACACCCACCCACACTTACACCCACACTTACATCTACCTCCA CACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTC CACACCCACAATTACACCCACCCTTACATCTACCTCCACACCCACAATTA CACCCACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(621): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATAT ATAAATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATAT ATATAAATATATATGTTTTGTAAATATATAAATATATATTTTGTAAATAT ATATATATTTTGTAAATATATATATATTTTGTAAATATATATATATTTTG TAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTATATAT ATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATATATAT ATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTAAATA TGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATATATA CATTTTGTAAATATATAAAAATATATACATTTTGTAAATATATAAAAATA TATGTTGTAAATATATAAAAATATATATATTTTGTAAATATATAAATATA TATATTTTGTAAATATATATATATTTTGTAAATATATATAAATATATACA TATTTTGTAAATATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18947.hp1 NA18964.hp1 HG02080.hp1 NA18947.hp1 NA18964.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0283 a0001c0003t0003g0285 a0001c0003t0003g0299 a0001c0003t0003g0283 a0001c0003t0003g0285 a0001c0003t0003g0299	3	330	0.0091	628	c.197 others(647): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATTTATATATTTACAAAACATATATATTTA TATATATTTACAAAACATATATATTTATATATATTTACAAAACATATATT TATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATA TATATTTATATATATTTACAAAACATATATATATTTATATATATTTACAA AA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ACATATAT others(621): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	364	0.0028	628	c.394 others(643): Show c.394-653_394-652insGTTCATATATATATTCATATATATATGTTC ATATATATTCATATATATGTTCATATATATATTCATATATATGTTCATAT ATATTCATATATATGTTCATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(621): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATGTATAAAAAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0090 a0003c0003t0004g0090	1	326	0.0031	628	c.358 others(645): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(621): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATATATCGATAATACAC ATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGATA ATACACATCTATGTATTATATATCGATAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA20300.hp2 NA21309.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0001 a0001c0001t0001 a0003c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0104 a0003c0007t0001g0064 a0001c0001t0001g0024 a0001c0001t0001g0104 a0003c0007t0001g0064	3	170	0.0177	628	c.332 others(647): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGT ATTATATATCGATAATACACATCTATGTATTATATATCGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TATATCGA others(621): Show TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA TATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19085.hp1 NA18946.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0012 a0003c0003t0002g0013	2	170	0.0118	628	c.332 others(647): Show c.332+40376_332+40377insGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATATATCGATAAT ACACATCTATGTATTATATATCGATAATACACATCTATGTATTATATATC GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATATATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTACATATCGA TA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(621): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC TGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATAC ACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CTGTGTATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATAC TGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGT ATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACA GTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0234 a0001c0001t0032g0234	1	362	0.0028	628	c.-75 others(647): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATACA CAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACAT ACAGTATACATACATACAGTATACATACATACAGTATACATACATACAGT ATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTGTACA CA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGAGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0036 a0001c0001t0017g0036	1	155	0.0065	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCTCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG01099.hp1 others(6): Show HG00099.hp1 HG01069.hp1 HG01099.hp1 HG01934.hp1 NA18952.hp1 NA18971.hp1 NA18977.hp1 NA19056.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0027 a0001c0001t0001 a0001c0001t0003 a0001c0001t0027	a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0068 others(6): Show a0001c0001t0001g0017 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0003g0035 a0001c0001t0027g0072	9	155	0.0581	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	155	0.0065	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	155	0.0065	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCC CCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	155	0.0065	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(621): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	155	0.0065	628	c.155 others(647): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(621): Show ACACACGTACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACCGGCACACGTACACACATGCACACATGAACACATGTGCAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACACACATGCATACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCCCATACACACTGGCACACACGTACACACACATGCACAC ATGAGCACATGTGCACACATGCACATACACACTGGCACACACGTACACAC ACATGCACACATGAGCACATGTGCACACATGCACATACATACCGGCACAC GTACACACATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	350	0.0029	628	c.