Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TECTA_chr11_121096243_121196490	121185620	C C	CAGATGTT others(541): Show CAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCT TAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTG AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAA TGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03834.hp1 HG04228.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0002 a0001c0006t0002 a0001c0003t0002 a0001c0006t0002	a0001c0003t0002g0318 a0001c0006t0002g0115 a0001c0006t0002g0199 a0001c0003t0002g0318 a0001c0006t0002g0115 a0001c0006t0002g0199	3	348	0.0086	548	c.600 others(567): Show c.6000-2170_6000-2169insGAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGC TTAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAA AGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATG CTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAGTA GGGAAAGCAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTT GAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTGAA TGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATG TTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGA ATGAGTAGGGAAAGCAGATGTT	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747551	G G	GCACTGGG others(541): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0107 a0001c0001t0003g0107	1	314	0.0032	548	c.189 others(563): Show c.189-774_189-773insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(541): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGT GTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACAT GTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTATAC ATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGTAT ACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGTATACGT ATACATGTGTACACATGTATGTATGTGTATATATGTATACATGTATATAT GTATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTATAT ATGTATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	388	0.0026	548	c.-23 others(565): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATACATATA TACACGCGCGTGTATGTATACATATATACATGTATACATATATACACATA CATACATGTGTACACATGTATACGTATACACATGTGTACACATGTATACG TATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTATA CGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATGTA TACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACATG TATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACACA TGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTACA CATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTA CACATGTATACGTATACACATGTGTACACATGTAGATACACGTATATATA CATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(541): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATACATAAAAATTATATATATATTATATATA CATAAAAATTATATATATATTATATATATATAAAAATTATATATATATAA TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	272	0.0037	548	c.29 others(559): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATACATAAAAATTATA TATATATTATATATACATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATAATATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(541): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATAA TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	272	0.0074	548	c.29 others(559): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATAATATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRPM7_chr15_50552158_50691797	50679475	T T	TATATATA others(541): Show TATATATATATATTATATATATGTGTATATATATAATATATATATATATT ATATATGTGTATATATATAATATATATATATTATATATATGTGTATATAT ATAATATATATATATTATATATATGTGTATATATATAATATATATATATT ATATATATGTGTATATATATAATATATATATATTATATATATGTGTATAT ATATAATATATATATATTATATATATGTGTATATATATAATATATATATA TTATATATGTGTATATATTATATATATATATATTATATATATGTGTATAT ATATAATATATATATATATTATATATATGTGTATATATATAATATATATA TATAATATATATGTGTATATATATAATATATATATATATTATATATATGT GTATATATATAATATATATATATTATATATATGTGTATATATATAATATA TATATAATATATATGTGTATATATATAATATATATATATATTATATATAT GTGTATATATATAATATATATATATATTATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0061 a0001c0001t0060 a0001c0001t0061	a0001c0001t0060g0010 a0001c0001t0061g0003 a0001c0001t0060g0010 a0001c0001t0061g0003	2	352	0.0057	548	c.3+7 others(561): Show c.3+7055_3+7056insTATATATATACACATATATATAATATATATAT ATATTATATATATACACATATATATAATATATATATATATTATATATATA CACATATATATTATATATATATTATATATATACACATATATATAATATAT ATATATTATATATATACACATATATATAATATATATATATATTATATATA TACACATATATATTATATATATATATTATATATATACACATATATATAAT ATATATATATATTATATATATACACATATATATAATATATATATATATAA TATATACACATATATAATATATATATATTATATATATACACATATATATA ATATATATATATTATATATATACACATATATATAATATATATATATTATA TATATACACATATATATAATATATATATATTATATATATACACATATATA TAATATATATATATTATATATATACACATATATATAATATATATATATTA TATATATACACATATATAATATATATATATATTATATATATACACATATA TATAATATATATATAT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	1/38			chr15	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(541): Show TATATACACACGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATGTGTGTG TATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTG TGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTG TGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATG TGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATA TGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACA TATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACA CATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACA CACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATA CACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0039 a0001c0001t0004g0039	1	320	0.0031	548	c.-38 others(559): Show c.-3848_-3847insATATACACACGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCAT ACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGC ATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTATAC GCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGTAT ACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGTGT ATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGTGT GTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGTGT GTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATATGT GTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACACATAT GTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
