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
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(551): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTA TAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTA TATTTATAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19057.hp1 NA18979.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0272 a0001c0001t0001g0255 a0001c0001t0001g0272	2	306	0.0065	558	c.130 others(577): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(551): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0195 a0001c0002t0003g0195	1	249	0.0040	558	c.49- others(573): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(551): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCATCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCACCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0031 a0031	a0031c0034 a0031c0034	a0031c0034t0031 a0031c0034t0031	a0031c0034t0031g0067 a0031c0034t0031g0067	1	262	0.0038	558	c.775 others(573): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(551): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCACCCATTCATCCATTCACC CACCCATTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTTACCTACCCATTAATTCACCCA CCCTTCCACCACCCACCCACCCATCCATATACCCACCCACCCATTCACCC ATCCATTCATCCATCCACCCACCCACCCATTCACCCACCCACCCAGCCAT CTCACCCATTCACCCATCCACTCATCCATTCACCTATCCACCCATCCATC CACTCATCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0011 a0007c0009t0011	a0007c0009t0011g0121 a0007c0009t0011g0121	1	262	0.0038	558	c.775 others(573): Show c.775-337_775-336insGGATGAGTGGATGGATGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTGATGGGTGGGTGG GTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTGGGTGAATGGATG GGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGATGGT GAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AGAP1_chr2_235489043_236136793	235802979	T T	TGTGATGA others(551): Show TGTGATGATGGTTGTGATGGTGGTGATGGTTGTGGTTGTGATGGTGATGG TGATGGCTGTGGTGATGATGGTTGTGATGGTGGTGATGATGGTCGTGGTG ATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATGGTGATGATGGTTGT GGTTGTGGTGGTGATGATTGTGATGGTGATGATGCTGGTTGTGGTTGTGG TGATGGTGATGGTTGTGATGGTGGTGATGGTTGTGGTGATGATGGTTGTG GTGATGATGGTTGTGGTGATGGTTGTGATGATGGTTGTGATGGTGATGAT GGTTGTGATGGTGATGATGGTTGTGGTTGTGATGGTGGTGGTGATGGTTG TGATGATGGTTGTGGTTGTGATGATGGTTGTGATTGTGGTGATGGTGATG GTTGTGATGGTGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGTTGT GATGATGGTTGTGATGGTGGTGATGGTTGTGGTGATGGTGATGGTTGTGA TGGTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTT GTGATGGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02717.hp2 others(7): Show HG01884.hp1 HG02109.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02976.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(6): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0003t0009 a0001c0003t0012 a0001c0003t0047 a0001c0005t0001 a0001c0005t0031 a0001c0014t0016	a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0003t0002g0005 others(7): Show a0001c0001t0003g0034 a0001c0001t0003g0090 a0001c0003t0002g0005 a0001c0003t0003g0001 a0001c0003t0009g0096 a0001c0003t0012g0066 a0001c0003t0047g0033 a0001c0005t0001g0057 a0001c0005t0031g0031 a0001c0014t0016g0048	10	98	0.1020	558	c.957 others(575): Show c.957+3463_957+3464insATGGTTGTGATGGTGGTGATGGTTGTGG TTGTGATGGTGATGGTGATGGCTGTGGTGATGATGGTTGTGATGGTGGTG ATGATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATTGTGGTTGTGAT GGTGATGATGGTTGTGGTTGTGGTGGTGATGATTGTGATGGTGATGATGC TGGTTGTGGTTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGGTTGTG GTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTTGTGATGATGGT TGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGG TGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATT GTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTGATGGTGAT GATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGTTGTGGTGA TGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGTG ATGGTGATGATGGTTGTGATGGTGGTGATG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA2_chr15_60342151_60402986	60349889	A A	AGAAGGCA others(551): Show AGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCAAGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19057.hp1 HG02027.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0205 a0001c0001t0001g0110 a0001c0001t0001g0205	2	334	0.0060	558	c.838 others(573): Show c.838-693_838-692insCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCTTGCCTTCCCCTCCCT CTCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349921	C C	CAGGGGAA others(551): Show CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	334	0.0030	558	c.838 others(573): Show c.838-725_838-724insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60349975	G G	GAGGGGAA others(551): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	334	0.0030	558	c.838 others(573): Show c.838-779_838-778insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(551): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAA GGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18939.hp2 NA18949.hp1 others(9): Show HG02129.hp1 NA18939.hp2 NA18949.hp1 NA18966.hp1 NA18971.hp2 NA18995.hp1 NA18998.