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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EVC_chr4_5706201_5819305	5706337	G G	GATAGATA others(1133): Show GATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGATAGA TAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGA TACATACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATACATAGATAGATACATACATACATAGATAGATACA TAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATACATAGATAGATACATAGATAGATAGATAGATACATACA TACATAGATAGATAGATAGATACATAGATAGATAGATACATACATACATA CATACATACATAGATAGATACATACATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGA TAGATAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGATA GATACATAGATAAATAGATAGAAACATAGATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATACATAAATAGATAGATAGATAGATAGA TACATAGATACATAGATACATAGATAGATAGATACATACATACATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGATACA TAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATACATAGATAGAGAGATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0049 a0001c0002t0003g0049	1	369	0.0027	1140	c.-50 others(1151): Show c.-5044_-5043insATAGATAGATAGATAGATAGATAGATACATAGAT ACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGAT ACATAGATAGATAGATACATACATAGATAGATACATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATACAT ACATAGATAGATACATAGACAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGAT AGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATACATACATAGATAGATACATAGATAGAT AGATAGATACATACATACATAGATAGATAGATAGATACATAGATAGATAG ATACATACATACATACATACATACATAGATAGATACATACATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATAGATACATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGAT ACATAGATAGATAGATAGATAGATACATAGATAGATAGATAAATACATAG ATAGATAGATAGATAGATACATAGATAAATAGATAGAAACATAGATAGAT AGATAGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAG ATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAAATAGAT AGATAGATAGATAGATACATAGATACATAGATACATAGATAGATAGATAC ATACATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT AGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATACATAGATAGAGAGATAGATAGAT AGATAC		EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding					4863		chr4	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(1133): Show GGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTG GAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAAGCT GGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGA GGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTG GCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGG GTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGG CTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGA GGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTG GCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGT GGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGG CTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGT GAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTG GGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGC TGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGAGG GGAGGCTGGCGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGCTGGC GGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGCG GTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0379 a0001c0002t0018g0379	1	418	0.0024	1140	c.119 others(1159): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCAGCCTCCACC CACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCG CTGCCGCCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCACCA GCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCCC ACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCC TCCACCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACA CCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAG CCTCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCA CCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGC CTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCCACCAGC CTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCC CACCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGC CTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCC AGCCTCCCCCACCCCAGCTTCCACCCACACCGCTGCTGCCACCAGCCTCC CCTCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACC CCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCC CCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCTCTCACCCCA GCCTCCACCCACAC		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1						chr12	TogoVar
GALR1_chr18_77244848_77282900	77252905	C C	CCACCACC others(1133): Show CCACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCATCACCACCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCATCACCAT CACCACCACCACCACCACCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCATCACCACCATCACCACCACCATCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCCCCATCACCACCACCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCATCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ATCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0296 a0001c0001t0005g0296	1	366	0.0027	1140	c.666 others(1157): Show c.666+1708_666+1709insCCATCACCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCATCA CCATCACCACCACCACCACCACCACCACCACCATCACCATCACCACCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCATCACCACCATCACCACCACCATCACCACCACCATCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCCCCATCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCA CCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCAC CACCATCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252911	C C	CCACCACC others(1133): Show CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCAT CACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCATCACCACCATCACCACCACCATCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCATCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0284 a0001c0001t0039g0284	1	366	0.0027	1140	c.666 others(1157): Show c.666+1708_666+1709insCCATCACCACCACCACCACCACCACCAT CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCATCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCATCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCATCACCACCATCACCACCACCATCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCA TCACCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(1133): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCC TCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCCC CTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCC TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG CCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTG CCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCACCTTCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCCTCCTGCCCT CCTGCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTAC CCCTCCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTC CCTTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCT CCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC TCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0211 a0001c0001t0045g0211	1	276	0.0036	1140	c.65 others(1151): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAGGAGGGGAGG GGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGGGAGGGGGT AGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGAGGGGAGGG GGGAGGGGTACAGGAGGGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGC AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGG GGGCAGGAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAG GAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGG CAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGA GGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAG GGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGG GAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGG GGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGG AGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAG GAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGG GGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCA GGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGG GCAGGAGGGGAGGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGG GGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGG GAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAG GAGGGG		ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding					3225		chr2	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(1133): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGG GATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGA TGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGGTGGGTGGAGGGATA GATGGGTGGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGG TGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTG GGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGG GGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAG ATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGAT GGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGG GTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGT GGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGG TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATA GGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGA TGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGGGTG GAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTG GGTGGAGGGATAGATGGGTGGATGGGTGGGTAGAAGGATAGGTAGGTGGG TGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAGGGATAGATGGGTG GGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGG GGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAG ATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGATGGGTGGGTGGAG GGATAGATGGGTGGGTGGGTGGGTGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0049 a0049	a0049c0121 a0049c0121	a0049c0121t0006 a0049c0121t0006	a0049c0121t0006g0076 a0049c0121t0006g0076	1	186	0.0054	1140	c.450 others(1157): Show c.450+1910_450+1911insCACCTATCCATCCACCCACCCACCCACC CACCCATCTATCCCTCCACCCACCCATCCACCTATCCATCCACCCACCCA CCCACCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATCCCTCC ACCCACCCACCCCCCCATCTATCCCTCCACCCACCCACCCACCTATCCAT CCACCCACCCACCCACCCATCTATCCCTCCACCCACCCATCCACCTATCC ATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCATCCACCCAT CTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCAC CCATCTATCCCTCCACCCACCCACCCCCCCATCTATCCCTCCACCCACCC ACCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCAC CCACCCATCCACCTATCCATCCACCCACCCACCCACCCACCCATCTATCC CTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCACCCATC TATCCCTCCACCCACCCACCCCCCCATCTATCCCTCCACCCACCCACCCA CCTATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACC CATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTACCCA CCCATCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATCCCTCC ACCCACCCACCCCCCCATCTATTCCTCCACCCACCCACCCACCTATCCAT CCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCT ATCCATCCACCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCAC CCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCC CTCCACCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCAC CCACCCATCTATCCCTCCACCCACCCATCCACCCACCCATCTATCCCTCC ACCCACCCATCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTAT CCATCCACCCACCCACCCACCTACCTATCCTTCTACCCACCCACCCATCT ATCCCTCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088874	T T	TGGCCAGG others(1133): Show TGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGGT CTGTGCAGAGTGGCCAGGGTCTTGGCAGGGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGGCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGAT CCGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGAG TGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGGAGGGCAGGGT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGGGAGGGCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAG TGGCCAGGATCTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAAGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAG TGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGG AGGGCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGAT CTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGGG AGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	102	0.0098	1140	c.-46 others(1151): Show c.-4656_-4655insTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCTCCCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTTCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCT TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCTTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGCCCTCCCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGACCCTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATC CTGGCCACTCTGCACGGATCCTGGCCACTCTGCACGGATCCTGGCCACTC TGCACGGATCCTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATC CTGGCCACTCTGCACAGATCCTGCCCACTCTGCACAGATCCTGCCCTCCC TGCACAGATCCTGGCCACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCACCCTGCCAAGACCCTGGCCACTC TGCACAGACCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATC CTGCCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTC TGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGACC CTGCCCTCCCTGCACAGATCATGGCCTCCCTGCACGGATCCTGGCCACTC TGCACGGATCCTGGCCACTCTGCACAGATCCTGCCTTCCCTGCACAGATC CTGGCC		LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding					4477		chr20	TogoVar