ULK1_chr12_131889622_131928150	131917075	G G	GTGGGGCT others(541): Show GTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGACGGGGGTTGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGAGGCT GTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGG GGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGG CTGTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGG GTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0023 a0002c0011t0004g0023	1	344	0.0029	548	c.218 others(563): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGAGGCTGT GGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGG TTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCT GTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTGGA GGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGG GATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGT TGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(541): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATTTAT TTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATAT TTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATAT TTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTAT ATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 HG03516.hp1 HG02486.hp1 HG03225.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0063 a0001c0001t0008 a0001c0002t0063	a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0002t0063g0158 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0002t0063g0158	3	250	0.0120	548	c.82+ others(563): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAATATATATTTATATATTTAGTTTATAAATATATATTTATTTATTTAGT TTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(541): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTC CTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTC CCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01928.hp2 NA18983.hp1 HG01928.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0044 a0001c0001t0001g0012 a0001c0001t0002g0044	2	64	0.0313	548	c.104 others(567): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCT CCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTC CCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTC CCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCC TGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(541): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGA AGGAGGAGAGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG03225.hp1 others(1): Show HG00735.hp1 HG01884.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 others(1): Show a0001c0001t0005g0159 a0001c0001t0005g0160 a0001c0001t0005g0161 a0001c0001t0005g0162	4	167	0.0240	548	c.53 others(559): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCTCTCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VGLL4_chr3_11551069_11648915	11605296	C C	CCCCACCC others(541): Show CCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCC CCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCT TCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGT GAATTCCATCTTCCAAAGCCCCCCACGCCCCCGCCCACCCCCAATCCTCC ACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCAC CCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACG CCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAA GCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGCTCTGTGAATTC CATCTTCCAAAGCGCCCCCACGCCCCCGCCCACCCCCAATCCTCCACAGC TCTGTGAATTCCATCTTCCAAAGCCCCCCACGCCCCCGCCCACCCCCAAT CCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCCCG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0245 a0001c0002t0017g0245	1	388	0.0026	548	c.83- others(563): Show c.83-3275_83-3274insCGGGGGCGTGGGGGCGCTTTGGAAGATGGA ATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGGGCTTT GGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGT GGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTG GGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACA GAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAG ATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGGGGCGTGGGGG GCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGGGCGGG GGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGG GGGTGGGCGGGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTG TGGAGGATTGGGGGTGGG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
WDR7_chr18_56646359_57034792	57024900	A A	ACTATGAT others(541): Show ACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGG CAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTTC ACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTT ATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGA TATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTATT CTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAG GATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTATGA TAGTTATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGAAT AGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCC CTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCCTT ATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0030 a0001c0002t0008g0030	1	144	0.0069	548	c.427 others(567): Show c.4270-2083_4270-2082insCAGGATTTCACATATCCCTATTCTCA GGCAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATT TCACATATCCCTATTCTCAGGCAGGAATAGGGATATGTGAACTATGATAG TTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATATCCCTA TTCTCAGGCAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTAC AGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGACTAT GATAGTTATGTCCCTTATAGAATTTCACAAATCCCTATTCTCAGACAGGA ATAGGGATATGTGACTATGATAGTTATGTCCCTTATAGAATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGACTATGATAGTTATGTCCC TTATAGAATTTCACAAATCCCTATTCTCAGACAGGAATAGGGATATGTGA GCTATGATAGTTATGTCCCTTA	WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZBTB34_chr9_126855639_126890878	126876180	T T	TTCCCCCC others(541): Show TTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18962.hp1 NA18998.hp2 NA18946.hp1 NA18962.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0152 a0001c0001t0002g0006 a0001c0001t0002g0152	3	246	0.0122	548	c.-10 others(565): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCTCCTTCCCCCCT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(541): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATACATATGTGTATATATGTATATGTATACATA TGTGTATATATGTATATGTATACATATGTGTATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	165	0.0061	548	c.-15 others(569): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATATGTAT ACATATGTGTATATATGTATATGTATACATATGTGTATATATGTATATGT ATACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(541): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATATATATCACATATATCAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATCATATATATCACATATATGATATATATATCATATAT ATCACATATATGATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	548	c.