Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN11_chr6_44153820_44189401	44182049	A A	ACACACAC others(501): Show ACACACACACATACAGACACAACCACACCACACACACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACACATACAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACATACACAC TCACATACAGACACAACCACACCACACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACTCACATACAGACACAACCACACCACACAC ACACACACT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	460	0.0022	508	c.193 others(525): Show c.1938+733_1938+734insCACACATACAGACACAACCACACCACAC ACACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACATACACACTCACATACAGACACAACCACACCACACACACAC ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACACACACACACTCACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC88C_chr14_91266323_91422820	91293493	T T	TCCTCACC others(501): Show TCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAG CTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCC CATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCA CCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTACC TTCCTGTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01168.hp1 others(1): Show HG00735.hp1 HG01081.hp1 HG01168.hp1 HG01257.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0025 a0001c0001 a0014c0025	a0001c0001t0001 a0014c0025t0001 a0001c0001t0001 a0014c0025t0001	a0001c0001t0001g0059 a0001c0001t0001g0100 a0014c0025t0001g0023 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0100 a0014c0025t0001g0023 a0014c0025t0001g0171	4	284	0.0141	508	c.411 others(525): Show c.4112+679_4112+680insGGACAGGAAGGTAGGCCGTGGCAGGTGA GGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGA GCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGG GTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTG TGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGT GAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGA GGATGGGAAAGTGAGCTGTGGCGGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCACCA others(501): Show ACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTCTCACCT GCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATTCTCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTC ACCTTCCCATTCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCAC CTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCT GTCCCCTCG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0165 a0001c0007t0001g0165	1	284	0.0035	508	c.411 others(525): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGGGCCGTGGCA GGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCAGGTGAGAA TGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGT GGCACGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGG AAGGTGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGTGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(501): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTA TATACTATATATACACTATATACACACTATATATAGCATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATACATACAC TATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATA CTATATATAGTAGTTATATATACTATATATACTATATATAGTATATATAT ACTATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	396	0.0025	508	c.349 others(523): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTACATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACAACTATATATAGTA TATACTATATATACACTATATACACACTATATATAGCATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATACATACAC TATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATA CTATATATAGTAGTTATATATACTATATATACTATATATAGTATATATAT ACTATATATACTATATATAGTAGTTATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(501): Show CACTATATATAGTAGTTATATATACACTATATAATAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAG TTATATATACTACTATATATACTACTATATATAGTATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATACACTATATATAGCATATATACTATAT ATACACTATATATAGTAGTTATATATACTATATATACACTATACATACAC TATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATA GTATATATAGTATATATAAACTATATATACTATATATAGTTTATATATAA ACTATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp2 NA18906.hp1 others(1): Show HG03209.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0014 a0001c0003t0015 a0001c0003t0005 a0001c0003t0014 a0001c0003t0015	a0001c0003t0005g0233 a0001c0003t0014g0076 a0001c0003t0014g0346 others(1): Show a0001c0003t0005g0233 a0001c0003t0014g0076 a0001c0003t0014g0346 a0001c0003t0015g0260	4	396	0.0101	508	c.349 others(523): Show c.349+948_349+949insTACACTATATAATAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTTTATATATACTATATATAAACTATATATAGTAGTT ATATATACTACTATATATACTACTATATATAGTATATACTATATATACAC TATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACACTATATATAGCATATATACTATATAT ACACTATATATAGTAGTTATATATACTATATATACACTATACATACACTA TATATAGTTTATATATACTATATATAGTAGTTATATATACTATATATAGT ATATATAGTATATATAAACTATATATACTATATATAGTTTATATATAAAC TATATATACTATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDHR2_chr5_176544342_176600824	176592096	A A	ATGGTGGT others(501): Show ATGGTGGTGGTGATGGTGATGGTAGTGATGGTGATGGTGGTGATGATGGT GATGATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGG TGTTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGATGA CGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGATGATGACGGTGGTGGTGGTGGTG GTGGTGTTGGTGTTGAGGTGATGGTGGTGATGGTAGTGGTGGTGGGTGAT GGTGGTGGCAATGGTGATGGTGGTGGTCATGGTGGTCATGGTAGTGGTGG CAGTTATTG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0001 a0001c0038t0001	