LMF1_chr16_848634_975984	953364	G G	GACCCCAA others(1133): Show GACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAACCA GCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTTCACACAGACA CGGACCCCAAACCAGCCTCCTACACGTTCACACAGACACGGACCCCAAAC CAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCAGCCTCCTACA CGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGA CACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAA ACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTA CACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACA GACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCC ACACCAGCCTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCC TACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACA CAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACC CCAAACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTT CCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCA CACAGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCA CTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGC CTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTC CACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACC CACCCCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCA GCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACA TCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACA CCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCC	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0089 a0001c0004t0001g0089	1	294	0.0034	1140	c.503 others(1155): Show c.503+992_503+993insGGGTGTCTGTGTGGACGTGTAGGAAGCTGG TGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGT GTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCT GGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGG GTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGG ATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGG CTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGTGGGGT GGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGT GGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGA GGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGG GTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGT GTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAG GAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTG GGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCT GTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGC AGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTT TGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGT CTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGT GTAGGAGGCTGGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGG TTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCCGT GTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCT GGTTTGGGGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953478	C C	CACTCCAA others(1133): Show CACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCA GCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACA CGGACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTGCACGTCCACACAGACACACACCCCAAACCAGCCTCCTGCA CATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGA CACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCAC ACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTA CACGTCCACACAGACACCCACCCCAGACCAGCTTCCTACACGTCCACACA GACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCC ACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCC TACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACA CAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACC CCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTT CCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCA CACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCA CCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGC TTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACATC CACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACC CACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCTTACATG TCCACACAGACACCCACTCCAAACCAGCCTCTTACATGTCCACACAGACA CGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0015 a0005c0034t0015	a0005c0034t0015g0274 a0005c0034t0015g0274	1	294	0.0034	1140	c.503 others(1155): Show c.503+878_503+879insCCGTGTCTCTGTGGACTTGTAGGAGGCTGG TTTGGGGTCCGTGTCTGTGTGGACATGTAAGAGGCTGGTTTGGAGTGGGT GTCTGTGTGGACATGTAAGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCT GGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGG GTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGG ACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAG CTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGT GGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGT GGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGA AGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGG GTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGT GTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAG GAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTG GGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTCTGGGGTGGGTGTCT GTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGT AGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTG TGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGT CTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGTGTGTCTGTGTGGACGT GCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGG TTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGT GTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCT GGTTTGGAGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953478	C C	CACTCCAA others(1133): Show CACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCA GCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTTCACACAGACA CGGACCCCAAACCAGCCTCCTGCACGTCCACACAGACACCCACCCCAAAC CAGCCTCCTGCACGTCCACACAGACACACACCCCAAACCAGCCTCCTGCA CATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGA CACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCAC ACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTA CACGTCCACACAGACACCCACCCCAGACCAGCTTCCTACACGTCCACACA GACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCC ACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCTTCC TACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCACA CAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCACC CCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACATCAGCTT CCTACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACACGTCCA CACAGACACCCACCCCACACCAGCTTCCTACACGTCCACACAGACACCCA CCCCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGC TTCCTACATGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACATC CACACAGACACCCACCCCACACCAGCCTCCTACACGTCCACACAGACACC CACCCCACACCAGCTTCCTACATGTCCACACAGACACCCACCCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCTTACATG TCCACACAGACACCCACTCCAAACCAGCCTCTTACATGTCCACACAGACA CGGACCCCAAACCAGCCTCCTACAAGTCCACAGAGACACGG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0275 a0001c0033t0001g0275	1	294	0.0034	1140	c.503 others(1155): Show c.503+878_503+879insCCGTGTCTCTGTGGACTTGTAGGAGGCTGG TTTGGGGTCCGTGTCTGTGTGGACATGTAAGAGGCTGGTTTGGAGTGGGT GTCTGTGTGGACATGTAAGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCT GGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTGTGGGGTGG GTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGG ACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAG CTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGT GGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGT GGACGTGTAGGAAGCTGATGTGGGGTGGGTGTCTGTGTGGACGTGTAGGA AGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGG GTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGT GTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAG GAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTG GGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTCTGGGGTGGGTGTCT GTGTGGACGTGTAGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGT AGGAAGCTGGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTG TGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGT CTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGTGTGTCTGTGTGGACGT GCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGCAGGAGGCTGG TTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGT GTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGGCT GGTTTGGAGT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LMF1_chr16_848634_975984	953966	C C	CTCCTGCA others(1133): Show CTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTC CACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGACACC CACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACTCCAAACCA GCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTGCACA TCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACA CCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCACAC CAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCTTCCTACA CGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACACAGA CACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACTCCAA ACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTG CACATCCACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACA GACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCC ACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCAGCTTCC TACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACATCCACA CAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACC CCACACCAGCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCCT CCTACATGTCCACACAGACACCCACTCCAAACCAGCCTCCTACACGTCCA CACAGACACCCACCCCAAACCAGCCTCCTGCACATCCACACAGACACAGA CCCGAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGC CTCCTACACGTCCACACAGACACCCACCCCACACCAGCCTCCTACACATC CACACAGACACAGACCCGAAACCAGCTTCCTACACGTCCACACAGACACC CACCCCACACCAGCCTCCTACACATCCACACAGACACAGACCCGAAACCA GCTTCCTACACGTCCACACAGACACCCACCCCACACCAGCT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	294	0.0034	1140	c.503 others(1155): Show c.503+390_503+391insAGCTGGTGTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGTAGGAGGCT GGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCT GTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGG ACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAG CTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGT GGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGT GGACATGTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGA AGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGG GTCTGTGTCTGTGTGGATGTGTAGGAGGCTGGTGTGGGGTGGGTGTCTGT GTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGTAG GAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTG GGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCT GTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGACGTGT AGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTG TGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGT CTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGT GTAGGAGGCTGGTGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGG TTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGT GTCTGTGTGGATGTGCAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGGAC GTGTAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGCT GGTGTGGGGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGG GTGTCTGTGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGG ATGTGCAGGA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10						chr16	TogoVar
