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
SMIM36_chr17_55444856_55516452	55501128	A A	ATTATAAT others(523): Show ATTATAATATATAATATAATATACATTATATTTTATGATATATAATATAC ATTATATTTTATGATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATGATATACATTATATTTTATGATATATG ATATACATTATATTTTATGATATATGATATACATTATATTTTATGATATA TGATATACATTATATTTTATGATATATGATATATATTATATTTTATGATA TATGATATATATTATATTTTATGATATATATTATATATTATATTTTATGA TATATAATATATATTATATTTTATGATATATAATATATATTATATTTTAT GATATATAATATATATTATATTTTATGATATATAATATATTTTATATTTT ATGATATATAATATATTTTATATTTTATGATATATAATATATTTTATATT TTATGATATATAATATATTTTATATTTTATG	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19240.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0272 a0001c0001t0008g0273 a0001c0001t0002g0272 a0001c0001t0008g0273	2	340	0.0059	530	c.17 others(549): Show c.174+9750_*174+9751insCATAAAATATAAAATATATTATATAT CATAAAATATAAAATATATTATATATCATAAAATATAAAATATATTATAT ATCATAAAATATAAAATATATTATATATCATAAAATATAATATATATTAT ATATCATAAAATATAATATATATTATATATCATAAAATATAATATATATT ATATATCATAAAATATAATATATAATATATATCATAAAATATAATATATA TCATATATCATAAAATATAATATATATCATATATCATAAAATATAATGTA TATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAATG TATATCATATATCATAAAATATAATGTATATCATATATCATAAAATATAA TGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATAT AATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAAT ATAATGTATATTATATATCATAAAATATAATGTATATTATATTATATATT ATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNX9_chr6_157818246_157950077	157827515	A A	ATGTATTA others(523): Show ATGTATTATAGTTTATATAATATATAAACATGTATTATAGTTTATATAAT ATATAAACATGTATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	302	0.0033	530	c.12+ others(545): Show c.12+4070_12+4071insGTATTATAGTTTATATAATATATAAACATG TATTATAGTTTATATAATATATAAACATGTATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATATT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPEF2_chr5_35612863_35819611	35714092	A A	ATATAGTA others(523): Show ATATAGTATTATATATTTTATATACAGTATATATATTATATATAGTATTA TATATTTTATATATAGTATATTTTATATATAGTATATATATTATATATAG TATATATTTTATATATAGTATATATATTATATATAGTATATATTTTATAT ATAGTATATATATTATATATATATTTTATATATAGTATATATATTATATA GTATATATTTTATATATAGTATATATATTATATAGTATATATTTTATATA TAGTATATATATTATATATAGTATATATTTTATATATAGTATATATTTTA TATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATAT TTTATATATAGTATATATATTATGTATAGTATATATATTATATATAGTAT ATATTTTATGTATAGTATATATATTATGTATAGTATATATTTTATATATA GTATATATATTATGTATAGTATTATATATTTTATATATAGTATATATATT ATGTATAGTATTATATATTTTATATATATGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp1 HG02257.hp2 HG03579.hp1	a0003 a0009 a0003 a0009	a0003c0004 a0009c0013 a0003c0004 a0009c0013	a0003c0004t0001 a0009c0013t0001 a0003c0004t0001 a0009c0013t0001	a0003c0004t0001g0128 a0009c0013t0001g0133 a0003c0004t0001g0128 a0009c0013t0001g0133	2	268	0.0075	530	c.291 others(549): Show c.2914+1206_2914+1207insTATAGTATTATATATTTTATATACAG TATATATATTATATATAGTATTATATATTTTATATATAGTATATTTTATA TATAGTATATATATTATATATAGTATATATTTTATATATAGTATATATAT TATATATAGTATATATTTTATATATAGTATATATATTATATATATATTTT ATATATAGTATATATATTATATAGTATATATTTTATATATAGTATATATA TTATATAGTATATATTTTATATATAGTATATATATTATATATAGTATATA TTTTATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTA TATATATTATATATAGTATATATTTTATATATAGTATATATATTATGTAT AGTATATATATTATATATAGTATATATTTTATGTATAGTATATATATTAT GTATAGTATATATTTTATATATAGTATATATATTATGTATAGTATTATAT ATTTTATATATAGTATATATATTATGTATAGTATTATATATTTTATATAT ATGT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	20/36			chr5	TogoVar
SPTSSA_chr14_34427788_34467240	34443516	T T	TGTGTGTG others(523): Show TGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTTCCTCTCAT TACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAACCTCTGCC TCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGATGGAGT TTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTG CAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGT GTTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAGTTT CCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTGCAA CCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTGAGA TGGAGTTTTCCTCTCATTACCCAGCTGGAGG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0103 a0001c0001t0006g0103	1	344	0.0029	530	c.113 others(547): Show c.113-8213_113-8212insCCTCCAGCTGGGTAATGAGAGGAAAACT CCATCTCAAAACACACACACACACACACACACACACACACACACACACAC ACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAG AGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAG AGGAAACTCCATCTCAAAACACACACAAACACACACACACACACACACAC AACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGG TTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATGAGAGG AAAACTCCATCTCAAAACACACACACACACACACACACACACACACACAC ACACACACACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTG GGAGGCAGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGG GTAATGAGAGGAAACTCCATCTCAAAACACACACAAACACACACACACAC AC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(523): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	530	c.64 others(541): Show c.6442_*6443insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCC GCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