a0001c0038t0001g0152 a0001c0038t0001g0152	1	344	0.0029	508	c.373 others(525): Show c.3735-530_3735-529insGTGATGGTTGTGATGGTGATGGTGGTGA TGATGGTGATGATGACGATGGTGGTGTTGGTGGTGTTGGTGTTGAGGTGA TGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGG TGATGGTGATGGTGGTGATGATGACGATGGTGGTGATGATGGTGTTGGTG TTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTG GTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTG ATGATGACGGTGGTGGTGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTG GTGATGGTAGTGGTGGTGGGTGATGGTGGTGGCAATGGTGATGGTGGTGG TCATGGTGGTCATGGTAGTGGTGGCAGTTATTGTGGTGGTGGTGATGGTG ATGGTAGTGATGGTGATGGTGGTGATGATGGTGATGATGACAATGATGAT GGTGGTGGTGGTGTTGGTGTTGAGGTGATG	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(501): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGAAGGGTTTGTGGATGAATGGGTGGATGGATGG ATGGGTGTGTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGATGGGTGAGTGGG TGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGGGTGGATAGGTGG GTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGGGTGTGTATTTGG GTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAATAGGTGGGTGGGT GGATGGATGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGG GTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGTGGATGGGTGGAT GAGTGGATGGGTGGATGGATGTGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03471.hp1 HG02615.hp2 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0005g0009 a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0005g0009	3	262	0.0115	508	c.259 others(527): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGAAGGGTTTGTGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGATGGGTGGATGGGTGGATGAATGATG GGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAA TTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGT GAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGG ATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAAT AGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGG GTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGATGTGTGGATGGGT GGGTGGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELF5_chr19_3219661_3302076	3235518	A A	ATGGATTG others(501): Show ATGGATTGGTGGATGGATGAATGTGTGGACAGATGGATGGGTGGATGGAT GAATGGGTGGATGGATGGATGGGTGTGTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATAGAAGGGTGGGTAGGAGGATGAGTGGAT GGATGGGTGGATGGATAGATGGGTGGATGGGTGGATGAATGATGGGTGGA TGGGTGAGTGGGTGGATATATGGGTGGGTGGATTGGTGAATGAATTGTGG GTGGATAGGTGGGTGGGTGGATGGGTGGATGGTGGGTGGTGGGTGAATGG GTGTGTATTTGGGTGAGTGAGTAGGTGGATGGATGGATGGGTGGATGAAT AGGTGGGTGGGTGGATGGATGAATGAATGGATGGATGGATGAATAGGTGG GTGGGTGGATGGGTGAATGAATGGATGGATGGATGAATAGGTGGGTGGGT GGATGGGTGGATGAGTGGATGGGTGGATGGGTGGGTGGATGGATGAATGA ATGGATGGG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	262	0.0038	508	c.259 others(527): Show c.259+10525_259+10526insTGGTGGATGGATGAATGTGTGGACAG ATGGATGGGTGGATGGATGAATGGGTGGATGGATGGATGGGTGTGTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAAGGGTGG GTAGGAGGATGAGTGGATGGATGGGTGGATGGATAGATGGGTGGATGGGT GGATGAATGATGGGTGGATGGGTGAGTGGGTGGATATATGGGTGGGTGGA TTGGTGAATGAATTGTGGGTGGATAGGTGGGTGGGTGGATGGGTGGATGG TGGGTGGTGGGTGAATGGGTGTGTATTTGGGTGAGTGAGTAGGTGGATGG ATGGATGGGTGGATGAATAGGTGGGTGGGTGGATGGATGAATGAATGGAT GGATGGATGAATAGGTGGGTGGGTGGATGGGTGAATGAATGGATGGATGG ATGAATAGGTGGGTGGGTGGATGGGTGGATGAGTGGATGGGTGGATGGGT GGGTGGATGGATGAATGAATGGATGGGTGGAT	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(501): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTCCGTCCCCCTTCCTCC CTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCC CCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCT TCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCC CCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTA TCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0003 a0002c0001t0002g0003	1	354	0.0028	508	c.69 others(519): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCACCCT TCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(501): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTC TTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCC CTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCT CCCTTATCCCTCCTTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCCT TCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCC TTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	354	0.0028	508	c.69 others(519): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTTCCCTTCCCCCTTCCACCCTT CCCCCTTACCCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCC CTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP97D2_chr13_114174257_114228085	114199336	C C	CGTGACGG others(501): Show CGTGACGGCGCGTCCCCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAAGGGTGACGGCGCGTCCCCGTG TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCC CGCTGAGGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	400	0.0025	508	c.172 others(523): Show c.172-970_172-969insCGTACGGTCCCCGCTGAGGGGTGACGGCGC GTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCG TACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCG CTGAGGGGTGACGGCGCGTCCCCGTGCGTACGGTCCCCCGCTGAGGGGTG ACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGAGGGGTGACGGCGCGTCC CCGTGCGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGTGTACG GTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCCCGCTGA GGCGTGACGGCGCGTCCCCGTGTGTACGGTCCCCGCTGAGGGGTGACGGC GCGTCCCCGTGCTTACGGTCCCCGCTGAAGGGTGACGGCGCGTCCCCGTG TGTACGGTCCCCGCTGAGGGGTGACGGCGCGTCCCCGTGCTTACGGTCCC CGCTGAGGGGTGACGGCGCGTCCCCGTG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(501): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC ATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACAC GTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATAT ACATGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	372	0.0027	508	c.894 others(523): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATGAGTATATATACGTGTATATACACACATGTA TATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACG TGTATATACACACATGTATATGAGTATATATACGTGTATATACACACATG TATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(501): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03490.hp2 HG03704.hp2 HG01928.hp2 HG03490.hp2 HG03704.