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19068.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0179	12	334	0.0359	558	c.838 others(573): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(551): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAAG GAGGCAGGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGAGAAGG CAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	334	0.0030	558	c.838 others(573): Show c.838-851_838-850insGCCTCCCTGCCTTCTCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350119	G G	GAGGGGAA others(551): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	334	0.0030	558	c.838 others(573): Show c.838-923_838-922insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(551): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	334	0.0030	558	c.838 others(573): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCTC others(551): Show ACCACCTCCACCACCTCCACCACCTCCACCACCACCTCCAACTCCACCAC CTCCACCTCCACCTCCACCACCACCACCTCCACCTCCACCACCACCACCT CCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCACC TCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCACCTCCAC CACCTCCACCACCACCACCTCCACCTCCACCACCACCACCACCACCACCT CCACCACCTCCACCACCTCCACCACCTCCACCACCTCCACCTCCACCACC ACCTCCACCACCACCACCACCACCTCCACCACCACCACCTCCACCACCTC CACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCACCACCTCCACCACCACCACCACCACC ACCTCCACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCAC CACCTCCACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCA CCACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	2	296	0.0068	558	c.67 others(569): Show c.6713_*6714insAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGA GGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGAGGTGG TGGAGTTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGT GGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGAGGTGGTGGAG GTGGTGGAGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGA GGTGGAGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGG AGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTG GTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAGGTGGAGGT GGTGGTGGTGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGG AGGTGGTGGAGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
ARSF_chrX_3036471_3117727	3037166	T T	TATATTAT others(551): Show TATATTATATATAAAATATATATAATATATATATTATATATAAAATATAT AATATATATATTATATATAAAATATATATAATATATATATTATATATAAA ATATATAATATATATATTATATATAAAATATATATAATATATATTATATA TAAAATATATAAAATATATATAATATATATATTATATATATAATATATAT AATATATATATTATATATATAATATATATATATATATATTATATATATTA TATATAAAATATATATAATATATATTATATATAAAATATATATAATATAT ATAATATATATATCATATATAAAATATATATAATATATATATATTATATA TATTTTATATATGATATATATATTATATATATTATATATATTTTATATAT AATATATATTATATATATTTTATATATAATTATATATATATAAAATATAT ATAATATATATATTATATATAAAATATATATAATATATATAATATATATA TTATATATAAAATATATATAATATATATAATATATATATTATATATAAAA TATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	193	0.0052	558	c.-45 others(569): Show c.-4526_-4525insATATTATATATAAAATATATATAATATATATATT ATATATAAAATATATAATATATATATTATATATAAAATATATATAATATA TATATTATATATAAAATATATAATATATATATTATATATAAAATATATAT AATATATATTATATATAAAATATATAAAATATATATAATATATATATTAT ATATATAATATATATAATATATATATTATATATATAATATATATATATAT ATATTATATATATTATATATAAAATATATATAATATATATTATATATAAA ATATATATAATATATATAATATATATATCATATATAAAATATATATAATA TATATATATTATATATATTTTATATATGATATATATATTATATATATTAT ATATATTTTATATATAATATATATTATATATATTTTATATATAATTATAT ATATATAAAATATATATAATATATATATTATATATAAAATATATATAATA TATATAATATATATATTATATATAAAATATATATAATATATATAATATAT ATATTATATATAAAATATATATAA	ARSF	ENSG00000062096.15	transcript	ENST00000381127.6	protein_coding		4304		chrX	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(551): Show ATATATATATAGTTTATATATATATAGTTTATATATATATACTATATATA TAGTTTATATATACTATATATATAGTTTATATATATATACTATATATAGT TTATATATATATACTATATATAGTATATATATAGTATATATATACTATAT ATATAGTTTATATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATACTATATATATAGTTTATATATATACTATATAT ATAGTTTATATATATATATACTATATATATAGTTTATATATATATAAACT ATATATATAGTATATATATATATAAACTATATATATAGTTTATATATATA TAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTATA TATATATATATACTATATATATAGTTTATATATATATACTATATATATAG TTTATATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	304	0.0033	558	c.331 others(577): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATATATAAACTATATATATA GTATATATATATATAAACTATATATATAGTTTATATATATATAAACTATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATATATAA ACTATATATATAGTATATATATATATAAACTATATATATAGTATATATAT AAACTATATATATAGTATATATATAAACTATATATATAGTATATATATAA ACTATATATATAGTATATATATATAAACTATATATATAGTATATATATAC TATATATATACTATATATAGTATATATATATAAACTATATATAGTATATA TATATAAACTATATATATAGTATATATAAACTATATATATAGTATATATA TATAAACTATATATATATAAACTATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP13A3_chr3_194397677_194492002	194421136	A A	ATATATAT others(551): Show ATATATATATATAGTTTATATATATATAGTTTATATATATATACTATATA TATAGTTTATATATACTATATATATAGTTTATATATATATACTATATATA GTTTATATATATATACTATATATAGTATATATATAGTATATATATACTAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATATACTAT ATATATAGTTTATATATATACTATATATATAGTTTATATATATACTATAT ATATAGTTTATATATATATATAGTATATATATAGTTTATATATATATAAA CTATATATATAGTATATATATATATAAACTATATATATAGTTTATATATA TATAAACTATATATATAGTTTATATATATATATACTATATATATAGTTTA TATATATATATACTATATATATAGTTTATATATATATACTATATATATAG TTTATATATATATACTATATATATAGTTTATATATATATACTATATATAT AGTTTATATATATATACTATATATATAGTTTATATATATATATACTATAT ATATAGTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	304	0.0033	558	c.331 others(577): Show c.3314-1170_3314-1169insAAACTATATATATAGTATATATATAT ATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATAT ATATAAACTATATATATAGTATATATATATAAACTATATATATAGTATAT ATATATAAACTATATATATAGTATATATATATATAAACTATATATATAGT ATATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATATACTATATATATAGTTTATATATATATAAAC TATATATATACTATATATATATATAAACTATATATATAGTATATATATAA ACTATATATATAGTATATATATAAACTATATATATAGTATATATATAAAC TATATATATAGTATATATATATAAACTATATATATAGTATATATATACTA TATATATACTATATATAGTATATATATATAAACTATATATAGTATATATA TATAAACTATATATATAGTATATATAAACTATATATATAGTATATATATA TAAACTATATATATATAAACTATATATATATA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(551): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGTGG AGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0002 a0011c0035t0002	a0011c0035t0002g0201 a0011c0035t0002g0201	1	298	0.0034	558	c.955 others(575): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCAGAGCA GAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79336125	C C	CGCTCCCC others(551): Show CGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTC CCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACC CTCCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACC GCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCC GTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCG CTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCC TGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCT CCATGCCCTCCCTGGCACCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGC CGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGT CCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACCAGGCGCT CCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCGTGCCCTCCCTG GCACCAGGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	298	0.0034	558	c.202 others(575): Show c.2029-463_2029-462insCGTGCCCTCCCTGGCACCAGGCGCTCCC CTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCA CCAGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATG CCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGT GCACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCA GCACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGCGCTCCCCT CGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCCCTCCCTGGCACC AGGTGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGCACCCTCCATGCC CTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGCACCGCCGTGTGC ACCCTCCATGCCCTCCCTGGCACCAGGCGCTCCCCTCGCCCGTCCCCAGC ACCGCCGTGTGCACCCTCCGTGCCCTCCCTGGCACCAGGTGCTCCCCTCG CCCGTCCCCAGCACCGCCGTGTGCACCCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT4_chr11_364499_387117	374933	G G	GAGGGAGG others(551): Show GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAG GAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA AGGTGAGGA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	184	0.0054	558	c.784 others(573): Show c.784-521_784-520insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTG GAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAAGGTGAGGAAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(551): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGA AGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGG AAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(61): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00621.hp1 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01243.hp2 HG01358.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02886.hp1 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18951.hp2 NA18952.hp1 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18994.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19085.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0015 a0003c0010 a0001c0001 a0001c0015 a0003c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0015t0001 a0003c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0004g0001 a0001c0001t0005g0001 a0001c0015t0001g0001 a0003c0010t0001g0001	64	300	0.2133	558	c.-70 others(567): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(551): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGAGCGGGAGGAGGAAGGGGAAGAC GGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGG AGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGG AAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	300	0.0033	558	c.