SRXN1_chr20_641615_658200	642271	G G	GCCCAGCG others(523): Show GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	422	0.0024	530	c.64 others(541): Show c.6442_*6443insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACC CCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4343		chr20	TogoVar
STAB2_chr12_103582273_103771719	103768606	G G	GGAGGGAG others(523): Show GGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGGGG GAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGAGAGGGACAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACAGGGAG AGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGG AGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGGCGGGAGGGGAGGG AGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGGAGGG AGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGGGAG AGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGG AGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGAGGG AAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0231 a0001c0015t0001g0231	1	256	0.0039	530	c.22 others(541): Show c.2270_*2271insGAGGGAGGGGGAGGGGGGACAGGGAGGGAGGGAG AGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAG GAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGG GGCGGGAGGGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGA GGGAGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGA GGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGG GGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACA GGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGA GAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGGGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1888		chr12	TogoVar
STK4_chr20_44961512_45085021	44990554	T T	TCTCCGGT others(523): Show TCTCCGGTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCC ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTT TACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATG AACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCCGCAATAAA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	328	0.0031	530	c.525 others(547): Show c.525+3270_525+3271insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTATTAT ACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATG TATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCA TTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCAC AGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGT TCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTT GCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACA AAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTA TATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTT GGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACTCCGGTCTC TT	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(523): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATC CACAGTCACCACACATCAGACCCCCGGGACCAACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCC ACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	392	0.0026	530	c.228 others(549): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGA CTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGTG GTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGG GGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATG TGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273554	C C	CCACACAT others(523): Show CCACACATCAGACCCCTGTGACCGATCACCATCCACAGTCACCACACATC AGACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCAT CCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTCACCACA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGT GACCGATCACCATCCACAGTCACCACACATCAGACCCCCGGGACCAACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCC ACAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCA CAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19063.hp1 NA18983.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0164 a0001c0001t0001g0165	2	392	0.0051	530	c.228 others(549): Show c.2287-1275_2287-1274insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGTGAT CGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTC TGATGTGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGAC TGTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGGTCCCGGG GGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGATG TGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM120B_chr12_121707752_121787068	121747485	C C	CGGGAGTC others(523): Show CGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0229 a0002c0002t0004g0229	1	314	0.0032	530	c.189 others(545): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAG TCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM202_chr15_72393305_72413367	72396769	T T	TGGGGGGT others(523): Show TGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCG GCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGG GAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	396	0.0025	530	c.-15 others(541): Show c.