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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ULK1_chr12_131889622_131928150	131917123	G G	GTCGGGTG others(569): Show GTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	344	0.0029	576	c.218 others(591): Show c.2182+65_2182+66insGTGGGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(569): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGCTCG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0269 a0001c0003t0003g0269	1	344	0.0029	576	c.218 others(593): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(569): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCAGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0293 a0001c0003t0003g0293	1	344	0.0029	576	c.218 others(593): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCAGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGGTTCG others(569): Show CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA19062.hp1 NA18747.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0017 a0001c0003t0003 a0001c0003t0017	a0001c0003t0003g0284 a0001c0003t0017g0285 a0001c0003t0003g0284 a0001c0003t0017g0285	2	344	0.0058	576	c.218 others(593): Show c.2182+158_2182+159insGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VCX3A_chrX_6528618_6540118	6532756	C C	CCTCCCCA others(569): Show CCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCT CCCTCCCTCCCTCCCTCCCCACACACCTCCTCTCCCTCCCTCCCTCCCTC CCCACACACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCTCC TCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACA CACCTCTTCCTCCCTCCCTCCCCACACACCTCCTCTCCCTCCCTCCCTCC CCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCC TCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC CTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTC CTCCCTCCCTCCCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	74	0.0135	576	c.98 others(585): Show c.988_*989insAGGTGGTGTGTGGGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		861		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(569): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	408	0.0025	576	c.53+ others(591): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCTATCGATAGATAGATGTATCTATC GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
ABCB5_chr7_20610667_20762008	20668755	A A	AGTCCGGG others(570): Show AGTCCGGGAGGGAGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCATCCGGGAGGGGGGTGGGGGGGGTCAGCCCCCTGCCCGGCCA GCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGGCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGGGGGTGGAGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19060.hp1 NA18952.hp1 NA19060.hp1	a0003 a0003	a0003c0002 a0003c0010 a0003c0002 a0003c0010	a0003c0002t0001 a0003c0010t0002 a0003c0002t0001 a0003c0010t0002	a0003c0002t0001g0315 a0003c0010t0002g0316 a0003c0002t0001g0315 a0003c0010t0002g0316	2	360	0.0056	577	c.170 others(598): Show c.1707+10089_1707+10090insGAGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTGGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGC CCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGGC CCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGGGGTGGAGGGGTCAGCCCC CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGG AGG	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(570): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	577	c.-10 others(588): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(570): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	577	c.-10 others(588): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATATATA AATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATAT TTATATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGAGGA others(570): Show GGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGG GGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAG GGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAG GAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGAGGGGGGGAGG AGGAGGGGGGAGGAGGGGGGGGAGGAGGGGGGGGAGGAGGGGGGGAGGGG GAGGGGGAGGGGGAGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAG GAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGG AGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0301 a0001c0001t0022g0301	1	301	0.0033	577	c.125 others(598): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCC TCCTCCTCCCCCCCTCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCTCCC CCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCTCCCCCT CCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCT TCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACC TCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCT CCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(570): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGA GGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAGGAGGAGGGGGGAGGAGGG GGGGGAGGAGGGGGGGAGGAGGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGG GGGGGAGGAGGAGGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGG AGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGGG AGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	301	0.0033	577	c.125 others(598): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCC CCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCC TCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCCCTCCTCCTC CCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCT CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCCCCCCCTCCTC CCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCTCCCCCTC CCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCTT CTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTT CCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCT CCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTC CCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAG others(570): Show ATATATAGTTTATATATATATACTATATATATAGTTTATATATATATACT ATATATAGTTTATATATATATACTATATATAGTATATATATACTATATAT ATACTATATATATAGTTTATATATATATACTATATATATAGTTTATATAT ATACTATATATATAGTTTATATATATACTATATATATAGTTTATATATAT