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
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(524): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	367	0.0027	531	c.-42 others(542): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGG GGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAG GGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAG GGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(524): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	367	0.0027	531	c.-42 others(542): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(524): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	367	0.0027	531	c.-42 others(542): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DOCK8_chr9_209865_470255	400952	A A	ACCACCAC others(524): Show ACCACCACCACCACCTCCTCCACCATCACCATCACCACCACCTCCACCAT CACCACCTCCTCCACCATCACCATCACCACCACCTCCACCACCACCACCT CCTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCCCCCACT ACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCTC CACCACCACCACCTCCTCCACCATCACCATCACCACCACCTCCACCATCA CCACCTCCTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCC ACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTC CTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCA TCACCATCACCACCACCTCCACCACCACCACCTCCTCCACCATCACCATC ACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCAC CATCACCACAACATCCACCACCACCATCACCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19005.hp1 NA18994.hp1 NA19005.hp1	a0017 a0017	a0017c0023 a0017c0023	a0017c0023t0005 a0017c0023t0005	a0017c0023t0005g0207 a0017c0023t0005g0208 a0017c0023t0005g0207 a0017c0023t0005g0208	2	256	0.0078	531	c.323 others(550): Show c.3234+1723_3234+1724insTCACCACCACCTCCACCATCACCACC TCCTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCCTCCAC CATCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACA GCTCCTTCACCATCACCACAACATCCACCACCACCATCACCTCCACCACC ACCACCTCCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTC CTCCACCATCACCATCACCACCACCTCCACCACCACCACCTCCACCATCA CCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCACC ATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACCAT CACCACCACCTCCACCACCACCACCTCCTCCACCATCACCATCACCACCA CCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACC ACAACATCCACCACCACCATCACCTCCACCACCACCACCTCCTCCACCAT CACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716260	T T	TGGGGGAG others(524): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGT GGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	170	0.0059	531	c.86- others(544): Show c.86-350_86-349insTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGT GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(524): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCACATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATATCATATATCATATATATCATATATATCAT ATATCATATATATCATATATCATATATCATATATATCATATATATCATAT ATCATATATATCATATATATCATATATCATATATATCATATATCATATAT ATTATATATCATATATATCATATATATTATATATCATATATCATATATAT CATATATATTATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0028 a0001c0009t0006g0028	1	236	0.0042	531	c.-22 others(542): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATAATATATATGATATATATGATATATAATAT ATATGATATATGATATATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATGATATATGATATATATGATATAT GATATATATGATATATATGATATATGATATATATGATATATATGATATAT ATGATATATATGATATATATGATATATATGATATATATGATATATATGAT ATATGATATATATAATATATGATATATATGATATATGTGATATATGATAT ATATGATATATGTGATATATGTGATATATGATATATGTGATATATGTGAT ATATGATATATGTGATATATGTGATATATGATATATGTGATATGTGATAA TGATATGATATATATGATATGATATATATGATAGATCATATATGATCTCA TATATATGATATATATGATATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATATG others(524): Show TATATATGAATATATAAATATATATAAATATATAAATATATAAATAAAAA TATATAAAAATATATACATATATAAATATAAATATATAATATATAAATAT ATAAATATATAAATATATAAATATAAATATATAAAAATATATAAATATAT AAAAATATATAAATATATAAATATATATAAATATATATAAATATATAAAT ATATAAATATATATAAATATATAAATATATAAATATATAAAAATATATAA ATACATAAATATATAAATATATAAATATATAAATATATAAATATATATAA GTACATATAAATATATATACATAAATATATAAATATATAAATATATAAAT ATATAAATATATAAATACATAATATATATAAATATAAAATATATATAATA TATAAAATATATTAAAAATATAAAAATATATATAAAAAATATATAAATAT ATAAAAATATATAAAAAATATATACACATATAAATATATATAAAAATATA TAAATATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	344	0.0029	531	c.617 others(548): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATA TTTATATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTT TTATATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTT TATATATTATATATATTTTATATTTATATATATTATGTATTTATATATTT ATATATTTATATATTTATATATTTATATATTTATGTATATATATTTATAT GTACTTATATATATTTATATATTTATATATTTATATATTTATATATTTAT GTATTTATATATTTTTATATATTTATATATTTATATATTTATATATATTT ATATATTTATATATTTATATATATTTATATATATTTATATATTTATATAT TTTTATATATTTATATATTTTTATATATTTATATTTATATATTTATATAT TTATATATTTATATATTATATATTTATATTTATATATGTATATATTTTTA TATATTTTTATTTATATATTTATATATTTATATATATTTATATATTCATA TAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(524): Show AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCAATACCACCCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCA ACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCAT CCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCC CCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAA CACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACC ACCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAAC ACCACCACCAACACCACCCAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0006 a0001c0001t0018g0006	1	106	0.0094	531	c.27 others(542): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCAATACCACCCCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCA CCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCC CCAACACCATCCCCAACACCACCCCCAACACCACCCCCACACTGCCCCCA CACCAGCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACAC CACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACACCA TCCCCAACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAGCCC CAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAAC ACCACCCCCAACACCACCCAACACCACCCCCAACACCATCCCCAACACCC CAATAACCCCCCAACACCACCACCAACACCACCCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(524): Show CCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACA CCATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCC CCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACC ACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCA ACACCACCACAACACCATCCCCAACACCACCCCCAACACCACCCCCACAC TGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCAC CCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCATGCCCCA CACCACCCCCAACACCACCCCCAACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02965.hp2 others(1): Show HG02451.hp2 HG02717.