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0002 a0008c0012t0002 a0001c0001t0002 a0008c0012t0002	a0001c0001t0002g0193 a0001c0001t0002g0196 a0008c0012t0002g0197 a0001c0001t0002g0193 a0001c0001t0002g0196 a0008c0012t0002g0197	3	372	0.0081	508	c.894 others(523): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATAT ACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGA GTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTAT ATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATAT GAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGT ATATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(501): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGGA GTTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAAAT AAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTCC CAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	392	0.0026	508	c.-23 others(519): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTTATTTTTTGTGGAGACGGGGTTTAGC TATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTC CTTGGCCTCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCC TATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTCA GTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTCT GTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTCA CCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGAG ACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTCAA GCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
CKM_chr19_45301413_45327875	45325126	A A	AAGGAGGC others(501): Show AAGGAGGCTGAGGCAGGAGGATTGCTTGAGCTCAGGAGTTCAAGACCACC CTGGCCAACGCGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCC GGACATGGTGGGACACACCTATAGTCTCAGCTACTCAGGAGGCCGAGATG GGAGGATCACTTGAGCCTGGGGAGGTGAGGCTGCGGTGAGCTGTGATCGC ACTGCTGCACTCCAGCCTTGGTGACAGAGCGAGACTGTGTCTAAAAAAAA AACAAAAAACAAAAAACAATTGAACTGAGGGAGACAGAGCAGAAGGATGG ACTCCAGAGCCTGAGAAGGGTAATAGGCCAGGTGCAGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCAAGGAGGAAGGATCCCTTGAGCCCAGG AGTTAGAGACTAGCCTCGGCAACATAGCTAAACCCCGTCTCCACAAAAAA TAAAAAAACTACAAAAATTATCTGGGCGTAGTGGAGTGCATCTGTGGTCC CAGCTACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0040 a0001c0004t0001g0040	1	392	0.0026	508	c.-23 others(519): Show c.-2325_-2324insGAGTAGCTGGGACCACAGATGCACTCCACTACGC CCAGATAATTTTTGTAGTTTTTTTATTTTTTGTGGAGACGGGGTTTAGCT ATGTTGCCGAGGCTAGTCTCTAACTCCTGGGCTCAAGGGATCCTTCCTCC TTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCTGGCC TATTACCCTTCTCAGGCTCTGGAGTCCATCCTTCTGCTCTGTCTCCCTCA GTTCAATTGTTTTTTGTTTTTTGTTTTTTTTTTAGACACAGTCTCGCTCT GTCACCAAGGCTGGAGTGCAGCAGTGCGATCACAGCTCACCGCAGCCTCA CCTCCCCAGGCTCAAGTGATCCTCCCATCTCGGCCTCCTGAGTAGCTGAG ACTATAGGTGTGTCCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGA GACAGGGTTTCACCGCGTTGGCCAGGGTGGTCTTGAACTCCTGAGCTCAA GCAATCCTCCTGCCTCAGCCTCCT	CKM	ENSG00000104879.5	transcript	ENST00000221476.4	protein_coding		2252		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133824	T T	TCTCCCTC others(501): Show TCTCCCTCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCC ACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCACCTTCCCCTCTCTCC CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCA CCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCT CCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCAC CTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	223	0.0045	508	c.-42 others(519): Show c.-4220_-4219insCTCCCTCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCC CTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCC ACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTCCA CCTTCCCCTCTCTCCCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCT CTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCAC CTTCCCTGTCTCCACCTCCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3937		chr19	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(501): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATCATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG00741.hp1 others(13): Show HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01167.hp2 HG01496.hp1 HG01978.hp2 HG02165.hp2 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG03688.hp1 NA19005.hp1 NA19005.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0015 a0005c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016 a0001c0005t0003 a0001c0005t0007 a0001c0007t0035 a0001c0008t0004 a0001c0015t0004 a0005c0013t0002	a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0006g0149 others(13): Show a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0009g0134 a0001c0002t0002g0061 a0001c0002t0002g0174 a0001c0002t0008g0091 a0001c0002t0016g0154 a0001c0005t0003g0102 a0001c0005t0003g0155 a0001c0005t0007g0145 a0001c0007t0035g0157 a0001c0008t0004g0141 a0001c0015t0004g0105 a0005c0013t0002g0171	16	182	0.0879	508	c.267 others(525): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(501): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 NA19064.hp1 HG03490.hp2 HG03492.