-1558_-1557insGGGGGGTCAGCCCCCCCACCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGAG TCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTC TGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGAGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGG GAGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	TMEM202	ENSG00000187806.9	transcript	ENST00000341689.4	protein_coding		1535		chr15	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(523): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGCC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGG TTAGGGAGGCCAGGGTTAAGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0169 a0002c0002t0009g0169	1	466	0.0022	530	c.49 others(541): Show c.4905_*4906insACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGGC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507246	C C	CATACGTA others(523): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATAATGTATATATA CATTATACATACGTAAATGTATAATGTATAATGTATATATACATTATACA TACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAAT GTATATATACATTATACATACGTAAATGTATAATGTATATATACATTATA CATACGTAAATGTATAATGTATATATATACATTATACATACGTAAATGTA TATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0102 a0001c0001t0032g0102	1	388	0.0026	530	c.-23 others(547): Show c.-23+2801_-23+2802insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT AT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(523): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCT TCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01243.hp2 others(3): Show HG00099.hp2 HG00735.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG03491.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0004 a0002c0003t0002g0047 a0002c0003t0002g0004 a0002c0003t0002g0047	6	334	0.0180	530	c.657 others(545): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTC CTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VCX2_chrX_8164944_8176267	8169884	C C	CCACCTCT others(523): Show CCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCC CCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCCCCCTCCCTCCCTCC CTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCACCTCTTCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	530	c.14 others(539): Show c.147_*148insTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		59		chrX	TogoVar
VPS53_chr17_503668_719839	510333	T T	TCGCCCCT others(523): Show TCGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCA CATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCT CGCCCCTCACCAGTCACATATCAAATCCTGGCTCGCCCCTCACCAGTCAC ATATCAAATCCTGGCTCGCCCCTCACCAGTCACATATCAAATCCTGGCTC GCCCCTCACTAGTCACATATCAAATCCTGGCTCGCCCCTCACTAGTCACA TATCAAATCCTGGCTCGCCCCTCACTAGTCACATATCAAATCCTGTCTCA TCCCTCACTAGTCACATATCAAATCTTGGCTGACCCCTTACTAGTCACAT ATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTGT CCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAGTCACAT ATCGAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTGGCTTGT CCCCTTGCTAGTCACGTATCAAATCCTGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0137 a0005c0009t0137	a0005c0009t0137g0189 a0005c0009t0137g0189	1	232	0.0043	530	c.87 others(541): Show c.8794_*8795insGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCGGCCAGGATTTGATACGTGACTAGCAAGGGGACA AGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGCCAGGATTCGATATG TGACTAGTAAGGGGTCAGCCAAGATTTGATATGTGACTAGTGAGGGATGA GACAGGATTTGATATGTGACTAGTGAGGGGCGAGCCAGGATTTGATATGT GACTAGTGAGGGGCGAGCCAGGATTTGATATGTGACTAGTGAGGGGCGAG CCAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTG ACTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCGAGC CAGGATTTGATATGTGACTGGTGAGGGGCGAGCCAGGATTTGATATGTGA CTGGTGAGGGGCGAGCCAGGATTTGATATGTGACTGGTGAGGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8794		chr17	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(523): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGCATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATACATATGCATATATA CATATGTATATATATGTATATATGTATACATATGTATATATGCATATATA TACATATGTATATATGCATATATATACATATGTGTATATATGTATATATG TATACATATGTGTATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	165	0.0061	530	c.-15 others(551): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGCATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATACATATGCAT ATATACATATGTATATATATGTATATATGTATACATATGTATATATGCAT ATATATACATATGTATATATGCATATATATACATATGTGTATATATGTAT ATATGTATACATATGTGTATATATGTATATGTATACATATGTGTATATAT GTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ADAM22_chr7_87929251_88207889	88110829	G G	GCCTCCCA others(524): Show GCCTCCCAGGCTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTATTTCACTTTGGG AGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGCGACCAGCCTGG CCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGGGC GTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGGCTGAGGCAGGAG AACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCA TTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCGTGTCAAAAAAAAAAA AAAAAAAACCCAAGGAAAAATAACTTTTAGGAGATTGCATAATAACTGGA TCAGGAATAGAACTCAGAATCCTGCCTTAGTTATGTATTTTTATTTTTAT TGTATTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCCAGGTTGGAGTGT AGTGGCACGATCTCAGCTCACTGCAACCTCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(46): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01169.hp2 HG01517.hp2 HG01884.hp2 HG01981.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18970.hp2 NA18973.hp1 NA18994.