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0007 a0001c0001t0007g0007	4	106	0.0377	531	c.28 others(542): Show c.2827_*2828insCCAACACCACCCCAACACCACCCCCAACACCATC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAA CACCACCCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCC CCAACACCACCACCAACACCACCACAACACCATCCCCAACACCACCCCCA ACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCAACAC CAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACACCACC CAACACCATGCCCCACACCACCCCCAACACCACCCCCAACACCACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1176		chr8	TogoVar
ICA1_chr7_8108184_8267167	8152654	C C	CACCACCA others(524): Show CACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTA CCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCC TTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCAC CACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCT CTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCGCCACCACC ATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTC CACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCC CCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTC ATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCACCAC CACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCACCTCTT CCACCACTACCACCATCTCCTCCACCACCACT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	274	0.0037	531	c.804 others(548): Show c.804+4461_804+4462insAGTGGTGGTGGAGGAGATGGTGGTAGTG GTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGG TGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTG GTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGAT GGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGA TAATGGTGGTGGCGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTG GAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGTTGAAGGAGATGGT GGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGA TGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATG GTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGT GGT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152672	T T	TATCTCCT others(524): Show TATCTCCTTCACCACCACTACCCCCACCACTACCACCATCACCTCCTCCA CCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCC ACCACTATCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCAC CACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCA CCTCCTCCACCACCACCACCACCACCACAATTATCTCCTTCATCACCACT ACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATCTC CTTCATCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTA CCACCATCTCCTCCACCACCACCACCACCACCACAATTATCTCCTTCATC ACCACTACCCCCACCACTACCACCATCACCTCCTCCGCCACCATCACCAT CACCTCCACAACCACCACCATTATCTCCTTCATCACCACTACCCCCACCA CTACCACCATCACCTCTTCCACCACTACCACC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	274	0.0037	531	c.804 others(548): Show c.804+4443_804+4444insGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTTGTGGA GGTGATGGTGATGGTGGCGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAG TGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGGTGGAGGAGATG GTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGAT GAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGTAGTGGTGG GGGTAGTGGTGATGAAGGAGATAATTGTGGTGGTGGTGGTGGTGGTGGAG GAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGT GGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGATAG TGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTG ATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGA GAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
ICA1_chr7_8108184_8267167	8152704	C C	CCACCATC others(524): Show CCACCATCACCTCCTCCACCATCACCACCACCACCATCTCCTTCAACACC ACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTC CTCCACCACCACCACCACCACCACCATTATCTCCTTCATCACCACTACCC CCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACC ACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCAC CTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCACCACTATCA CCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCACTACC CCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCAC CACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTACCCCCA CCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACC ATCTCCTTCATCACCACTACCCCCACCACTAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	274	0.0037	531	c.804 others(548): Show c.804+4411_804+4412insATAGTGGTGGGGGTAGTGGTGATGAAGG AGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTA GTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGT GGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGC TGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTG ATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGT GGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGA TGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTG GTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGG TAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGATGGTGGAGGAGGTGATG GTG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(524): Show CTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCGCTCCCCCCTCCCCCTCT CTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCTCC CCCCTCTCTCTCCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCC CCTCTCCCCTCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCCCCCTCCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCC CCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCCCCCATCCC CCTCCCCCTCCCCTATCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCATCC CCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCC CTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCT TCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0015 a0002c0029t0015	a0002c0029t0015g0053 a0002c0029t0015g0053	1	158	0.0063	531	c.11 others(552): Show c.1103+4103_*1103+4104insTCCCCCTCCCCTCCCCCTCTCGCT CCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCTCTCTCCCCCTCCCCC CTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCCTCCCCCTCCCCCCTCTCC CCTCCCCCTCCCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCTCCCC CTCTCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCT CCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCCCTC CCCCTCCCCCATCCCCCTCCCCCTCCCCTATCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCT TCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCT CTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240812899	G G	GGGATCCG others(524): Show GGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTT CACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCAAGGAT CCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCTTCACCT CGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAGGGATCT GCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTCACCTCTG GGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGCCTTCAC CTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGGATCCGC CTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGG GATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCA CCTCAAGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATCC GCCTTCACCTCGGGGATCAGCCTTCACCTCAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0009 a0001c0017t0009	a0001c0017t0009g0165 a0001c0017t0009g0165	1	330	0.0030	531	c.-61 others(548): Show c.-61+7222_-61+7223insTTGAGGTGAAGGCTGATCCCCGAGGTGA AGGCGGATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCTT GAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCG GATCCCCGAGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGT GAAGGCGGATCCCCGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCC CGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCG GACCCAGAGGTGAAGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGA AGGCAGATCCCTGAGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGAT CTCGAGGTGAAGGCTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAG GCGGATCCTTGAGGTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGA GGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGA TCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(524): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCC CTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0015 a0015	a0015c0011 a0015c0011	a0015c0011t0005 a0015c0011t0005	a0015c0011t0005g0049 a0015c0011t0005g0049	1	370	0.0027	531	c.-27 others(542): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349799	C C	CGATGATG others(524): Show CGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGA CGGTGGGGGTGGGGGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGG GTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGGGGGTGAT GACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTG GGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGATGGTGG GGGTGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGATGATGGTGATGGTG GGGGTGATGATGGTGAGGGTGATGATGGTGGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0046 a0046	a0046c0105 a0046c0105	a0046c0105t0001 a0046c0105t0001	a0046c0105t0001g0140 a0046c0105t0001g0140	1	186	0.0054	531	c.956 others(548): Show c.956+1904_956+1905insCCCACCATCATCACCCTCACCATCATCA CCCCCACCATCACCATCATCACCCCCACCCCCACCCCCACCCCCACCATC ACCCCCACCATCATCACCCCCACCATCACCGTCATCACCCCCACCCCCAC CGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCA CCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACC CCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCGCCATCAC CGTCATCACCCCCACCATCATCACCCCCACCCCCACCCCCACCCCCACCA TCACCCCCACCATCATCACCTCTACCATCACCGTCATCACCCCCACCCCC ACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCAT CACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCA CCCCCACCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATC ATC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LRRC24_chr8_144517388_144532033	144532017	G G	GGAGCAGC others(524): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0042 a0005c0008t0001g0042	1	398	0.0025	531	c.-51 others(542): Show c.-5118_-5117insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGC TCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCC ACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCT ATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4985		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364602	C C	CCACACTT others(524): Show CCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCAC CCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTCACACCC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTTACACCCACCCTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACTCAC ACCCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTCACACCCACCCACACTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0007 a0003c0008t0007	a0003c0008t0007g0083 a0003c0008t0007g0083	1	290	0.0035	531	c.129 others(548): Show c.1290-822_1290-821insCACACTTACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACA CCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACC TCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATC TACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACGCCCACACTCACACCCACCCACA CTCACACCCACCCACACTCACACCCACCCACACTTACACCCACCCACACT TACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTCACACCCACCCACACTCACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACGCCCACACTCACACCCACCCACACTCACACCCACCCACA CTT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MAPK11_chr22_50258713_50275380	50274865	C C	CTCCCAAC others(524): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCC TCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACC CCTCCCAGCCCCCTCCACCTCCCCCAGTACCCCTCCCAGCCCCTTCCACC TCCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCT CCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCT TCCCAGCCCCCTCCACCTCCCCACAGCTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp2 HG02818.hp2 others(4): Show HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0012 a0001c0001t0005g0071 a0001c0002t0001g0095 a0001c0001t0005g0012 a0001c0001t0005g0071 a0001c0002t0001g0095	7	428	0.0164	531	c.