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
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(603): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	188	0.0053	610	c.109 others(629): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(603): Show AACACCACCCCCACCACCCCCACACCACCCCCAACACCACCCCCACCACC ACCCCCACCACCCACCACCACCCACCACCACCACCCCCACCACCACCCCC ACCACCCCCACACCACCCCCACACCAGCCCCAACACCACCCCCACCACCA CCCCCACCACCCACCACCACCCACCACCACCACCCCCACCACCACCCCCA CCACCCCCCACACCGCCCACACACCAGCCCCAACACCACCCCCAACACCA GCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCACACCACCCCC ACACCACCCCCAACACCATCCCCAACACCACCCCCACCACCCCCACACCA CCCCCACACCACCCCCACCACCACCCCCACCACCCCCACACCACCCCCAC CACCACCCCCACCACCACCCCCACCACCCCCACACCACCCCCACACCACC CCCACCACCACCCCCACCACCCCCACACCACCCCCACACCACCCCCAACA CCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAG CCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAA CACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0002	1	106	0.0094	610	c.27 others(621): Show c.2795_*2796insACACCACCCCCACCACCCCCACACCACCCCCAAC ACCACCCCCACCACCACCCCCACCACCCACCACCACCCACCACCACCACC CCCACCACCACCCCCACCACCCCCACACCACCCCCACACCAGCCCCAACA CCACCCCCACCACCACCCCCACCACCCACCACCACCCACCACCACCACCC CCACCACCACCCCCACCACCCCCCACACCGCCCACACACCAGCCCCAACA CCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCAC CCCCACACCACCCCCACACCACCCCCAACACCATCCCCAACACCACCCCC ACCACCCCCACACCACCCCCACACCACCCCCACCACCACCCCCACCACCC CCACACCACCCCCACCACCACCCCCACCACCACCCCCACCACCCCCACAC CACCCCCACACCACCCCCACCACCACCCCCACCACCCCCACACCACCCCC ACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACAC CACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACC CCCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(603): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATATAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTATTCA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0121 a0001c0012t0001g0121	1	208	0.0048	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATG TATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATA TGTAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074114	T T	TTATATAT others(603): Show TTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAAT ATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATAT ACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATTT ATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATAA ATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAAAT ATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTATAT TTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATAT AAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTAA ATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTAT ATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATAT ATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGT AAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGT ATATTTATTCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	208	0.0048	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATATA TAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATGTA AATATACATGTATATTTATTCATATATAAATATATGTAAATATACATGTA TATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCATA TATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATATG TAAATATACATGTATATTTATTCATATATAAATATATGTAAATATACATG TATATTTATTCATATATAAATATATGTAAATATACATGTATATTTATTCA TATATAAATATATGTAAATATACATGTATATTTATTCATATATAAATATA TGTAAATATACATGTATATTTATTCATATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(603): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCACATATAAATATATATAAATATACATGTA TATTTATTCAC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0016 a0001c0003t0002g0016	1	208	0.0048	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATAAATATA TATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(603): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCACATATAAATATATATAAATATACATGTA TATTTATTCAC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18990.hp1 NA19085.hp1 NA18981.hp1 NA18990.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0023 a0001c0003t0002g0037 a0001c0003t0002g0017 a0001c0003t0002g0023 a0001c0003t0002g0037	3	208	0.0144	610	c.-97 others(627): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATAAATATA TATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
IDE_chr10_92446684_92579093	92524325	T T	TATTATAT others(603): Show TATTATATTATATATAATATATTTTATATAATATATAATATATATTATAT TATATATAATATATTTTATATAATATATAATATATATTATATTATATATA ATATATTTTATATAATATATAATATATATTATATTATATATAATATATTT TATATAATATATAATATATATTATATTATATATAATATATTTTATATAAT ATATAATATATATTATATTATATATAATATATTTTATATAATATATAATA TATATTATATTATATATAATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATTTTATATAATATA TAATATATATTATATTATATATATTTTATATAATATATAATATATATTAT ATTATATATAATATATTTTATATAATATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATATTATATTATATATAATATAT TTTATATAATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	314	0.0032	610	c.661 others(627): Show c.661+7422_661+7423insTATTATATAAAATATATTATATATAATA TAATATATATTATATATTATATAAAATATATTATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATATAATATAATATATATTATATATTATATAAAATAT ATTATATATAATATAATATATATTATATATTATATAAAATATATTATATA TAATATAATATATATTATATATTATATAAAATATATATAATATAATATAT ATTATATATTATATAAAATATATTATATATAATATAATATATATTATATA TTATATAAAATATATTATATATAATATAATATATATTATATATTATATAA AATATATTATATATAATATAATATATATTATATATTATATAAAATATATT ATATATAATATAATATATATTATATATTATATAAAATATATTATATATAA TATAATATATATTATATATTATATAAAATATATTATATATAATATAATAT ATATTATATATTATATAAAATATATTATATATAATATAATATATATTATA TATTATATAAAATATATTATATATAATATAAT	IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24			chr10	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(603): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAG ACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGG AGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	362	0.0028	610	c.968 