LRRC7_chr1_69562922_70149364	69916099	T T	TTATATAT others(1133): Show TTATATATAATATATATATTATATACATATTTTGTATATATAATATATAT TATATACATATTTTATATATATAATATATATATTATATACATATTTTATA TATATAATATATATATTATATACATATTTTATATATATAATATATATAAT ATACATATTTTATATATAATATATATTATATACATATTTTATATATATTA TATATTATATACATATTTTATATATATAATATATATATTATATACATATT TCATATATATAATATATATTATATACATATTTCATATATAATATATATAT TATATACATATTTTATATATTATATATTATATACATATTTTATATATTAT ATATATTATATACATATTTTATATATTATATATATTATATACATATTTTA TATAATATATACATATTTTATATATAATATATATAATATACATATTTTAT ATATATAATATATATAATATACATATTTTATATATATAATATATATAATA TACATATTTTATATATATAATATATATAATATACATATTTTATATATATA ATATATATAATATACATATTTTATATATAATATATATAATATATATAATA TACATATTTTATATATAATATATATAATATATATAATATACATATTTTAT ATATAATATATATAATATACATATTTTATATATATAATATATATAATATA CATATTTTATATATATAATATATATAATATACATATTTTATATATAATAT ATATAATATACATATTTTATATATATAATATATATTATATACATATTTTA TATATATAATATATATTATATACATATTTTATATATATAATATATATTAT ATACATATTTTATATATATAATATATATTATATACATATTTTATATATAT AATATATATTATATACATATTTTATATATATAATATATATTATATACATA TTTTATATATATAATATATATTATATACATATTTTATATATATAATATAT ATTATATACATATTTTATATATATAATATATATTATATACATATTTTATA TATATAATATATATTATATACATATTTTATATATATAATATATATTATAT ACATATTTTATATATATAATATATATTATATACATATTTTA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0105 a0001c0002t0059g0105	1	108	0.0093	1140	c.648 others(1159): Show c.648-15376_648-15375insGTATATATAATATATATTATATACAT ATTTTATATATATAATATATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATAATATACATATT TTATATATAATATATATTATATACATATTTTATATATATTATATATTATA TACATATTTTATATATATAATATATATATTATATACATATTTCATATATA TAATATATATTATATACATATTTCATATATAATATATATATTATATACAT ATTTTATATATTATATATTATATACATATTTTATATATTATATATATTAT ATACATATTTTATATATTATATATATTATATACATATTTTATATAATATA TACATATTTTATATATAATATATATAATATACATATTTTATATATATAAT ATATATAATATACATATTTTATATATATAATATATATAATATACATATTT TATATATATAATATATATAATATACATATTTTATATATATAATATATATA ATATACATATTTTATATATAATATATATAATATATATAATATACATATTT TATATATAATATATATAATATATATAATATACATATTTTATATATAATAT ATATAATATACATATTTTATATATATAATATATATAATATACATATTTTA TATATATAATATATATAATATACATATTTTATATATAATATATATAATAT ACATATTTTATATATATAATATATATTATATACATATTTTATATATATAA TATATATTATATACATATTTTATATATATAATATATATTATATACATATT TTATATATATAATATATATTATATACATATTTTATATATATAATATATAT TATATACATATTTTATATATATAATATATATTATATACATATTTTATATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTATATATATAATATATATTATATACATATTTTATATATATAATA TATATTATATACATATTTTATATATATAATATATATTATATACATATTTT ATATATATAATATATATTATATACATATTTTATATATATAATATATATAT TATATACATATTTT		LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL28_chr16_361969_375538	370311	C C	CCCTACCC others(1133): Show CCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCA CCCCCGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTTCTACCCCGGCCCCCGGCTCTCACCTTCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCCTGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCTCTCACCTTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCCTAC CCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCT ACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCC CTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCA CTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGG CTCTCATCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCC GGCACTCACCCCCTACCCCGGCCCCCGGCTCTCATCTCCTACCCCGGCCC CCGGCTCTCATCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGC CCCCGGCTCTCATCTCCTACCCCGGCCCCCGGCTCTCACCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	394	0.0025	1140	c.-7- others(1151): Show c.-7-87_-7-86insAGGTGAGAGCCGGGGGCCGGGGTAGGAGATGAGA GCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGATGA GAGCCGGGGGCCGGGGTAGGAGATGAGAGCCGGGGGCCGGGGTAGGGGGT GAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAG ATGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGG GGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GAAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCC GGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGG GGCCGGGGTAGGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGAAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGG GGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAG CGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGAAGGTGAGAGCCGGGGGCCGGG GTAGAAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAG GGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGC CGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGG GGTAGG		MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5						chr16	TogoVar
OPCML_chr11_132409981_133537501	133354202	A A	ATGGTGGT others(1133): Show ATGGTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCC GGGGTGACGATGATGCTGGTGGTTGTGGTGATTGGGTGGTGATAATTGTG ATGGTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGAT GGTAGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGT GATGGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGG TGATGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATG GTGGTGACAGTGATGGTCACGGTGATGGTAGTGGGGCTAGTGGTGGTGGT AGTGATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGT TGATAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTG GTGACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTG GTGGTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCT GGTGGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGA TAGTGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGA TGGCGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTG CTGGTGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGT GATAGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAGTGGTGATGATGG TGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGGTAATGTTGATAGTG GTGGTGATGGTGATGATGCTGGTGCTGGTGGTGATGGTGGTGATGATGGT GATAGTGGGGGTGGTAGTGGTGGTGATAGTGATGATGGTGCTGGTGGCGT GTTGGTAGTGGTGGTGATGATGGTGGTGATGGTGATGCTGGGGGTGATGG TGGTGATCATGGTGATAGTGGTGGTGGTAGTGGTGGTGATAGTGATGATG GTGGTGGTGGTGATGGTGGTGGTGGTAGTGGTGATGATGGTGGTGATGGT GATGCTGGTGGTGATGGTGGTGGTAATGTTGATAGTGGTGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0045 a0001c0001t0006g0045	1	68	0.0147	1140	c.61+ others(1159): Show c.61+178061_61+178062insCCACCACTATCAACATTACCACCACC ATCACCACCAGCATCACCATCACCACCATCATCACCACTACCACCACCAC CATCACCACCACCACCATCATCACTATCACCACCACTACCACCACCACTA TCACCATGATCACCACCATCACCCCCAGCATCACCATCACCACCATCATC ACCACCACTACCAACACGCCACCAGCACCATCATCACTATCACCACCACT ACCACCCCCACTATCACCATCATCACCACCATCACCACCAGCACCAGCAT CATCACCATCACCACCACTATCAACATTACCACCACCATCACCACCAGCA TCACCATCACCACCACCATCATCACCACTACCACCACCACCATCACCACC ACCATCATCACTATCACCACCACTACCACCACCACTATCACCATTATCAC CACCATCACCACCAGCACCAGCATCATCACCACCATCACCACCAGCATCA CCATCACCACCGCCATCATCACTACCACCACCAACATGTCACCACCACCA GCATCATCATCACTATCACCACTACTACCACCACCACTATCACCATTATT ACCACCATCACCACCAGCACCAGCATCATCACCACCACCATCAACATTAT CACCACCATCACCACCAGCATCACCGTCACCACTGCCATCATCACTACCA CCACCAACATGTCACCACCACCAGCACCATCATCACTATCACCACCACCA CCACCACCACTATCAACATTATCACCACCATCACCACCAGCATCATCACC ACCACCATCATCACTACCACCACCACTAGCCCCACTACCATCACCGTGAC CATCACTGTCACCACCATCACTAGCACTACCACCATCACCACCACCAACA GCATCATCACCATCACCATCATCACCACCACCAGCATCATCACTATCATC ACTACCATCACCATCACCACCATCATCACCACTAGCACTATCAACATCAC CACCACCACACTACCATCACCATCACCACTCCCACTGCCATCACCACCGG CATCGGCATCACCATCACAATTATCACCACCCAATCACCACAACCACCAG CATCATCGTCACCCCGGCCATCACCATCACCACCAGCATCATTACGTCAT CACCACCACCACCA		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
PAK2_chr3_196734857_196837647	196811271	T T	TTCCTTCC others(1133): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTAC CCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCC TCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTT CCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCT TCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCCTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTTCC CTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTT CCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0172 a0001c0001t0023g0172	1	178	0.0056	1140	c.773 others(1155): Show c.773+621_773+622insTTCCTTCCTTCCTTCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTT CCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCCTCCCTTCCTTCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTC CTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCTTCCT TCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCCTCCCTTCCTTCCTCCCTTCCTT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTTCCTTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCTTCCCTTCCCTCCCT TCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCTTCCTTCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTTCCCTCC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PIEZO1_chr16_88710338_88790220	88713210	T T	TGAGAGCC others(1133): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCCTTCCCCGGGCCCTGACCCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGAC CCCCACTCATGCCCCCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC GAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCGAGAGCC CCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCC CCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCC TGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCC ACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACC CGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCC CCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCC CCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCCCTGA CCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC TGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0005 a0005	a0005c0059 a0005c0059	a0005c0059t0001 a0005c0059t0001	a0005c0059t0001g0072 a0005c0059t0001g0072	1	282	0.0036	1140	c.23 others(1151): Show c.2394_*2395insGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAG GGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGA GTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGTATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGCTCTCAGGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTA TGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGG GGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGG AAGGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGG TATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTG GGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGTATGAGTGGGGGTCAG GGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGG GGAAGGGGGCTCTCGGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGG GGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGGCTCTCA GGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGCTCTCGGGGGCATG AGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGT CAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCC CGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGGTCAGGGCCCGGGGA AGGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGG GCTCTC		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding					2127		chr16	TogoVar
RP1L1_chr8_10601349_10660143	10610094	C C	CCCTCTTC others(1133): Show CCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCA CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCGCC TCTTCTTGCAGCCCTTCTCCTCCTGTTTCTTCAATTTCCTCTAACTGCGC CTCTTCTTCTTGCTGTCCTTCTCCTTCCGTTTCTTTAGTTTCCTCTAACT GCACCCCCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTTCCTCTAACTG CACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCA CCCCCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGC ACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCAC CCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG CCTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACC CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCC CCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCC TCTTCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCCC CTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCT CTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCGCCTCT TCTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCCCCTC TTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCTCTT CTTGCAGCCCTTCTTCCGTTTCTTTAGTTCCCTCTAACTGCACCCCCTCT TCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTC TTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTCCACCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02615.hp2 HG02615.hp2	a0068 a0068	a0068c0185 a0068c0185	a0068c0185t0009 a0068c0185t0009	a0068c0185t0009g0259 a0068c0185t0009g0259	1	414	0.0024	1140	c.400 others(1149): Show c.4003_4004insCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG CAAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCT GCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGC AAGAAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTG CAAGAAGAGGCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCA AGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAG AAGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAA GAAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGA AGAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAG AAGAGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAA GAGGGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGA AGAGGCGGTGGAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAG AGGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGA GGGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGG GGGTGCAGTTAGAGGAAACTAAAGAAACGGAAGAAGGGCTGCAAGAAGAG GGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGG GGTGCAGTTAGAGGAAACTAAAGAAACGGAAGGAGAAGGACAGCAAGAAG AAGAGGCGCAGTTAGAGGAAATTGAAGAAACAGGAGGAGAAGGGCTGCAA GAAGAGGCGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGA AGAGGTGGTGCAGTTAGAGGGAACTAAAGAAACGGAAGAAGGGCTGCAAG AAGAGGGGGTGCAGTTAGAGGGGACTAAAGTAATAGAAGGGCTGCAAGAA GAGG	p.Glu others(1155): Show p.Glu1334_Gly1335insAlaValGluLeuGluGluThrLysThrGlu GluGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGl uGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluG luGlyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGlu GlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGl uGlyLeuGlnGluGluAlaValGluLeuGluGluThrLysThrGluGluG lyLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGl yLeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyL euGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLe uGlnGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyL euGlnGluGluAlaValGluLeuGluGluThrLysThrGluGluGlyLeu GlnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGl nGluGluGlyValGlnLeuGluGlyThrLysGluThrGluGluGlyLeuG lnGluGluGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGln GluGluGlyValGlnLeuGluGluThrLysGluThrGluGluGlyLeuGl nGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLeuGlnG luGluGlyValGlnLeuGluGluThrLysGluThrGluGlyGluGlyGln GlnGluGluGluAlaGlnLeuGluGluIleGluGluThrGlyGlyGluGl yLeuGlnGluGluAlaValGlnLeuGluGluThrLysThrGluGluGlyL euGlnGluGluValValGlnLeuGluGlyThrLysGluThrGluGluGly LeuGlnGluGluGlyValGlnLeuGluGlyThrLysValIleGluGlyLe uGlnGluGlu	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	4003/7203	1335/2400			chr8	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(1133): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGTGGTGGTGATGGTGATGGTGGTGATGATGGTGG TAGTGATGGTGATGGTGACGATGGTGGTGGTGGTGGTGATGGTGGTGATG ATGGTGATGGTGGTGATGATGGTGATGCTGATGGTGGTGGTGATGATGGT GATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGATGATGGTGGTGA TGATGATGGTGATGGTGGTGGTGATGATGGTGATGGTAGTGATGATGGAG GTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGAT GGTGGTGATGGTGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGA TGGTGGTGATGATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGATG ATGGTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGATAGTGATGGT GGTGATGATGGTGGTGGTGGTGATGGTGGTGATGGTGATGCTGGTGGTGA TGGTGATGGTGGTGGTGATGGTGATGGTGGTGATGATGATGGTGATGGTA GTGATGATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGTGGT GGTGGTGATGGTCATGATGGTGATGGTGGTGATGATGGTGGTGACGGTGG TGGTGGTGATGGTGACGGTGGTCATGGTGGTGGTGATGGTGATGGTGGTG ATGATGGTGATGGTGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGT GGTGGTGATGGTGATGGTGGTGATGACGGTGGTGGTGATGGTGGCAATGG TGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGATGTGAT GATGGTGGTGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGATAG TGATGGCGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGA TGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGATGATGGTGGTGGT GGTGATGATAGTGATGGCGATGGTGATGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	412	0.0024	1140	c.