ATACTATATATATAGTTTATATATATATACTATATATATAGTATATATAT ATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTTAT ATATATATATACTATATATATAGTATATATATATATAAACTATATATATA GTTTATATATATATAAACTATATATATAGTTTATATATATATAAACTATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATATATAT ACTATATATATAGTTTATATATATATATACTATATATATAGTTTATATAT ATATACTATATATATAGTTTATATATATATATACTATATATATAGTTTAT ATATATATATACTATATATATAGTTTAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	304	0.0033	577	c.331 others(596): Show c.3314-1170_3314-1169insATAAACTATATATATAGTATATATAT ATATAAACTATATATATAGTATATATATATATAAACTATATATATAGTAT ATATATATAAACTATATATATAGTATATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTATATATATATATAAACTATA TATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAA ACTATATATATAGTTTATATATATATATACTATATATATAGTATATATAT ATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTT ATATATATATACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATATAAACTATATATATAGTATATATATAAACTATATATATAGT ATATATATAAACTATATATATAGTATATATATATAAACTATATATATAGT ATATATATAGTATATATATACTATATATAGTATATATATATAAACTATAT ATAGTATATATATATAAACTATATATATAGTATATATATATAAACTATAT A	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
BZW2_chr7_16641181_16711517	16708086	C C	CTCCTGCC others(570): Show CTCCTGCCTCAGCCTCCGTTTGAAAAATCATCTATATGTGAGAATGCTAT TTTCATTGCACAAGAAATAATGACAGGACAACTGTGGCCAAGAAGAAAGT CATAGAATAAAGAGCTTATGTCACCTTGGAGTGCTTAGCATAGTCCTGGA GGTAACATATATATTCTGTCCTAAAATTGACCTACTGGATGATGTCCCTC TTTCATATGCTGATTTTCCTTCCCGGACTTCCCTTCATGGTTGGCTTCCT CCTATTTTATAAAAGAAAGTACTAATGCATCCATTCCAATATGGTACACT GCCCCAAGGATGACAAGCACATGGCATTAAACAAAGGGACAGTTCTAGAA TGTGTGGCTCTTTTAGGCTAGTCCCTTGAGAGAAAAGCTGGAAACTGATG GGAGAGGTGGCTGATTTCTAACAGGCCATCAATTCGTGGCAAGTCTCCAT TATCTATCTACTCTTCCATCTGTCTTTTTTTTTTTTTTTTAGAGACAGAG TCTTGCTCTGCCACCCAGGCTGTAGTGCAGTGGCACTATCTTGACTCACT GCAACCTCTGCCTGGGTTCAAGCGATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	418	0.0024	577	c.19 others(588): Show c.1998_*1999insTCCTGCCTCAGCCTCCGTTTGAAAAATCATCTAT ATGTGAGAATGCTATTTTCATTGCACAAGAAATAATGACAGGACAACTGT GGCCAAGAAGAAAGTCATAGAATAAAGAGCTTATGTCACCTTGGAGTGCT TAGCATAGTCCTGGAGGTAACATATATATTCTGTCCTAAAATTGACCTAC TGGATGATGTCCCTCTTTCATATGCTGATTTTCCTTCCCGGACTTCCCTT CATGGTTGGCTTCCTCCTATTTTATAAAAGAAAGTACTAATGCATCCATT CCAATATGGTACACTGCCCCAAGGATGACAAGCACATGGCATTAAACAAA GGGACAGTTCTAGAATGTGTGGCTCTTTTAGGCTAGTCCCTTGAGAGAAA AGCTGGAAACTGATGGGAGAGGTGGCTGATTTCTAACAGGCCATCAATTC GTGGCAAGTCTCCATTATCTATCTACTCTTCCATCTGTCTTTTTTTTTTT TTTTTAGAGACAGAGTCTTGCTCTGCCACCCAGGCTGTAGTGCAGTGGCA CTATCTTGACTCACTGCAACCTCTGCCTGGGTTCAAGCGATTT	BZW2	ENSG00000136261.16	transcript	ENST00000258761.8	protein_coding		1570		chr7	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(570): Show ATGATGGTGATGATGGGGTGATGTGTGATGGTGGTGAGAGTGGTGGTGGG GGGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTG ATGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGT GGTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGA TGGGGGTGACAGTGGTGGTGATGATGGTGGTGTTGGTGATGGTGGTGATG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGT GATAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGA TGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTG ATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGA TGGTGGTGATGGTGATGGTGGCGTGATGGTGGTGATGGTGGTGTGTGGTG ATGGTGATGGTGGTGATGGTGGGGTGAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	292	0.0034	577	c.21 others(592): Show c.21-379_*21-378insATCACCCCACCATCACCACCATCACCATCA CCACACACCACCATCACCACCATCACGCCACCATCACCATCACCACCATC ACCACCATCACCACCATCATCACCACCACCACCACCATCACCACCATCAT CACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCA CCACCATCACCGTCACCACCATCACCACCACCACCATCACCACCATCATC ACCATCACCACCACCATCACCACCACCATCACCACCATCATCACTATCAC CACCATCACCACCATCATCACCACCACCACCACCACCATCACCACCACCA TCACCACCATCACCAACACCACCATCATCACCACCACTGTCACCCCCATC ATTACCATCACCACCACCACCACCACCACCATGACCACCACCACCACCAC TCTCACCATCATCATCACTGTCACCACCACCACCACCACCACCACCATCA CTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCACCCCC CACCACCACTCTCACCACCATCACACATCACCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CD247_chr1_167425640_167523529	167435070	T T	TTCCTCCG others(570): Show TTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTC CTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCC TCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCT CCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTCCTCCGGAGCCCTCCTC CAGCCCTTCCTCCAGCCCTTCCTCCGAAGCCCTCCTCCAGCCCTTCCTCC GGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCC AGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCA GCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGG AGCCCTCCTCCAGCCCTTCCTCCAGCCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	374	0.0027	577	c.336 others(592): Show c.336+328_336+329insGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGG AGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAGGGCTTCGGAGGAAGGGCTGGAGGAAGGGCTGGA GGAGGGCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAG GAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGG AAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGA GGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGA AGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAA GGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGG GCTCCGGAGGAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CDC42SE2_chr5_131259053_131399672	131278733	C C	CTCCCCTC others(570): Show CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCTCACCCCTCCCCCTCCCCTCCCCTCCCC TACCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCC ACCCCCTCCCCTCCCCACCCCCTCCCCTCCCCCTCCCCCTCCCTCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCTCC CCCCTCCCCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCCCCCC TCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCTCCCTCCCCCTCCCTCCCCCTCCCTCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTC CCCCTCCTCTCCCCCTCCTTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	256	0.0039	577	c.-45 others(598): Show c.