others(625): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTC TGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132172930	C C	CTCCCTCT others(603): Show CTCCCTCTCGACGGCCTTCGCAGACTCTCCTTCCCTCTCTCTTCCCTCCT CTCTCTCCCCTTCCCTCTCTCTCTCCCTCTCCTTCCTCTCCCTCCCTTCT CTCTCTCCCTCTCTCCCTCTCTCTCCCCTCTCCTTCCCTCTCTCTCCCAC CCTCTCCTCTCTCCCTCCCCCCTCTCCTCTCTCCTCTCTCCCCTCTCCTT CCCTCTCTCTCGCTCCCCCTCTCCTTCCCTCTCTCTCTCCCTCTCCTTCC TCTCTCTCTCCCTCTCCTTCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCT CTCTCTCCCCCTCTCCTCCCCTCTCTCTCTCCCCCTCTCCTTCCCTCTCT CTCTCACCCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTCCTCTC TCATCACCCCCTCTCCTTCCCTCTCTCTCTCTCCCCCTCTCCTTCCCTCT CTCCCTCCCCCTCTCCTTCCCTCTCTCCGTCCCCCCTCTCCTTCCCCCTC TCCTTCCCCCTACTCCCTCCCCTCTCCTTCCCTCTCTCCCTCCCCATCTC CGTCCCTCTCTCCCTCTCCCCTCTCCTTCCCTCTCTCTCCCTCTCCTCCC TCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0041 a0004c0014t0001g0041	1	158	0.0063	610	c.11 others(631): Show c.1103+3897_*1103+3898insTCCCTCTCGACGGCCTTCGCAGAC TCTCCTTCCCTCTCTCTTCCCTCCTCTCTCTCCCCTTCCCTCTCTCTCTC CCTCTCCTTCCTCTCCCTCCCTTCTCTCTCTCCCTCTCTCCCTCTCTCTC CCCTCTCCTTCCCTCTCTCTCCCACCCTCTCCTCTCTCCCTCCCCCCTCT CCTCTCTCCTCTCTCCCCTCTCCTTCCCTCTCTCTCGCTCCCCCTCTCCT TCCCTCTCTCTCTCCCTCTCCTTCCTCTCTCTCTCCCTCTCCTTCCTCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCTCTCCCCCTCTCCTCCCCTCTC TCTCTCCCCCTCTCCTTCCCTCTCTCTCTCACCCCCCTCTCCTTCCCTCT CTCTCTCTCCCCCTCTCCTCCTCTCTCATCACCCCCTCTCCTTCCCTCTC TCTCTCTCCCCCTCTCCTTCCCTCTCTCCCTCCCCCTCTCCTTCCCTCTC TCCGTCCCCCCTCTCCTTCCCCCTCTCCTTCCCCCTACTCCCTCCCCTCT CCTTCCCTCTCTCCCTCCCCATCTCCGTCCCTCTCTCCCTCTCCCCTCTC CTTCCCTCTCTCTCCCTCTCCTCCCTCTCTCTCCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23			chr10	TogoVar
KIF25_chr6_167992671_168050091	167997496	A A	ATCTGCAG others(603): Show ATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAG AGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0028 a0019c0026t0028	a0019c0026t0028g0285 a0019c0026t0028g0285	1	375	0.0027	610	c.-19 others(621): Show c.-1973_-1972insTCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGG AATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		174		chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(603): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGG CGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCG CTGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGC TGCGGGGTGGG	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	375	0.0027	610	c.317 others(627): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCT GCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG CGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCG GGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCG GGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGTGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA5_chr20_62304065_62372312	62360519	G G	GTGGAGGG others(603): Show GTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGT GGGTGGATGGATAGGTGGATGGGTGGGTGGAGGAATAGATGGGTGGGTGG GTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGT GGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAG ATGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGT GGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGG GTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAG GGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGG GTGGAGGAATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGAT GGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGGTGGGTGG AGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGG GTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGT GGGTGGGTGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0125 a0002c0125	a0002c0125t0001 a0002c0125t0001	a0002c0125t0001g0027 a0002c0125t0001g0027	1	186	0.0054	610	c.450 others(627): Show c.450+1880_450+1881insTCCACCCACCCACCCACCTACCTATCCT TCTACCCACCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCT ATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCATCCACC CACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCATCTATCCC TCCACCCACCCACCCCCCCATCTATTCCTCCACCCACCCACCCACCTATC CATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCA CCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTC CACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCA CCCATCTATCCCTCCACCCACCCACCCACCCATCTATTCCTCCACCCACC CACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATTCCTCCA CCCACCCACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATT CCTCCACCCACCCATCCACCTATCCATCCACCCACCCACCCACCTACCTA TCCTTCTACCCACCCACCCATCTATCCCTCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(603): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTATATATATTTATATATAGTTAT ATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTAT GTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATTTATATAT ATAGTTATATATTTATATATATTTATATATATTTATATATATATTTATAT ATTTATTTATATATATTTATATATGTATTTATATATATTTATATATATTT ATATGTATTTATATATATTTATATATATTTATATATATATATATAAATAT ATTTATATATATAAATATAAATATTTATATATATTTATATATATTTATAT ATATATTTATGTATATTTATATATATTTATATATATATTTATGTATATTT ATATATGTATT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03017.hp2 HG03831.hp2 HG00323.hp2 HG03017.