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0031 a0001c0001t0004 a0001c0001t0031	a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0031g0075 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0031g0075	3	272	0.0110	508	c.925 others(523): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(501): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03041.hp2 HG02622.hp1 HG03041.hp2	a0001 a0001	a0001c0024 a0001c0049 a0001c0024 a0001c0049	a0001c0024t0001 a0001c0049t0003 a0001c0024t0001 a0001c0049t0003	a0001c0024t0001g0207 a0001c0049t0003g0183 a0001c0024t0001g0207 a0001c0049t0003g0183	2	272	0.0074	508	c.925 others(523): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(501): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	264	0.0038	508	c.19 others(519): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TGTACATA others(501): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTACATATATGTGTATATATGTATATACA CATATATATGTGTACATATATGTGTATATATGTATATACACATATATATG TGTATATATGTATATACACATATATATGTGTACATATATGTGTGTATATG TGTGTATATATACATATATGTGTATATACGTATATACACATGTGTATATA CGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	272	0.0037	508	c.19 others(519): Show c.1988_*1989insGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTACATATATGTGTATATATGTATATACACATAT ATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGTAC ATATATGTGTATATATGTATATACACATATATATGTGTACATATATGTGT ATATATGTATATACACATATATATGTGTACATATATGTGTATATATGTAT ATACACATATATATGTGTATATATGTATATACACATATATATGTGTACAT ATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTATAT ACACATGTGTATATACGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DLGAP2_chr8_732628_1713476	1417680	G G	GGGGGGCA others(501): Show GGGGGGCACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGG GGGCACGGGGAGGCCACACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGG CACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCACG GGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGA GGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCACGGGGAGCCC CACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCTCAC TCCTGCCTCACTCAGCGAGGCTCCAGGGGGCACGGGGAGCCCCACTCCTG CCTCACTCAGCGAGGCTCCAGGGGGCCACGGGGAGCCCCACTCCTGCCTC ACTCAGCGAGGCTCCAGGGGGGCACAGGGGGCCCCACTCCTGCCTCACTC AGCGAGGCTCCAGGGGGGCACGGGGAGGCCCCACTCCTGCCTCACTCAGC GAGGCTCCA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0038 a0002c0001t0007g0038	1	40	0.0250	508	c.107 others(527): Show c.107-83678_107-83677insGGGGAGGCCTCACTCCTGCCTCACTC AGCGAGGCTCCAGGGGGGCACGGGGAGGCCACACTCCTGCCTCACTCAGC GAGGCTCCAGGGGGGCACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAG GCTCCAGGGGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCC AGGGGGGCACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGG GGGCACGGGGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGC ACGGGGAGGCCTCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCACGG GGAGCCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGCCACGGGGAG CCCCACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACAGGGGGCCCC ACTCCTGCCTCACTCAGCGAGGCTCCAGGGGGGCACGGGGAGGCCCCACT CCTGCCTCACTCAGCGAGGCTCCAGGGGGCAC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM167A_chr8_11416476_11471753	11455178	C C	CTGTGTGA others(501): Show CTGTGTGAGTGTGGGTGGTGGTTGCCTTGCTCTGTGTGTGTGTGTGACTG TGGTGGGGTTGTTGCCTTGCTGTGTGAGTGTGGGTGGTGGTTGCCTTGCT CTGTGTGTGTCTGGGGGGGGTGGTTACCCTCCTGGGTGTGTGTGAGTGTG GGGGGTGGTTGCCTTGCTGTGTATGAGTATGAGGAGTGTGAGTGTGGGAT GGTTGCCTTGCGTGAGTGTGATTGTGAGTGTGGGGGGTGGCTGCTCTGCT GGGTGTGTGTGAGTGTGGGGGGTGGCTGCTCTGCTGGGTATGTGTGAGTG TGGGGAGTGGTTGCCCGCTCTTGCCTTTCCAGCCTCATCTGCATTCCAAG CCTTGGTCAGAGCCGGTGTCAGGAGCCCTGACATGGAGATGACATCCTGC CGAGACCTGACCCCGGCCCCAGTGCTGCACGTGGCAGGGATGGGTTGCTG GGATATGTGTGTGTGCGTGTGTGTGTGTGTGACTGTGGTGGGGTTGTTGC CTTGCTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01167.hp2 HG01168.hp2 others(1): Show HG01071.hp2 HG01167.hp2 HG01168.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0034 a0001c0001t0001 a0001c0001t0034	a0001c0001t0001g0006 a0001c0001t0034g0225 a0001c0001t0001g0006 a0001c0001t0034g0225	4	374	0.0107	508	c.-39 others(529): Show c.-397-10371_-397-10370insCACAGCAAGGCAACAACCCCACCA CAGTCACACACACACACACGCACACACACATATCCCAGCAACCCATCCCT GCCACGTGCAGCACTGGGGCCGGGGTCAGGTCTCGGCAGGATGTCATCTC CATGTCAGGGCTCCTGACACCGGCTCTGACCAAGGCTTGGAATGCAGATG AGGCTGGAAAGGCAAGAGCGGGCAACCACTCCCCACACTCACACATACCC AGCAGAGCAGCCACCCCCCACACTCACACACACCCAGCAGAGCAGCCACC CCCCACACTCACAATCACACTCACGCAAGGCAACCATCCCACACTCACAC TCCTCATACTCATACACAGCAAGGCAACCACCCCCCACACTCACACACAC CCAGGAGGGTAACCACCCCCCCCAGACACACACAGAGCAAGGCAACCACC ACCCACACTCACACAGCAAGGCAACAACCCCACCACAGTCACACACACAC ACAGAGCAAGGCAACCACCACCCACACTCACACA	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FMN2_chr1_240086883_240480187	240184928	A A	ACTTTCTC others(501): Show ACTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAACTTC CCCTTCTCTTTCTCCCTCCTATAACTTCCCCTTCTCTTTCTCCCTCCTAC ACCTTTCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0066 a0066	a0066c0107 a0066c0107	a0066c0107t0001 a0066c0107t0001	a0066c0107t0001g0134 a0066c0107t0001g0134	1	174	0.0058	508	c.193 others(527): Show c.1931-3235_1931-3234insACTTCCCCTTCTCTTTCTCCCTCCTA