-25 others(639): Show c.-2546_-2545insCACACGTACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCA CATGTGCACACATGCACATACATACCGGCACACGTACACACATGCACACA TGAACACATGTGCACACGTACACACACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACGTACACACACGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACACACATGCA TACATGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACG CACACATGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTA CACACACATGCACACATGAGCACATGTGCACACATGCACATACACACTGG CACACACGTACACACACATGCACACATGAGCACATGTGCACACATGCACA TACATACCGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(621): Show CTATAGATAGACATATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	436	0.0023	628	c.-26 others(639): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(621): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	628	c.-26 others(639): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATC TATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PDGFC_chr4_156755454_156976799	156847740	A A	AAATCTAA others(621): Show AAATCTAAAGTTATTCCAAATCTTAAAGTTTAAGTTAAAACGAAGAATAA AAGCAGGAATAGGATAAAGGTATATACTAATTCAATCAACAACATAATAA GAGATAGAAAAGGAACAGTAAAAGACTCGGAAGAAAAAAATCTTTCTTCT CACAGACGATATCATCTTTTGCATAAATAAAATATAATTTCCACAACAAC TGTCAAAATAAATGAAAAAGCTTAACAAGTTTTCTAGACATAAGATCAAT ACTAAAAAATTGATTGCATTTCTAAACACCAGCAATATACAGTTAGAAAA TGTAGTGTCAAAAAAAGATTTTAGCAATAGCCTATAAGGAATCTAGAACT AACACTAAATAATGGATGTGCAACATCATTATGAATAAAATTTTAAAACC ATATAGACATTAAACAAGACTCCAATAAATGGAGCAATGTAAATAAAGTT CTCCATTTGTAAATAAAGCAATGTAAATAAAGGACAGAGTCATTATTACT GTGATGTCAGTTCTCTTCAAAATGATCTATACATTCAATGTTCTTACAAT AAAAATAACAACAGTAGTTTTCAATGAACTTTACAACTATTTCTCAAGGT TGAAAACAGTAGCTTTCAATGAACTCTAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0053 a0001c0001t0014g0053	1	208	0.0048	628	c.314 others(645): Show c.314+2480_314+2481insGTAGAGTTCATTGAAAGCTACTGTTTTC AACCTTGAGAAATAGTTGTAAAGTTCATTGAAAACTACTGTTGTTATTTT TATTGTAAGAACATTGAATGTATAGATCATTTTGAAGAGAACTGACATCA CAGTAATAATGACTCTGTCCTTTATTTACATTGCTTTATTTACAAATGGA GAACTTTATTTACATTGCTCCATTTATTGGAGTCTTGTTTAATGTCTATA TGGTTTTAAAATTTTATTCATAATGATGTTGCACATCCATTATTTAGTGT TAGTTCTAGATTCCTTATAGGCTATTGCTAAAATCTTTTTTTGACACTAC ATTTTCTAACTGTATATTGCTGGTGTTTAGAAATGCAATCAATTTTTTAG TATTGATCTTATGTCTAGAAAACTTGTTAAGCTTTTTCATTTATTTTGAC AGTTGTTGTGGAAATTATATTTTATTTATGCAAAAGATGATATCGTCTGT GAGAAGAAAGATTTTTTTCTTCCGAGTCTTTTACTGTTCCTTTTCTATCT CTTATTATGTTGTTGATTGAATTAGTATATACCTTTATCCTATTCCTGCT TTTATTCTTCGTTTTAACTTAAACTTTAAGATTTGGAATAACTTTAGATT	PDGFC	ENSG00000145431.11	transcript	ENST00000502773.6	protein_coding	2/5			chr4	TogoVar
PLEKHG4B_chr5_87168_194966	164773	A A	AGCTCACA others(621): Show AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACACTAATGCTGTGA CGGAGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CACTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGCGCTCACACTAATGCTGTGACG GGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGAGCTCACACACTAATGCTGTGACGGA GCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCT CTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACA CTAATGCTGTGACGGGGCGGGGCTTACACACTAATGCTCTGACGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01106.hp1 others(1): Show HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01256.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0012 a0001c0002t0012 a0003c0004t0084 a0001c0001t0012 a0001c0002t0012 a0003c0004t0084	a0001c0001t0012g0069 a0001c0002t0012g0066 a0001c0002t0012g0072 others(1): Show a0001c0001t0012g0069 a0001c0002t0012g0066 a0001c0002t0012g0072 a0003c0004t0084g0041	4	210	0.0191	628	c.347 others(647): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC ACTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGCGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGACGGGGCGGAGCTCACACACTAATGCTGTGACGGAG CGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTC TGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACAC TAATGCTGTGACGGGGCGGGGCTTACACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGG GGCGGAGCTCACACACTAATGCTGTGACGGAGCGGAGCTCACACTAATGC TGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCAC AC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976939	C C	CAACCCCG others(621): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCC CCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGC CTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	422	0.0024	