-455+14567_-455+14568insTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTCA CCCCTCCCCCTCCCCTCCCCTCCCCTACCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCCCCTCCCCTCCCACCCCCTCCCCTCCCCACCCCCTCC CCTCCCCCTCCCCCTCCCTCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCACCCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCTCCCCCTCC CTCCCCCTCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTTCCCCT CCT	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4			chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(570): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	256	0.0039	577	c.-45 others(598): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTC CCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(570): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	256	0.0039	577	c.-45 others(598): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCCTC CCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61329441	T T	TTGCCTCG others(570): Show TTGCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTG CTGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCC CTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGC GGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCCCTCG TGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTG GATTGCAGCATGCGTGGAGGGCACCCAGATCCTCATGGTCCCCCCATGGG TCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATT GCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTG GGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAG CATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGGGAC GCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCGGCATG CGTGGAGGGCACCCAGGTCCTCATGGTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18522.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0038 a0001c0001t0009 a0001c0001t0038	a0001c0001t0009g0013 a0001c0001t0038g0092 a0001c0001t0009g0013 a0001c0001t0038g0092	2	106	0.0189	577	c.169 others(596): Show c.169+74504_169+74505insTGCCTCGTGGGTCTGGGACGCGGGTC GAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCGTGGAG GGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGTCGAGG TGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCGTGGAGGGCA CCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGC TTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCA GATCCTCATGGTCCCCCCATGGGTCTGGGACGCGGGTCGAGGTGGCTTTA AGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTC CTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCC CAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCA TGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGT GTGCTGCGGTGGATTGCGGCATGCGTGGAGGGCACCCAGGTCCTCATGGT C	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH4_chr20_61247261_61945617	61329441	T T	TTGCCTCG others(570): Show TTGCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTG CTGCGGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCC CTCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGC GGTGGATTGCAGCGTGCGTGGAGGGCACCCAGGTCCTCATGGTTCCCTCG TGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTG GATTGCAGCATGCGTGGAGGGCACCCAGATCCTCATGGTTCCCCCATGGG TCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATT GCAGCATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTG GGACGCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAG CATGCGTGGAGGGCACCCAGGTCCTCATGGTCCCCCCGTGGGTCTGGGAC GCGGGTCGAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCGGCATG CGTGGAGGGCACCCAGGTCCTCATGGTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG02055.hp2 others(14): Show HG00639.hp2 HG01081.hp2 HG02055.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02922.hp2 HG03139.hp1 HG03453.hp2 HG03704.hp2 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(5): Show a0001c0001 a0001c0003 a0001c0006 a0001c0021 a0001c0023 a0002c0002 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0019 a0001c0001t0048 a0001c0003t0001 a0001c0003t0043 a0001c0003t0054 a0001c0006t0006 a0001c0021t0008 a0001c0023t0044 a0002c0002t0005 a0002c0002t0013 a0002c0004t0003 a0002c0004t0033 a0002c0005t0015	a0001c0001t0001g0006 a0001c0001t0002g0076 a0001c0001t0018g0039 others(14): Show a0001c0001t0001g0006 a0001c0001t0002g0076 a0001c0001t0018g0039 a0001c0001t0019g0091 a0001c0001t0048g0085 a0001c0003t0001g0038 a0001c0003t0043g0081 a0001c0003t0054g0086 a0001c0006t0006g0029 a0001c0021t0008g0047 a0001c0023t0044g0084 a0002c0002t0005g0022 a0002c0002t0005g0096 a0002c0002t0013g0017 a0002c0004t0003g0093 a0002c0004t0033g0095 a0002c0005t0015g0069	17	106	0.1604	577	c.169 others(596): Show c.169+74504_169+74505insTGCCTCGTGGGTCTGGGACGCGGGTC GAGGTGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCGTGGAG GGCACCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGTCGAGG TGGCTTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCGTGCGTGGAGGGCA CCCAGGTCCTCATGGTTCCCTCGTGGGTCTGGGACGCGGGTCGAGGTGGC TTTAAGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCA GATCCTCATGGTTCCCCCATGGGTCTGGGACGCGGGTCGAGGTGGCTTTA AGCCCAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTC CTCATGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCC CAGTGTGCTGCGGTGGATTGCAGCATGCGTGGAGGGCACCCAGGTCCTCA TGGTCCCCCCGTGGGTCTGGGACGCGGGTCGAGGTGGCTTTAAGCCCAGT GTGCTGCGGTGGATTGCGGCATGCGTGGAGGGCACCCAGGTCCTCATGGT C	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356957	G G	GTGAGTGA others(570): Show GTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGCGAGTGGAGGTAGTCACAC TGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACT GAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGATGGTCACAC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0143 a0002c0002t0001g0143	1	236	0.0042	577	c.351 others(596): Show c.3514-3249_3514-3248insTGAGGAGGTAGTCACACTGAGGGGAA GTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTG CGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGG TGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGT GAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGT GAGGGGAGATGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGA G	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357451	A A	ACTGAGGG others(570): Show ACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACA GTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAG GTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAAGTAGTCAC ACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATA CTGCGAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAC TGTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAGGTGGTCATACT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0199 a0001c0003t0001g0199	1	236	0.0042	577	c.351 others(596): Show c.3514-2759_3514-2758insCTGAGGGGAGGTGGTCACAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCAT ACTGTGAGTGAGGAAGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGT CACACTGAGGGGAGGGGGTCATACTGCGAGTGGAGGTAGTCACACTGTGA AGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTC ACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGGTCACACTGAGGG GAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATAC T	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357810	T T	TACTGAGG others(570): Show TACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCAC ACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACA CTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAG TGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGA GGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAG GTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAG TGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGGGA GGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0009 a0001c0012t0006g0009	1	236	0.0042	577	c.351 others(596): Show c.3514-2359_3514-2358insCTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCA CACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CACTGAGGAGAGGTGGTCATAGTGTGCGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCAC A	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(570): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0167 a0001c0016t0001g0167	1	428	0.0023	577	c.217 others(592): Show c.2176-73_2176-72insCCGGCCCCGTGCCCTTCTCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTN6_chr3_1088024_1409217	1175440	C C	CAGTCTAC others(570): Show CAGTCTACTCAAGGCTAACAGCAGGTTAGCCAATTGCAGATAGCAACTGG GAGCACAGCAGATGAGGCAGCAGGGAGAGGCAGGGACCAAACTATATAGG ACTTTGTAGGTCCTTTTACTACTTTATTACTAAGGATACTTTACTATATT GTAAAACAATATGAAGTTATTAAAGACTTTCTAGCTGCAAGAGGGCAGTA GAGCAGGAGAGGCAAACAACAAAGACATTATCTGATTTGTATATGCAAAA GACCCCATTGGCTACTCTTTGGTGAATATATTGTGAGAGTGGAAAGAATG AGAATTAAAAGGCAGTCATAGAAATCAATTAAAAGGCAATCATAGAAAGT GAGACTTTGTCTCAAAAAAAAAAAAAAAAAAAAAGACATATCTTTAAGAG CATGTAAAAGGAAAATTCCACTTGATCTAAGGAGTTCAAATAACACTACC ATAAAAAATTGACTTTCTAACTAAAATGTGAATAAAATTTTACCAATGAT TAGATACAGTGGAGAAGAGGCATTTAGGGTATAGGCAAAAACAAACAAAC AAAAGAACAAAGTGAGGTATGGGAGAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00733.hp2 others(10): Show HG00140.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG01071.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG02015.hp1 HG02717.hp1 HG03834.hp2 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0005t0002 a0001c0008t0001	a0001c0001t0001g0126 a0001c0002t0001g0098 a0001c0002t0001g0116 others(10): Show a0001c0001t0001g0126 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0005g0050 a0001c0003t0001g0040 a0001c0003t0001g0101 a0001c0004t0001g0066 a0001c0004t0001g0123 a0001c0005t0002g0115 a0001c0008t0001g0167 a0001c0008t0001g0169	13	232	0.0560	577	c.55+ others(594): Show c.55+27378_55+27379insGTCTACTCAAGGCTAACAGCAGGTTAGC CAATTGCAGATAGCAACTGGGAGCACAGCAGATGAGGCAGCAGGGAGAGG CAGGGACCAAACTATATAGGACTTTGTAGGTCCTTTTACTACTTTATTAC TAAGGATACTTTACTATATTGTAAAACAATATGAAGTTATTAAAGACTTT CTAGCTGCAAGAGGGCAGTAGAGCAGGAGAGGCAAACAACAAAGACATTA TCTGATTTGTATATGCAAAAGACCCCATTGGCTACTCTTTGGTGAATATA TTGTGAGAGTGGAAAGAATGAGAATTAAAAGGCAGTCATAGAAATCAATT AAAAGGCAATCATAGAAAGTGAGACTTTGTCTCAAAAAAAAAAAAAAAAA AAAAGACATATCTTTAAGAGCATGTAAAAGGAAAATTCCACTTGATCTAA GGAGTTCAAATAACACTACCATAAAAAATTGACTTTCTAACTAAAATGTG AATAAAATTTTACCAATGATTAGATACAGTGGAGAAGAGGCATTTAGGGT ATAGGCAAAAACAAACAAACAAAAGAACAAAGTGAGGTATGGGAGAAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
COL18A1_chr21_45400165_45518720	45431488	A A	AGGGGGGC others(570): Show AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG GCAGGCAGGACCCGGCGGCCCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02723.hp1 others(5): Show HG02258.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG03130.hp1 HG03209.hp2 HG03579.hp1 NA18906.hp2	a0001 a0008 a0001 a0008	a0001c0019 a0001c0022 a0001c0027 others(1): Show a0001c0019 a0001c0022 a0001c0027 a0008c0018	a0001c0019t0003 a0001c0022t0001 a0001c0027t0001 others(1): Show a0001c0019t0003 a0001c0022t0001 a0001c0027t0001 a0008c0018t0005	a0001c0019t0003g0139 a0001c0022t0001g0021 a0001c0022t0001g0131 others(5): Show a0001c0019t0003g0139 a0001c0022t0001g0021 a0001c0022t0001g0131 a0001c0027t0001g0019 a0001c0027t0001g0020 a0008c0018t0005g0067 a0008c0018t0005g0130 a0008c0018t0005g0132	8	292	0.0274	577	c.106 others(596): Show c.106+26020_106+26021insGCAGGCAGGACCCGGCGGCCCAGGGG AGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACC CGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGG GGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGC GGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGC AGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCC CAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGC AGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGG GGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGA CCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAG GGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCG GCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGG G	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255582	C C	CAGGCAGG others(570): Show CAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGCAGGAAGGGAAGGGGGCAGGCA GGAAGGGAGGGGGCAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0180 a0003c0012t0001g0180	1	344	0.0029	577	c.85- others(594): Show c.85-12849_85-12848insTCCCCCTTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTGCCCCCTCCCTTCC TGCCTGCCCCCTTCCCTTCCTGCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(570): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAG GCAGGAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAA GGGAGGGGGCAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAGGGGGAAG GCAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGA GGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0138 a0001c0006t0001g0138	1	344	0.0029	577	c.85- others(594): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGC CTTCCCCCTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTCCC TTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTT CCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(570): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGAAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0086 a0003c0086	a0003c0086t0001 a0003c0086t0001	a0003c0086t0001g0219 a0003c0086t0001g0219	1	344	0.0029	577	c.85- others(594): Show c.85-12974_85-12973insCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCTGCCCC CTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875254	C C	CCCACCCC others(570): Show CCCACCCCCACCCTCACCCCCACCCCCCACCCCCACCCCCACCCCCACCC GCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCAC CCCCACCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCC CCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCACCCC CACCCCCACCCCCACCCCCACCCCCACCCGCACCCTCACCCCCACCCCCA CCCTCACCCCCACCCCCACCCGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0023	1	320	0.0031	577	c.39 others(588): Show c.3978_*3979insCGGGTGCGGGTGGGGGTGGGGGTGAGGGTGGGGG TGGGGGTGAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGG GGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGGTGGGGGTGAGGGTGGGGGTGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2488		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(570): Show GCACCCGCACCCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCG CACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCA CCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACC CCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCT CACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCA CCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACC CCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCG CACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACC CCCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCT CACCCCCACCCTCACCCGCACCCGCACCCCCACCCCCACCCCCACCCTCA CCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0190 a0010c0013t0001g0190	1	320	0.0031	577	c.39 others(588): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(570): Show GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGG GGAGAAGAAGGGAGAAGAAGGGAGTGGAGGGGAGGGGAGGGGAGGGGAGG GGAGAAGAAGGGAGAAGAAGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAAGGGAGGGGAAGGGAGG GGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAG AGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGG CGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGG CGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGAGAGGGGCGGGG CGGGGCGGGGCGGGGCGGGGCGGGGCGGGGAGGGGCAGACGGGGAGGGGA GGGGCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0078 a0001c0004t0003g0078	1	88	0.0114	577	c.158 others(594): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCGCCCCGCCCCGCCCCGCCCCGCCCCG CCCCGCCCCTCTCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCG CCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCG CCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCT CTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCC CCTCCCTTCCCCTCCCTTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCTTCTTCTCCCTTCTTCTCC CCTCCCCTCCCCTCCCCTCCCCTCCACTCCCTTCTTCTCCCTTCTTCTCC CCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCC CCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCC CCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89619053	C C	CAGCTCCC others(570): Show CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCT CCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCC CCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCCTGCCCCCCCGCTCCCCTCCCTGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	250	0.0040	577	c.-10 others(596): Show c.-107+5337_-107+5338insTCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAG C	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYSF_chr2_71448561_71691763	71618604	G G	GGTGTGTG others(570): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0171 a0001c0011t0001g0171	1	192	0.0052	577	c.441 others(596): Show c.4410+5197_4410+5198insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGT G	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618604	G G	GGTGTGTG others(570): Show GGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGTGGAGTAGAGGTGT GTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGGGTGTGT GTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTTTGGTGGAGGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTT TGTGTGGGGTAGAGTTGTGTTTGTGTGGGGTAGAGTTGTGTGTGTGTGGT AGAGGTGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGAGTAG AGGTGTGTGTGTGTGGTGGAGGTGGTGTGTGTGTGTGTGTGGTAGAGGTG GTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGTGGGGGTGTGTG TGTGTGGTAGAGGTGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTA GAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGG TGTGTGTGTTTGTGTGGGGTAGAGTTGT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0178 a0001c0008t0002g0178	1	208	0.0048	577	c.446 others(596): Show c.4465-1940_4465-1939insTGTGTGTGGTAGAGGTGGAGTGTGTG TGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGT GTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGGTAGA GGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGT GTGTTTGGTGGAGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGT AGAGGTGGAGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGTTTGTGTGGGG TAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGG AGTGTGTGTGTGTGGAGTAGAGGTGTGTGTGTGTGGTGGAGGTGGTGTGT GTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGTGTGTGT GGTAGAGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGGTAGA GGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGGTGTG TGTGTGTGTGGTAGAGGTGGTGTGTGTGTTTGTGTGGGGTAGAGTTGTGT G	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(570): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCT CCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCG CCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCC TCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTC TTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTC CTCTCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	234	0.0043	577	c.489 others(596): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCC TTTCCTCCTCCTCCTCCTCCTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTAAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTC TTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCC TCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCT CTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCC T	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(570): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCT TCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCC TCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTC TTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTC CTCTCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0075 a0002c0002t0075	a0002c0002t0075g0174 a0002c0002t0075g0174	1	234	0.0043	577	c.489 others(596): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCC TTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTC TTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCC TCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCT CTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCC T	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(570): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCT TCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGAACTCTTGACCTCATGATCC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCC TCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTC TTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTC CTCTCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03540.hp2 HG01884.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0087 a0001c0001t0086 a0001c0001t0087	a0001c0001t0086g0012 a0001c0001t0087g0013 a0001c0001t0086g0012 a0001c0001t0087g0013	2	234	0.0086	577	c.489 others(596): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCC TTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAA CTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTC TTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCC TCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCT CTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCC T	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(570): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCT TCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCG CCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCC TCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTC TTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTC CTCTCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00639.hp2 others(64): Show HG00140.hp2 HG00280.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02572.hp2 HG02602.hp2 HG02735.hp2 HG02965.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18969.hp2 NA18979.hp1 NA18979.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19011.hp2 NA19079.hp1 NA20905.hp2	a0001 a0007 a0008 others(1): Show a0001 a0007 a0008 a0010	a0001c0001 a0001c0014 a0007c0008 others(2): Show a0001c0001 a0001c0014 a0007c0008 a0008c0006 a0010c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(23): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0056 a0001c0001t0072 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0088 a0001c0001t0090 a0001c0001t0091 a0001c0014t0004 a0007c0008t0079 a0008c0006t0002 a0010c0011t0002	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 others(62): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0018 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0004g0058 a0001c0001t0004g0070 a0001c0001t0004g0072 a0001c0001t0004g0144 a0001c0001t0005g0030 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0021g0005 a0001c0001t0022g0064 a0001c0001t0022g0065 a0001c0001t0023g0069 a0001c0001t0024g0001 a0001c0001t0026g0002 a0001c0001t0026g0063 a0001c0001t0028g0042 a0001c0001t0028g0047 a0001c0001t0056g0046 a0001c0001t0072g0037 a0001c0001t0077g0055 a0001c0001t0078g0067 a0001c0001t0080g0004 a0001c0001t0081g0002 a0001c0001t0082g0044 a0001c0001t0083g0038 a0001c0001t0084g0025 a0001c0001t0085g0068 a0001c0001t0088g0029 a0001c0001t0090g0021 a0001c0001t0091g0125 a0001c0014t0004g0024 a0007c0008t0079g0043 a0008c0006t0002g0007 a0010c0011t0002g0053	67	234	0.2863	577	c.489 others(596): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCC TTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTAAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTC TTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCC TCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCT CTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCC T	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM83F_chr22_39989954_40048534	40007327	T T	TCTCCTCC others(570): Show TCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCCTCCTGCTTGCCTCCT CCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCCTTTCCTCCTCCTCCTCCT TCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGG GGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCC ACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTCTTCCTCCTCTCCTCCTCC TCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCCTCTCCTCCTCTCCCTTTC TTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCTCTTCCTGTCCTCCTCCTC CTCTCCTCTTCCTCCTCCTCTTCTCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp1 others(68): Show HG00140.hp1 HG00280.hp2 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA19005.hp2 NA19030.