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0018g0037 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0018g0037	3	260	0.0115	610	c.125 others(627): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTATAT ATATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATTTATATATATAGTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTAT ATATATTTATATATATTTATATGTATTTATATATATTTATATATATTTAT ATATATATATATAAATATATTTATATATATAAATATAAATATTTATATAT ATTTATATATATTTATATATATATTTATGTATATTTATATATATTTATAT ATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	857822	A A	AGTGGTGT others(603): Show AGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCACGGGATGGGTGTGCAG TGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGCAGTGCTGTCACGGGATGGGTGTGCAGTGCT GTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCAC GGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTC TCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGG GATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0242 a0001c0018t0001g0242	1	294	0.0034	610	c.153 others(629): Show c.1530-3117_1530-3116insGCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACGCACACC CATCCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGT CCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCG AGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACA CCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACC CATCCCGAGACACCACTGCACACCCATCCCGTGACAGCACTGCACACCCA TCCCGTGACAGCACTGCACACCCATCCCGAGACACCACTGCACACCCATC CCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCC GTGACACCACTGCACACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(603): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCT ACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	296	0.0034	610	c.368 others(627): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGT GTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCC GGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(603): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0032 a0002c0002t0004g0032	1	296	0.0034	610	c.368 others(627): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(603): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0198 a0001c0001t0004g0198	1	296	0.0034	610	c.368 others(627): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACGCTT others(603): Show CCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCACACTTACACATGCTTACAT CTACCTCCACACCCACACTCACACCCACCCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACACCC ACACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACAC CCACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACCC ACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACAC TCATGCTTACATCTACCTCCACGCCCACACTCACACCCACCCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTCACACCCACCCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTTAC ATCTACCTCCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0250 a0001c0002t0004g0250	1	290	0.0035	610	c.129 others(627): Show c.1290-944_1290-943insGCTTACATCTACCTCCACACCCACACTC ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACATGCTTACATCTACCTCCACACCCACACTCACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACAATTACACCCACACTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTCACACCCACCCACACTCACACCCACCCACACTTACAC CCACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCACACTTACACTCATGCTTACATCTACCTCCACGCCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(603): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAGAATATAATTATATAATATATAATTATATTCTATATAGAA TATAATTATATAATATATAATTATATTCTATATTATATAATTATAATATA ATTATATAATATAATTATATTATATATAATTATATTAAATATATTATATA ATATATAATTATATTATATATGATATAATATATAATTATATTATATATTA TATAATATATAATTATATTATATATTATATCATATATAATTATATTATAT ATTATATCATATATAATTATATTATATATTATATCATATATAATTATATT ATATATTATATCATATATAATTATATTATATATTATAATACATTTAATAT AATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTAT AATATATAATATATTATATATAATTATATTATAACATATTATATATAATT ATATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATA TATAATTATATTCTATATATAATTATATATAATATAATTATATTCTATAT AGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	610	c.-32 others(621): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATTATATAATATATAATATAATTATATAT TATATCATATATAATATAATTATATATTATATAATATATTTAATATAATT ATATATAATATAATTATATTATATAATTATATTATAATTATATAATATAG AATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATAT ATTATATAATTATATTCTATATAGAATATAATTATATATTATATAATTAT ATTCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7061804	A A	AATATATA others(603): Show AATATATAATTATATTCTATATAGAATATAATTATATAATATATAATTAT ATTCTATATAGAATATAATTATATAATATATAATTATATTCTATATAGAA TATAATTATATAATATATAATTATATTCTATATTATATAATTATAATATA ATTATATAATATAATTATATTATATATAATTATATTAAATATATTATATA ATATATAATTATATTATATATGATATAATATATAATTATATTATATATTA TATCATATATAATTATATTATATATTATATCATATATAATTATATTATAT ATTATATCATATATAATTATATTATATATTATATCATATATAATTATATT ATATATTATATCATATATAATTATATTATATATTATAATACATTTAATAT AATTATATTATAGATTATAATCTATAATATAATTATATTAATAGTATTAT AATATATAATATATTATATATAATTATATTATAACATATTATATATAATT ATATTATAGATCATAATCTATAATATAATTATATATAATATGTTATAATA TATAATTATATTCTATATATAATTATATATAATATAATTATATTCTATAT AGAATATAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0005 a0002c0004t0001g0005	1	288	0.0035	610	c.-32 others(621): Show c.-3200_-3199insAATTATATTCTATATAGAATATAATTATATTATA TATAATTATATATAGAATATAATTATATATTATAACATATTATATATAAT TATATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAAT ATAATTATATATAATATATTATATATTATAATACTATTAATATAATTATA TTATAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATAT AATATAATTATATATGATATAATATATAATATAATTATATATGATATAAT ATATAATATAATTATATATGATATAATATATAATATAATTATATATGATA TAATATATAATATAATTATATATGATATAATATATAATATAATTATATAT TATATCATATATAATATAATTATATATTATATAATATATTTAATATAATT ATATATAATATAATTATATTATATAATTATATTATAATTATATAATATAG AATATAATTATATATTATATAATTATATTCTATATAGAATATAATTATAT ATTATATAATTATATTCTATATAGAATATAATTATATATTATATAATTAT ATTCTATATAGAATATAATTATATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3129		chr19	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(603): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCACCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGC CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0003 a0010c0016t0003	a0010c0016t0003g0182 a0010c0016t0003g0182	1	292	0.0034	610	c.218 others(625): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAG CCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGT GCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGG GGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(603): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGC CCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCG CCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGGCTCCTGG CGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCACGCCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0093 a0093	a0093c0049 a0093c0049	a0093c0049t0003 a0093c0049t0003	a0093c0049t0003g0029 a0093c0049t0003g0029	1	292	0.0034	610	c.218 others(625): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTG GGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACAC TCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAG CCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGG GGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(603): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCC GCCCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCAACCCCATCTG GGAACCGACTGTCTCTGCCCAACCGCCAACCCATCTGGGAGGTGAGGAGC GTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCACCCGGC AGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCG TCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAG GGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTT CCCTGCCGCCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0284	1	320	0.0031	610	c.622 others(629): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTTGGGCAGAGACAGTCGGTTCCCAGATGGGGTTGCGG CTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGGCG CTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACTTC CTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTGGG TGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(603): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCC GCCCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTG GGAACCGACTGTCTCTGCCCAACCGCCAACCCATCTGGGAGGTGAGGAGC ATCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCACCCGGC AGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCG TCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAG GGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTT CCCTGCCGCCA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0250 a0001c0001t0015g0250	1	320	0.0031	610	c.622 others(629): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGATGCTCCTCACCTCCCA GATGGGTTGGCGGTTGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGGCG CTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACTTC CTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTGGG TGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(603): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCC GCCCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTG GGAACCGACTGTCTCTGCCCAACCGCCAACCCATCTGGGAGGTGAGGAGC GTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCACCCGGC AGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCG TCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAG GGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGACAGCCGCCACCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTT CCCTGCCGCCA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18943.hp1 HG02165.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0171 a0001c0001t0008 a0001c0001t0171	a0001c0001t0008g0233 a0001c0001t0171g0220 a0001c0001t0008g0233 a0001c0001t0171g0220	2	320	0.0063	610	c.622 others(629): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGTGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTTGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGGCG CTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACTTC CTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTGGG TGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(603): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCC GCCCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTG GGAACCGACTGTCTCTGCCCAACCGCCAACCCATCTGGGAGGTGAGGAGC GTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCACCCGGC AGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCG TCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAG GGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTT CCCTGCCGCCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01975.hp1 others(4): Show HG00621.hp1 HG00738.hp2 HG01975.hp1 HG02015.hp2 NA18612.hp1 NA18944.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 others(3): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0034 a0001c0001t0111 a0001c0001t0128 a0001c0001t0143	a0001c0001t0013g0231 a0001c0001t0014g0273 a0001c0001t0014g0318 others(4): Show a0001c0001t0013g0231 a0001c0001t0014g0273 a0001c0001t0014g0318 a0001c0001t0034g0286 a0001c0001t0111g0071 a0001c0001t0128g0140 a0001c0001t0143g0160	7	320	0.0219	610	c.622 others(629): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTTGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGGCG CTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACTTC CTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTGGG TGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(603): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCC GCCCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTG GGAACCGACTGTCTCTGCCCGACCGCCAACCCATCTGGGAGGTGAGGAGC GTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCAGCCGGC AGCCGCCCCATCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCG TCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAG GGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTT CCCTGCCGCCA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp2 HG02647.hp1 others(1): Show HG01255.hp1 HG02630.hp2 HG02647.