628	c.23 others(639): Show c.2364_*2365insAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACC GCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCA ACCCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1075		chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(621): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC TTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTGTCCCATCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTC CCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC TTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0057 a0001c0022t0057	a0001c0022t0057g0139 a0001c0022t0057g0139	1	210	0.0048	628	c.439 others(647): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTC CCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCT TTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCT TCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTC TTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTC CCGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTCCCTC TCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCT CT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(621): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC TTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTC CCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC TTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00639.hp2 others(8): Show HG00438.hp1 HG00597.hp1 HG00639.hp2 HG00738.hp1 HG01106.hp2 HG01496.hp1 HG01517.hp2 HG02300.hp2 HG02698.hp1 NA19085.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0029 others(2): Show a0001c0001 a0001c0002 a0001c0029 a0002c0003 a0003c0005	a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 others(7): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0029t0065 a0002c0003t0009 a0003c0005t0001 a0003c0005t0006 a0003c0005t0009	a0001c0001t0006g0155 a0001c0001t0008g0097 a0001c0002t0001g0080 others(8): Show a0001c0001t0006g0155 a0001c0001t0008g0097 a0001c0002t0001g0080 a0001c0002t0001g0114 a0001c0002t0002g0169 a0001c0002t0003g0147 a0001c0029t0065g0131 a0002c0003t0009g0078 a0003c0005t0001g0171 a0003c0005t0006g0053 a0003c0005t0009g0136	11	210	0.0524	628	c.439 others(647): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTC CCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCT TTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCT TCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTC TTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTC CCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTC TCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCT CT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151855208	C C	CTCCACAC others(621): Show CTCCACACACACCACCCTCCACACACCACCCTCCACACACACCACCCTCC ACACACCACCCTCCACACACACCACCCTCCACACACCGCCCTCCACACAC ACCATGCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACACAC CATCCACACACCACCCTCCACACACACCATGCTCCACACACACCGCCCTC CACACACACCATGCTCCACACACACCGCCCTCCACACACACCATCCTCCA CACACACCATGCTCCACACACCACCCTCCACACACCACCCTCTACCACCC TCCACACACCACCATCCACACACACCACGCTCCACACACACCGCCCTCCA CACACACCATCCTCCACACACACCATCCTCCACACACACCACCCTCCACA CACACCGCCCTCCACACACACCGCCCTCCACACACACCGCCCTCCACACA CACCATCCTCCACACACCACCCTCCACACACCACCCTCCACACACACCAT CCACACACCACCCTCCACACACACCATGCTCCACACACACCGCCCTCCAC ACACACCATCCTCCACACACACCATGCTCCACACACCACCCTCCACACAC CACCCTCTACCACCCTCCACACACCACCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0219 a0001c0001t0004g0219	1	252	0.0040	628	c.114 others(647): Show c.114+21298_114+21299insTGGTGGTGTGTGGAGGGTGGTAGAGG GTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGTGTGTGGAGGATGGTG TGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTG TGGATGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGGATG GTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGT GTGTGTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGGAGGATGGTGT GTGTGGAGGGCGGTGTGTGTGGAGCGTGGTGTGTGTGGATGGTGGTGTGT GGAGGGTGGTAGAGGGTGGTGTGTGGAGGGTGGTGTGTGGAGCATGGTGT GTGTGGAGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCATGGTGTGT GTGGAGGGCGGTGTGTGTGGAGCATGGTGTGTGTGGAGGGTGGTGTGTGG ATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAGCAT GGTGTGTGTGGAGGGCGGTGTGTGGAGGGTGGTGTGTGTGGAGGGTGGTG TGTGGAGGGTGGTGTGTGTGGAGGGTGGTGTGTGGAGGGTGGTGTGTGTG GA	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRR22_chr19_5777960_5789746	5787211	G G	GGTCGTGG others(621): Show GGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGA GACAGTGGCAGACAGTGGGAGGTGGTGGAGATGGTGGCAGACGGTGGGAG GTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAG GTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGAT GTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAG ATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAG GTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGACGGAGAAGG TGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCG TGGGAGATGGTGGGAGGTGGTGGAGACGGTGGGAGATGGTGGGAGGTGGT GGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGT GGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGA GGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAG ACGGTGGGAGGTGGTGGGAGACAGTGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	382	0.0026	628	c.