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0013	a0001c0001 a0002c0002 a0006c0006 others(2): Show a0001c0001 a0002c0002 a0006c0006 a0007c0007 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0029 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0006c0006t0001 a0007c0007t0007 a0013c0015t0003	a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 others(46): Show a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0002g0027 a0001c0001t0002g0047 a0001c0001t0002g0058 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0102 a0001c0001t0002g0164 a0001c0001t0003g0032 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0006g0228 a0001c0001t0008g0087 a0001c0001t0009g0056 a0001c0001t0014g0054 a0001c0001t0015g0184 a0001c0001t0015g0188 a0001c0001t0017g0036 a0001c0001t0021g0108 a0001c0001t0029g0057 a0002c0002t0001g0196 a0002c0002t0001g0207 a0002c0002t0001g0211 a0002c0002t0001g0226 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0008g0208 a0006c0006t0001g0072 a0007c0007t0007g0185 a0013c0015t0003g0031	49	230	0.2130	531	c.473 others(548): Show c.473+2580_473+2581insCTCAAGTGATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGATTATAGGCACCTGCCACCATGGCTGGCTAATTTTGTA TTTCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTG CGACCAGCCTGGCCAACCTGATGAAACCCCGTCTCTACTAAAAATACAAA AATTAGCTGGGCGTGGTGGCGGGTGCCTGTAATCTCAGCTACTTGGGAGG CTGAGGCAGGAGAACCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCT GAGATCATGCCATTGTACTCCAGCCTGGGCAACAGAGCAAGACTCCGTGT CAAAAAAAAAAAAAAAAAAACCCAAGGAAAAATAACTTTTAGGAGATTGC ATAATAACTGGATCAGGAATAGAACTCAGAATCCTGCCTTAGTTATGTAT TTTTATTTTTATTGTATTTTATTTTTGAGATGGAGTCTCGTTCTGTTGCC AGGTTGGAGTGTAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCC AGG	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADARB2_chr10_1172313_1742525	1464707	C C	CGCTGGAG others(524): Show CGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCA GTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCCAC ACACATGCGCTGGGGGCAGTCACAGCGGGCAGTGCGCTGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCG TGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCGGGGGGGC AGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCA CACACGCGCTGGGGACAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGTG GACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCGT GCTGGAGAAGAGGGTGGACACACACTCCCCCGCACACGCGCTGGGGGCAG TCACAGCAGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCACA CACGCGCTGGGGACAGTCACAGCGGGCAGCGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0054	1	106	0.0094	531	c.101 others(550): Show c.101-85548_101-85547insACGCTGCCCGCTGTGACTGTCCCCAG CGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCTG CTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTGTGTCCACCCTCTTC TCCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTG TGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCTGTGACTGTCCCCAGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCACTGCCCGCT GTGACTGCCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCT CCAGCACGCTGCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGT GTGTCCACCCTCTTCTCCAGCGCACTGCCCGCTGTGACTGCCCCCAGCGC ATGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCGC TGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCT CCAGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRF1_chr6_46992708_47047332	47021362	A A	ATTTTTTT others(524): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATT ATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATA TGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAG CATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACC ACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATT GTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTC TTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTA CAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTG TATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGG TTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTG TGCATGTGTCTTTATAGCAGCAAGATCATGAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0308 a0001c0003t0004g0308	1	400	0.0025	531	c.553 others(546): Show c.553-574_553-573insATCATGATCTTGCTGCTATAAAGACACATG CACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACC AACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATA TACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTT TGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGC AAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGA ACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACT GTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAA TGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATA CATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGT ATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ADGRF1	ENSG00000153292.16	transcript	ENST00000371253.7	protein_coding	6/14			chr6	TogoVar
ADPRHL1_chr13_113394611_113458488	113418984	C C	CTCCCTCC others(524): Show CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCC CTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCC TTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCC TTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTC TTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0066 a0002c0002t0066	a0002c0002t0066g0190 a0002c0002t0066g0190	1	262	0.0038	531	c.106 others(550): Show c.1061+3841_1061+3842insAAAGAAGGAAGGGAAGGGGAGGGGAA GGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGGA GGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAA GGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGA AAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAG GGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AGAP1_chr2_235489043_236136793	235802979	T T	TGTGATGA