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0002c0002 a0002c0010 others(2): Show a0001c0001 a0002c0002 a0002c0010 a0004c0004 a0012c0005	a0001c0001t0017 a0001c0001t0029 a0001c0001t0047 others(28): Show a0001c0001t0017 a0001c0001t0029 a0001c0001t0047 a0001c0001t0048 a0002c0002t0001 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0014 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0057 a0002c0002t0058 a0002c0002t0059 a0002c0002t0060 a0002c0002t0062 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0073 a0002c0010t0010 a0004c0004t0001 a0012c0005t0089	a0001c0001t0017g0014 a0001c0001t0017g0015 a0001c0001t0029g0135 others(65): Show a0001c0001t0017g0014 a0001c0001t0017g0015 a0001c0001t0029g0135 a0001c0001t0029g0136 a0001c0001t0047g0090 a0001c0001t0048g0091 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0096 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0214 a0002c0002t0007g0155 a0002c0002t0007g0157 a0002c0002t0007g0158 a0002c0002t0007g0166 a0002c0002t0007g0173 a0002c0002t0007g0176 a0002c0002t0010g0009 a0002c0002t0010g0159 a0002c0002t0010g0161 a0002c0002t0011g0154 a0002c0002t0011g0198 a0002c0002t0011g0201 a0002c0002t0011g0202 a0002c0002t0014g0168 a0002c0002t0014g0169 a0002c0002t0014g0170 a0002c0002t0014g0175 a0002c0002t0015g0097 a0002c0002t0015g0100 a0002c0002t0018g0186 a0002c0002t0018g0188 a0002c0002t0019g0208 a0002c0002t0031g0143 a0002c0002t0034g0099 a0002c0002t0035g0098 a0002c0002t0057g0213 a0002c0002t0058g0187 a0002c0002t0059g0171 a0002c0002t0060g0073 a0002c0002t0062g0167 a0002c0002t0063g0211 a0002c0002t0064g0141 a0002c0002t0065g0199 a0002c0002t0066g0189 a0002c0002t0067g0172 a0002c0002t0068g0082 a0002c0002t0069g0209 a0002c0002t0073g0212 a0002c0010t0010g0160 a0004c0004t0001g0142 a0004c0004t0001g0145 a0004c0004t0001g0150 a0004c0004t0001g0153 a0004c0004t0001g0156 a0012c0005t0089g0131	71	234	0.3034	577	c.489 others(596): Show c.489+11801_489+11802insCCTCCTCTCCTCTCCTCCTCCTCTCC TCCTCCTGCTTGCCTCCTCCTCTCTTCCTCCTCTCCTCCTCTTCTGCTCC TTTCCTCCTCCTCCTCCTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCTGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCTTGACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTCCTCCTTCTTTCCTCCTCCTCTC TTCCTCCTCTCCTCCTCCTCCTCTCCTCTCCTCCTCCTCTCCTCTCCTCC TCTCCTCCTCTCCCTTTCTTCTTCCTCTCCTCCTCTTCTCCTCCTCTCCT CTTCCTGTCCTCCTCCTCCTCTCCTCTTCCTCCTCCTCTTCTCCTCCTCC T	FAM83F	ENSG00000133477.17	transcript	ENST00000333407.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(570): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATTTACATA CATATAAATATATATTTACATACATATAAATATATATTTACATACATATA AATATATACATTTATATACATATAAATATATACATATATACATATAAATA TATATTTATATACATATAAATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATACATATAAATATATATTTATATACATATAAATATATAATTATATACA TATAAATATATAATTATATACATATAAATATATATAATTATATACATATA AATATATATTTATATACATATAAATATATATTTATATACATATAAATTTA TATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0283 a0004c0006t0001g0283	1	292	0.0034	577	c.49 others(588): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAAATATATATTTATATG TATATAATTATATATATTTATATGTATATAATTATATATTTATATGTATA TAATTATATATTTATATGTATATAAATATATATTTATATGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATTTATATGTATATAAATATATATTTA TATGTATATATGTATATATTTATATGTATATAAATGTATATATTTATATG TATGTAAATATATATTTATATGTATGTAAATATATATTTATATGTATGTA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(570): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATATATTTATATGTATATAAATATATATATATTTGTATATATA TATAAATATATATATATTTATATATATATAAATATATATATATTTATATA TATATACATATAAATATATATTTATATACATATAAATATATAATTATATA CATATAAATATATAATTATATACATATAAATATATATAATTATATACATA TAAATATATATTTATATACATATAAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	292	0.0034	577	c.49 others(588): Show c.4960_*4961insAATTTATATGTATATAAATATATATTTATATGTA TATAATTATATATATTTATATGTATATAATTATATATTTATATGTATATA ATTATATATTTATATGTATATAAATATATATTTATATGTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TACAAATATATATATATTTATATACATATAAATATATATAAATATATATA TTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTATA TGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTA TGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586376	A A	AGACCACA others(570): Show AGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGAC CACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGT CAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCA AAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCGGGGGGGAAAGGAGGAGAGGGGG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	308	0.0033	577	c.157 others(594): Show c.1576+203_1576+204insAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGG TGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTA GGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCG GGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTGAAAGGTGGGCGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(570): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCC GCCCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	577	c.31 others(588): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGCACAGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GP6_chr19_55008705_55043264	55019678	C C	CTTTTTTT others(570): Show CTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCGTCCAGGC TGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGT TCACACCATTATCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCAC CTGCCATCACGCCTGGCCAACTTTTTTTTTTGTACTTTAGTAGAGGCGGG GTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCA CCCTCCTTGGCCTCTCAAAGTGCTGGGATTACAGGCTGCGCCTGGCCACA GACTGTTTTTCAAAGCAGCTGCACCATTTTATATTCCCACCAGCAATATA AGAAGGTTCTTCCAAATCCTCACCAATACTTCTTGTCCGTTTGTTTTGTT TTAAAAATCATAGTCATCCTAGTTGGCATGGTGAATTTTATGGTATGTGA ATTATATCTCAGTTTGAATAATAAGATGTGGATCCATGTCTTCGTGAGCC TAGAGGAAGAATGAGCTCGTGTTAGCCTCAGAACACGGGATCTCCACCTT CCAACTTAGGCCATTTTCTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	441	0.0023	577	c.665 others(592): Show c.665-968_665-967insAAGAAAAAAAGAAAATGGCCTAAGTTGGAA GGTGGAGATCCCGTGTTCTGAGGCTAACACGAGCTCATTCTTCCTCTAGG CTCACGAAGACATGGATCCACATCTTATTATTCAAACTGAGATATAATTC ACATACCATAAAATTCACCATGCCAACTAGGATGACTATGATTTTTAAAA CAAAACAAACGGACAAGAAGTATTGGTGAGGATTTGGAAGAACCTTCTTA