-48 others(1151): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGATGGTGATGG TGGTGATGATGGTGGTAGTGATGGTGATGGTGACGATGGTGGTGGTGGTG GTGATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGATGCTGATGGT GGTGGTGATGATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGG TGATGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATGATGGTGATG GTAGTGATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGAT GGTGGTGGTGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGGTGATGG TGGTGGTGATGGTGATGGTGGTGATGATGATGGTGATGGTAGTGATGATG GTGGTGATGGTGATGATGGTGATGGTAGTGATGATGGAGGTGACGGTGAT GGTGATAGTGATGGTGGTGATGATGGTGGTGGTGGTGATGGTGGTGATGG TGATGCTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGGTGGTGATG ATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGATGATGGTGATGGT AGTGATGATGGTGGTGGTGGTGATGGTCATGATGGTGATGGTGGTGATGA TGGTGGTGACGGTGGTGGTGGTGATGGTGACGGTGGTCATGGTGGTGGTG ATGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT GATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGACGGTGGTGG TGATGGTGGCAATGGTGATGATGTGATGATGGTGGTGGTGATGATAGTGA TGGCGATGATGTGATGATGGTGGTGGTGGTGGTGATGGCGATGGTGATGA TGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGATGA TAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGT GATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGATGGTGG TGGTGA		RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding					4824		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(1133): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATTCCATATATATTCCATATATATATTCCATATATATATTCCATAT ATATATATATTCCATATATATATTCCATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	324	0.0031	1140	c.115 others(1157): Show c.115-2676_115-2675insATGGAATATATATATGGAATATATATAT GGAATATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATGGAAT ATATATATATAT		SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19						chr20	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(1133): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCTG GAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCA GGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG CGCTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT GGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGA GGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGAAGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	373	0.0027	1140	c.115 others(1157): Show c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC TTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCTTCCCTGCCC CTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGC CCCTCCCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCC CCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGC CTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCT GCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGC CCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCC CTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC AGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTC		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14						chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414498	G G	GGAGAAGG others(1133): Show GGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGG CGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAG AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACT GGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	373	0.0027	1140	c.115 others(1157): Show c.1156+192_1156+193insTGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTG CCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCC AGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCC CGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGC CCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCC CCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGC CTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCT GCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGC CCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCC CTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCG GCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCA GTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCG CCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCTC		SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14						chr5	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(1133): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCT GTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTCTCCACTG TGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCA TGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAG GGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTG TTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGT GTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGG GATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCT GGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGT TAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGC ATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0022	1	150	0.0067	1140	c.532 others(1161): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATC CACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG AAGCATCCACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAA TCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGT GGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGA GCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAAG ACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGA TGCAAAGACAGTGAGCACAGTGGAGAGCACACGAATCCCTCCCCAGAACT AACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAAT CCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCA CACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAG CACAGTGGAAAGCACA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(1133): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCTTCCT GTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTG TGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAG GGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTC TGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTG TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGATG CTTCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACT GTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCAT GTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGG GATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTTCT GGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGT TAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGC ATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTG TCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTG CTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0002 a0001c0009t0001g0002	1	150	0.0067	1140	c.532 others(1161): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGA ATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAG CACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAG TGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTG AGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAA GACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGG AAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAAC TAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCCCTCC CCAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAA TCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGT GGAAAGCACATGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGA GCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCC ACAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGA TGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACT AACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCC CAGAACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAAT CCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGCGGAAAGCA CACGAATCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTG GAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAG CACAGTGGAAAGCACA		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNPH_chr20_1261294_1314327	1302498	A A	ATTTCTAA others(1133): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATC AATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGC CAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTC CCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCT CAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCAT CAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCG CCAGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATT CCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCC TCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCA TCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACC GCCAAGTTTCTAATTTCATCAATATTTCCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAAATTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATT TCATCAATATTTCTATCACCTCAAATAAACCCCATTCCCATTAGCAATCA CCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0165 a0001c0001t0022g0165	1	350	0.0029	1140	c.440 others(1157): Show c.440+1920_440+1921insATTTCTAATTTCATCAATATTTCTATCA CCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTT CATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCA CCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCC ATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATC ACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATT TCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATC ACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCC CATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTAT CACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAAT TTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCATTAGCAATC ACCGCCAATTTCTAATTTCATCAATATTTCTATCACCCTCAAAATAAACC CCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTA TCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAAGTTTCTA ATTTCATCAATATTTCCTATCACCTCAAAATAAACCCCATTCCCATTAGC AATCACCGCCAAATTCTAATTTCATCAATATTTCTATCACCTCAAAATAA ACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTT CTATCACCTCAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCT AATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGC AATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAA ACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTT CTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTC TAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAG CAATCACCGCCA		SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1133): Show ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATAAATATATATAAATATATATAAATATATATATAAATATATATAA ATATATATAAATATATAAATATATATAAATATATATATAAATATATATAA ATATATATATAAATATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATAAATATATAAATATATATAAATATATATATAAATATAT ATAAATATATATATAAATATATATAAATATATATAAATATATATATAAAT ATATATAAATATATATATAAATATATATAAATATATATAAATATATATAT AAATATATATACATATATATAAATATATATAAATATATATACATATATAA ATATATAAAAAATATATAAATATATAAAAAATATATAAATATATAAAAAT ATATATAAATATATATAAATATATATACATATATATACATATATATAAAT ATATAAAAATATATAAATATATATAAATATAAATATATACAAATATATAT ATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAAATAT ATATATTAATATATAAAAATATATATATTAATATATAAAAATATATATAA ATATATATATAAATATATATATATAAATATATATAAAAATATATATAAAA ATATATATAAATATATATAAATATATATAAATATATATAAATATATATAA ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT ATAAATATATATAAACATATATAAATATATATAAAAATATATATAAATAT ATATAAATATATATAAATATATATAAAAATATATATAAATATATATATAA ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAA AAAATATATATAAATATATAAATATATATATATAAATATATATAAATATA TAAAAAAAATATATATAAATATATATAAATATATTTATATATATAAATAT ATTTATATATAAATATAAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	186	0.0054	1140	c.