others(524): Show TGTGATGATGGTTGTGATGGTGGTGATGGTTGTGGTTGTGATGGTGATGG TGATGGCTGTGATGATGGTTGTGATGGTGGTGATGATGGTCGTGGTGATG GTTGTGATGGTGGTGATGATTGTGGTTGTGATGGTGATGATGGTTGTGGT TGTGGTGGTGATGATGCTGGTTGTGGTGATGGTGATGGTTGTGATGGTGG TGATGGTTGTGGTGATGATGGTTGTGGTGATGATGGTTGTGGTGATGGTT GTGATGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGATGGTTGT GGTTGTGATGGTGGTGGTGATGGTTGTGATGATGGTTGTGGTTGTGATGA TTGTGATTGTGGTGATGGTGATGGTTGTGATGGTGGTGATGATGGTTGTG ATGGTGATGATGGTTGTGGTTGTGATGATGGTTGTGATGGTGGTGATGGT TGTGGTGATGGTGATGGTTGTGATGGTGATGATGGTTGTGATGGTGATGA TGGTTGTGATGGTGGTGATGGTTGTGATGGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0003 a0002c0013t0041 a0001c0001t0003 a0002c0013t0041	a0001c0001t0003g0063 a0002c0013t0041g0081 a0001c0001t0003g0063 a0002c0013t0041g0081	2	98	0.0204	531	c.957 others(548): Show c.957+3463_957+3464insATGGTTGTGATGGTGGTGATGGTTGTGG TTGTGATGGTGATGGTGATGGCTGTGATGATGGTTGTGATGGTGGTGATG ATGGTCGTGGTGATGGTTGTGATGGTGGTGATGATTGTGGTTGTGATGGT GATGATGGTTGTGGTTGTGGTGGTGATGATGCTGGTTGTGGTGATGGTGA TGGTTGTGATGGTGGTGATGGTTGTGGTGATGATGGTTGTGGTGATGATG GTTGTGGTGATGGTTGTGATGATGGTTGTGATGGTGATGATGGTTGTGAT GGTGATGATGGTTGTGGTTGTGATGGTGGTGGTGATGGTTGTGATGATGG TTGTGGTTGTGATGATTGTGATTGTGGTGATGGTGATGGTTGTGATGGTG GTGATGATGGTTGTGATGGTGATGATGGTTGTGGTTGTGATGATGGTTGT GATGGTGGTGATGGTTGTGGTGATGGTGATGGTTGTGATGGTGATGATGG TTGTGATGGTGATGATGGTTGTGATGGTGGTGATGGTTGTGATGGTGGTG ATG	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP39_chr8_144524179_144690846	144532017	G G	GGAGCAGC others(524): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0017 a0001c0007t0001g0017	1	246	0.0041	531	c.298 others(548): Show c.2980+287_2980+288insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTG CCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCGCTGCCCTGT GCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCC CTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACC TGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCC CTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTG CTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687855	G G	GCACTTCC others(524): Show GCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCG TGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACTGG CGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCC CACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGT GACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCG GTGAGCACTTCCCACCCCCGTGACCACACACTGGCAGTGAGCACTTCCCA CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCGTGACCACTCA CTGGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCAGTGAGCAC TTCCCACCCCGTGACCACACATTTACAGTGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	246	0.0041	531	c.-22 others(542): Show c.-2252_-2251insTTCACTGTAAATGTGTGGTCACGGGGTGGGAAGT GCTCACTGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTG AGTGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTG GGAAGTGCTCACTGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGC TCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGT GGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGG AAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACG GGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		2010		chr8	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(524): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGAGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCTA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	292	0.0034	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG AGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(524): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCTA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00544.hp1 others(100): Show HG00099.hp1 HG00280.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19068.hp1 NA19077.hp2 NA19081.hp2 NA19087.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0006	a0001c0001 a0001c0002 a0003c0005 others(2): Show a0001c0001 a0001c0002 a0003c0005 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0030 a0001c0001t0033 a0001c0001t0048 a0001c0001t0049 a0001c0002t0001 a0001c0002t0011 a0001c0002t0014 a0001c0002t0028 a0001c0002t0029 a0003c0005t0001 a0004c0007t0001 a0006c0009t0005	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0284 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0100 a0001c0001t0003g0008 a0001c0001t0003g0025 a0001c0001t0003g0095 a0001c0001t0005g0071 a0001c0001t0005g0111 a0001c0001t0011g0037 a0001c0001t0011g0039 a0001c0001t0011g0049 a0001c0001t0011g0122 a0001c0001t0012g0052 a0001c0001t0018g0121 a0001c0001t0018g0191 a0001c0001t0030g0136 a0001c0001t0033g0063 a0001c0001t0048g0010 a0001c0001t0049g0001 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0036 a0001c0002t0001g0065 a0001c0002t0001g0086 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0011g0051 a0001c0002t0014g0073 a0001c0002t0014g0074 a0001c0002t0028g0048 a0001c0002t0029g0043 a0003c0005t0001g0026 a0003c0005t0001g0103 a0004c0007t0001g0117 a0006c0009t0005g0070	103	292	0.3527	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(524): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCTA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0054 a0001c0001t0043g0054	1	292	0.0034	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(524): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGTGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCTA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	292	0.0034	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(524): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCTA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0083 a0001c0002t0004g0083	1	292	0.0034	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(524): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGTCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCTA TCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19058.hp1 NA18970.