-70 others(567): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGAGCGGGAGGA GGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGG AAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAG GAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGA GGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(551): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCC TCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCAT CCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCC TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCC CCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	1	334	0.0030	558	c.-10 others(569): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAG CCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCA GCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCC AGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCC TCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(551): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCC TCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCAT CCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCC TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCGGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCC CCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0001 a0001c0001t0084g0001	1	334	0.0030	558	c.-10 others(569): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAG CCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCA GCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCC AGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CGGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCC TCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
BRD3OS_chr9_134020481_134036587	134025265	T T	TCCAGCCC others(551): Show TCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAAC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCT CCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTGCCCCTCCTCCTCC TCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAG CCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCAGCCCCTCCTCCTCAT CCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCC TCCAGCCCCTCCTCCTCTTCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCC AGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTT CAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCC CCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCC TCCTCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02630.hp1 HG03139.hp2 others(2): Show HG02004.hp2 HG02630.hp1 HG03139.hp2 HG03516.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0039 a0001c0001t0048 a0001c0001t0002 a0001c0001t0039 a0001c0001t0048	a0001c0001t0002g0002 a0001c0001t0039g0002 a0001c0001t0048g0002 a0001c0001t0002g0002 a0001c0001t0039g0002 a0001c0001t0048g0002	5	334	0.0150	558	c.-10 others(569): Show c.-1058_-1057insCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCC AGCTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCC TGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAG CCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCATCCA GCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCTCCC AGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTTCCAGCCCCTCCTCCCC AGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATC CAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCT CCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCCTTCC TCCTTCAGCCCCTCCTCCTCCAGC	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		215		chr9	TogoVar
C17orf67_chr17_56786913_56838920	56792825	G G	GTGATGGT others(551): Show GTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTG ATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGT GGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGA TGATGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATG GTGGTGGTGGTGGTGATGGTGATGATGGTGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATGATGG TGGTGATGGTGATGATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATG GTGGTGATGGTAGTGGTGGTGGTGATGGTGATGATGATGGTGGTGATGGT AGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGGTGATGGTGG TGATGGTGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	292	0.0034	558	c.21 others(573): Show c.21-474_*21-473insTCACCATCACCACCATCACCACCATCATCA CCATCACCACCATCATCACCATCACCACTACCATCACCACCATCATCATC ACCATCACCACCACCACTACCATCACCACCATCATCACCATCACCACCAC CACCATCACCACCATCATCACCATCACCACCATCATCACCACCACCATCA CCACCATCACCACCACCATCACCACCATCATCACCATCACCACCACCATC ACCATCATCACCATCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCATCACCACCATCATCACCATCACCACCATCATCA CCATCACCACCACCATCACCACCATCACCACCACCATCACCACCATCACC ATCACCACCACCACCATCACCACCATCATCACCATCACCACCACCATCAC CACCACCATCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCACCATCACC ACCATCATCACCATCACCACCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(551): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAG GGCGGGACGGCGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGGCGGG ACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAG GGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCG GGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGGCGGGACGG AGGGAGGGC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	2	410	0.0049	558	c.465 others(573): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCG TCCCGCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGC CCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCG TCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGC CCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCC TCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404767	A A	AGGGGGGG others(551): Show AGGGGGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCC TGCCCTGAGGGGTCTGAGGGGGTACGGGGTCCTGCCCTGAGGGGTGTGGA GGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTG TCCTGAGGGGTGTGGGGGGGACGGGGGTCCTGCCCTGAGGGGTGTGGAGG GGGGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGGTCCTGC CCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGG GGATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGGACGGGGGTCCTGCC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGG GGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGGTCCTGTC CTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGAGGGGG GATGGGGTCCTGCCCTGAGGGGTGTGGAGGGGGGACGGGGTCCTGCCCTG AGGGGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0113 a0001c0001t0113	a0001c0001t0113g0063 a0001c0001t0113g0063	1	322	0.0031	558	c.23 others(569): Show c.2328_*2329insCACACCCCTCAGGGCAGGACCCCGTCCCCCCTCC ACACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGG ACCCCGTCCCCCCCACACCCCTCAGGACAGGACCCCCGTCCCCCCCCTCA CACCCCTCAGGGCAGGACCCCGTCCCCCCCTCCACACCCCTCAGGGCAGG ACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCCGTCCCCCCCTCCA CACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGA CCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCCGTCCCCCCTCCACA CCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCCTCAGGGCAGGACC CCCGTCCCCCCCACACCCCTCAGGACAGGACCCCGTCCCCCCCTCACACC CCTCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCAGGGCAGGACCCC GTACCCCCTCAGACCCCTCAGGGCAGGACCCCATCCCCCCTCCACACCCC TCAGGGCAGGACCCCATCCCCCCC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		677		chr19	TogoVar
CAMK1D_chr10_12344547_12840545	12776122	A A	AGACTGTG others(551): Show AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCA GGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAG ACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAG GCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGA CTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGG CATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGAC TGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGC ATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACT GTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCA TTGATCAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18942.hp1 NA18999.hp2 HG00642.hp2 NA18942.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0001t0087 a0001c0002t0067 a0001c0001t0028 a0001c0001t0087 a0001c0002t0067	a0001c0001t0028g0099 a0001c0001t0087g0124 a0001c0002t0067g0053 a0001c0001t0028g0099 a0001c0001t0087g0124 a0001c0002t0067g0053	3	214	0.0140	558	c.565 others(575): Show c.565+6323_565+6324insGACTGTGAGAAGGCTCAGGCATTGATCA GGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAG GCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAG GTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGG CTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGG TGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGC TCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGT GAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCT CAGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTG AGACTGTGAGAAGGCTCAGGCATTGATCAGGTGAGACTGTGAGAAGGCTC AGGCATTGATCAGGTGAGACTGTGAGAAGGCTCAGGCATTGATCAGGTGA GACTGTGAGAAGGCTCAGGCATTGATCAGC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	5/10			chr10	TogoVar
CDH4_chr20_61247261_61945617	61353605	T T	TGCCTTCC others(551): Show TGCCTTCCTCCCCCTCCTCCCCATCTTTCTCCCCTTCCCCCTCCCCCCTC CTCTGTCTTCCCCCTACTCCTCCCCTTCTCCCTCCCCCTTCTCCCCCTCT TCCTCCCCTTCCCCCCTCCTCTTCCCCCCTCCTCCTCCTCCCCTTCCCCC TCCCATTACCCCTTCTCCTCCTCCTCTTCCTCCCCCTCCTCCTCTTCTTC CTCCTCTTCCCTCTCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTGTTCCC CTTTTCCTCTGGAAGGCGATGAGAATACAGTATGATGATTCACCCTTCCC CTCCCCCTCCCCCTCCCTCCTCCTCCCCCTACTCTTCCTCCCCCTCCTCC TCCCTCTCCCCTCCCTCTCCTTCCCCTCCCTCCTCCTCCTCCCCCTCCCC TCCTCCTCCTCTTCCCCCTCCTCCTCTTCTTCCTCCCTTCCCCCTCCTCC TCCTCCCTCTCCTCCTCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGTGA TGAGGGTACAGTATGATGATTCACCCTCCCCCTCCCCCTCCTCCCTCCCC CTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0101 a0001c0011t0008g0101	1	106	0.0094	558	c.169 others(577): Show c.169+98668_169+98669insGCCTTCCTCCCCCTCCTCCCCATCTT TCTCCCCTTCCCCCTCCCCCCTCCTCTGTCTTCCCCCTACTCCTCCCCTT CTCCCTCCCCCTTCTCCCCCTCTTCCTCCCCTTCCCCCCTCCTCTTCCCC CCTCCTCCTCCTCCCCTTCCCCCTCCCATTACCCCTTCTCCTCCTCCTCT TCCTCCCCCTCCTCCTCTTCTTCCTCCTCTTCCCTCTCCTCCTCCTCCCC CTCCTCCCCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGCGATGAGAATA CAGTATGATGATTCACCCTTCCCCTCCCCCTCCCCCTCCCTCCTCCTCCC CCTACTCTTCCTCCCCCTCCTCCTCCCTCTCCCCTCCCTCTCCTTCCCCT CCCTCCTCCTCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCTCCTCT TCTTCCTCCCTTCCCCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCCCTGT TCCCCTTTTCCTCTGGAAGGTGATGAGGGTACAGTATGATGATTCACCCT CCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15			chr20	TogoVar