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0088 a0001c0001t0116 others(1): Show a0001c0001t0023 a0001c0001t0088 a0001c0001t0116 a0001c0001t0184	a0001c0001t0023g0141 a0001c0001t0088g0043 a0001c0001t0116g0042 others(1): Show a0001c0001t0023g0141 a0001c0001t0088g0043 a0001c0001t0116g0042 a0001c0001t0184g0098	4	320	0.0125	610	c.622 others(629): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGATGGGGCGGCTGCCGGCTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTCGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGGCG CTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACTTC CTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTGGG TGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342928	T T	TCGTCTGG others(603): Show TCGTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGT GAGGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTC TCTCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCC GCCCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTG GGAACCGACTGTCTCTGCCCGACCGCCAACCCATCTGGGAGGTGAGGAGC GTCTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCAGCCGGC AGCCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCG TCCAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAG GGAGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTG GGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGCGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTT CCCTGCCGCCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp2 HG02630.hp1 HG01496.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0117 a0001c0001t0121 a0001c0001t0112 a0001c0001t0117 a0001c0001t0121	a0001c0001t0112g0041 a0001c0001t0117g0048 a0001c0001t0121g0172 a0001c0001t0112g0041 a0001c0001t0117g0048 a0001c0001t0121g0172	3	320	0.0094	610	c.622 others(629): Show c.622-12313_622-12312insTGGCGGCAGGGAAGAGGCGCCCCCCA CCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCAGA AGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGGCG GCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCTGG GCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGCTGAAGGGGC TCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCCCA GATGGGTTGGCGGTCGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGCGG CTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGGCG CTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACTTC CTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTGGG TGGCCGGTCAGAGGGGCTCCTCACATCCCAGACG	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342930	G G	GTCTGGGA others(603): Show GTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGTGA GGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTCTC TCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCCGC CCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTGGG AACCGACTGTCTCTGCCCAACCGCCAACCCATCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCACCCGGCAG CCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCGTC CAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAGGG AGGTGGGGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTGGG GGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG CGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTTCC CTGCCGCCACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0191 a0001c0001t0130 a0001c0001t0191	a0001c0001t0130g0092 a0001c0001t0191g0106 a0001c0001t0130g0092 a0001c0001t0191g0106	2	320	0.0063	610	c.622 others(629): Show c.622-12315_622-12314insTGTGGCGGCAGGGAAGAGGCGCCCCC CACCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCA GAAGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGG CGGCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCT GGGCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGG GCTCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCC CAGATGGGTTGGCGGTTGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGC GGCTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGG CGCTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACT TCCTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTG GGTGGCCGGTCAGAGGGGCTCCTCACATCCCAGA	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOB3B_chr9_27320209_27534814	27342930	G G	GTCTGGGA others(603): Show GTCTGGGATGTGAGGAGCCCCTCTGACCGGCCACCCAGTCTGGGAAGTGA GGAGCGCCTCTTCCCGGCCGCCATCCCATCTAGGAAGTGAGGAGTGTCTC TCCCCGGCCGCCCATCGTCTGAGATGTGGGGAGCGCCTCTGCCCTGCCGC CCTGTCTGGGATGTGAGGAGTGCCTCTGCCCAGCCGCGACCCCATCTGGG AACCGACTGTCTCTGCCCAACCGCCAACCCATCTGGGAGGTGAGGAGCGT CTCTGCCCGGCCGCCCCCTCTGAGAAGTGAGGAGCCCCTTCACCCGGCAG CCGCCCCGTCTGCTAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCGTC CAGGAGGTGGGGGGCAGCCCCTGCCCGGCCAGCCGCCCCATCCAGGAGGG AGGTGGGGGTCAGCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGT GGGGGGACAGCCGCCGCCCAGCCAGCCGCCCCTTCTGGGAGGGAGGTGGG GGGTCAGCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG CGCCTCCGCCCGGCCACTGCCCCGTCTGGGAGGTGGGGGGCGCCTCTTCC CTGCCGCCACA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0016 a0001c0001t0055g0016	1	320	0.0031	610	c.622 others(629): Show c.622-12315_622-12314insTGTGGCGGCAGGGAAGAGGCGCCCCC CACCTCCCAGACGGGGCAGTGGCCGGGCGGAGGCGCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCACCTCCCTCCCA GAAGGGGCGGCTGGCTGGGCGGCGGCTGTCCCCCCACCTCCCTCCCGGAC GGGGCAGCTGGCCGGGCGGGGGCTGACCCCCACCTCCCTCCTGGATGGGG CGGCTGGCCGGGCAGGGGCTGCCCCCCACCTCCTGGACGGGGCGGCTGCT GGGCGGAGGGGCTCCTCACTTAGCAGACGGGGCGGCTGCCGGGTGAAGGG GCTCCTCACTTCTCAGAGGGGGCGGCCGGGCAGAGACGCTCCTCACCTCC CAGATGGGTTGGCGGTTGGGCAGAGACAGTCGGTTCCCAGATGGGGTCGC GGCTGGGCAGAGGCACTCCTCACATCCCAGACAGGGCGGCAGGGCAGAGG CGCTCCCCACATCTCAGACGATGGGCGGCCGGGGAGAGACACTCCTCACT TCCTAGATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCCAGACTG GGTGGCCGGTCAGAGGGGCTCCTCACATCCCAGA	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(603): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGG GGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGG GAGGGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAG GGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGGGGAGGGGAGGG GGGAGGGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGG GAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGA AGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19086.hp2 NA18969.