-36 others(559): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATATA TATCACATATATCATATATATCATATATATCACATATATGATATATATAT CATATATATCACATATATGATATATATATCATATATATCACATATATGAT ATATATATCATATATATCACATATATGATATATATATCATATATATCACA TATATGATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(541): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCCGCGCCGCACCC CTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCC ACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCC CGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCA CCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGC ACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCC CTCCACCACCCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0205	1	346	0.0029	548	c.181 others(569): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGC TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGT GCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGG GTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(541): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCCGCGCCGCACCC CTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCC ACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCC CGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCA CCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCCGC GCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCA CCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCG CACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCA CACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACC CCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0329 a0001c0001t0043g0329	1	346	0.0029	548	c.181 others(569): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGT GCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGG GTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(541): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC CGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCA CCAACCACACCCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGC GCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCA CCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCG CACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCA CACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACC CCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0177 a0001c0001t0142g0177	1	346	0.0029	548	c.181 others(569): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGT GTGGTTGGTGGAGAGATGGAGCGCGGGGGGTGTGGTTGGTGGTGGAGGGG TGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTG GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(541): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCCGCGCCGCACCTCTCCACCA CCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGC ACCCCTCCACCACCAACCACACCCCCCGCGCTCCATCTCTCCACCAACCA CACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACC CCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	346	0.0029	548	c.181 others(569): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGC TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGG TGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGG TGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTG GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(541): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCG CCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCAC CCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGC ACCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCAC ACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCC CTCCACCACCCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0285 a0001c0001t0017g0285	1	346	0.0029	548	c.181 others(569): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCG GGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGC TGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGG TGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGG TGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTG GGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
AGAP1_chr2_235489043_236136793	235802961	T T	TGTGATGA others(542): Show TGTGATGATGGTTGTGATGATGGTTGTGATGGTGGTGATGGTTGTGGTTG TGATGGTGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGGTGGTG GTGATGGCTGTGGTGATGATGGTTGTGATGGTGGTGATGATGGTCGTGGT GATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATGGTGATGATGGTTG TGGTTGTGATGATTGTGATGGTGATGATGCTGGTTGTGGTTGTGATGGTG ATGGTTGTGATGGTGGTGATGATGGTTGTGATGATGGTTGTGGTGATGGT TGTGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTG TGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATG ATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGT TGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGA TGGTTGTGGTTGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA20129.hp2 HG01496.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0013 a0001c0002t0001 a0001c0005t0013	a0001c0002t0001g0013 a0001c0005t0013g0050 a0001c0002t0001g0013 a0001c0005t0013g0050	2	98	0.0204	549	c.957 others(566): Show c.957+3454_957+3455insATGATGGTTGTGATGGTGGTGATGGTTG TGGTTGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATG GTGGTGGTGATGGCTGTGGTGATGATGGTTGTGATGGTGGTGATGATGGT CGTGGTGATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATGGTGATGA TGGTTGTGGTTGTGATGATTGTGATGGTGATGATGCTGGTTGTGGTTGTG ATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTGATGATGGTTGTGGT GATGGTTGTGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGA TGGTTGTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTT GTGATGATGGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGAT GATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGG TGGTGATGGTTGTGGTTGTGATGGTGATGGTTGTGATGGTGATGATGGTT GTGATGGTGATGATGGTTGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGAP1_chr2_235489043_236136793	235802998	G G	GTGATGGT others(542): Show GTGATGGTTGTGGTTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGT TGTGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGA TTGTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTG ATGGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGT GGTGATGGTTGTGGTGATGATGGTTGTGATGATGGTTGTGGTGATGGTTG TGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTG GTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGAT GGTTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTG TGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATG GTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGAT GATGGTTGTGATGGTGATGGTTGTGATGGTGGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00642.hp2 others(37): Show HG00438.hp1 HG00438.hp2 HG00642.hp2 HG01106.hp2 HG01123.hp1 HG01358.hp1 HG01928.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19011.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0012 a0001c0016 a0001c0017 a0001c0021 a0002c0004 a0002c0007 a0003c0015	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(29): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0026 a0001c0001t0044 a0001c0001t0048 a0001c0002t0001 a0001c0002t0006 a0001c0002t0014 a0001c0002t0032 a0001c0002t0034 a0001c0002t0042 a0001c0003t0020 a0001c0005t0004 a0001c0005t0040 a0001c0009t0017 a0001c0012t0009 a0001c0016t0007 a0001c0017t0008 a0001c0021t0002 a0002c0004t0001 a0002c0004t0030 a0002c0004t0045 a0002c0007t0005 a0002c0007t0008 a0002c0007t0023 a0003c0015t0002	a0001c0001t0002g0047 a0001c0001t0002g0060 a0001c0001t0002g0070 others(37): Show a0001c0001t0002g0047 a0001c0001t0002g0060 a0001c0001t0002g0070 a0001c0001t0005g0012 a0001c0001t0007g0008 a0001c0001t0008g0069 a0001c0001t0010g0003 a0001c0001t0010g0014 a0001c0001t0011g0020 a0001c0001t0012g0071 a0001c0001t0019g0065 a0001c0001t0026g0095 a0001c0001t0044g0041 a0001c0001t0048g0054 a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0030 a0001c0002t0001g0068 a0001c0002t0001g0073 a0001c0002t0006g0093 a0001c0002t0014g0052 a0001c0002t0032g0051 a0001c0002t0034g0084 a0001c0002t0042g0067 a0001c0003t0020g0053 a0001c0005t0004g0088 a0001c0005t0004g0097 a0001c0005t0040g0006 a0001c0009t0017g0037 a0001c0012t0009g0078 