-45 others(542): Show c.-4574_-4573insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAG GGTGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAG GGGGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCT GGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGG TGGAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGG TGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGG GGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTG GGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGC TGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGG GAGGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGA	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding		4486		chr22	TogoVar
MBP_chr18_76973833_77137783	77118010	T T	TGGGATGG others(524): Show TGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGAT GGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGG ACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGTGGGACGGGGAC AGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGACA GTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGT GGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGG GTTGGGGCGGGATGGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGG TTGGGGCGGGATGGGGGACAGTGGGTTGGGGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0093 a0001c0002t0030g0093	1	396	0.0025	531	c.-25 others(550): Show c.-25-12725_-25-12724insGCCCCAACCCACTGTCCCCCATCCCG CCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCCATCCCGC CCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCC CAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCA ACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAA CCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCGCCCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCACCCCAACCCACT GTCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGT CCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGTCC CCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCC ATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(524): Show GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATG GAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGT TACGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA AGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02602.hp1 HG00140.hp1 HG02602.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0012 a0001c0002 a0002c0012	a0001c0002t0004 a0002c0012t0001 a0001c0002t0004 a0002c0012t0001	a0001c0002t0004g0258 a0002c0012t0001g0150 a0001c0002t0004g0258 a0002c0012t0001g0150	2	274	0.0073	531	c.224 others(550): Show c.2242-4879_2242-4878insATAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCT AACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(524): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAG TCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	356	0.0028	531	c.91+ others(544): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG GTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(524): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	356	0.0028	531	c.91+ others(544): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(524): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	356	0.0028	531	c.91+ others(544): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(524): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGAGGAGAGGGACAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGA GGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGA GGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGGAGGGAG GGGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGG GAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGA GAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGA TGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAG GAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGG GAAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0125 a0001c0003t0010g0125	1	386	0.0026	531	c.92 others(542): Show c.9222_*9223insTCCCTCTCTCCCTCTCTCTCTCACTCCCTTTCCC TCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCT TCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATC CCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTC CCTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCC TCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCCCCCCT CCCTCCCCTCCCGCCCCCTCCCTCTCTCTCCCCCCTCTCCCCCTCCCCTC CCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTC TCCCTGTCCCTCTCCCTCTCCCTCTCCCTCCCTCTCTCTCCCTCTCCCTG TCCCTGTCCCTCTCCTCCCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCC CCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NXN_chr17_794310_984776	948826	G G	GGCCTCCT others(524): Show GGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCCTGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGC CTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTC CTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCC TCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	242	0.0041	531	c.360 others(550): Show c.360+30492_360+30493insAGGGGGGAGAGGAGGAGGCAGGGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAG GCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGG GGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGA GGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGG GGGGAGAGGAGGAGGCAGGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAG GAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(524): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGACATGGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00544.hp1 others(78): Show HG00280.