CDH8_chr16_61642250_62041438	61960240	T T	TATGTGTG others(551): Show TATGTGTGTATACACATACATATATACATATGTGTGTGTGTATACACATA CATATATACATATGTGTGTGTATGCACATACATATATACATATGTGTGTG TGTATGCACATACATATATACATATGTGTGTATACACACATATATACATA TGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATATA TACATATGTGTGTGTATACACACACACATATGTATATATGTATGTGTATA CACACACATATATGTATATATGTATGTGCATACACACACACACATGTATA TATGTATGTGTATACACATACATATATACATATGTGTGTGTATACACATA CATATATACATGTGTGTGTGTGTATGCACATACACATATACATATATGTG TGTGTATACACATACATATATACATATGTGTGTATACACACATATATACA TATGTGTGTATACACATACATATATACATATGTGTGTGTATACACACATA TATACATGTGTGTGTATACACATACATATATACATATGTGTGTATACACA CATATATAC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0029 a0001c0002t0004g0029	1	168	0.0060	558	c.253 others(577): Show c.253-58768_253-58767insGTATATATGTGTGTATACACACATAT GTATATATGTATGTGTATACACACACATGTATATATGTGTGTATACACAC ACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGTAT ACACACATATGTATATATGTATGTGTATACACACACATATATGTATATGT GTATGTGCATACACACACACACATGTATATATGTATGTGTATACACACAC ATATGTATATATGTATGTGTATACACATACATATATACATGTGTGTGTGT GTATGCACATACATATATACATATATGTGTGTGTATACACATACATATAT ACATATGTGTGTGTGTATACACACACATATGTATATATGTGTGTATACAC ACACATATGTATATATGTATGTGTATACACACATATGTATATATGTGTGT ATACACACATATGTATATATGTATGTGCATACACACACACATATGTATAT ATGTATGTGCATACACACACATATGTATATATGTATGTGTATACACACAC ACATATGTATATATGTATGTGTATACACACAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTGAGGGG others(551): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTG AGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATT GAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGCGGGGAGG TGGTCACAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0019 a0019	a0019c0038 a0019c0038	a0019c0038t0001 a0019c0038t0001	a0019c0038t0001g0113 a0019c0038t0001g0113	1	236	0.0042	558	c.351 others(577): Show c.3514-2415_3514-2414insAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG AGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACT GTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGCGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357812	C C	CTGAGGGG others(551): Show CTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACAC TGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACT GAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCACACTGAGGGGAGGTG GTCATAGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	236	0.0042	558	c.351 others(577): Show c.3514-2380_3514-2379insCTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGT CACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTC ACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGG GAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCA CAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGG GGAGGTGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTC ATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAG GGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACACTGAGGGAAGGTGGTCACACTGAGGGG AGGTGGTCATAGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(551): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTT ATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAA TATTTTATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	402	0.0025	558	c.80- others(573): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATTT TATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATTTT AATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATTAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAATATT TTATTTATTTATTTTAATATATAAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098248	A A	AATATATA others(551): Show AATATATAAACACATATGTAAATATATAAATATATATATAAATATATATA AATATATATAAATATATAAATATATAAATATATATAAATATATATAAATA TATAAATATATATATAAATATATATAAATATATAAATATATATGTAAATA TATAAATATATAAATATATATGTAAATATATAAATATATATAAATATATA TAAGTATATAAATATATATAAATATATATAAGTATATAAATATATATATA AATATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAA TATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAG TATATATAAATATATATAAATATATATAAGTATATATAAATATATATAAA TATATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAA TATATATAAATATATATAAGTATATGCAAATATATATAAATATATATATA AATAGATATATAAATAGATATAAATATATATAAATAGATATATAAATACA TATATAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0010 a0013c0023t0010	a0013c0023t0010g0011 a0013c0023t0010g0011	1	264	0.0038	558	c.181 others(577): Show c.1812+3223_1812+3224insATTTATATATGTATTTATATATCTAT TTATATATATTTATATCTATTTATATATCTATTTATATATATATTTATAT ATATTTGCATATACTTATATATATTTATATATATTTATATATACTTATAT ATATTTATATATATTTATATATACTTATATATATTTATATATATTTATAT ATACTTATATATATTTATATATATTTATATATACTTATATATATTTATAT ATATATTTATATACTTATATATATTTATATATATTTATATACTTATATAT ATTTATATATATATTTATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT TTATATATTTACATATATATTTATATATTTATATATTTACATATATATTT ATATATTTATATATATTTATATATATATTTATATATTTATATATATTTAT ATATATTTATATATTTATATATTTATATATATTTATATATATTTATATAT ATATTTATATATTTACATATGTGTTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(551): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA AGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02630.hp2 HG01975.hp1 HG02630.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0011 a0001c0016 a0002c0011	a0001c0016t0003 a0002c0011t0001 a0001c0016t0003 a0002c0011t0001	a0001c0016t0003g0029 a0002c0011t0001g0184 a0001c0016t0003g0029 a0002c0011t0001g0184	2	344	0.0058	558	c.85- others(575): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(551): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA AGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0001 a0003c0046t0001	a0003c0046t0001g0222 a0003c0046t0001g0222	1	344	0.0029	558	c.85- others(575): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCC TTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTT CCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(551): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0044 a0002c0044	a0002c0044t0001 a0002c0044t0001	a0002c0044t0001g0209 a0002c0044t0001g0209	1	344	0.0029	558	c.85- others(575): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGC CTGCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCC CTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTGCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DEAF1_chr11_639233_700222	664411	C C	CCAGCTAT others(551): Show CCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACT CTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCA CACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAG GACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACAC CGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTC AGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCT GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	345	0.0029	558	c.150 others(578): Show c.1503+9567_1503+10124dupAGCCAGGACTCAGAGTGACCGAGTG TGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAG AGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGA GCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGT GTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCT CCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTG ACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAG TGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGC CAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGT GAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCC TCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGAC GCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(551): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTAAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGTGTCACACTCG GTCACTCTA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0259 a0001c0002t0001g0259	1	345	0.0029	558	c.150 others(577): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTTA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DEAF1_chr11_639233_700222	665021	G G	GAGTCCTG others(551): Show GAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACA CTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGA CAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCG AGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAG CTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGA GTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGCGTCACACT CGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACA GGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCTATTCACACCGAG AGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGTCCTGGCTCAGCT ATTCACACCGAGAGGAGGAGGACAGGGCGTCACACTCGGTCACTCTGAGT CCTGGCTCAGCTATTCACACCGAGAGGAGGAGGACAGGGTGTCACACTCG GTCACTCTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02647.hp2 others(7): Show HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03486.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 others(7): Show a0001c0002t0001g0327 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337	10	345	0.0290	558	c.150 others(577): Show c.1503+9514_1503+9515insTAGAGTGACCGAGTGTGACACCCTGT CCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGT GTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCA GAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTG AGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGG TGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCC TCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGT GACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAGCCAGGACTCAGA GTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTGTGAATAGCTGAG CCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTCCTCCTCTCGGTG TGAATAGCTGAGCCAGGACTCAGAGTGACCGAGTGTGACGCCCTGTCCTC CTCCTCTCGGTGTGAATAGCTGAGCCAGGACT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	10/11			chr11	TogoVar