a0001c0016t0007g0089 a0001c0017t0008g0092 a0001c0021t0002g0091 a0002c0004t0001g0017 a0002c0004t0030g0045 a0002c0004t0045g0039 a0002c0007t0005g0026 a0002c0007t0008g0011 a0002c0007t0023g0085 a0003c0015t0002g0075	40	98	0.4082	549	c.957 others(566): Show c.957+3499_957+3500insATGGTGATGGCTGTGGTGATGATGGTTG TGATGGTGGTGATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATT GTGGTTGTGATGGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGAT GGTGATGATGCTGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGATGATGGTTGTGGTGATGGTTGTG ATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGT TGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGATGG TTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTG ATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGT TGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGA TGGTTGTGATGGTGATGGTTGTGATGGTGGTGATGGTTGTGATGGTGATG ATGGTTGTGGTTGTGATGGTG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(542): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGGAGGGGGAGGAGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGA GGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGAGGAGGGGGGGAG GAGGAGGGGGGAGGAGGGGGGGAGGAGGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAG GAGGGGGGGAGGAGGAGGGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGG AGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAG GAGGAGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGG AGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	301	0.0033	549	c.125 others(570): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCCCCTCCTCC TCCTCCCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCT CCTCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT CCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCC CTCCTCCTCCCCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCTCCC CCTCCCCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCTCC CCTTCTCCTCCTCCTCCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCCCT TCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCTCCCCCTTCTCCTCCTCC TCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCTCCTTCCCCTCTTCACCT TCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANXA2_chr15_60342151_60402986	60349976	A A	AGGGGAAG others(542): Show AGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGG AGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGC AGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGA AGGCAGGGAGGGGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGACGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAGGCAGGG AGGCAGGGAGGCAGGGAGGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGAGAGGCGGGGAAGGCAGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGCAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	334	0.0030	549	c.838 others(564): Show c.838-780_838-779insGGCCTCCCTGCCTTCCCCTGCCTCCCTGCC TTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTGCCCCTGCCTCCC TGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCTGCCTTCCCCGCCTC TCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTC CCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCC CCCTCCCTGCCTCCCTGCCTCCCTGCCTCCCCTGCCTCCCTGCCTTCCCC TCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTT CCCCTGCCTCCCTGCCGTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTG CCTTCCCCCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(542): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC CACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCAC ACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCA TCACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCAC CCGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCAC ACTACCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCG CCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCA CCCCCATCACCCCCACGCCGCCCACCCCCCATCACCCCCACGCCGCCCAC CCCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0080 a0003c0004t0002g0080	1	334	0.0030	549	c.147 others(566): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACA CTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCACACTA CCCACCCCATCACCCCCACACTACCCACCCCCATCACCCTCACTACCCAT CACCCGCACACTACCCACCCCATCACCCGCACACTACCCACCCCATCACC CGCACACTACCCAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACA CTACCCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCGC CCACCCCATCACCCCCACGCCACCCACCCCATCACCCCCACGCCGCCCAC CCCCATCACCCCCACGCCGCCCACCCCCCATCACCCCCACGCCGCCCACC CCATCACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCAT CACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TCCCCTCC others(542): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCCTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCC TCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTC CCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCT CCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0192 a0001c0004t0005g0192	1	210	0.0048	549	c.273 others(566): Show c.2734+177_2734+178insCCCCTCCTGCCCCCTTCCCCTCCTGCCC TCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCT GCCCTCCTGCCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCT CCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCC TCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCC CTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTC CCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCC CCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCT CCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCC CCTCCTCCCCTCCTGCCCCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27			chr2	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(542): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA ATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGAC TGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTCT CAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCCA TGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0108 a0001c0003t0050g0108	1	312	0.0032	549	c.69- others(566): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTGAGATGGAGTCTCAC TCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAAC CTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGT TTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCTGACCT CAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(542): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAC TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA ATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGAC TGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTCT CAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCCA TGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0045 a0001c0001t0024g0045	1	312	0.0032	549	c.69- others(566): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTGAGATGGAGTCTCAC TCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAAC CTCTGTCTCCTGGGTTCAAGCAGTTCTCCTGCCTCAGCCTTCCAAGTAGT TTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACCT CAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(542): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA ATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGAC TGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTCT CAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCCA TGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(218): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0017 a0001c0019 a0001c0020 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(84): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0020 a0001c0002t0021 a0001c0002t0027 a0001c0002t0028 a0001c0002t0056 a0001c0002t0068 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0028 a0001c0003t0031 a0001c0003t0032 a0001c0003t0079 a0001c0004t0004 a0001c0004t0067 a0001c0005t0008 a0001c0005t0009 a0001c0005t0043 a0001c0005t0046 a0001c0006t0003 a0001c0007t0001 a0001c0008t0004 a0001c0009t0003 a0001c0009t0007 a0001c0010t0003 a0001c0011t0048 a0001c0013t0002 a0001c0014t0025 a0001c0017t0001 a0001c0019t0010 a0001c0020t0009 a0002c0012t0002	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 others(218): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0147 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0191 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0261 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0284 a0001c0001t0002g0296 a0001c0001t0002g0305 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0057 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0205 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0263 a0001c0001t0003g0266 a0001c0001t0003g0302 a0001c0001t0004g0106 a0001c0001t0006g0011 a0001c0001t0006g0022 a0001c0001t0006g0059 a0001c0001t0006g0062 a0001c0001t0006g0098 a0001c0001t0006g0104 a0001c0001t0006g0229 a0001c0001t0006g0258 a0001c0001t0006g0262 a0001c0001t0006g0276 a0001c0001t0006g0299 a0001c0001t0007g0071 a0001c0001t0008g0072 a0001c0001t0008g0082 a0001c0001t0009g0020 a0001c0001t0009g0078 a0001c0001t0010g0034 a0001c0001t0010g0192 a0001c0001t0010g0272 a0001c0001t0011g0021 a0001c0001t0011g0099 a0001c0001t0011g0101 a0001c0001t0011g0245 a0001c0001t0012g0080 a0001c0001t0012g0132 a0001c0001t0012g0206 a0001c0001t0013g0001 a0001c0001t0013g0051 a0001c0001t0013g0134 a0001c0001t0013g0136 a0001c0001t0017g0041 a0001c0001t0018g0239 a0001c0001t0018g0254 a0001c0001t0019g0248 a0001c0001t0019g0294 a0001c0001t0019g0308 a0001c0001t0022g0028 a0001c0001t0022g0103 a0001c0001t0023g0036 a0001c0001t0023g0042 a0001c0001t0023g0100 a0001c0001t0024g0018 a0001c0001t0025g0019 a0001c0001t0026g0043 a0001c0001t0026g0285 a0001c0001t0030g0214 a0001c0001t0030g0257 a0001c0001t0034g0159 a0001c0001t0035g0194 a0001c0001t0038g0025 a0001c0001t0039g0122 a0001c0001t0040g0024 a0001c0001t0042g0148 a0001c0001t0044g0251 a0001c0001t0045g0249 a0001c0001t0058g0076 a0001c0001t0059g0256 a0001c0001t0061g0014 a0001c0001t0062g0292 a0001c0001t0063g0115 a0001c0001t0064g0050 a0001c0001t0065g0123 a0001c0001t0066g0117 a0001c0001t0069g0265 a0001c0001t0072g0217 a0001c0001t0073g0219 a0001c0001t0074g0141 a0001c0001t0076g0213 a0001c0001t0078g0038 a0001c0001t0080g0010 a0001c0001t0081g0058 a0001c0002t0002g0005 a0001c0002t0002g0161 a0001c0002t0003g0066 a0001c0002t0005g0048 a0001c0002t0005g0054 a0001c0002t0005g0065 a0001c0002t0005g0067 a0001c0002t0005g0083 a0001c0002t0005g0142 a0001c0002t0005g0144 a0001c0002t0005g0145 a0001c0002t0005g0189 a0001c0002t0005g0196 a0001c0002t0005g0198 a0001c0002t0005g0225 a0001c0002t0005g0286 a0001c0002t0007g0006 a0001c0002t0007g0016 a0001c0002t0007g0207 a0001c0002t0011g0052 a0001c0002t0011g0133 a0001c0002t0013g0055 a0001c0002t0015g0047 a0001c0002t0016g0049 a0001c0002t0016g0053 a0001c0002t0016g0056 a0001c0002t0020g0102 a0001c0002t0020g0140 a0001c0002t0020g0143 a0001c0002t0021g0226 a0001c0002t0027g0197 a0001c0002t0028g0073 a0001c0002t0056g0092 a0001c0002t0068g0293 a0001c0003t0007g0040 a0001c0003t0007g0221 a0001c0003t0007g0224 a0001c0003t0007g0307 a0001c0003t0008g0236 a0001c0003t0008g0269 a0001c0003t0010g0112 a0001c0003t0014g0081 a0001c0003t0014g0126 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0028g0095 a0001c0003t0031g0120 a0001c0003t0032g0107 a0001c0003t0079g0312 a0001c0004t0004g0288 a0001c0004t0067g0212 a0001c0005t0008g0003 a0001c0005t0008g0046 a0001c0005t0008g0111 a0001c0005t0008g0113 a0001c0005t0008g0114 a0001c0005t0009g0309 a0001c0005t0043g0002 a0001c0005t0046g0116 a0001c0006t0003g0231 a0001c0006t0003g0232 a0001c0007t0001g0023 a0001c0007t0001g0295 a0001c0008t0004g0137 a0001c0008t0004g0306 a0001c0009t0003g0283 a0001c0009t0007g0233 a0001c0010t0003g0075 a0001c0011t0048g0209 a0001c0013t0002g0105 a0001c0014t0025g0160 a0001c0017t0001g0304 a0001c0019t0010g0129 a0001c0020t0009g0127 a0002c0012t0002g0240	221	312	0.7083	549	c.69- others(566): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTGAGATGGAGTCTCAC TCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAAC CTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGT TTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACCT CAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(542): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA ATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGAC TGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTCT CAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACATGGCTGGGCCA TGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0260 a0001c0001t0055g0260	1	312	0.0032	549	c.69- others(566): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCATGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTGAGATGGAGTCTCAC TCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAAC CTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGT TTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACCT CAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(542): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA ATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCCAGCTACCCTGGAGAC TGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTCT CAAAAAAATTAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGTCCA TGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(49): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00741.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01361.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp2 HG02451.hp2 HG02622.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 NA18944.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18968.hp1 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA19004.hp2 NA19009.hp1 NA19057.hp2 NA19060.