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp1 HG02273.hp2 HG02647.hp1 HG02683.hp2 HG02895.hp2 HG02897.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18951.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18967.hp2 NA18970.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0006 a0003c0005 others(1): Show a0001c0001 a0002c0006 a0003c0005 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0002c0006t0001 a0003c0005t0001 a0004c0007t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(78): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0289 a0001c0001t0002g0034 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0024g0236 a0002c0006t0001g0174 a0003c0005t0001g0177 a0004c0007t0001g0137	81	292	0.2774	531	c.165 others(546): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACC AGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATT G	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(524): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGTGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGACATGGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	292	0.0034	531	c.165 others(546): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACC AGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGTG GACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATT G	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(524): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACCAGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGTGGCCGC GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGACATGGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	292	0.0034	531	c.165 others(546): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACC AGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGTGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATT G	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(524): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACCAGAGATGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGACATGGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0180 a0001c0001t0013g0180	1	292	0.0034	531	c.165 others(546): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACC AGAGATGCACTGCCTGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATT G	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45896653	G G	GGAGATGC others(524): Show GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCAGACATGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GCCGCGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATT GTCTCTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCC CGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGA TGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAG AACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGC GGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAA GGCGGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTC TGTAGGAAAGGCGGACATGGCACATAGAACCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01168.hp2 others(5): Show HG01069.hp2 HG01071.hp1 HG01168.hp2 HG01175.hp2 HG01258.hp1 HG01934.hp2 HG02602.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0151 a0001c0001t0001g0168 a0001c0001t0002g0057 others(5): Show a0001c0001t0001g0151 a0001c0001t0001g0168 a0001c0001t0002g0057 a0001c0002t0001g0142 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0150 a0001c0002t0001g0152	8	292	0.0274	531	c.165 others(546): Show c.165+314_165+315insTCTCTGTAGGAAAGGCAGACATGGCACATA GAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCG CGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAA AGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCT CTGTAGGAAAGGCAGACATGGCACATAGAACCGGAGATGCACTGCCCGGG CCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACCGGAGATGCA CTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCACATAGAACC GGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCGGCCGCGGCA CATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTAGGAAAGGCG GACATGGCACATAGAACCGGAGATGCACTGCCCGGGCCATTGTCTCTGTA GGAAAGGCGGACATGGCACATAGAACCAGAGATGCACTGCCCGGGCCATT G	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3085316	T T	TCCAGCAC others(524): Show TCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTC TCCAGCACAGTCCCCCAAACCCTCCCCAGCACAGTCCCCCAACCCCTCCC CAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCTCCCCA GCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCCCAGCA CAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCAGCACA GTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGT CCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCC CCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCC CACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCCC CAAACCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCCCCA CCCCCTCCCCAGCACAGTCCCCCACCCCCTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0384 a0001c0001t0003g0384	1	402	0.0025	531	c.186 others(548): Show c.186+2921_186+2922insAACCCTCCCCAGCACAGTCCCCCAACCC CTCCCCAGCACAGTCCCCCAACCCCTCCCCAGCACAGTCCCCCAACCCCT CCCCAGCAGTCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCCTCCC CAGCACAGTCCCCCACTCCCTCCCCAGCACAGTCCCCCACTCCCTCCCCA GCACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGC ACAGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCAC AGTCCCCCACCCCTTCCCCAGCACAGTCCCCCACCCCTTCCCCAGCACAG TCCCCCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAG TCCCCCAAACCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTC CCCCACCCCCTCCCCAGCACAGTCCCCCACCCCCTCCCCAGCACAGTCCC CCACTCCACTCTCCAGCACAGTCCCCCACTCCACTCTCCAGCACAGTCCC CCA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLEKHN1_chr1_961482_980865	977572	C C	CAACCCCG others(524): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGG AACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	531	c.29 others(542): Show c.2997_*2998insAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCGCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1708		chr1	TogoVar