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0030 a0001c0001t0003g0042 a0001c0001t0001g0030 a0001c0001t0003g0042	2	292	0.0069	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGTCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487543	C C	CAGAGGCG others(524): Show CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGC TGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCT GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGG GGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0056 a0001c0001t0050g0056	1	292	0.0034	531	c.207 others(552): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCC CGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGTAGAGGCGCCCCTC ACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(524): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGGAAGGGGGAGGAGGAA GGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGG GAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGG GGAAGAAAGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0007 a0006c0007t0001g0007	1	300	0.0033	531	c.-70 others(540): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGGAA GGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGG AGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGG GGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGAAGG GGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGG GAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGA GTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGT GGGAGGAGGAAGGGGAAGAAAGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
BOK_chr2_241553745_241579131	241570740	C C	CGGATGGG others(524): Show CGGATGGGTGAGTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGG TACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGG GGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGC GGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGA GGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCC TGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGA GTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGG TGCGAGGGTGCAGAGGTACGGGAGGGAGTGGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0045 a0001c0007t0045	a0001c0007t0045g0109 a0001c0007t0045g0109	1	434	0.0023	531	c.513 others(546): Show c.513+465_513+466insAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGG AGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGG GTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTG AGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGA GGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTG GGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTC TGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGG GAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGT G	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(524): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAG GGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCGGGAGGGCG GGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGGAGGGAGGG CGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGCGGG ACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGG GAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGA GGGAGGGCGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	410	0.0024	531	c.465 others(546): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCGCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCC TCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCTCCCTCCCTCC GTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCT CCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCTCCCTCCGTCC CGCCCTCCCTCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGT CCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCC CGCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCG CCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCT CCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCC C	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004446	G G	GTGATGAT others(524): Show GTGATGATGGTGATGATGTGATGGTGATGATGTTGATGATGGTGATGATG GTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGAT GGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGG TGATGATGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGA TGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATATTGATGGTGATGATATTGATGGTGAT GATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATAGT TATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGG TGATGGTGATGATGTGATGGTGATGATAGTGA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0000 a0003c0004t0000	a0003c0004t0000g0190 a0003c0004t0000g0190	1	346	0.0029	531	c.963 others(548): Show c.963+3549_963+3550insTCACTATCATCACCATCACATCATCACC ATCACCATCATCACCATCATCACCATCATCAACATCATCACCATCACCAT CATAACTATCACCATCATCACCATCATCACCATCACATCATCACCATCAC CATCATCACCATCAATATCATCACCATCAATATCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATCATC ACCATCATCAGCATCACCATCACCACCACATCATCATCACCATCACCATC ATCACCATTACCATCACATCACCATCATCATCACCACCATCACCATCATC ACCATCACCATCATCACCATCACCATCATCATCACCATCACATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACTATCATCACCAT CACCATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCA TCACCATCATCACCATCATCAACATCATCACCATCACATCATCACCATCA TCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C8orf82_chr8_144520733_144534111	144532017	G G	GGAGCAGC others(524): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGC AGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0049 a0001c0003t0003g0049	1	398	0.0025	531	c.