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0021	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0052 a0001c0002t0053 a0001c0002t0057 a0001c0003t0003 a0001c0003t0012 a0001c0003t0018 a0001c0003t0027 a0001c0003t0051 a0001c0003t0054 a0001c0003t0060 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0008 a0001c0004t0009 a0001c0004t0017 a0001c0004t0025 a0001c0004t0029 a0001c0004t0033 a0001c0004t0037 a0001c0004t0041 a0001c0004t0047 a0001c0004t0070 a0001c0004t0071 a0003c0021t0009	a0001c0001t0001g0287 a0001c0001t0003g0166 a0001c0001t0004g0297 others(49): Show a0001c0001t0001g0287 a0001c0001t0003g0166 a0001c0001t0004g0297 a0001c0001t0011g0139 a0001c0001t0011g0163 a0001c0001t0036g0096 a0001c0002t0001g0200 a0001c0002t0003g0039 a0001c0002t0021g0201 a0001c0002t0052g0091 a0001c0002t0053g0090 a0001c0002t0057g0110 a0001c0003t0003g0176 a0001c0003t0012g0085 a0001c0003t0012g0086 a0001c0003t0012g0087 a0001c0003t0018g0188 a0001c0003t0027g0135 a0001c0003t0051g0118 a0001c0003t0054g0119 a0001c0003t0060g0088 a0001c0004t0001g0177 a0001c0004t0001g0178 a0001c0004t0002g0203 a0001c0004t0004g0089 a0001c0004t0004g0109 a0001c0004t0004g0149 a0001c0004t0004g0162 a0001c0004t0004g0167 a0001c0004t0004g0171 a0001c0004t0004g0174 a0001c0004t0004g0183 a0001c0004t0004g0184 a0001c0004t0004g0185 a0001c0004t0004g0187 a0001c0004t0004g0202 a0001c0004t0004g0230 a0001c0004t0004g0311 a0001c0004t0008g0227 a0001c0004t0008g0289 a0001c0004t0009g0180 a0001c0004t0017g0169 a0001c0004t0017g0170 a0001c0004t0025g0175 a0001c0004t0029g0146 a0001c0004t0033g0301 a0001c0004t0037g0064 a0001c0004t0041g0182 a0001c0004t0047g0181 a0001c0004t0070g0165 a0001c0004t0071g0097 a0003c0021t0009g0195	52	312	0.1667	549	c.69- others(566): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGACCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTAATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTGGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTGAGATGGAGTCTCAC TCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAAC CTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGT TTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACCT CAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51740560	A A	AATTAGGC others(542): Show AATTAGGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAG GCCAAGGCAGGTGGATCACCTGAGGTCGGGAGTTCAAGACCAGCCTAACC AACATGAGGAAACCCCGTCTCTACTAAAAATACAAAATTAGATGGGCGTG GTGGCGCATGCCTGTAATTCAAACTACTTGGAAGGCTGAGGCAGGAGAAT TGCTTGAACCCAGGAGACAGAGGTTGTGGTAAGCCAAGATCATGCCATTG TACTCCAGCATGGGCAACAAGAGTGAGACTCCATCTCAAAAAAAAAAAAA ATTAGCCAGGCGTGGTGGTGGGCACCTGTAATCCTAGCTACCCTGGAGAC TGAGGCAGAAGAATCGCTTGAACCCAGGAGGCGGAGATTGCAGTGAGCCA AGATTACGCCACTGCACTCCAGCCTGGGCACCAAGAGCAAAACCCTGTCT CAAAAAAATAAACAAATAAAAAGATTTCTGTCTGCCACACGGCTGGGCCA TGTGTAAAGACACATTCCTGTTGGTTTTATGTGTCTTGAATTCTAATGGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0128 a0001c0001t0013g0128	1	312	0.0032	549	c.69- others(566): Show c.69-10583_69-10582insCCCATTAGAATTCAAGACACATAAAACC AACAGGAATGTGTCTTTACACATGGCCCAGCCGTGTGGCAGACAGAAATC TTTTTATTTGTTTATTTTTTTGAGACAGGGTTTTGCTCTTGGTGCCCAGG CTGGAGTGCAGTGGCGTAATCTTGGCTCACTGCAATCTCCGCCTCCTGGG TTCAAGCGATTCTTCTGCCTCAGTCTCCAGGGTAGCTAGGATTACAGGTG CCCACCACCACGCCTGGCTAATTTTTTTTTTTTTTGAGATGGAGTCTCAC TCTTGTTGCCCATGCTGGAGTACAATGGCATGATCTTGGCTTACCACAAC CTCTGTCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCAAGTAGT TTGAATTACAGGCATGCGCCACCACGCCCATCTAATTTTGTATTTTTAGT AGAGACGGGGTTTCCTCATGTTGGTTAGGCTGGTCTTGAACTCCCGACCT CAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACTGTGCCCAGCCTAAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
C22orf42_chr22_32144006_32164303	32145624	T T	TATATAAT others(542): Show TATATAATATAATTTATTATATTATATAATGATATATAATATAATTTATT ATATTATATAATGATATATAATATAATTTATTATATTATATAATGATATA TAATATAATTTATTATATTATATAATGATATATAATATAATTTATTATAT TATATAATGATATATAATATAATTTATTATATTATATAATGATATATAAT ATAATTTATTATATTATATAATGATATATAATATAATTTATTATATTATA TAATGATATATAATATAATTTATTATATTATATAATGATATATAATATAA TTTATTATATTATATAATGATATATAATATAATTTATTATATTATATAAT GATATATAATATAATTTATTATATTATATAATGATATATAATATAATTTA TTATATTATATAATGATATATAATATAATTTATTATATTATATAATGATA TATAATATAATTTATTATATTATATAATGATATATAATATAATTTATTAT ATTATATAATGATATATAATATAATTTATTATATTATATAATGATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0012 a0002c0007t0002g0012	1	398	0.0025	549	c.39 others(560): Show c.3915_*3916insTATATATCATTATATAATATAATAAATTATATTA TATATCATTATATAATATAATAAATTATATTATATATCATTATATAATAT AATAAATTATATTATATATCATTATATAATATAATAAATTATATTATATA TCATTATATAATATAATAAATTATATTATATATCATTATATAATATAATA AATTATATTATATATCATTATATAATATAATAAATTATATTATATATCAT TATATAATATAATAAATTATATTATATATCATTATATAATATAATAAATT ATATTATATATCATTATATAATATAATAAATTATATTATATATCATTATA TAATATAATAAATTATATTATATATCATTATATAATATAATAAATTATAT TATATATCATTATATAATATAATAAATTATATTATATATCATTATATAAT ATAATAAATTATATTATATATCATTATATAATATAATAAATTATATTATA TATCATTATATAATATAATAAATTATATTATATATCATTATATAATATAA TAAATTATATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3381		chr22	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGAT others(542): Show GTGATGATGGTGATGATGTGATGGTGATGATGTTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTTGATGATGGT GATGATGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGCGTGGTGATGTATGATGG TGATGTGATGGTAATGGTGATGATGGTGATGGTGATGATGATGTGGTGGT GATGGTGATGCTGATGATGGTGATGATGGTGATGGTGATGATAGTGATGA TGGTGCATGATGGTGATGGTGATGATGGTGATGGTGATGATATTGATGGT GATGATATTGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGAT GGTGATGATGGTGATAGTTATGATGGTGATGGTGATGATGTTGATGATGG TGATGATGGTGATGATGGTGATGGTGATGATGTGATGGTGATGATAGTGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0196 a0002c0002t0000g0196	1	346	0.0029	549	c.963 others(566): Show c.963+3549_963+3550insTCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCATCA TCACCATCACCATCATGCACCATCATCACTATCATCACCATCACCATCAT CACCATCATCAGCATCACCATCACCACCACATCATCATCACCATCACCAT CATCACCATTACCATCACATCACCATCATACATCACCACGCATCACCATC ATCACCATCACCATCATCACCATCACCATCATCATCACCATCACATCATC ACCATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCAC CATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCATCA CCATCACCATCATCACCATCACCATCATCACCATCATCAACATCATCACC ATCACATCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(542): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGCT GGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGGTGG GGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGGGTGGGGTGGGG TGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGAGGAGGGGTGG AGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGG GAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCC TGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGG GGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGTGGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	284	0.0035	549	c.712 others(566): Show c.712-2416_712-2415insCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCCCCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACACCC TTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCC ACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCAGCCCCACACACCC TTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(542): Show CCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCCCCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0118 a0001c0001t0005g0118	1	256	0.0039	549	c.-45 others(570): Show c.