-50 others(1151): Show c.-5060_-5059insTATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA AATATATATAAATATATATATAAATATATATAAATATATATAAATATATA TATAAATATATATAAATATATATAAATATATAAATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATACATATATATAAATATATATAAATA TATATACATATATAAATATATAAAAAATATATAAATATATAAAAAATATA TAAATATATAAAAATATATATAAATATATATAAATATATATACATATATA TACATATATATAAATATATAAAAATATATAAATATATATAAATATAAATA TATACAAATATATATATAAATATGTATAAATATATAAAAATATATATATA AATATATAAAAATATATATATTAATATATAAAAATATATATATTAATATA TAAAAATATATATAAATATATATATAAATATATATATATAAATATATATA AAAATATATATAAAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAACATATATAAATATATATAAA AATATATATAAATATATATAAATATATATAAATATATATAAAAATATATA TAAATATATATATAAATATATATAAATATATATATAAATATATATAAATA TATATAAATATATAAAAAATATATATAAATATATAAATATATATATATAA ATATATATAAATATATAAAAAAAATATATATAAATATATATAAATATATT TATATATATAAATATATTTATATATAAATATAAATATATATAAATATATA TATATT		SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding					4978		chr12	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(1133): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCA TCCTATCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCC CCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCACCAT CCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCC ACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTATC CACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCACT ATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCACC ATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCA CCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTACCC ATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCATCC ATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCACAC TGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCATCC ATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCATCC ACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGTCT ATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTATCT ATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTATCT ACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCACCC TATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCATC CATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTATC TATCCACCCATCCACCTATCCTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0212 a0001c0001t0008g0212	1	258	0.0039	1140	c.113 others(1159): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATC CTATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCCCCACCATCCCCCATCCTATCCACCCACCCACCATC CCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCCTATCCACCCA CCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCA CCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCCACCATCCT ATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACACCCATCCT ATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCACTATCCAT CCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACTCACCCACC CGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATAT CCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATCCACCCACC GTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACCCATCCACC CACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATCTATCCACC CACCCACCCACACTATCCATCCACCCACCCAACCACCCATCCTATTCATC CATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCCTATTCATC CATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCCACACTATC CACCCACCCACACACCCTATCTACCCACCCAATATATCCACCCACCCACC TACACCATCCACCCACCCACCCTATCTATCCACCCACCCACACTATCCAT CCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGCCAATTTAT CCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATCCTATTCAT CCATCCACCCACCC		TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377554	G G	GCCCCCAC others(1133): Show GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCTGTGCCCCCAC CCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTGCCCC ACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT GTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0242 a0001c0001t0003g0243	2	370	0.0054	1140	c.-15 others(1151): Show c.-1585_-1584insGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACACAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTG GGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAG GCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAG AGGCTGGGTGGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACG GGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1529		chr19	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1133): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTGTTTGTGTGTGTGTGAATGTGTGGGTGT GTGTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGGATGTGTGGGT GTGTTTTGTGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCT GTGTGTGGATGAGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTG TGGGTGTGTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTG TGTGGATGTGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGG GTGTGTTTTGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTG TGTGTGTGTCTGTGTGGGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGG ATGTGTGGGTGTGTTTTATATGTTTGTGAGTGTGTATGTGTGGGTGTGTT TTGTGTGTGGGTGTGTGTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGT GGATGTGTGGGTGTGTTTGTGTGTTTGTGGATGTGTGGGTGTGTTTTTTG TGTTTGTGTGTAGATGTGTGGGTGTGTGTATATGTGGGTGTGTTTTGTGT TTGTGAGTGTGTGTAGATATGTGGATGTGTTTTGTGTGTGTGGATGTTTT GTGTGTGTGTATGTGTGGGTGTTCGTGTGTGCGAATGCGGTTGTATGGGT TTGTGTGACTGTGTGTGATGTGTGTGTTCATTTGTGTGTGTGTGTGGATG TGTGGGTGTGGGTGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGTGTTT GTGTGTATGTGTGGGTGTATTTGTGTGTCTGTGTAGATGGGTGGCTGTGG GTGTGTGTGGCTGTGTGGGTGTGTTTTGTGTGTGTGTCTGTGTGGATGTG TGGGTGTGTGTGTTTGTGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTGGA TGTGTGGGTGTAGTGTTTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGT GTTTGTGTGGATGTGTGGGTGTGTTTGTGTGTGGATGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0022 a0003c0002t0022	a0003c0002t0022g0154 a0003c0002t0022g0154	1	174	0.0058	1140	c.148 others(1161): Show c.1482-25012_1482-25011insCACACATCCACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA AACACTACACCCACACATCCACACACAGACACAAACACACTCACACAGAC ACAAACACACACACCCACACATCCACACAGACACACACACAAAACACACC CACACAGCCACACACACCCACAGCCACCCATCTACACAGACACACAAATA CACCCACACATACACACAAACACACCCACAAACACAACACACCTACACAT CCACACCCACACCCACACATCCACACACACACACAAATGAACACACACAT CACACACAGTCACACAAACCCATACAACCGCATTCGCACACACGAACACC CACACATACACACACACAAAACATCCACACACACAAAACACATCCACATA TCTACACACACTCACAAACACAAAACACACCCACATATACACACACCCAC ACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACACACA AACACACCCACACATCCACACACACAGACACACCCACACATAAGCACAGA CACACACCCACACACAAAACACACCCACACATACACACTCACAAACATAT AAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACACCC CCACACAGACACACACACACACCCACACATCCACACAGACACACACTCAG AAACACACAAAACACACCCACACATACACAGATACACAAACACACAAAAC ATACCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACA CACACAAAACACACCCACACATCCACAGATACACAAACACACGAAACACA CCCACTCATCCACACACAGACACACAAAACACACCCGCACATCCACACAC ACAAAAACACAAAACACACCCACACATCCACAGACACACAAACACACACC CACAGACACACAAACACACACCCACACATTCACACACACACAAACACATC CACACACACCCACACATACACACAGACACACTCACAAACGCAACCACACA CACGGACACACACAGATACAATCACAGTCACACAAACCCACACAACCACA CTTACGGACACACACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1133): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTGTTTGTGTGTGTGTGAATGTGTGGGTGT GTGTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGGATGTGTGGGT GTGTTTTGTGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCT GTGTGTGGATGTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTG TGGGTGTGTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTG TGTGGATGTGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGG GTGTGTTTTGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTG TGTGTGTCTGTGTGGGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGGAT GTGTGGGTGTGTTTTATATGTTTGTGAGTGTGTATGTGTGGGTGTGTTTT GTGTGTGGGTGTGTGTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGTGT GGATGTGTGGGTGTGTTTGTGTGTTTGTGGATGTGTGGGTGTGTTTTTTG TGTTTGTGTGTAGATGTGTGGGTGTGTGTATATGTGGGTGTGTTTTGTGT TTGTGAGTGTGTGTAGATATGTGGACGTGTTTTGTGTGTGTGGATGTTTT GTGTGTGTGTATGTGTGGGTGTTTGTGTGTGCGAATGCGGTTGTATGGGT TTGTGTGACTGTGTGTGATGTGTGTGTTCATTTGTGTGTTTGTGTGTGTG GATGTGTGGGTGTGGGTGTGGATGTGTAGGTGTGTTGTTTGTGGGTGTGT TTGTGTGTATGTGTGGGTGTATTTGTGTGTCTGTGTAGATGGGTGGCTGT GGGTGTGTGTGGCTGTGTGGGTGTGTTTTGTGTGTGTGTCTGTGTGGATG TGTGGGTGTGTGTGTTTGTGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTG GATGTGTGGGTGTAGTGTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGT GTTTGTGTGGATGTGTGGGTGTGTTTGTGTGTGGATGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	174	0.0058	1140	c.148 others(1161): Show c.1482-25012_1482-25011insCACACATCCACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA CACTACACCCACACATCCACACACAGACACAAACACACTCACACAGACAC AAACACACACACCCACACATCCACACAGACACACACACAAAACACACCCA CACAGCCACACACACCCACAGCCACCCATCTACACAGACACACAAATACA CCCACACATACACACAAACACACCCACAAACAACACACCTACACATCCAC ACCCACACCCACACATCCACACACACAAACACACAAATGAACACACACAT CACACACAGTCACACAAACCCATACAACCGCATTCGCACACACAAACACC CACACATACACACACACAAAACATCCACACACACAAAACACGTCCACATA TCTACACACACTCACAAACACAAAACACACCCACATATACACACACCCAC ACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACACACA AACACACCCACACATCCACACACACACAGACACACCCACACATAAGCACA GACACACACCCACACACAAAACACACCCACACATACACACTCACAAACAT ATAAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACAC CCCCACACAGACACACACACACCCACACATCCACACAGACACACACTCAG AAACACACAAAACACACCCACACATACACAGATACACAAACACACAAAAC ATACCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACA CACACAAAACACACCCACACATCCACAGATACACAAACACACGAAACACA CCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACACAC ACAAAAACACAAAACACACCCACACATCCACAGACACACAAACACACACC CACAGACACACAAACACACACCCACACATTCACACACACACAAACACATC CACACACACCCACACATACACACAGACACACTCACAAACGCAACCACACA CACGGACACACACAGATACAATCACAGTCACACAAACCCACACAACCACA CTTACGGACACACACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1133): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTGTTTGTGTGTGTGTGAATGTGTGGGTGT GTGTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGGATGTGTGGGT GTGTTTTGTGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCT GTGTGTGGATGTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTG TGGGTGTGTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTG TGTGGATGTGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGG GTGTGTTTTGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTG TGTGTGTGTCTGTGTGGGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGG ATGTGTGGGTGTGTTTTATATGTTTGTGAGTGTGTATGTGTGGGTGTGTT TTGTGTGTGGGTGTGTGTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGT GGATGTGTGGGTGTGTTTGTGTGTTTGTGGATGTGTGGGTGTGTTTTTTG TGTTTGTGTGTAGATGTGTGGGTGTGTGTATATGTGGGTGTGTTTTGTGT TTGTGAGTGTGTGTAGATATGTGGATGTGTTTTGTGTGTGTGGATGTTTT GTGTGTGTGTATGTGTGGGTGTTCGTGTGTGCGAATGCGGTTGTATGGGT TTGTGTGACTGTGTGTGATGTGTGTGTTCATTTGTGTGTGTGTGTGGATG TGTGGGTGTGGGTGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGTGTTT GTGTGTATGTGTGGGTGTATTTGTGTGTCTGTGTAGATGGGTGGCTGTGG GTGTGTGTGGCTGTGTGGGTGTGTTTTGTGTGTGTGTCTGTGTGGATGTG TGGGTGTGTGTGTTTGTGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTGGA TGTGTGGGTGTAGTGTTTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGT GTTTGTGTGGATGTGTGGGTGTGTTTGTGTGTGGATGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02976.hp1 others(2): Show HG00639.hp1 HG02055.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0004 a0003c0002t0009 others(1): Show a0003c0002t0002 a0003c0002t0004 a0003c0002t0009 a0003c0002t0024	a0003c0002t0002g0165 a0003c0002t0004g0162 a0003c0002t0004g0164 others(2): Show a0003c0002t0002g0165 a0003c0002t0004g0162 a0003c0002t0004g0164 a0003c0002t0009g0159 a0003c0002t0024g0171	5	174	0.0287	1140	c.148 others(1161): Show c.1482-25012_1482-25011insCACACATCCACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA AACACTACACCCACACATCCACACACAGACACAAACACACTCACACAGAC ACAAACACACACACCCACACATCCACACAGACACACACACAAAACACACC CACACAGCCACACACACCCACAGCCACCCATCTACACAGACACACAAATA CACCCACACATACACACAAACACACCCACAAACACAACACACCTACACAT CCACACCCACACCCACACATCCACACACACACACAAATGAACACACACAT CACACACAGTCACACAAACCCATACAACCGCATTCGCACACACGAACACC CACACATACACACACACAAAACATCCACACACACAAAACACATCCACATA TCTACACACACTCACAAACACAAAACACACCCACATATACACACACCCAC ACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACACACA AACACACCCACACATCCACACACACAGACACACCCACACATAAGCACAGA CACACACCCACACACAAAACACACCCACACATACACACTCACAAACATAT AAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACACCC CCACACAGACACACACACACACCCACACATCCACACAGACACACACTCAG AAACACACAAAACACACCCACACATACACAGATACACAAACACACAAAAC ATACCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACA CACACAAAACACACCCACACATCCACAGATACACAAACACACGAAACACA CCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACACAC ACAAAAACACAAAACACACCCACACATCCACAGACACACAAACACACACC CACAGACACACAAACACACACCCACACATTCACACACACACAAACACATC CACACACACCCACACATACACACAGACACACTCACAAACGCAACCACACA CACGGACACACACAGATACAATCACAGTCACACAAACCCACACAACCACA CTTACGGACACACACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1133): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTGTTTGTGTGTGTGTGAATGTGTGGGTGT GTGTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGGATGTGTGGGT GTGTTTTGTGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCT GTGTGTGGATGTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTG TGGGTGTGTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTG TGTGGATGTGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGG GTGTGTTTTGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTG TGTGTGTGTCTGTGTGGGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGG ATGTGTGGGTGTGTTTTATATGTTTGTGAGTGTGTATGTGTGGGTGTGTT TTGTGTGTGGGTGTGTGTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGT GGATGTGTGGGTGTGTTTGTGTGTTTGTGGATGTGTGGGTGTGTTTTTTG TGTTTGTGTGTAGATGTGTGGGTGTGTGTATATGTGGGTGTGTTTTGTGT TTGTGAGTGTGTGTAGATATGTGGATGTGTTTTGTGTGTGTGGATGTTTT GTGTGTGTGTATGTGTGGGTGTTTGTGTGTGCGAATGCGGTTGTATGGGT TTGTGTGACTGTGTGTGATGTGTGTGTTCATTTGTGTGTGTGTGTGGATG TGTGGGTGTGGGTGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGTGTTT GTGTGTATGTGTGGGTGTATTTGTGTGTCTGTGTAGATGGGTGGCTGTGG GTGTGTGTGGCTGTGTGGGTGTGTTTTGTGTGTGTGTCTGTGTGGATGTG TGGGTGTGTGTGTTTGTGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTGGA TGTGTGGGTGTAGTGTTTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGT GTTTGTGTGGATGTGTGGGTGTGTTTGTGTGTGGATGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG01109.hp1 HG02451.