-31 others(542): Show c.-3102_-3101insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGC TCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTACTCCCC ACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCT ATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCC GTGCCTGCTATGTCTAGCCTACTCCCCACCTGCTGCTCCCTGCCCTGTGC CCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2907		chr8	TogoVar
CACNA1C_chr12_2047987_2702950	2106544	A A	AGAGGGTT others(524): Show AGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCACCC TGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCA CCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGC TCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGG CGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACT GGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCC ACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGGCGTCCTGA AGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCGTCC TGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCG TCCTGAAGCCACTGGGTGCTCACCCCGGGGAGGGTTTCCACCTCAGCTGG GCATCCTGAAGCCACTGGGCGCCCACCCCGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0101 a0001c0001t0017g0101	1	104	0.0096	531	c.50- others(546): Show c.50-8552_50-8551insCATCCTGAAGCCACTGGGTGCTCACCCTGG AGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGCCCACCC CGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGTGCTCA CCCTGGAGAGGGTTTCCACCTCAGCTGGGCATCCTGAAGCCACTGGGCGC CCACCCCGGGGAGGGTTTCCACCTCAGCTGGGGCGTCCTGAAGCCACTGG GCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCGTCCTGAAGCCAC TGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCGTCCTGAAGC CACTGGGTGCTCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCCTGA AGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGGGCATCC TGAAGCCACTGGGTGCTCACCCTGGAGAGGGTTTCCACCTCAGCTGGGCA TCCTGAAGCCACTGGGCGCCCACCCCGGGGAGGGTTTCCACCTCAGCTGG G	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44588992	T T	TACTGGGA others(524): Show TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCTGGGAG GGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCGACCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGC GCGGGGGGGGGGGGGGTCGGCCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	198	0.0051	531	c.377 others(552): Show c.377-115291_377-115290insACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCTGGGAGGGAGGCGCGGGGGGGGGGTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCAGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAG CCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCAGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCTGGCCAGCCGACCCGTCCGGGAGGTGAGGGGC GCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGGGGGTCGGCCAGC CGCCCTG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10			chr2	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(524): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCC TCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGG GGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAG GGGGAGGGGGATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCA CGGGGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATC CTCACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGG GGGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGGGGATCCTCACG GGGAGGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTCA TGGGGAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGA TCCTCACAGGGTGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	58	0.0172	531	c.234 others(552): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAG GGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCC TCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGAT CCTCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGG ATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGG GGGATCCTCCTCAGGGGGAGGGGGGATCCTCACGGGGAAGGGGGATCCTC ACGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTGGATC CTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGAGGGG GGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGG GAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACAC others(524): Show CCACACACACACACACATACAGACACAACCACACCACACACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACGC TCACATACAGACACAACCACACCACACTCACACACACACACTCACATACA GACACAACCACACCACACCACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACTCACATACAGACACAACCACACCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACATACAC ACATACAGACACAACCACACCACACTCACACACACACACACATACAGACA CAACCACACCACACTCACACACACACACATACAGACACAACCACACCACA CTCACACACACACACAGACACAACCACACCACACACACACACACACTCAC