-455+14589_-455+14590insCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTC CTCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDCP1_chr3_45077277_45151378	45133739	A A	AAAATATA others(542): Show AAAATATATATACTTTTTTAAAGAAGAAAACCAATACAGAACTCTTAACT AGATGGGGTACCAGGCAGGGAAAGATGGGGTGGTTTTTGTAGGACCTGCC GAGCTGCTCAAGGAAAGAAGTTTGGACAAATACAAAGTATTGTTTGGGAT GCTGAGCCTCCCCTTCTGAGCTGAATTACCAGATGGAAGGTGTTATATAG ATAAGCCAGCCTTTATGAAAATATTATATCAACAAGGATTTCTAAAACAT TGGATTTACTGTAAAACTTTAATGTCCAGGTACTGGAAGGTGACAGGAGG GAGGCAAATAAGTGGGTCAGAGAGAAGGTGATGATATGGCCAAGAGAGTT TGGCTGGGACCAAGTGTTTGCCCTGAAGCCCAGCTAGAGAAGAGCAGTGG TAAGAGACGCGTTTCAGCTTGTACCATTCAACACCAGCAGCAGAGAGGAG TGCTGGAGTTTTTTGTCCTAAACACCACTCTGACTGTCCACCTTTCCCTT TACACTAGTGAGGGGGCTGCAGTGGCTCCAGAAAATGTTCTGTCGGTAGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0042 a0002c0002t0012g0043 a0002c0002t0012g0042 a0002c0002t0012g0043	2	384	0.0052	549	c.82+ others(566): Show c.82+12466_82+12467insCCTACCGACAGAACATTTTCTGGAGCCA CTGCAGCCCCCTCACTAGTGTAAAGGGAAAGGTGGACAGTCAGAGTGGTG TTTAGGACAAAAAACTCCAGCACTCCTCTCTGCTGCTGGTGTTGAATGGT ACAAGCTGAAACGCGTCTCTTACCACTGCTCTTCTCTAGCTGGGCTTCAG GGCAAACACTTGGTCCCAGCCAAACTCTCTTGGCCATATCATCACCTTCT CTCTGACCCACTTATTTGCCTCCCTCCTGTCACCTTCCAGTACCTGGACA TTAAAGTTTTACAGTAAATCCAATGTTTTAGAAATCCTTGTTGATATAAT ATTTTCATAAAGGCTGGCTTATCTATATAACACCTTCCATCTGGTAATTC AGCTCAGAAGGGGAGGCTCAGCATCCCAAACAATACTTTGTATTTGTCCA AACTTCTTTCCTTGAGCAGCTCGGCAGGTCCTACAAAAACCACCCCATCT TTCCCTGCCTGGTACCCCATCTAGTTAAGAGTTCTGTATTGGTTTTCTTC TTTAAAAAAGTATATATATTT	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	1/8			chr3	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(542): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCCCCTCCTCTTCC TCCCCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTC CACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCT CTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	270	0.0037	549	c.162 others(570): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTC CTCCCCCTCCCCCTCCTCTTCCTCCCCCTCCTCCTCCTCTTCCTCCTCCT CTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCT TCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTC CTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(542): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTATGGGAGTGTATGGGTGTGTGTG TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAATGTGTATGGGAGT GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02083.hp2 HG03491.hp2 others(6): Show HG00738.hp1 HG02083.hp2 HG03491.hp2 HG04228.hp2 NA18939.hp2 NA18967.hp2 NA18991.hp1 NA19004.hp2 NA19091.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0017	a0001c0006 a0004c0004 a0005c0015 others(1): Show a0001c0006 a0004c0004 a0005c0015 a0017c0046	a0001c0006t0003 a0004c0004t0002 a0004c0004t0003 others(2): Show a0001c0006t0003 a0004c0004t0002 a0004c0004t0003 a0005c0015t0003 a0017c0046t0003	a0001c0006t0003g0041 a0004c0004t0002g0241 a0004c0004t0003g0215 others(6): Show a0001c0006t0003g0041 a0004c0004t0002g0241 a0004c0004t0003g0215 a0004c0004t0003g0238 a0004c0004t0003g0239 a0005c0015t0003g0196 a0005c0015t0003g0197 a0005c0015t0003g0198 a0017c0046t0003g0116	9	336	0.0268	549	c.341 others(566): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACATTCCCATACACAACC CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACT CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA CTCCCATACACACACACCCATACTCACACTCATACACACACATACCCATA CACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCCCA TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA CTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(542): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18747.hp2 NA19056.hp2 HG02622.hp2 NA18747.hp2 NA19056.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0005 a0002c0002t0004 a0002c0002t0005	a0002c0002t0004g0261 a0002c0002t0005g0275 a0002c0002t0005g0277 a0002c0002t0004g0261 a0002c0002t0005g0275 a0002c0002t0005g0277	3	336	0.0089	549	c.341 others(566): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC CATACACTCACTCCCATACACACACACCCATACACTCCCATACACACACT CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA CTCCCATACACACACACCCATACTCACACTCATACACACACATACCCATA CACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCCCA TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA CTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(542): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGAGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0278 a0002c0002t0005g0278	1	336	0.0030	549	c.341 others(566): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC CATACTCACACTCCCATACACACACACCCATACACTCCCATACACACACT CACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACACA CTCCCATACACACACACCCATACTCACACTCATACACACACATACCCATA CACTCCCATACACACACACTCTCCCATACACACCCATACTCACACTCCCA TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA CTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(542): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAGTATG GGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTG TATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTG TATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGT GTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGT GAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19000.hp1 NA18949.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0002 a0002c0002t0002 a0001c0006t0002 a0002c0002t0002	a0001c0006t0002g0208 a0002c0002t0002g0174 a0001c0006t0002g0208 a0002c0002t0002g0174	2	336	0.0060	549	c.341 others(566): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACAC TCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAACC CATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACA CACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACA CACACTCCCATACACACACACCCATACTCACACTCATACACACACATACC CATACACTCCCATACACACACTCCCATACACACCCATACTCACACTCCCA TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA CTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(542): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGG AGTGTGTGTGTATGGGAGTGTATGGGTATGTGTGTGTATGAGTGTGAGTA TGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTG TGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTG TGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGA GTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGA GTGAGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGT GTGTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT GTATGGGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0224 a0004c0004t0003g0224	1	336	0.0030	549	c.341 others(566): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCC ATACTCACACTCCCATACTCACTCCCATACACACACCCATACTCACACTC CCATACACACACACCCATACACTCCCATACACACTCCCATACACAACCCA TACTCACACTCACTCCCATACACACACACCCATACACTCCCATACACACA CTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATACACA CACTCCCATACACACACACCCATACTCACACTCATACACACACATACCCA TACACTCCCATACACACACACTCCCATACACACCCATACTCACACTCCCA TACTCACACACACCCATACGCACACTCCCACTCACACTCACTCCCATACA CTCCCATAGACACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