PLXNB2_chr22_50269979_50312646	50274865	C C	CTCCCAAC others(524): Show CTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAACCCCCCACCTCCC CCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGC CCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCC TCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACC CCTCCCAGCCCCCTCCACCTCCCCCAGTACCCCTCCCAGCCCCTTCCACC TCCCCCAGCACCCCTCCCAACCCCCCACCTCCCCCCAGCACCCCTCCCAG CCCCCTCCACCTCCCCCCAGCACCCCTCCCAGCCCCCTCCACCTCCCCCA GCACCCCTCCCAGCCCCCTCCACCTCCCCCAGCACCACCCCCAGCCCCCT CCACCTCCCCCAGCATCCCTCCCAGCCCCCTCCACCTTTCCCAGCACCCT TCCCAGCCCCCTCCACCTCCCCACAGCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp1 HG03540.hp1 others(1): Show HG02818.hp2 HG02886.hp1 HG03540.hp1 NA18522.hp2	a0002 a0008 a0002 a0008	a0002c0071 a0008c0035 a0008c0036 a0002c0071 a0008c0035 a0008c0036	a0002c0071t0003 a0008c0035t0003 a0008c0036t0003 a0002c0071t0003 a0008c0035t0003 a0008c0036t0003	a0002c0071t0003g0093 a0008c0035t0003g0092 a0008c0035t0003g0094 others(1): Show a0002c0071t0003g0093 a0008c0035t0003g0092 a0008c0035t0003g0094 a0008c0036t0003g0054	4	302	0.0133	531	c.83 others(540): Show c.838_*839insTGGGAGCTGTGGGGAGGTGGAGGGGGCTGGGAAGGG TGCTGGGAAAGGTGGAGGGGGCTGGGAGGGATGCTGGGGGAGGTGGAGGG GGCTGGGGGTGGTGCTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGG GAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGAGGGGTGCTGGGGGAGGTG GAAGGGGCTGGGAGGGGTACTGGGGGAGGTGGAGGGGGCTGGGAGGGGTG CTGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGG GCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGG GGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTG GGAGGGGTGCTGGGGGGAGGTGGAGGGGGCTGGGAGGGGTGCTGGGGGGA GGTGGGGGGTTGGGAGGGGTGCTGGGGGGAGGTGGGGGGTTGGGA	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		113		chr22	TogoVar
RAP1GAP2_chr17_2791438_3042741	2831059	C C	CTCCCCTC others(524): Show CTCCCCTCCCCTTCCCTCCTTTCCTCCCCTCCTTCCCCTCCCCTTCCCTC CCTTCCCCTCCCCCTCCCTTCCCCTCCCCTCCTCTCCCCTCCCCTCCCCC CTCCCCTTCCTTCCCCCTCCCCTCCTCCCCCCTCCCTCCCCTCTCCTTCC TTCCCCTCCCCTCCCCCTTCCCTCCCTTTCCCTCCCCCTCCCCTTCCCCT CCCCTCCCCTTCCCTCCTTCCCCTCCCCTCCTCTCCCCTCCCTCCCCTCC CCTTTTCTCCTTCCCCTCCCATCCCCTACACTTCCCTCCCCTCCCCTTCC CTACACTTCCGTCCCCTCCCCTTCCCTACACTTCCCTTCCCTCCCCTCCC CTCCCCTTTCCCCTCCTCTTCCCTCCCTCCCCTCCCTTCCCGTTCCCCTT CCCTCCCCTTCCCCTCCCCCACCCTCCCTTCCCCTCCCTTCTTCTCTCCC CCTCCCCCTCCCCCTTCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCT TTCCCTCCCCTCCCCCCTCCCCTCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0107 a0002c0003t0107	a0002c0003t0107g0068 a0002c0003t0107g0068	1	218	0.0046	531	c.80+ others(548): Show c.80+30515_80+30516insCCCCTTCCCTCCTTTCCTCCCCTCCTTC CCCTCCCCTTCCCTCCCTTCCCCTCCCCCTCCCTTCCCCTCCCCTCCTCT CCCCTCCCCTCCCCCCTCCCCTTCCTTCCCCCTCCCCTCCTCCCCCCTCC CTCCCCTCTCCTTCCTTCCCCTCCCCTCCCCCTTCCCTCCCTTTCCCTCC CCCTCCCCTTCCCCTCCCCTCCCCTTCCCTCCTTCCCCTCCCCTCCTCTC CCCTCCCTCCCCTCCCCTTTTCTCCTTCCCCTCCCATCCCCTACACTTCC CTCCCCTCCCCTTCCCTACACTTCCGTCCCCTCCCCTTCCCTACACTTCC CTTCCCTCCCCTCCCCTCCCCTTTCCCCTCCTCTTCCCTCCCTCCCCTCC CTTCCCGTTCCCCTTCCCTCCCCTTCCCCTCCCCCACCCTCCCTTCCCCT CCCTTCTTCTCTCCCCCTCCCCCTCCCCCTTCCCTCCCTTCCCCTCCCCC TCCCCTCCCCTCCCTTTCCCTCCCCTCCCCCCTCCCCTCCCTTCCCATCC CCT	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RGS12_chr4_3288021_3444913	3309222	G G	GGAGGAGC others(524): Show GGAGGAGCTGGGACCCGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGC AGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAGGGGAACCG TGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAGGGGAA CCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGA GAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGCTGA GGGGAACCGTGTTGAGGAGGAGCTGGGACTCGGGAATGGCAGGTGTCTGC TGAGGAGAACCGGGTGGGAGAGGAGCTGGGATCCGGGAATGGCAGGTGTC CGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCTGGAATGGCAGGT GTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCAGGAATGGCA GGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCTGGAAAT GGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0138 a0004c0008t0001g0138	1	312	0.0032	531	c.-10 others(550): Show c.-101-6835_-101-6834insCCGGGAATGGCAGGTGTCCTCTGAGG AGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTG AGGGGAACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCG CTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGT CCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGG TGTCTGCTGAGGGGAACCGTGTTGAGGAGGAGCTGGGACTCGGGAATGGC AGGTGTCTGCTGAGGAGAACCGGGTGGGAGAGGAGCTGGGATCCGGGAAT GGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCCTGG AATGGCAGGTGTCCGCTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCC AGGAATGGCAGGTGTCCGCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGA CCCTGGAAATGGCAGGTGTCCTCTGAGGAGAGCTGAGCAGGAGAGGAGCT GGGAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RIPOR2_chr6_24799284_24940960	24927248	C C	CCACCATC others(524): Show CCACCATCACCATCACTACCACCAGCACCACTACAACTACAATCACCACC ACCACCATCACTACCACCAGCACCACTACAACTACAATCACCACCATCAC CATCACTACCACCAGCACCACTACAACTACAATCACCATCACCACCACCA CCACAACTACAATCACCACCACCACCACTACAACTACAGTTACCACCACC ATCACCACCACCACCACCACAACTACAATCACCACCACCACCACTACCAC CAGCACCACCACAACTACAATCACCACCACCATCACCACCACCACAACTA CAATCACCACCACCACCATCACTACCACCAGCACCACTACAACTACAATC ACCACCATCACCATCACTACCACCAGCACCACTACAACTACAATCACCAT CACCACCACCACCACAACTACAATCACCACCACCACCACTACAACTACAG TTACCACCACCATCACCACCACCACCACCACAACTACAATCACCACCACC ACCACTACCACCAGCACCACCACAACTACAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp1 HG00738.hp2 HG00741.