TAACTTCCCCTTCTCTTTCTCCCTCCTACACCTTTCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCT TCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATA	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GABRA3_chrX_152161234_152456315	152182738	C C	CACTATAT others(501): Show CACTATATATACACTATATATGTATAGTATATATACACTATATATAGTAT ATATACACTATATATATAGTGTATATACACTATATATATAGTATATATAC ACTATATATATAGTATATATACACTATATATACACTATATATGTATATAT ATACATATATAGTGTATATATAGTGTATATATACACTGTATATGTATATA TAGTGTATATATACACTATATATACACTGTATATGTATATATAGTGTATA TATACACTATACACTGTATATGTATATATAGTGTATATATACACTATACA CTGTATATGTATATATAGTGTATATATACACTATACACTGTATATGTATA TATAGTGTATATATACACTATACACTGTATATGTATATATAGTGTATATA TACACTATATATACACTATATAGTGTATATATAGTATATATATACTGTAT ATATATACTATATATACACTATATAGTGTATATATAGTATATATATACAG TATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	204	0.0049	508	c.114 others(527): Show c.1143+6991_1143+6992insATATATATACTGTATATATATACTAT ATATACACTATATAGTGTATATATAGTATATATATACAGTATATATATAC TATATATACACTATATAGTGTATATATAGTGTATATATACACTATATATA CATATACAGTGTATAGTGTATATATACACTATATATACATATACAGTGTA TAGTGTATATATACACTATATATACATATACAGTGTATAGTGTATATATA CACTATATATACATATACAGTGTATAGTGTATATATACACTATATATACA TATACAGTGTATATATAGTGTATATATACACTATATATACATATACAGTG TATATATACACTATATATACACTATATATGTATATATATACATATATAGT GTATATATAGTGTATATATACTATATATATAGTGTATATATACTATATAT ATAGTGTATATACACTATATATATAGTGTATATATACTATATATAGTGTA TATATACTATACATATATAGTGTATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GMDS_chr6_1618806_2250605	1927268	T T	TTTTTATT others(501): Show TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCG TGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAAAGGGTAGCG TGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCAG AGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTAT TTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGGT GTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAG AGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGCTGTAT TTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGT GTTGGTGTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	166	0.0060	508	c.771 others(525): Show c.771+2834_771+2835insTACACCAACACGCTACCCTCTGAATCAA AATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAACACGCTACCC TCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAA CACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCTCTGAATAAA AATACACCAACACGCTACCCTCTGAATAAAAATACACCAACATGCTACCC TCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAAATACACCAA CATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTTTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(501): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG AGACGGAGC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00673.hp1 others(30): Show HG00408.hp1 HG00408.hp2 HG00673.hp1 HG00735.hp2 HG01123.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02738.hp2 HG03669.hp1 HG03710.hp2 NA18950.hp1 NA18957.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18981.hp1 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA19057.hp2 NA19058.hp1 NA19070.hp1 NA19075.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA20805.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0006c0015t0001	a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 others(28): Show a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0085 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0264 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0354 a0001c0001t0001g0377 a0001c0001t0001g0400 a0001c0001t0001g0411 a0001c0001t0001g0414 a0001c0002t0001g0030 a0001c0002t0001g0333 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0353 a0001c0002t0001g0363 a0001c0002t0001g0384 a0001c0003t0001g0347 a0006c0015t0001g0294	33	450	0.0733	508	c.146 others(525): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCCAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTTCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACG GAGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145577	T T	TCTCACTC others(501): Show TCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACT GCAACCTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGA GTAGCTGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATT TTTAGTAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAAC TCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATT ACAGGCATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAAT ACTCAGCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTG ATCAAAAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCA ATTTGCCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAA AAGCCTTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGG AGACGGAGC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00741.hp1 HG01069.hp2 others(24): Show HG00609.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01496.hp2 HG01517.hp2 HG01975.hp1 HG02055.hp2 HG02071.hp1 HG02615.hp2 HG02622.hp2 HG03017.hp1 HG03098.hp1 HG03486.hp1 HG03710.hp1 HG04115.hp2 HG04204.hp1 NA18967.hp1 NA18994.hp1 NA19002.