CPNE7_chr16_89570758_89602246	89597936	T T	TCTGTCCA others(542): Show TCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCG CCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATC CGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATCCATCCC CCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACC CATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCA TCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0123 a0001c0002t0004g0123	1	348	0.0029	549	c.13 others(560): Show c.1315_*1316insCTGTCCACCCGTCCGTCCATCCATCCCCCCGCCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGT CCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCC ATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCAC CCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCC ACCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCAC CCATCCGTCCACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCT GTCCACCCATTCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		691		chr16	TogoVar
DIP2C_chr10_269201_694668	322126	C C	CCGGCGAG others(542): Show CCGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG CGGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCC AGCGAGAGACTGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCG GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCCA GCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAG CGAGAGACTGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCGGC GAGAGACCGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGCTCCAGC GAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCTCCAGCG AGAGACTGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTGCGGGGC TCCAGCGAGAGACCGGCGCTGTTAGAACAGTCAGTCGGGGGTGCGGGGCT CCAGCGAGAGACTGGCGTTGTTAGAACAGTCAGTCGGGGGTGCGGGGGTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0057 a0001c0002t0001g0057	1	88	0.0114	549	c.392 others(568): Show c.3924+4879_3924+4880insCACCCCCGCACCCCCGACTGACTGTT CTAACAACGCCAGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGTTC TAACAGCGCCGGTCTCTCGCTGGAGCCCCGCACCCCCGCACCCCCGACTG ACTGTTCTAACAACGCCAGTCTCTCGCTGGAGCCCCGCACCCCCGACTGA CTGTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGA CTGTTCTAACAACGCCGGTCTCTCGCCGGAGCCCCGCACCCCCGACTGAC TGTTCTAACAACGCCAGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGTCTCTCGCTGGAGCCCCCGCACCCCCGACTGACT GTTCTAACAGCGCCGGTCTCTCGCCGCACCCCCGCACCCCCGACTGACTG TTCTAACAACGCCAGTCTCTCGCTGGAGCCCCGCACCCCCGACTGACTGT TCTAACAGCGCCGGTCTCTCGCCGCACCCCCGCACCCCCGACTGACTGTT CTAACAGCGCCGGTCTCTCGCCG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	31/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522759	G G	GAGCCCAG others(542): Show GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGG CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0010 a0011c0022t0010	a0011c0022t0010g0024 a0011c0022t0010g0024	1	358	0.0028	549	c.236 others(568): Show c.2363-1183_2363-1182insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA AGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGC CAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGC CCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGGCCCAGCGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DOCK8_chr9_209865_470255	400719	C C	CCACCACC others(542): Show CCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAC CACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCA CCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACCAC CAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACC TCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAC CACCACCTCCACCACCACCAGCACCTCCACCATCACCATCACCACCACCT CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGC ATCTTCACCATCACCACCACCTCCACCACCACCACCACCACCTCCACCAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0147 a0003c0001t0001g0147	1	256	0.0039	549	c.323 others(568): Show c.3234+1480_3234+1481insTCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCA CCACCACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACC ACCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCAC CACCAGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCTCCA CCATCACCACCACCACCTCCACCATCACCACCACCTCCACCATCACCACC ACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCAGCACCTCCACCATCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC AGCATCTTCACCATCACCACCACCTCCACCACCACCACCACCACCTCCAC CATCACCACCACCTCCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(542): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCATCACCACCTCCTTCACC ATCACCACCACCACCTCCTCCACCACCACCACCACCTCCACCACCACCTC CTCCACTACCACCACCATCTTCACCATCACCACCACCACCTCCATCACCA CCACCTCCACCACCACCACCACCTCCACCACCACCACCACTTCCACCATC ACCACCTCCTTCACCATCACCACCACCACCACCACCACCACCACCTCCAC CACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCA TCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0002 a0002	a0002c0112 a0002c0112	a0002c0112t0001 a0002c0112t0001	a0002c0112t0001g0224 a0002c0112t0001g0224	1	256	0.0039	549	c.323 others(568): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCATCACCACCTCCTTCACCATCACCACCACCACCTCCTCCACCACCA CCACCACCTCCACCACCACCTCCTCCACTACCACCACCATCTTCACCATC ACCACCACCACCTCCATCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCACCACCA CCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACC ACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTAT CACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DYNC2I1_chr7_158851558_158951189	158950629	C C	CCGGGACC others(542): Show CCGGGACCAGCCTCTGTATGATTCCAGGTGTTCTATATGATTCCAGGTGT GATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATG ATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATGATTCCAGG TGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTAT ACGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGA CCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATA CTGCACCGGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCA GGTGTGATATACTGCACGGGGACCAGCCTCTATACGATTCCAGGTGTTCT ATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATATGATT CCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCC TCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02055.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0223 a0001c0001t0012g0224 a0001c0001t0012g0223 a0001c0001t0012g0224	2	274	0.0073	549	c.48 others(560): Show c.4850_*4851insCGGGACCAGCCTCTGTATGATTCCAGGTGTTCTA TATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTC CAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACCAGCCT CTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACC GGGACCAGCCTCTATACGATTCCAGGTGTTCTATATGATTCCAGGTGTGA TATACTGCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGAT TCCAGGTGTGATATACTGCACCGGGACCAGCCTCTATACGATTCCAGGTG TTCTATATGATTCCAGGTGTGATATACTGCACGGGGACCAGCCTCTATAC GATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACTGCACCGGGACC AGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGGTGTGATATACT GCACCGGGACCAGCCTCTATATGATTCCAGGTGTTCTATATGATTCCAGG TGTGATATACTGCAT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding		4441		chr7	TogoVar

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Search Results (Total: 10000 hits)