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0005 a0001c0003t0002 a0002c0002t0005	a0001c0003t0002g0018 a0002c0002t0005g0017 a0001c0003t0002g0018 a0002c0002t0005g0017	2	328	0.0061	531	c.61+ others(546): Show c.61+8589_61+8590insATTGTAGTTGTGGTGGTGCTGGTGGTAGTG GTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTGATGGTGGTGGT AACTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGG TGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGATGGTG GTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGGTGGTGGTGAT TGTAGTTGTGGTGGTGGTGATGGTGGTGGTGATTGTAGTTGTGGTGGTGC TGGTGGTAGTGGTGGTGGTGGTGATTGTAGTTGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAACTGTAGTTGTAGTGGTGGTGGTGGTGATTGTAGTTGT GGTGGTGGTGGTGATGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGA TGGTGATGGTGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTG GTGGTGGTGATTGTAGTTGTAGTGGTGCTGGTGGTAGTGATGGTGATGGT G	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(524): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTT AGTTTATAAATACATATTTACATATTTAGTTTATAAATATATATTTATTT AGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTACAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGAT AAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATT TAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	308	0.0033	531	c.-75 others(550): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAATATATA TTTATCTATAAACTAAATATATAAATATATATTTATCTATAAATTAAATA TATAAATATATTTATCTATAAATTAAATATATAAATATATATTTATCTAT AAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATGTATTTATAAACTAAATATATAAATATGTATTTATAAA CTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATGTATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATATATTTA TAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATA TTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77485015	G G	GTGATTGT others(524): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGA TGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATG GTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGT GATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGAT GGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	150	0.0067	531	c.914 others(548): Show c.914-2368_914-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGT GATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGA TTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGG TGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATT GTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485015	G G	GTGATTGT others(524): Show GTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAA GGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTG TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGA TGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATG GTGGTGATGGTGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGT GATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGAT GGTGATTGTGGTGGTAGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	158	0.0063	531	c.860 others(548): Show c.860-2368_860-2367insATGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATG GTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAA GGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGA TTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTG GTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGT GATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGA TTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGG TGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATT GTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431778	T T	TAGGGTGG others(524): Show TAGGGTGGTTAGGGTGGTTAGGATGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0313 a0002c0002t0001g0313	1	376	0.0027	531	c.101 others(550): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGATGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431822	A A	ATAGGGTG others(524): Show ATAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGTTAGGGTGGTTAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGCGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0126 a0002c0008t0001g0126	1	376	0.0027	531	c.101 others(550): Show c.1014-1136_1014-1135insCAGGGTGGAGAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGTTAGGGTGGT TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGT GGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGCGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431931	T T	TAGGGTGG others(524): Show TAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	376	0.0027	531	c.101 others(550): Show c.1014-1029_1014-1028insACAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAG GGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432012	T T	TAGGGTGG others(524): Show TAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGACAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGG TGGACAGGGTGGATAGGGTGGAGAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0212 a0002c0002t0006g0212	1	376	0.0027	531	c.101 others(548): Show c.1014-947_1014-946insTAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGG GTGGACAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGA TAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGATGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGACAGGGT GGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432066	C C	CAGGGTGG others(524): Show CAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGACAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0085 a0001c0010t0002g0085	1	376	0.0027	531	c.101 others(548): Show c.1014-893_1014-892insGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGTTAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGT GGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(524): Show GTATTATATATTATATAATATATAATATATAATGTATTATATATTATATA ATATATAATATATAATGTATTATATATTATATAATATATAATATATAATG TATTATATATTATATAATATATAATATATAATGTATTATATATTATATAA TATATAATGTATTATATATTATATATTATATAATATATAATGTATTATAT ATTATATATTATATAATATATAATGTATTATATATTATATAATATATAAT ATAATGTATTATATATTATATAATATATAATATATAATGTATTATTATAT AATATATAATATATAGTGTATTATTATATAATATATAATGTATTATATAT TATATAATATATAATATATAATATATAATGTATTATATATTATATAATAT ATAATATATAATGTATTATATATTATATAATATATAATATATAATGTATT ATATATTATATAATATATAATATATAATGTATTATATATTATATAATATA TAATATATAATGTATTATATATTATATAATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	