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0198 a0002c0002t0002g0204 a0002c0002t0002g0198 a0002c0002t0002g0204	2	272	0.0074	610	c.250 others(625): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTACCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTT TCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTT TCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCC CCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(603): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTTATATATTATATTAATATATATTA ATTATATTAATATATATTAATTATATTAATATATATTAATATATATTAAT TATATTAATATATATTAATATAATTAATATATATTAATATATATTATATT AATATATATTATATTAATATATATTAATATATATTATATTAATATATATT AATATATATTATATTAATATATATTATATTAATATATATTAATATATATT ATATTAATATATATTAATATATATTATATTAATATATATTATATTAATAT ATATTAATATATATTATATTAATATATATTATATTAATATATATTATATT AATATATATTAATATATATTATATTAATATATATTATATTAATATATATT AATTATATTAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0008 a0002c0006t0001g0008	1	352	0.0028	610	c.29- others(623): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTTATATATTATATTAATATATATTAAT TATATTAATATATATTAATTATATTAATATATATTAATATATATTAATTA TATTAATATATATTAATATAATTAATATATATTAATATATATTATATTAA TATATATTATATTAATATATATTAATATATATTATATTAATATATATTAA TATATATTATATTAATATATATTATATTAATATATATTAATATATATTAT ATTAATATATATTAATATATATTATATTAATATATATTATATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTATATTAA TATATATTAATATATATTATATTAATATATATTATATTAATATATATTAA TTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(603): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTTATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTAATTATATTAATAT ATATTAATATATATTAATTATATTAATATATATTAATATAATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTAATATAT ATTATATTAATATATATATATTAATATATATTAATATATATTATATTAAT ATATATTAATATATATTATATTAATATATATTAATATATATTATATTAAT ATATATTATATTAATATATATTAATATATATTATATTAATATATATTATA TTAATATATATTAATATATATTATATTAATATATATTAATATATATTATA TTAATATATATTAATATATATTATATTAATATATTATATTAATATATATT AATTATATTAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0142 a0002c0006t0001g0142	1	352	0.0028	610	c.29- others(623): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTTATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATATATATTATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATATATTAATATATATTAATATATATTATATTAATAT ATATTAATATATATTATATTAATATATATTAATATATATTATATTAATAT ATATTATATTAATATATATTAATATATATTATATTAATATATATTATATT AATATATATTAATATATATTATATTAATATATATTAATATATATTATATT AATATATATTAATATATATTATATTAATATATTATATTAATATATATTAA TTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(603): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGT CGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGA GGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAG CCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 NA18906.hp1 HG01169.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0026 a0001c0001t0006g0120 a0001c0001t0004g0026 a0001c0001t0006g0120	2	155	0.0129	610	c.155 others(629): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGGAG GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCCG CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(603): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	439	0.0023	610	c.-16 others(621): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(603): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATA GTATATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATACTATATATACTCTATAGTATATATAGTATATATACTATAGA GTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATA TACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	439	0.0023	610	c.-16 others(621): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATACTATATATACTCTATAGTATATATAG TATATATACTATAGAGTATATATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAG TATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(603): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGG TGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGT GGTGATGATGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGA GTGGTGAAGGTGGTGGTGATGATGGTGACGACAGTGAGTGGTGAAGGTGA TGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGT GACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19060.hp1 NA18952.hp2 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0262 a0002c0002t0002g0263	2	380	0.0053	610	c.255 others(629): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCA CCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCAC CATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCACCATC ACCTTCACCACTCACTGTCGTCACCACCATCACCATCACCTTCACCACTC ACTGTCGTCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCA CCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCAT CACCTTCACCACTCACTGTCGTCACCATCATCACCACCACCTTCACCACT CACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCATCATCACCA CCACCTTCACCACTCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(603): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAATATGTATTACATAT ATGTAATACATATATAACATGTATTACATATATGTAATACATATATAACA TGTATTACATATATGTAATACATATATAACATGTATTACATATATGTAAT ACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	400	0.0025	610	c.70 others(621): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ATATGTATTACATATATGTAATACATATATAACATGTATTACATATATGT AATACATATATAACATGTATTACATATATGTAATACATATATAACATGTA TTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PGAM5_chr12_132705842_132727734	132718575	G G	GGTCCTGG others(603): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGG GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCG TGCTGGGTGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCT GGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGG GGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGT GCTGGGTGGGGGGTCCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGG GTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGG TCCTGGGTGGGGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC TGGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	394	0.0025	610	c.719 others(625): Show c.719+499_719+500insGGTCCTGGGTGGGGTGCGTGCTGGGTGGGG GTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG GGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGG GGTGCATGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGG TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCGTG CTGGGTGGGGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGG TGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGG GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCAT GCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTG GGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTG GGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGT GCGTGCTGGGTGGGGGTGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PNPLA7_chr9_137454952_137555402	137517968	T T	TCACTCCA others(603): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCCCCCAC TCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCT GTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCTCA CTCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTC TGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCATCCCT CATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGACTCCAC TCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGCTCACTCCATCC CCCACTCACTCACTCGACTCTGTCCACTCCATCCCCCACTCACTCACTCC ACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATC CCTCACGCACTCACTCCACTCTGTCCACTCCATCCCCCACTCACTCACTC CACTCTGCTCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCA TCCCTCATTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTGAC TCCACTCTGTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0172 a0017c0029t0001g0172	1	188	0.0053	610	c.108 others(629): Show c.1084+1948_1084+1949insGACAGAGTGGAGTCAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGACAGAGT GGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGG GGATGGAGTGGACAGAGTGGAGTGAGTGCGTGAGGGATGGAGTGGACAGA GTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGG GGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTGAGCAG AGTGGAGTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTCAGTGAGT GGGGGATGGAGTGAGCAGAGTGGAGTGAGTGAATGAGGGATGGAGTGGAC AGAGTGGAGTGAGTGAGTGGGGGATGGAGTGAGCAGAGTGGAGTGAGTGA GTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGG ACAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTG AGTGGGGGATGGAGTGGACAGAGTCGAGTGAGTGAGTGGGGGATGGAGTG AGCAGAGTGGAGTGAGTGAGTGGGGGATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(603): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGACTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATATATGTGTATATATATATATGT ATATATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGA AAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCA GGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGG CCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0262 a0001c0001t0023g0262	1	320	0.0031	610	c.98- others(625): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA CTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATATATGTGTATATATATATATGTATATATATA TATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTT AAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCT TGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGG ACAAAAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(603): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATATATTATATATGCATATTATGTTTAGGACACAGCTGAGGA AAAGGGGTTAAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCA GGTGTTTCTTGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGG CCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01074.hp2 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0188 a0001c0001t0002g0187 a0001c0001t0001g0188 a0001c0001t0002g0187	2	320	0.0063	610	c.98- others(625): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TATATTATATATGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTT AAAACAGGGAATTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCT TGAGCCTCTTATCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGG ACAAAAAAAATGGGTGTCACTGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRPF31_chr19_54110754_54136713	54133769	C C	CTCTCCCT others(603): Show CTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACC TTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCC CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTC CCCTCTCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	227	0.0044	610	c.23 others(621): Show c.2337_*2338insTCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCC CTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCC CTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTT CCCTGTCTCCACCTCCCCTCTCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2057		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392560	A A	AATGGTGA others(603): Show AATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATAATGGTGATGG TGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTG ATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGT GATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGA TGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATG TGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTG ATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGA TGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATG GTGATGGTGGTGATGATGGTGGTGGTGGTGATGATGGTGATGGTGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGAT GGTAGTGGTGATGGGGGTGGTGGTAATGATGGTGATGATGGTGATGGTGG TGATGATGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0008 a0003c0005t0001g0008	1	374	0.0027	610	c.-46 others(621): Show c.-4667_-4666insATGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAAT GATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAA TGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGG GTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATG GTGATGGTGATGATGGTGATGGTGGTGATGATGGTGGTGGTGGTGATGAT GGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGTGAT AATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGGTGA TGATGGTGATGGTGGTGATGATGGTG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4639		chr10	TogoVar