DECR2_chr16_396885_417482	397726	C C	CGGGGGGT others(551): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0041	1	367	0.0027	558	c.-42 others(569): Show c.-4238_-4237insGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4158		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875242	C C	CCACCCGC others(551): Show CCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCC CCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCGCACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCC CCACCCTCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCCCACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCAC CCCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA19057.hp1 NA19065.hp1 NA18998.hp2 NA19057.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	3	320	0.0094	558	c.39 others(569): Show c.3990_*3991insAGGGTGGGGGTGAGGGTGGGGGTGAGGGTGGGGG TGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGGTGGGGG TGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGG GGTGCGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2500		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(551): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCAC CCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0032 a0032	a0032c0060 a0032c0060	a0032c0060t0001 a0032c0060t0001	a0032c0060t0001g0111 a0032c0060t0001g0111	1	320	0.0031	558	c.39 others(569): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(551): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCAC CCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	320	0.0031	558	c.39 others(569): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CCACCCGC others(551): Show CCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCC CCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTC ACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCC GCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCC TCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCC ACCCTCACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCAC CCTCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	320	0.0031	558	c.39 others(569): Show c.3984_*3985insCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGAGGG TGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGAGG TGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTG CGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGCGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(551): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA19004.hp1 NA19081.hp1 NA18999.hp1 NA19004.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0094 a0001c0001t0001g0011 a0001c0001t0001g0094	3	320	0.0094	558	c.39 others(569): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(551): Show GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	320	0.0031	558	c.39 others(569): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGG TGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(551): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0182 a0002c0002t0001g0182	1	320	0.0031	558	c.39 others(569): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(551): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCC CCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCC ACCCGCACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCC GCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTC ACCCGCACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCAC CCGCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0023 a0023	a0023c0051 a0023c0051	a0023c0051t0001 a0023c0051t0001	a0023c0051t0001g0191 a0023c0051t0001g0191	1	320	0.0031	558	c.39 others(569): Show c.3972_*3973insGGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGG TGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTG CGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTGGGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(551): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCC GCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCAC CCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGC ACCCGCACCCCCACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCAC CCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0194 a0002c0002t0001g0194	1	320	0.0031	558	c.39 others(569): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG CGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar

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Search Results (Total: 10000 hits)