TATTGCTGGTGGGAATATAAAATGGTGCAGCTGCTTTGAAAAACAGTCTG TGGCCAGGCGCAGCCTGTAATCCCAGCACTTTGAGAGGCCAAGGAGGGTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCCAACATGGTGAAACCC CGCCTCTACTAAAGTACAAAAAAAAAAGTTGGCCAGGCGTGATGGCAGGT GCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGATAATGGTGTGAAC CCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGC CTGGACGACAGAGTAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	5/7			chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(570): Show TATATATATGGAATATATATATACGGAATATATATATAATATATATGGAA TATATATAAACGGAATATATATATAATATATATACGGAATATATATATAC GGAATATATATAATATATATACGGAATATATATAATATATATATAATATA TATACGGAATATATATATAATATATAAATGGAATATATATACGGAATATA TATATAATATATAAATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATATACGG AATATATATATAATATATATATGGAATATATATATACGGTATATATATAA TATATATATGGAATATATATATACGGAATATATATATAATATATATATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAC GGAATATATATATATGGAATATATATATATGGAATGTGTATATATGGAAT ATATATATATGGAATGTGTATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	323	0.0031	577	c.-21 others(588): Show c.-2144_-2143insATATATATGGAATATATATATACGGAATATATAT ATAATATATATGGAATATATATAAACGGAATATATATATAATATATATAC GGAATATATATATACGGAATATATATAATATATATACGGAATATATATAA TATATATATAATATATATACGGAATATATATATAATATATAAATGGAATA TATATACGGAATATATATATAATATATAAATGGAATATATATATACGGAA TATATATATAATATATATATGGAATATATATATACGGAATATATATATAA TATATATATGGAATATATATATACGGAATATATATATAATATATATATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGTATATATATAATATATATATGGAATATATATATACGGAATATATAT ATAATATATATATGGAATATATATATACGGAATATATATATAATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATATATGGAAT GTGTATATATGGAATATATATATATGGAATGTGTATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173145	T T	TCCCTCTC others(570): Show TCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTC TCTCTCTCCCCCTCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCTTC CCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCC CCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTC CCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCCTCCCCCTCCCCCTCC CCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCTGTCCCCCTCCCC TCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCCTCCCCCTCCCCCTC CCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC CTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTGTCTCTCTCTCCCCCTCCTTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0134 a0004c0011t0001g0134	1	158	0.0063	577	c.11 others(598): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTC CCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCC CCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCCTCC CCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTCT GTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCCTCTCTCT CTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(570): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGG GCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGC TGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAG GGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG CAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTG GGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCA GGTGGGGTGGAGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGG TGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGG AGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCA GGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGAGGGGGCAGGTGGG GCACAGGGGAGCTGGTGGCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0186 a0001c0001t0011g0186	1	270	0.0037	577	c.178 others(594): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGC GGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGG GGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGG TGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGAGCGGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
LY75_chr2_159798355_159909756	159874366	A A	AATATATA others(570): Show AATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATA TATAAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTA AATATATATATATTTTGTAAATATATATTGTAAATATATATAAATATATA TTTTGTGAATTATATATATATTGTAAATTATATATATATTTTGTAAATAT ATATAGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATA TATATATTTTGTAAATATGTATATATATTTTGTAAATATATACATTTTGT AAATATATAAATGTATACATTTTGTAAATATATAAAAATATATACATTTT GTAAATATATAAAAATATATGTTGTAAATATATAAAAATATATATATTTT GTAAATATATAAATATATATATTTTGTAAATATATATAAATATATACATA TTTTGTAAATATATAAATATATACATATTTTGTAAATCTATATAAATATA TACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAATCTATA TAAATATATACATATTTTGTAAATCTAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03704.hp2 HG03688.hp1 HG03704.hp2	a0006 a0012 a0006 a0012	a0006c0004 a0012c0016 a0006c0004 a0012c0016	a0006c0004t0001 a0012c0016t0001 a0006c0004t0001 a0012c0016t0001	a0006c0004t0001g0163 a0012c0016t0001g0187 a0006c0004t0001g0163 a0012c0016t0001g0187	2	330	0.0061	577	c.197 others(596): Show c.1974+1077_1974+1078insATAGATTTACAAAATATGTATATATT TATATAGATTTACAAAATATGTATATATTTATATAGATTTACAAAATATG TATATATTTATATAGATTTACAAAATATGTATATATTTATATATTTACAA AATATGTATATATTTATATATATTTACAAAATATATATATTTATATATTT ACAAAATATATATATTTTTATATATTTACAACATATATTTTTATATATTT ACAAAATGTATATATTTTTATATATTTACAAAATGTATACATTTATATAT TTACAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATA TATATTTACAAAATATATATACATATTTACAAAATATATATATTTACTAT ATATATTTACAAAATATATATATAATTTACAATATATATATAATTCACAA AATATATATTTATATATATTTACAATATATATTTACAAAATATATATATA TTTACAAAACATATATATATTTATATATATTTACAAAACATATATATTTA TATATATTTACAAAACATATATATTTATATATATTTACAAAACATATATA T	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(570): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGG GCTCCTGGCGAGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	292	0.0034	577	c.218 others(592): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGG GGCACACTCGCCAGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGG AGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCC CATGTGAGGAGGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)