RAB40C_chr16_585066_634268	618540	G G	GGGTGTAC others(603): Show GGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCAGG GCCATGTGTGTGTGCAGCCATGTGCACAGGTCTGGCGGGGGCACTGGGGC CATGTGTGCAGTGTGTGCGCAGGTGTGGTGTACTTGGAGCTGTGTGTGTG CACAGGTGTAGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATGTGCAC AGGTCTGGCGGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGTGTGGT GTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGGCCATG TGTATGTGCAGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCCATGTG TGCAGTGTGTGCTCAGGTGTGTACTTGGAGCTGTGTGTGTGCACAGGTGT AGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATTTGCACAGGTCTGGC GGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGTGTGGTGTACTTGGA GCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGGCCATGTGTGTGTGC AGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCCATGTGTGCAGTGTG TGCTCAGGTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	350	0.0029	610	c.264 others(625): Show c.264+347_264+956dupCCATGTGCACAGGTCTGGCGGGGGCACTGG GGCCATGTGTGCAGTGTGTGCGCAGGTGTGGTGTACTTGGAGCTGTGTGT GTGCACAGGTGTAGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATGTG CACAGGTCTGGCGGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGTGT GGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGGCC ATGTGTATGTGCAGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCCAT GTGTGCAGTGTGTGCTCAGGTGTGTACTTGGAGCTGTGTGTGTGCACAGG TGTAGTGGGTGCACTCAGGGCCATGTGTGTGCAGGCATTTGCACAGGTCT GGCGGACGCACTGGGGCCATGTGTGCAGTGTGTGCAGGTGTGGTGTACTT GGAGCTGTGTGTGTGCACAGGTGTAGTGGGTGCACTCGGCCATGTGTGTG TGCAGGCATGTGCACAGGTCTGGCGGGGGCACTGGGGCCATGTGTGCAGT GTGTGCTCAGGTGTGGTGTACTTGGAGCTGTGTGTGTGCACAGGTGTAGT GGGTGCACTCAGGGCCATGTGTGTGTGCAG	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(603): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATCG AGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAAA AATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGCC GAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTCT CAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGA CTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	366	0.0027	610	c.433 others(625): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAGCCGGGCGTG GTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGAT CACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAG TCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(603): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATCG AGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAAA AATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGCC GAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTCT CAAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGA CTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	366	0.0027	610	c.433 others(625): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGT TGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGC CTCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAGA CGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGA TCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACC GCGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAGCCGGGCGTG GTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGAT CACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAG TCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(603): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CAAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGA CTCGAGCCATC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18957.hp2 NA18962.hp1 others(1): Show NA18612.hp2 NA18957.hp2 NA18962.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0195 a0001c0001t0001g0196 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197	4	366	0.0109	610	c.433 others(625): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGTT GCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCCCCGCC TCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCG CGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGTG GTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGAT CACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAG TCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(603): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGA CTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	366	0.0027	610	c.433 others(625): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGTT GCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGCC TCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCG CGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGTG GTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGAT CACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAG TCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(603): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATC GAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAA AAATTAGCTGGGGGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGC CGAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTC TCAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGG CTGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGA CTCGAGCCATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03579.hp1 HG03130.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	366	0.0055	610	c.433 others(625): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGTT GCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCGCTGCAACCCCCGCC TCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCACCCCCAGCTAATTTTTATACTTTTAATAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCG CGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAAGCCGGGCGTG GTGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGAT CACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCAT CTCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAG TCCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar

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Search Results (Total: 10000 hits)