-25 others(639): Show c.-2552_-2551insTCCCACTGTCTCCCACCACCTCCCACCGTCTCCT GCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCT CCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCAC TTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCAC CTCCCACCATCTCCCACCGTCTCCACCACCTCCCACCATCTCCCACGACC TCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTC TCCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCC GCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCC ACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCC ACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCC ACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCC ACCGTCTGCCACCATCTCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2466		chr19	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(621): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGAAGGGCAGAGACGAGGGAAGGAAGGAAGGGCAGAGAGGAGGGAAGG AAGGGGTGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGA GAGGAGAGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAA GGAGGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGGGAAGGAAGTGGG GAGAGGAGGGAAGAAAGGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGG GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGAAAGGAAGGG GGAGAGGAGGGAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAGGGAGGG AGGGAGGAAGGAAGGAAGGAAGCAAGCAAGCAAGCCAAGCTGCTCAGAAG CTAACTTCAGGAAGAAGGGAGGGAAGCTAACTTCAGAAGCTAACTTCAGG AGGGAGGGAAGGAAGGAAGGGAAGAAGGAGGGAAGGGAGGTAGGAAGGAG GGAGGGAAGGGAGGAAGGGAGGAGGGAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03195.hp1 NA19030.hp1 HG02280.hp1 HG03195.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0007 a0001c0021 a0003c0006 a0001c0007 a0001c0021 a0003c0006	a0001c0007t0004 a0001c0021t0001 a0003c0006t0009 a0001c0007t0004 a0001c0021t0001 a0003c0006t0009	a0001c0007t0004g0062 a0001c0021t0001g0053 a0003c0006t0009g0051 a0001c0007t0004g0062 a0001c0021t0001g0053 a0003c0006t0009g0051	3	62	0.0484	628	c.88+ others(647): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTGGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTTCCCTCCTC TCCCCCTTCCTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCC TTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTTCTTCCCTCCT CTCCCCACTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTCCCCCC TCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCTCTC CTCTCCCCCCTTCCTTCCCTCCTCTCCCCCTTCCTTCCCTCCTCTCACCC CTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCCCTCGTCTCTGCCCTTC CTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTT CCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCC TC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RBFOX3_chr17_79084345_79616051	79245543	C C	CACTCCCG others(621): Show CACTCCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTGCCGCCGC CCACCCCCACTGCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTC CCGCCGCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCGCCGCCCACC CCCACTGCCGCCGCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCGCC GCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCAC TGCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTGCCGCCGCCCA CCCCCACTGCCGCCGCCCACCCCCACTCCCGCCGCCCACCCCCACTGCCG CCGCCCACCCCCACTCCCGCCGCCCACCCCCACTCCCGCCGCTCATCTCC AGGACTTCTTCATCTCTCCAAACCAAAGCTCTGTCCCCGTTAAACACCCA CTCTCCACTCCCCCTTCAGCCCCTGGCAACGCCCATTCTACTTTCTATCT CTATGACTTGGCCTACTCTAGGGACCCTCATTTACGTGGAATCAGATGAC ATTTGTCCTTTTGTGCCCGGCCATTTCACTCAGCATAATGTCCTCAAGGT TCATCCCTGTTGCAGCCGGGGTCAGAATT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	154	0.0065	628	c.-73 others(645): Show c.-73-9739_-73-9738insAATTCTGACCCCGGCTGCAACAGGGATG AACCTTGAGGACATTATGCTGAGTGAAATGGCCGGGCACAAAAGGACAAA TGTCATCTGATTCCACGTAAATGAGGGTCCCTAGAGTAGGCCAAGTCATA GAGATAGAAAGTAGAATGGGCGTTGCCAGGGGCTGAAGGGGGAGTGGAGA GTGGGTGTTTAACGGGGACAGAGCTTTGGTTTGGAGAGATGAAGAAGTCC TGGAGATGAGCGGCGGGAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCG GCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCGGCGGCAGTGGGG GTGGGCGGCGGCAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGC AGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGG CGGCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCGGCGGCAGTGG GGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGGAGTGGGGGTGGGCGGCG GGAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGCAGTGGGGGTG GGCGGCGGCAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCGGCGGGAGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(621): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATATATATAA TTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	170	0.0059	628	c.59- others(645): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATATATATATA CACACACACACACACACACACACACATATACATACACATATATATGTGTG TATATATACATGTATATATATGTATGTATATATGTGTATATATACATGTA TATATGTATGTATATATACGTGTATATTATGTATATATATACACATGATA TATATGTATGTATATATCATGTATATATATACATATATGTGTATATATAC ACGATATATATGTGTATATATCATGTATATATATACATGTATACAATATA TTATATATACATATATATTATATACATGTATATATACCTGTATACAATAT ATTATATATACGTGTATATAATATATATACACGTATATATATTGTATACA CGTATATATAATATATACTTTATATATAATATATACATGTATATATATAC TATATATTATATATTAATATATACATGTATAATATATACATGTATATATT ATATATACATATATATGTATATATAATATATACATATATGTACATATAAT ATACATGTCTATATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02132.hp1 HG02027.hp1 HG02132.