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0058 a0003c0002t0001 a0003c0002t0058	a0003c0002t0001g0161 a0003c0002t0058g0155 a0003c0002t0001g0161 a0003c0002t0058g0155	2	174	0.0115	1140	c.148 others(1161): Show c.1482-25012_1482-25011insCACACATCCACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA AACACTACACCCACACATCCACACACAGACACAAACACACTCACACAGAC ACAAACACACACACCCACACATCCACACAGACACACACACAAAACACACC CACACAGCCACACACACCCACAGCCACCCATCTACACAGACACACAAATA CACCCACACATACACACAAACACACCCACAAACACAACACACCTACACAT CCACACCCACACCCACACATCCACACACACACACAAATGAACACACACAT CACACACAGTCACACAAACCCATACAACCGCATTCGCACACACAAACACC CACACATACACACACACAAAACATCCACACACACAAAACACATCCACATA TCTACACACACTCACAAACACAAAACACACCCACATATACACACACCCAC ACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACACACA AACACACCCACACATCCACACACACAGACACACCCACACATAAGCACAGA CACACACCCACACACAAAACACACCCACACATACACACTCACAAACATAT AAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACACCC CCACACAGACACACACACACACCCACACATCCACACAGACACACACTCAG AAACACACAAAACACACCCACACATACACAGATACACAAACACACAAAAC ATACCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACA CACACAAAACACACCCACACATCCACAGATACACAAACACACGAAACACA CCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACACAC ACAAAAACACAAAACACACCCACACATCCACAGACACACAAACACACACC CACAGACACACAAACACACACCCACACATTCACACACACACAAACACATC CACACACACCCACACATACACACAGACACACTCACAAACGCAACCACACA CACGGACACACACAGATACAATCACAGTCACACAAACCCACACAACCACA CTTACGGACACACACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1133): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGTAT GTGTGGGTGTGTGTGGATGTGTTTGTGTGTGTGTGAATGTGTGGGTGTGT GTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGGATGTGTGGGTGT GTTTTGTGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGT GTGTGGATGTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTGTG GGTGTGTTTTGTGTGTGTGGATGTGCGGGTGTGTTTCGTGTGTCTGTGTG TGGATGTGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGGGT GTGTTTTGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTGTG TGTGTGTCTGTGTGGGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGGAT GTGTGGGTGTGTTTTATATGTTTGTGAGTGTGTATGTGTGGGTGTGTTTT GTGTGTGGGTGTGTGTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGTGT GGATGTGTGGGTGTGTTTGTGTGTTTGTGGATGTGTGGGTGTGTTTTTTG TGTTTGTGTGTAGATGTGTGGGTGTGTGTATATGTGGGTGTGTTTTGTGT TTGTGAGTGTGTGTAGATATGTGGACGTGTTTTGTGTGTGTGGATGTTTT GTGTGTGTGTATGTGTGGGTGTTTGTGCGTGCGAATGCGGTTGTATGGGT TTGTGTGACTGTGTGTGATGTGTGTGTTCATTTGTGTGTTTGTGTGTGTG GATGTGTGGGTGTGGGTGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGT GTTTGTGTGTATGTGTGGGTGTATTTGTGTGTCTGTGTAGATGGGTGGCT GTGGGTGTGTGTGGCTGTGTGGGTGTGTTTTGTGTGTGTGTCTGTGTGGA TGTGTGGGTGTGTGTGTTTGTGTCTGTGTGTGTTTGTGTCTGTGTGTGGA TGTGTGGGTGTAGTGTTTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGT GTTTGTGTGGATGTGTGGGTGTGTTTGTGTGTGGATGTGTG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0075 a0001c0001t0038g0075	1	174	0.0058	1140	c.148 others(1161): Show c.1482-25012_1482-25011insCACACATCCACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA AACACTACACCCACACATCCACACACAGACACAAACACACACAGACACAA ACACACACACCCACACATCCACACAGACACACACACAAAACACACCCACA CAGCCACACACACCCACAGCCACCCATCTACACAGACACACAAATACACC CACACATACACACAAACACACCCACAAACACAACACACCTACACATCCAC ACCCACACCCACACATCCACACACACAAACACACAAATGAACACACACAT CACACACAGTCACACAAACCCATACAACCGCATTCGCACGCACAAACACC CACACATACACACACACAAAACATCCACACACACAAAACACGTCCACATA TCTACACACACTCACAAACACAAAACACACCCACATATACACACACCCAC ACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACACACA AACACACCCACACATCCACACACACACAGACACACCCACACATAAGCACA GACACACACCCACACACAAAACACACCCACACATACACACTCACAAACAT ATAAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACAC CCCCACACAGACACACACACACACCCACACATCCACACAGACACACACTC AGAAACACACAAAACACACCCACACATACACAGATACACAAACACACAAA ACATACCCACACATCCACACACAGACACACGAAACACACCCGCACATCCA CACACACAAAACACACCCACACATCCACAGATACACAAACACACGAAACA CACCCACACATCCACACACAGACACACAAAACACACCCGCACATCCACAC ACACAAAAACACAAAACACACCCACACATCCACAGACACACAAACACACA CCCACAGACACACAAACACACACCCACACATTCACACACACACAAACACA TCCACACACACCCACACATACACACAGACACACTCACAAACGCAACCACA CACACGGACACACACATACAATCACAGTCACACAAACCCACACAACCACA CTTACGGACACACACA		TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8						chr9	TogoVar
ABCB5_chr7_20610667_20762008	20668975	G G	GGGGGGGT others(1134): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGGGGTG GGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTG GGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGG AGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCG GGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCG CCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCT GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0049 a0002c0014t0003g0049	1	360	0.0028	1141	c.170 others(1162): Show c.1707+10331_1707+10332insCATCCGGGAGGGGGGTGGGGGGGG GTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGGGGGGAT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTC AGCCCCCCCGCCTGGCCAGCCGCCCTATCCGGGAGGGGGGTGGAGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAG CCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC ATCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCTGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCA GCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGCGGAGGGGGGGGTCGGCCAGCCGCCCTGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGACCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCC		ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	14/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
APCDD1L_chr20_58454101_58520399	58520302	T T	TAGGAGGA others(1134): Show TAGGAGGATGGGTAGGTGGATGGGAGTGAGATGGATGGGTGGACGGATGG ATAGATGGATGGATGAGTGGATGAGTGGGTGGATGGGTGGATGAATGGGT GGATGGGTCAGTAGGTGGATGAGCTGGTGGATTAATGGGTGGATGAGTGG GTGGGTAAATGGATAGATGGATAAATGGGTGAGTAGGTAGGTGAGTTAAT GAGGGGATGATTGATTGAATGGGTGAGTAAATGGGTGGCTGGGTGGATGG GTGGGCAGATGGGTGGATGAGTGAGTGGGGTAGGTGGGTGGATAGGTGGG TGGGTTAATGACTGAGTGAATGGATAGGTAGATCAGGGAGGGAGTGAGTG AGTGGGTGGGTGGATGGTTGGGTGGGTGGTTGGATAGGTGAATGGGTGAG TGGATGCATAGGTGATGGATGGGTAGGTGGGTGGGCTAATGGGTGGGTGT GTGAGTGGGTGAGTGTATGGGTGGGTGGGTGGGTGGATAGACGGGAGGGT GGATAGGTGTGTGGGTGGGCAGGTGGGTGGGTGGATAAGTGGGAGGGTGG ATAGGTGGGTGGGTGGATAGGTGGGTGGGTGGGTGGGTGTATGGATAGGT GAATGGGTGAGTGGATGGATAGGTGACGGATGGGTAGGTGGGTGGGCTCA TGAGTGGATGGGTGTGCAAGAAGGTTAGCGTATGGGTGGGTGGATAGATG GGAGGGTAGATAGGTGTGTGGGTGGATAGGTGGGAAGGTGGATGGGTGGG TGGATAGGTGGGTGGGTGGATAGGTGGGAGGGTGGATAGGCGGGAGGGTG GATAGGCGGGTGGGTGGATAGGCAGGTGGGTGGGTGGGTGGATGGATAGG TGAATGGGTGAGTGGATAGATAGGTGATGGATGGGTAGGTGGGTGGGCTA ATGAGTGGATGGGTGTGTGAGATGGTGAGTATATGGGTGGATGGGTGGGT GGGTGGATAGATGAGAGGGTGGATAGGTGTGTGGGTGGATAGGTGGGAAG ATGGATAGGTGGGTGGGTGGATAGGTGGGAGGGTGGATAGGCAGGTGGGT GGGTGGATGGATAGGTGAATGGGTGAGTGCATGGATAGGTGATGGATGAG TAGATGGGTAGGCTAATGAGTGGATGGGTGTGTGACAGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	376	0.0027	1141	c.-55 others(1152): Show c.-5596_-5595insCACCCTGTCACACACCCATCCACTCATTAGCCTA CCCATCTACTCATCCATCACCTATCCATGCACTCACCCATTCACCTATCC ATCCACCCACCCACCTGCCTATCCACCCTCCCACCTATCCACCCACCCAC CTATCCATCTTCCCACCTATCCACCCACACACCTATCCACCCTCTCATCT ATCCACCCACCCACCCATCCACCCATATACTCACCATCTCACACACCCAT CCACTCATTAGCCCACCCACCTACCCATCCATCACCTATCTATCCACTCA CCCATTCACCTATCCATCCACCCACCCACCCACCTGCCTATCCACCCACC CGCCTATCCACCCTCCCGCCTATCCACCCTCCCACCTATCCACCCACCCA CCTATCCACCCACCCATCCACCTTCCCACCTATCCACCCACACACCTATC TACCCTCCCATCTATCCACCCACCCATACGCTAACCTTCTTGCACACCCA TCCACTCATGAGCCCACCCACCTACCCATCCGTCACCTATCCATCCACTC ACCCATTCACCTATCCATACACCCACCCACCCACCCACCTATCCACCCAC CCACCTATCCACCCTCCCACTTATCCACCCACCCACCTGCCCACCCACAC ACCTATCCACCCTCCCGTCTATCCACCCACCCACCCACCCATACACTCAC CCACTCACACACCCACCCATTAGCCCACCCACCTACCCATCCATCACCTA TGCATCCACTCACCCATTCACCTATCCAACCACCCACCCAACCATCCACC CACCCACTCACTCACTCCCTCCCTGATCTACCTATCCATTCACTCAGTCA TTAACCCACCCACCTATCCACCCACCTACCCCACTCACTCATCCACCCAT CTGCCCACCCATCCACCCAGCCACCCATTTACTCACCCATTCAATCAATC ATCCCCTCATTAACTCACCTACCTACTCACCCATTTATCCATCTATCCAT TTACCCACCCACTCATCCACCCATTAATCCACCAGCTCATCCACCTACTG ACCCATCCACCCATTCATCCACCCATCCACCCACTCATCCACTCATCCAT CCATCTATCCATCCGTCCACCCATCCATCTCACTCCCATCCACCTACCCA TCCTCCT		APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding					4904		chr20	TogoVar
APCDD1L_chr20_58454101_58520399	58520302	T T	TAGGAGGA others(1134): Show TAGGAGGATGGGTAGGTGGATGGGAGTGAGATGGATGGGTGGACGGATGG ATAGATGGATGGATGAGTGGATGAGTGGGTGGATGGGTGGATGAATGGGT GGATGGGTCAGTAGGTGGATGAGCTGGTGGATTAATGGGTGGATGAGTGG GTGGGTAAATGGATAGATGGATAAATGGGTGAGTAGGTAGGTGAGTTAAT GAGGGGATGATTGATTGAATGGGTGAGTAAATGGGTGGCTGGGTGGATGG GTGGGCAGATGGGTGGATGAGTGAGTGGGTAGGTGGGTGGATAGGTGGGT GGGTTAATGACTGAGTGAATGGATAGGTAGATCAGGGAGGGAGTGAGTGA GTGGGTGGGTGGATGGGTTGGGTGGGTGGTTGGATAGGTGAATGGGTGAG TGGATGCATAGGTGATGGATGGGTAGGTGGGTGGGCTAATGGGTGGGTGT GTGAGTGGGTGAGTGTATGGGTGGGTGGGTGGGTGGATAGACGGGAGGGT GGATAGGTGTGTGGGTGGGCAGGTGGGTGGGTGGATAAGTGGGAGGGTGG ATAGGTGGGTGGGTGGATAGGTGGGTGGGTGGGTGGGTGTATGGATAGGT GAATGGGTGAGTGGATGGATAGGTGACGGATGGGTAGGTGGGTGGGCTCA TGAGTGGATGGGTGTGCAAGAAGGTTAGCGTATGGGTGGGTGGATAGATG GGAGGGTAGATAGGTGTGTGGGTGGATAGGTGGGAAGGTGGATGGGTGGG TGGATAGGTGGGTGGGTGGATAGGTGGGAGGGTGGATAGGCGGGAGGGTG GATAGGCGGGTGGGTGGATAGGCAGGTGGGTGGGTGGGTGGATGGATAGG TGAATGGGTGAGTGGATAGATAGGTGATGGATGGGTAGGTGGGTGGGCTA ATGAGTGGATGGGTGTGTGAGATGGTGAGTATATGGGTGGATGGGTGGGT GGGTGGATAGATGAGAGGGTGGATAGGTGTGTGGGTGGATAGGTGGGAAG ATGGATAGGTGGGTGGGTGGATAGGTGGGAGGGTGGATAGGCAGGTGGGT GGGTGGATGGATAGGTGAATGGGTGAGTGCATGGATAGGTGATGGATGAG TAGATGGGTAGGCTAATGAGTGGATGGGTGTGTGACAGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0249 a0003c0003t0001g0249	1	376	0.0027	1141	c.-55 others(1152): Show c.-5596_-5595insCACCCTGTCACACACCCATCCACTCATTAGCCTA CCCATCTACTCATCCATCACCTATCCATGCACTCACCCATTCACCTATCC ATCCACCCACCCACCTGCCTATCCACCCTCCCACCTATCCACCCACCCAC CTATCCATCTTCCCACCTATCCACCCACACACCTATCCACCCTCTCATCT ATCCACCCACCCACCCATCCACCCATATACTCACCATCTCACACACCCAT CCACTCATTAGCCCACCCACCTACCCATCCATCACCTATCTATCCACTCA CCCATTCACCTATCCATCCACCCACCCACCCACCTGCCTATCCACCCACC CGCCTATCCACCCTCCCGCCTATCCACCCTCCCACCTATCCACCCACCCA CCTATCCACCCACCCATCCACCTTCCCACCTATCCACCCACACACCTATC TACCCTCCCATCTATCCACCCACCCATACGCTAACCTTCTTGCACACCCA TCCACTCATGAGCCCACCCACCTACCCATCCGTCACCTATCCATCCACTC ACCCATTCACCTATCCATACACCCACCCACCCACCCACCTATCCACCCAC CCACCTATCCACCCTCCCACTTATCCACCCACCCACCTGCCCACCCACAC ACCTATCCACCCTCCCGTCTATCCACCCACCCACCCACCCATACACTCAC CCACTCACACACCCACCCATTAGCCCACCCACCTACCCATCCATCACCTA TGCATCCACTCACCCATTCACCTATCCAACCACCCACCCAACCCATCCAC CCACCCACTCACTCACTCCCTCCCTGATCTACCTATCCATTCACTCAGTC ATTAACCCACCCACCTATCCACCCACCTACCCACTCACTCATCCACCCAT CTGCCCACCCATCCACCCAGCCACCCATTTACTCACCCATTCAATCAATC ATCCCCTCATTAACTCACCTACCTACTCACCCATTTATCCATCTATCCAT TTACCCACCCACTCATCCACCCATTAATCCACCAGCTCATCCACCTACTG ACCCATCCACCCATTCATCCACCCATCCACCCACTCATCCACTCATCCAT CCATCTATCCATCCGTCCACCCATCCATCTCACTCCCATCCACCTACCCA TCCTCCT		APCDD1L	ENSG00000198768.11	transcript	ENST00000371149.8	protein_coding					4904		chr20	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1134): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGA AAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAGAAAGAAAGAGAA AGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0180 a0001c0004t0003g0180	1	258	0.0039	1141	c.403 others(1156): Show c.403-645_403-644insCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTT TCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTC TTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTC TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTT TTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTCTTT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CENPM_chr22_41933737_41952152	41939844	G G	GAAGAAAA others(1134): Show GAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAG AAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAG AAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAG AAAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	258	0.0039	1141	c.403 others(1156): Show c.403-649_403-648insTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CFAP61_chr20_20047532_20365698	20356388	T T	TAGTGTGA others(1134): Show TAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGG GAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCA CACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACACTGGGGAGGTCACACTGTGAGGGGAGGTGGTCACACTGA GAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTC ACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGA GGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACA CTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTGGTCACACTGTG AGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTG GTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAGTGG TCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAG TGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGCGAGTGGAGGTA GTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGTGGTCACACTGA GGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTGAGGGGAAGTGG TCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02280.hp1 HG02683.hp2 others(2): Show HG00408.hp1 HG02280.hp1 HG02683.hp2 NA18943.