290	0.0035	531	c.234 others(548): Show c.234-7088_234-7087insATATTATATAATATATAATACATTATAT ATTATATATTATATAATATATAATACATTATATATTATATATTATATAAT ATATAATACATTATATATTATATATTATATAATATATAATACATTATATA TTATATATTATATAATATATAATACATTATATATTATATATTATATATTA TATAATATATAATACATTATATATTATATAATAATACACTATATATTATA TATTATATAATAATACATTATATATTATATATTATATAATATATAATACA TTATATTATATATTATATAATATATAATACATTATATATTATATAATATA TAATATATAATACATTATATATTATATAATATATAATATATAATACATTA TATATTATATAATATATAATACATTATATATTATATATTATATAATATAT AATACATTATATATTATATATTATATAATATATAATACATTATATATTAT ATATTATATAATATATAATACATTATATATTATATATTATATAATATATA ATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AAATATAA others(524): Show AAATATAAATATATTATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAATATAAATATATTATATATATTATATATAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAAATATAAATATATTATATATATTATATATAAATATAAATATAT TATATATATTATATATAAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATATT ATATATAATATAAATATATTATATATATTATATATAATATAAATATATTT ATATATTATATATAATATAAATATATTTATATATTATATATAAATATAAA TATATTATATATATTATATATAAAATATAAATATATTATATATATTATAT ATAAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	346	0.0029	531	c.-70 others(548): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TTATATATAATATATATAATATATTTATATTTTATATATAATATATATAA TATATTTATATTTATATATAATATATAAATATATTTATATTATATATAAT ATATAAATATATTTATATTATATATAATATATATAATATATTTATATTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTTATATATAATATATATAATATATTTATATTTATATATAATATA TATAATATATTTATATTTATATATAATATATATAATATATTTATATTTAT ATATAATATATATAATATATTTATATTTATATATAATATATATAATATAT TTATATTATATATAATATATATAATATATTTATATTATATATAATATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTTATAT ATAATATATATAATATATTTATATTTATATATAATATATAATATATTTAT ATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(524): Show AAATATAAATATATTATATATATTATATATAAATATAAATATATTATATA TATTATATATAAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATATAATATAAATATATTATATATATTATATATAA ATATAAATATATTATATATATTATATATAAATATAAATATATTATATATA TTATATATAAATATAAATATATTATATATATTATATATAAATATAAATAT ATTATATATATTATATATAAATATAAATATATTATATATATTATATATAA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATTT ATATATAATATAAATATATTTATATATTATATATAATATAAATATATTTA TATATTATATATAAATATAAATATATTATATATATTATATATAAAATATA AATATATTATATATATTATATATAAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	346	0.0029	531	c.-70 others(548): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTTATATATAATATATATAATA TATTTATATTTTATATATAATATATATAATATATTTATATTTATATATAA TATATAAATATATTTATATTATATATAATATATAAATATATTTATATTAT ATATAAATATATAATATATTTATATTATATATAATATATATAATATATTT ATATTTATATATAATATATATAATATATTTATATTTATATATAATATATA TAATATATTTATATTTATATATAATATATATAATATATTTATATTTATAT ATAATATATATAATATATTTATATTTATATATAATATATATAATATATTT ATATTTATATATAATATATATAATATATTTATATTATATATAATATATAT AATATATTTATATTATATATAATATATATAATATATTTATATTTATATAT AATATATATAATATATTTATATTTATATATAATATATATAATATATTTAT ATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMOC2_chr6_168436184_168672992	168596206	C C	CATGAACA others(524): Show CATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAAGCGCCACGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGA ACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGA GAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGT GCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGT TTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCA GTGATGAGTTTCCTGGGTGCTGCTGGAGAGGA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	180	0.0056	531	c.638 others(548): Show c.638-2605_638-2604insGGTGCCATGTGAACACGGCAGTGATGAG TTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGC AGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGT GAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGCATGAACAA GCGCCACGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGG AATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTG CTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGATGAGTTTCC TGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACACGGCAGTGA TGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCCATGTGAACA CGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGAACAGGTGCC ATGTGAACACGGCAGTGATGAGTTTCCTGGGTGCTGCTGGAGAGGAATGA ACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPADH_chr10_122667850_122684494	122681452	T T	TCTCATGT others(524): Show TCTCATGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAA CCATGGTTTCCTCGTGTGTGAACGGGAGATAGAAACATCAGACCTTTTAC CTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACATCAG ACCTTTTACCTCTGTCAACCATGGTTTTCTCATGTGTGAACTGGAGATAG AAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAAC TGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCG TGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATG GTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTG TCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTT TTACCTCTGTCAACCATGGTTTCCTCACGTGTGAACTGGAGATAGAAACA TCAGACCTTTTACCTCTGTCAACCATGGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0029	1	414	0.0024	531	c.24 others(542): Show c.2404_*2405insCTCATGTGTGAACTGGAGATAGAAACATCAGACC TTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACGGGAGATAGAAA CATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCGTGTGTGAACTGG AGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTTCTCATGT GTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTT TTCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTACCTCTGTCA ACCATGGTTTCCTCGTGTGTGAACTGGAGATAGAAACATCAGACCTTTTA CCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATAGAAACATCA GACCTTTTACCTCTGTCAACCATGGTTTTCTCGTGTGTGAACTGGAGATA GAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTCCTCACGTGTGAA CTGGAGATAGAAACATCAGACCTTTTACCTCTGTCAACCATGGTTTC	SPADH	ENSG00000286135.1	transcript	ENST00000652090.1	protein_coding		1959		chr10	TogoVar

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Search Results (Total: 10000 hits)