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0067 others(23): Show a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0188 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0323 a0001c0001t0002g0419 a0001c0001t0002g0424 a0001c0001t0002g0425 a0001c0002t0001g0003 a0001c0002t0001g0025 a0001c0002t0001g0096 a0001c0002t0001g0158 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0003t0001g0029 a0001c0003t0001g0113 a0001c0004t0001g0249	27	450	0.0600	508	c.146 others(525): Show c.146-2988_146-2987insCAGTGGTGTGATCTCGGCTCACTGCAAC CTCTGCCTCCTAGGTTGAAGCAATTTTCCTGCCTCAGCCTCCCGAGTAGC TGGGATTACTGGCGCCCACGACCACGCCCAGCTAATTTTTGTATTTTTAG TAGTAATTTTTGTATTTCACCATATTGGTCAGGCTGGTCTCGAACTCCTG ACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CATGAGCCACTGTGCCTGGCCCCTGATACCTTTTCCTCCCTAAATACTCA GCGAGTTTGAGTTGCACTGAGAAGGAAAAACACTGCGGGACCTTGATCAA AAGCATGACACAGTGCCCTCCGCTAACACACAGTCCTGATTTGCAATTTG CCAGTTTTCCCAATTTCCGTGTGAATGTCCTTTACAGCAAGAGAAAAGCC TTTTTCTTTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACG GAGCCTCACTCTGTCACCCAGGCTGGAGTG	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPRIN1_chr5_176590802_176615156	176592096	A A	ATGGTGGT others(501): Show ATGGTGGTGGTGATGGTGATGGTAGTGATGGTGATGGTGGTGATGATGGT GATGATGACAATGATGATGGTGGTGGTGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGG TGTTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGG TGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGATGA CGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGATGATGACGGTGGTGGTGGTGGTG GTGGTGTTGGTGTTGAGGTGATGGTGGTGATGGTAGTGGTGGTGGGTGAT GGTGGTGGCAATGGTGATGGTGGTGGTCATGGTGGTCATGGTAGTGGTGG CAGTTATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	397	0.0025	508	c.47 others(519): Show c.4711_*4712insCAATAACTGCCACCACTACCATGACCACCATGAC CACCACCATCACCATTGCCACCACCATCACCCACCACCACTACCATCACC ACCATCACCTCAACACCAACACCACCACCACCACCACCACCGTCATCATC ACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCGTCATCATCACCACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCACCAACACCACCATCGTCATCATCACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAC CACCACCATCATCATTGTCATCATCACCATCATCACCACCATCACCATCA CTACCATCACCATCACCACCACCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		3705		chr5	TogoVar
GRAMD4_chr22_46615386_46684785	46643092	C C	CATCCATC others(501): Show CATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCTTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTG GATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCA TCCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACC CACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATC CATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTG GATCCATCT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	328	0.0031	508	c.283 others(525): Show c.283+5154_283+5155insGCATCCATCCATGCATCCTTCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCC ATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGAT CCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGG ATCCATCTATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	328	0.0031	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCC ATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643151	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCT ACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0191 a0001c0001t0048g0191	1	328	0.0031	508	c.283 others(525): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGG ATCCATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCAT CCATCCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	328	0.0031	508	c.283 others(525): Show c.283+5230_283+5231insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGCATCC ATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0055 a0001c0008t0055	a0001c0008t0055g0067 a0001c0008t0055g0067	1	328	0.0031	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0241 a0001c0001t0003g0241	1	328	0.0031	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCC ATCCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCAT CCATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCT ACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01175.hp2 others(2): Show HG00140.hp1 HG00741.hp1 HG01175.hp2 HG01261.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0225 others(2): Show a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0240 a0001c0001t0003g0248	5	328	0.0152	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTC ATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCATCCAT CCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATCCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCT ATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCAT TTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0069 a0001c0002t0004g0069	1	328	0.0031	508	c.283 others(525): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCTATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTGG ATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT GCATGCATCTATCCATCCATCCATCCATCCATCCATCCATTCATTTATCC ATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCACCTAC CCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643155	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCGATCCATCCATCCATCCATCCATCCAT CCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATTCAT TTATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATGCATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0053 a0002c0011t0053	a0002c0011t0053g0019 a0002c0011t0053g0019	1	328	0.0031	508	c.283 others(525): Show c.283+5218_283+5219insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCGATCCATCCATCCATCCATCCATCCATCC CTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATTCATTT ATCCATCCCTGGATCCATCCATCCCTGGATCCATCCATCCATCTACCCAC CTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA19005.hp1 HG02132.