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0001c0001t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0223 others(2): Show a0001c0001t0001g0183 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0006t0001g0167 a0002c0002t0001g0072	5	236	0.0212	1141	c.351 others(1160): Show c.3514-3710_3514-3709insGTGGTCACACTGAGGGGAGGTGGTCA TAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGA GGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGGGGAGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAG GGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGT CACACTGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGG AGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGGGGAGGTG GTCACACTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACT GAGAGGAGGTGGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGTGGTCATACTGC GAGTGGAGGTAGTCACACTGTGAAGGGTGGTAGTCACACTGAGAGGAGGT GGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGGGGAAGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGG TCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGATGGTCACACTGAG GGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGT CACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGG GGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTC ACAGTGTGAGGGGAG		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1134): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGG GGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGT ACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAA TATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGG GCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAG TTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATAT GAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGG GGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0201 a0001c0003t0003g0201	1	272	0.0037	1141	c.109 others(1160): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTT ATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGG GGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAA TATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGG CGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTA TAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGG CGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTA GTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAAT ATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGG TAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATT TATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGG GGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGG GTGTAGTTTATAGAT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
DHRS2_chr14_23631364_23650639	23635507	C C	CAGAGATC others(1134): Show CAGAGATCTTTATTTTCTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTTTCACAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAT TATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTT CTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCT ACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGT GTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGG GTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGT GTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACC CAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGA GGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCAC CAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTT GTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATC TCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCAT TTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCT GTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGT AAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTAAACACCAA AAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTA AAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACC TACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	1141	c.-13 others(1152): Show c.-1304_-1303insAGAGATCTTTATTTTCTTTTTTTTTTTTTTTTTT TCTTTTTTTTTTTTTTTTTTTTCACAGTTCTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGT GTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAAT TTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGC ATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCA TTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCC GCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTC ATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTA GTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACT AGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCC TCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTG GTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCC AGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTC TTTTGAGAAGTGTCTGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGT TTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATT AGCCCTAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGG GATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAG AGTGAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCAT CTGACAA		DHRS2	ENSG00000100867.15	transcript	ENST00000250383.11	protein_coding					856		chr14	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1134): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGA GGAGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAG GAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGA GGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGA GGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGG GAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGA GGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGG GGGAGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0053 a0005c0053	a0005c0053t0001 a0005c0053t0001	a0005c0053t0001g0176 a0005c0053t0001g0176	1	252	0.0040	1141	c.118 others(1160): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCCTCCTCCCTCCTCCCTCCTCCTTCTCCCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCC TCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCC TCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCC CTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCC CCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCTCCTCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80						chr17	TogoVar
EXD3_chr9_137301896_137428162	137355647	G G	GATGGAGG others(1134): Show GATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAA GGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGA AGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGA AGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGG GAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGATG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0012 a0009c0008t0001g0012	1	82	0.0122	1141	c.757 others(1156): Show c.757+620_757+621insTCCTCCTTCCTCTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCA TCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCATCCTCCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCTTCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCT TCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTT CTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCC TCCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCAT		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21						chr9	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(1134): Show GGTGTGGGTGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGG AGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGG CGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGGGT GGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGG GGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGG AGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTG GCAGCGGTGTGGGTGGAGGCTGGGGTGGAGGGAGGCTGGTGGCAGCGGTG TGGATGGAGGCTGGGGTAGGGGAGGCTGGCGGCAGCAGCGGTGTGGGCGG AGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGG TGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGAGGGAG GCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTAGGGGAGGCTGGCGGCA GCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTG TGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGATGGAG GCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTG AGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGAGGCTGGTGGCAGC GGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0232 a0001c0001t0003g0233	2	418	0.0048	1141	c.119 others(1160): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCTGCCAGCCTCCCCTCA CCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCT CCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGCCTCCACCCA CACCGCTGCCACCAGCCTCCCTCCACCCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCT CCCCTCACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTA CCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCTCCACCCCAGCCT CCACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACA CCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCA CCAGCCTCCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCC CCCCACCCCAGCCTCCACCCACACCACTGCCACCAGCCTCCCCTCACCCA GCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCACC CACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCACCCACACCG CTGCTGCCACCAGCCTCCCCCACCCCAGCCTCCCCTCACCCCAGCCTCCA CCCACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACTGCTGCCACCAGCC TCCTCTCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGCC ACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTC CCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCTCTCACCCC AGCCTCCACCCACAC		FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1						chr12	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(1134): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02965.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0027 a0004c0005t0002g0030 a0004c0005t0002g0033 a0004c0005t0002g0027 a0004c0005t0002g0030 a0004c0005t0002g0033	3	268	0.0112	1141	c.-28 others(1152): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATAT AGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATAT TAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGT AACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA TAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAA		GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding					2351		chr4	TogoVar
GTPBP6_chrX_299759_323796	316300	A A	AGACACAC others(1134): Show AGACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAA CACATCCCGGCAGGGACACAAACACATACACACGCAGACACACACACACA CACACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAA CACATACATACGCAGACACACACACACACAAACACACACACACACAGTAA ATACATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTA AATGCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGG ACAGACACAGACACACAGACACACACACAGGGTAAACACATCCTGACGGA CACACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAAC ACACACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACA CACACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACAC ACACACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGG GACAGACATACACACACACACACACACACGCAGACACACAGAGACACACA CACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACAC ACAGACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACA CAGACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACA CAGAGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAA ACACATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGAC ACACACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACA CACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGAC ATGCGCAGACACACAGACACACACACACACAGACACACACAGTAACACAT CCCAACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACA CACACACACAGACACAAACACAGCGTAACACATCCCGACAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	155	0.0065	1141	c.487 others(1156): Show c.487+613_487+614insCCTGTCGGGATGTGTTACGCTGTGTTTGTG TCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTGTCT GTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTCTGT GTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTG AGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTG TTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTCCCT GTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTACTG TGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCTGCG CATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTGTCT GTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGATGT GTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGTGTG TGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTGTGT CTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGTGTG TGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTGTGT CTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGTCTG TGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTGTGT GTCTGTGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGTCCG TCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTCCCT GTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTCTG CGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTGTGT GTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTT TGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCC TGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGT GTGTGTGTGTC		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9						chrX	TogoVar