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0231 a0002c0001t0001g0252 a0002c0001t0001g0231 a0002c0001t0001g0252	2	378	0.0053	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCACCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(52): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp1 HG02300.hp2 HG03654.hp2 HG03688.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18965.hp1 NA18968.hp1 NA18990.hp2 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19056.hp1 NA19062.hp2 NA19063.hp1 NA19082.hp2 NA19086.hp2 NA19089.hp1 NA19091.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0002 a0005	a0002c0001 a0002c0018 a0005c0019 a0002c0001 a0002c0018 a0005c0019	a0002c0001t0001 a0002c0018t0001 a0005c0019t0007 a0002c0001t0001 a0002c0018t0001 a0005c0019t0007	a0002c0001t0001g0006 a0002c0001t0001g0017 a0002c0001t0001g0018 others(46): Show a0002c0001t0001g0006 a0002c0001t0001g0017 a0002c0001t0001g0018 a0002c0001t0001g0020 a0002c0001t0001g0021 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0190 a0002c0001t0001g0195 a0002c0001t0001g0199 a0002c0001t0001g0201 a0002c0001t0001g0204 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0225 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0232 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0242 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0253 a0002c0001t0001g0256 a0002c0001t0001g0259 a0002c0001t0001g0263 a0002c0001t0001g0273 a0002c0001t0001g0275 a0002c0001t0001g0277 a0002c0001t0001g0279 a0002c0018t0001g0224 a0005c0019t0007g0236	55	378	0.1455	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0197 a0002c0001t0001g0197	1	378	0.0027	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCAT CCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0110 a0001c0006t0001g0110	1	378	0.0027	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCC ACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0338 a0001c0002t0001g0338	1	378	0.0027	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0337 a0001c0002t0001g0337	1	378	0.0027	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCC ATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACAC ACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0104 a0001c0006t0001g0107 a0001c0006t0001g0104 a0001c0006t0001g0107	2	378	0.0053	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCT ATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCACCC ACCCACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(621): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0034 a0001c0007t0005g0034	1	378	0.0027	628	c.937 others(645): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SDK1_chr7_3296252_4274000	3976544	A A	AGGGTCCC others(621): Show AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGACGGTCCTCC AGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTC CTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGG TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0051 a0001c0005t0051	a0001c0005t0051g0030 a0001c0005t0051g0030	1	116	0.0086	628	c.199 others(647): Show c.1994+2049_1994+2050insAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGA GGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(621): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	150	0.0067	628	c.77- others(645): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(621): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCC CTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	158	0.0063	628	c.22+ others(645): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCC TCCCCCCTCCCCTTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18943.hp1 NA18945.hp2 others(6): Show HG02735.hp2 NA18943.hp1 NA18945.hp2 NA18970.hp2 NA19062.hp1 NA19066.hp2 NA19078.hp2 NA19081.hp1 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0060 others(3): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0060 a0002c0002t0001g0067 a0002c0002t0001g0077 a0002c0002t0001g0078	9	445	0.0202	628	c.-37 others(639): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(621): Show AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACA GTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAG GGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	445	0.0023	628	c.-37 others(639): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCA GGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar

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Search Results (Total: 10000 hits)