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0300 a0001c0001t0002g0257 a0001c0001t0002g0300	2	328	0.0061	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCAT CCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTAC CCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGC ATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCAT CCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGG ATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTAC CCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(48): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00673.hp1 HG01081.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02300.hp2 HG03239.hp1 HG03669.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp2 NA18951.hp1 NA18964.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18985.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19005.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0022 a0001c0001t0037 a0001c0001t0045 a0001c0001t0051 a0001c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0068 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0003g0101 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0022g0138 a0001c0001t0022g0176 a0001c0001t0037g0065 a0001c0001t0045g0140 a0001c0001t0051g0162 a0001c0004t0001g0321	51	328	0.1555	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCC ATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCTATCCATTTATCCATCCCATCCATCCATCCATCCA TCCATCCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCCATCCA TCCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATC CATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCCTGG ATCCATCCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTAC CCATCGATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCC ATCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCAT GCATGCATG	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	328	0.0031	508	c.283 others(525): Show c.283+5226_283+5227insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTATCC ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCCATCCATCCATCCATCCATCCATC CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCCATCCATCCATC CATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCA TCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCCCTGGATCCAT CCATCCATCTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCG ATCCATCTATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATGCATGC ATGCATCCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(501): Show CCATCCATCCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCAT TTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCC ATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCAT CCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCC ATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0185	1	328	0.0031	508	c.283 others(525): Show c.283+5222_283+5223insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTT ATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCAT CCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCATCCATCC ATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCCACCTACCCAT CCATCCATCTATCCATTTACCCATCGATCCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ATGCATGCATCCATCCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46643159	C C	CCATCCAT others(501): Show CCATCCATCCATCCATTTATCCATCCCTGGATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCCATTTAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCCATCCAT CCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCATCTACCC ACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCTATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCATCTATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT GCATGCATG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	328	0.0031	508	c.283 others(525): Show c.283+5214_283+5215insTTATCCATCCCTGGATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCGTCCATCCATCTATCCATCCATCC ATTTATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCAC CCATCCATCCATCTATCCATTTATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCCTGGATCCATCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATGCATGCATCTATCCATCCATCCATCC ATCCATCCATCCATCCATTCATTTATCCATCCCTGGATCCATCCATCCAT CTACCCACCTACCCATCCATCCATCTATCCATTTACCCATCGATCCATCT ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGTGGATCCAT CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCATGCATGCATCCATCCATCCAT	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GTPBP4_chr10_983434_1024932	1010783	C C	CCTTCATT others(501): Show CCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCT TCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGC ACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACT CTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGAC TCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTG GGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACC ACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTC CTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGA CACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCC TGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGAT GCTGGGCCT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	370	0.0027	508	c.134 others(525): Show c.1344+267_1344+268insATTCTCCTGCATCCCTCCATCCTGACTC TGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGG CCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTC TTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTG CATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGA CTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTG ACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGC TGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCA CCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCCCTTCATTCT CCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCC GAGACTCTGGTGGAGATGCTGGGCCTCTTC	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HCN2_chr19_584881_622159	602255	C C	CCCTCCTC others(501): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTC TCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGAC GCCCCACTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0022 a0001c0018t0022	a0001c0018t0022g0039 a0001c0018t0022g0039	1	408	0.0025	508	c.633 others(525): Show c.633-1224_633-1223insTCCTCCTCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTTCCTCCCCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN2_chr19_584881_622159	602266	C C	CCTCCTGC others(501): Show CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTTCCTCCT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0275 a0002c0004t0004g0275	1	408	0.0025	508	c.633 others(525): Show c.633-1120_633-1119insCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTTCCTCCTCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAT others(501): Show TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGGAATATATATACAT GGAATATATATATGGAATATATATACATGGAATATATATATATGGAATAT ATACATATGGAATATATATATGGAATATATACATATGGAATATATATATG GAATATATACATATGGAATATATATATGGAATATATACATATGGAATATA TATATGGAATATATACATATGGAATATATATATGGAATATATACATATGG AATATATATATGGAATATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	508	c.-21 others(519): Show c.-2186_-2185insGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GGAATATATATACATGGAATATATATATGGAATATATATACATGGAATAT ATATATATGGAATATATACATATGGAATATATATATGGAATATATACATA TGGAATATATATATGGAATATATACATATGGAATATATATATGGAATATA TACATATGGAATATATATATGGAATATATACATATGGAATATATATATGG AATATATACATATGGAATATATATATGGAATATATACGTATGGAATATAT ATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGA ATATATATATGGAATATATACGTATGGAATATATATATGGAATATATACG TATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATA TATACGTATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2099		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322870	T T	TGGAATAT others(501): Show TGGAATATATATACATGGAATATATATATGGAATATATATACATGGAATA TATATATGGAATATATATACATGGAATATATATATGGAATATATATACAT GGAATATATATATGGAATATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATGGAATATATACATATGGAATATATATATGGA ATATATACATATGGAATATATATATGGAATATATACATATGGAATATATA TATGGAATATATACATATGGAATATATATATGGAATATATACATATGGAA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATAT ATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATG GAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATATA TATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 NA18998.hp2 HG03942.hp1 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0231 a0002c0002t0002g0232	2	323	0.0062	508	c.-21 others(519): Show c.-2186_-2185insGGAATATATATACATGGAATATATATATGGAATA TATATACATGGAATATATATATGGAATATATATACATGGAATATATATAT GGAATATATATACATGGAATATATATATGGAATATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATGGAATATATACATATG GAATATATATATGGAATATATACATATGGAATATATATATGGAATATATA CATATGGAATATATATATGGAATATATACATATGGAATATATATATGGAA TATATACATATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTA TGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATA TACGTATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2099		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322899	A A	AATATATA others(501): Show AATATATACGGAATATATATACGGAATGTATATACGGAATATATATACGG AATGTATATATATGGAATATATATACGGAATGTATATACGGAATATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATATGGAACATATATA TACGGAATATATACATATGGAACATATATATACGGAATATATACATATGG AACATATATATGGAATATATACATATGGAACATATATATGGAATATATAC ATATGGAACATATATATGGAATATATATATATGGAATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0010	1	323	0.0031	508	c.-21 others(519): Show c.-2157_-2156insATATATACGGAATATATATACGGAATGTATATAC GGAATATATATACGGAATGTATATATATGGAATATATATACGGAATGTAT ATACGGAATATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TATGGAACATATATATACGGAATATATACATATGGAACATATATATACGG AATATATACATATGGAACATATATATGGAATATATACATATGGAACATAT ATATGGAATATATACATATGGAACATATATATGGAATATATATATATGGA ATATATATATGGAATATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2070		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(501): Show TATATATATGGAATATATATATACGGAATATATACGGAATATATATACGG AATGTATATACGGAATATATATACGGAATGTATATATATGGAATATATAT ACGGAATGTATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATATGGAACATATATATACGGAATATATACATATGGAACA TATATATATGGAATATATACATATGGAACATATATATGGAATATATACAT ATGGAACATATATATGGAATATATACATATGGAACATATATATGGAATAT ATATATATGGAACATATATATGGAATATATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0010 a0003c0003t0004g0010	1	323	0.0031	508	c.-21 others(519): Show c.-2144_-2143insATATATATGGAATATATATATACGGAATATATAC GGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTATAT ATATGGAATATATATACGGAATGTATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATATGGAACATATATATACGGAATA TATACATATGGAACATATATATATGGAATATATACATATGGAACATATAT ATGGAATATATACATATGGAACATATATATGGAATATATACATATGGAAC ATATATATGGAATATATATATATGGAACATATATATGGAATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar

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