GTPBP6_chrX_299759_323796	316301	G G	GACACACA others(1134): Show GACACACACACACAGACACACACACAGAGACACACACAAACACAGTAAAC ACATCCCGGCAGGGACACAAACATACACACGCAGACACACACACACACAC ACACACACAAACACACAGTAAATACATCCCGACAGGGACAGACACACACA CAGAGACACACACAAACACAGTAAACACATCCCGGCAGGAACACAAACAC ATACATACGCAGACACACACACACACAAACACACACACACACAGTAAATA CATCCCGACAGGGACAGACACACACACACACACAGACACACACAGTAAAT GCATCCCGACGGACAGACACACATACAGAGTAAACACATCCCGATGGACA GACATAGACACACAGACACACACACAGGGTAAACACATCCTGACGGACAC ACACACACACAGACACACACAGTAAACACATCCCAATGGACACAAACACA CACATGCAGACACACAGAGTAAACACATCCTGACAGGGACACACACACAC ACGCAGACACACACACAGTAAACACATCCCAACAGGGACGCAGACACACA CACATGCAGACACACAGAGACACACACAGTAAACACATCCTGACAGGGAC AGACATACACACACACACACACACACGCAGACACACAGAGACACACACAC ACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACACA GACACACACAGACACACTCAGTAAACACATCCCAACAGGGACAGACACAG ACAGACATGCGCAGACACACAGACACACACAGAGAGACACACACACACAG AGACACACACAGTAACACATCCCAACAGGGACAGACACACACAGTAAACA CATCCCAACAGGGACGCAGACACACACACATGCAGACACACAGAGACACA CACAGTAAACACATCCCGACAGGGACAGACACAGACACACAGACACACAC AGACACACTCAGTAAACACATCCCAACAGGGACAGACACAGACAGACATG CGCAGACACACAGACACACACACACACAGACACACACAGTAACACATCCC AACAGGGACAGACACACATGCACGGAGAACACAGCTGGTGGAACACACAC ACACACAGACACAAACACAGCGTAACACATCCCGACAGGGAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0079 a0002c0005t0001g0079	1	155	0.0065	1141	c.487 others(1156): Show c.487+612_487+613insGTCCCTGTCGGGATGTGTTACGCTGTGTTT GTGTCTGTGTGTGTGTGTGTTCCACCAGCTGTGTTCTCCGTGCATGTGTG TCTGTCCCTGTTGGGATGTGTTACTGTGTGTGTCTGTGTGTGTGTGTGTC TGTGTGTCTGCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTA CTGAGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGAT GTGTTTACTGTGTGTGTCTCTGTGTGTCTGCATGTGTGTGTGTCTGCGTC CCTGTTGGGATGTGTTTACTGTGTGTGTCTGTCCCTGTTGGGATGTGTTA CTGTGTGTGTCTCTGTGTGTGTGTGTCTCTCTGTGTGTGTCTGTGTGTCT GCGCATGTCTGTCTGTGTCTGTCCCTGTTGGGATGTGTTTACTGAGTGTG TCTGTGTGTGTCTGTGTGTGTCTGTGTGTCTGTGTCTGTCCCTGTCGGGA TGTGTTTACTGTGTGTGTGTGTCTCTGTGTGTCTGCGTGTGTGTGTGTGT GTGTGTATGTCTGTCCCTGTCAGGATGTGTTTACTGTGTGTGTCTCTGTG TGTCTGCATGTGTGTGTGTCTGCGTCCCTGTTGGGATGTGTTTACTGTGT GTGTGTCTGCGTGTGTGTGTGTGTCCCTGTCAGGATGTGTTTACTCTGTG TGTCTGCATGTGTGTGTTTGTGTCCATTGGGATGTGTTTACTGTGTGTGT CTGTGTGTGTGTGTGTCCGTCAGGATGTGTTTACCCTGTGTGTGTGTCTG TGTGTCTATGTCTGTCCATCGGGATGTGTTTACTCTGTATGTGTGTCTGT CCGTCGGGATGCATTTACTGTGTGTGTCTGTGTGTGTGTGTGTGTCTGTC CCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGT CTGCGTATGTATGTGTTTGTGTTCCTGCCGGGATGTGTTTACTGTGTTTG TGTGTGTCTCTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGT GTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTTTGTGTCC CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG TGTGTGTGTGT		GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9						chrX	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1134): Show TAATATAATATGTATTTTATATATTGTATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATAATATATAATATAATATATAATATAATATATAATATATAATATATTA TATAATATATAATATAATATATAATATAATATATAATATAATATATAATA TAATATATAATATATAATATATAATATAATATATAATGTAATATATAATA TATAATATATAATATAATATATAATATATAATATATAATATAATATATAA TATATAATATGTAATATAATATATAATATATAATATATAATATAATATAT AATATACAATACATAATATATAATGTATAATATAATATATAATATAATAT AAAATATATAATATATAATATATAATATTATATATTTTATATATGCATTT CTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGC AGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAAT GTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTG CCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCT AAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCA CACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAAT GGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACC AAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAG TTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCA TTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTG GGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGC TGGGTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTAT ATATTATTTTATATGTGATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0200 a0001c0002t0035g0200	1	366	0.0027	1141	c.-36 others(1152): Show c.-3629_-3628insAATATAATATGTATTTTATATATTGTATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATAATATATAATATAATATATAATATAATATATA ATATATAATATATTATATAATATATAATATAATATATAATATAATATATA ATATAATATATAATATAATATATAATATATAATATATAATATAATATATA ATGTAATATATAATATATAATATATAATATAATATATAATATATAATATA TAATATAATATATAATATATAATATGTAATATAATATATAATATATAATA TATAATATAATATATAATATACAATACATAATATATAATGTATAATATAA TATATAATATAATATAAAATATATAATATATAATATATAATATTATATAT TTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCC ACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCT TTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGT GAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTC TCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAG ATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAAC ATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCT GACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACT CTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCAT GCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTC CATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTG TCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATA TGATATATATTTTATATATTATTTTATATGTGATATATATTTTATATATC TATACAA		IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding					2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1134): Show TAATATAATATGTATTTTATATATTGTATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATAATATATAATATAATATATAATATAATATATAATATATAATATATTA TATAATATATAATATAATATATAATATAATATATAATATAATATATAATA TAATATATAATATATAATATATAATATAATATATAATGTAATATATAATA TATAATATATAATATAATATATAATATATAATATATAATATAATATATAA TATATAATATGTAATATAATATATAATATATAATATATAATATAATATAT AATATACAATACATAATATATAATGTATAATATAATATATAATATAATAT AAAATATATAATATATAATATATAATATTATATATTTTATATATGCATTT CTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGC AGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAAT GTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTG CCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCT AAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCA CACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAAT GGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACC AAAATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAG TTCATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCA TTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTG GGTGGCTGATCATCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGC TGGGTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTAT ATATTATTTTATATGTGATATATATTTTATATATCTATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0058 a0003c0007t0001g0058	1	348	0.0029	1141	c.87 others(1150): Show c.879_*880insAATATAATATGTATTTTATATATTGTATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATAATATATAATATAATATATAATATAATATATAAT ATATAATATATTATATAATATATAATATAATATATAATATAATATATAAT ATAATATATAATATAATATATAATATATAATATATAATATAATATATAAT GTAATATATAATATATAATATATAATATAATATATAATATATAATATATA ATATAATATATAATATATAATATGTAATATAATATATAATATATAATATA TAATATAATATATAATATACAATACATAATATATAATGTATAATATAATA TATAATATAATATAAAATATATAATATATAATATATAATATTATATATTT TATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCAC TGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTTT TCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGA GCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTC AGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGAT GCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACAT ACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGA CCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTCT TCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATGC AACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCCA TCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGTC CTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATATG ATATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCTA TACAA		IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding					764		chr2	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(1134): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATATAGTTA GTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATA TATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAG TAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTA ATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTT AGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	3	422	0.0071	1141	c.195 others(1158): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATAT TATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAG TTACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATAT TAATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAA CTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTA ATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACT ATATATTAATATACTAACTATATTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATATACTAACTATAT TAATATAGTTACT		NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17						chr4	TogoVar
PGAP6_chr16_365788_386978	370311	C C	CCCTACCC others(1134): Show CCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCA CCCCCGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTTCTACCCCGGCCCCCGGCTCTCACCTTCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCGCTACCCCTGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCCTGCCCC CGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCC CCCGGCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCTCTCACCTTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCCCCTACCCCGGCCCCCGGCACTCACCCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGC TACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCC CCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGC ACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCG GCTCTCATCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC CGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCATCTCCTACCCCGGCC CCCGGCTCTCATCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCTCTCATCTCCTACCCCGGCCCCCGGCTCTCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0008 a0004c0006t0008	a0004c0006t0008g0164 a0004c0006t0008g0164	1	376	0.0027	1141	c.16 others(1152): Show c.1675_*1676insAGGTGAGAGCCGGGGGCCGGGGTAGGAGATGAGA GCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGAGATGA GAGCCGGGGGCCGGGGTAGGAGATGAGAGCCGGGGGCCGGGGTAGGGGGT GAGTGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAG ATGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGG GGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTA GAAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGG TAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCC GGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGG GGCCGGGGTAGGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGGTGAGAGC CGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGAAGGTGAGA GCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGA GTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGT GAGAGCCGGGGGCAGGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGG GGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTA GCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGG TAGGGGGTGAGAGCCGGGGGCCGGGGTAGAAGGTGAGAGCCGGGGGCCGG GGTAGAAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCA GGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GGCGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGG		PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding					476		chr16	TogoVar

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Search Results (Total: 10000 hits)