ATACAGACACAACCACACCACACACACACACACACAGACACAACCACACC ACACACACACACCCAACCACACCACACTCACA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	460	0.0022	531	c.193 others(548): Show c.1938+519_1938+520insATACAGACACAACCACACCACACACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACGCTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACCACACACACACACTCACATACAGACA CAACCACACCACACTCACACACACACACACTCACATACAGACACAACCAC ACCACACACACACACACTCACATACAGACACAACCACACCACACTCACAC ATACACACATACAGACACAACCACACCACACTCACACACACACACACATA CAGACACAACCACACCACACTCACACACACACACATACAGACACAACCAC ACCACACTCACACACACACACAGACACAACCACACCACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACACAGACACAAC CACACCACACACACACACCCAACCACACCACACTCACACACACACACACA CAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182002	A A	ACACACAC others(524): Show ACACACACTCACATACAGACACAACCACACCACACACACACACACACACA CTCACATACAGACACAACCACACCACACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACATACACACTCACATACAGACACAACCACACCACACACA CACACACACTCACATACAGACACAACCACACCACACACACACACACACTC ACATACAGACACAACCACACCACACACACACATACACACTCACATACAGA CACAACCACACCACACACACACACATACACACTCACATAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02723.hp2 others(2): Show HG02109.hp1 HG02451.hp2 HG02723.hp2 HG03098.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0205 a0001c0001t0001g0206 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208	5	460	0.0109	531	c.193 others(548): Show c.1938+689_1938+690insTCACATACAGACACAACCACACCACACA CACACACACACACACTCACATACAGACACAACCACACCACACACACACAC ACTCACATACAGACACAACCACACCACACTCACACACACACACTCACATA CAGACACAACCACACCACACTCACACATACACACTCACATACAGACACAA CCACACCACACACACACACACACTCACATACAGACACAACCACACCACAC ACACACACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACACACACACATACACACTCAC ATAGACACAACCACACCACACTCACACACACACATACACACTCACATACA GACACAACCACACCACACACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACTCACATACAGACACAACCACACC ACACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(524): Show CACTATATATAGTAGTTATACATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT TTATATATACTATATATAAACTATATATAGTAGTTATATATACTACTATA TATACACTATATATAGTATATACTATATATACACTATATATAGTAGTTAT ATATACTACTATATATACTACTATATATAGTATATACTGTATATACACTA TATATAGCATATATACTATATATACACTATATATAGTAGTTATATATACT ATATATACACTATACATACACTATATATAGTTTATATATACTATATATAG TAGTTATATATACTATATATACTATATATAGTAGTTATATATACTATATA TACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19010.hp1 NA19002.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	2	396	0.0051	531	c.349 others(546): Show c.349+946_349+947insCATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT TTATATATACTATATATAAACTATATATAGTAGTTATATATACTACTATA TATACACTATATATAGTATATACTATATATACACTATATATAGTAGTTAT ATATACTACTATATATACTACTATATATAGTATATACTGTATATACACTA TATATAGCATATATACTATATATACACTATATATAGTAGTTATATATACT ATATATACACTATACATACACTATATATAGTTTATATATACTATATATAG TAGTTATATATACTATATATACTATATATAGTAGTTATATATACTATATA TACTATATATAGTTTATATATATACTATATATACTATATATAGTAGTTAT A	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDH4_chr20_61247261_61945617	61353629	A A	ATCTTTCT others(524): Show ATCTTTCTCCCCTTCCCCCTCCCCCCTCCTCTGTCTTCCCCCTACTCCTC CCCTTCTCCCTCCCCCTTCTCCCCCTCTTCCTCCCCTTCCCCCCTCCTCT TCCCCCCTCCTCCTCCTCCCCTTCCCCCTCCCATTACCCCTTCTCCTCCT CCTCTTCCTCCCCCTCCTCCTCTTCTTCCTCCTCTTCCCTCTCCTCCTCC TCCCCCTCCTCCCCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGCGATGA GAATACAGTATGATGATTCACCCTTCCCCTCCCCCTCCCCCTCCCTCCTC CTCCCCCTACTCTTCCTCCCCCTCCTCCTCCCTCTCCCCTCCCTCTCCTT CCCCTCCCTCCTCCTCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCT CCTCTTCTTCCTCCCTTCCCCCTCCTCCTCCTCCCTCTCCTCCTCCTCCC CCTGTTCCCCTTTTCCTCTGGAAGGTGATGAGAGTACAGTATGATGATTC ACCCTCCCCCCCCCTCCTCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 HG02965.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0004 a0002c0004t0003 a0002c0002t0004 a0002c0004t0003	a0002c0002t0004g0068 a0002c0004t0003g0034 a0002c0002t0004g0068 a0002c0004t0003g0034	2	106	0.0189	531	c.169 others(550): Show c.169+98694_169+98695insTTTCTCCCCTTCCCCCTCCCCCCTCC TCTGTCTTCCCCCTACTCCTCCCCTTCTCCCTCCCCCTTCTCCCCCTCTT CCTCCCCTTCCCCCCTCCTCTTCCCCCCTCCTCCTCCTCCCCTTCCCCCT CCCATTACCCCTTCTCCTCCTCCTCTTCCTCCCCCTCCTCCTCTTCTTCC TCCTCTTCCCTCTCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTGTTCCCC TTTTCCTCTGGAAGGCGATGAGAATACAGTATGATGATTCACCCTTCCCC TCCCCCTCCCCCTCCCTCCTCCTCCCCCTACTCTTCCTCCCCCTCCTCCT CCCTCTCCCCTCCCTCTCCTTCCCCTCCCTCCTCCTCCTCCCCCTCCCCT CCTCCTCCTCTTCCCCCTCCTCCTCTTCTTCCTCCCTTCCCCCTCCTCCT CCTCCCTCTCCTCCTCCTCCCCCTGTTCCCCTTTTCCTCTGGAAGGTGAT GAGAGTACAGTATGATGATTCACCCTCCCCCCCCCTCCTCCCTCCCCCTC CCCTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(524): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19065.hp1 HG02080.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0232 a0001c0001t0001g0168 a0001c0001t0001g0232	2	402	0.0050	531	c.80- others(546): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(524): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02523.hp1 HG02056.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0174 a0001c0001t0001g0175	2	402	0.0050	531	c.80- others(546): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(524): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA TTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	402	0.0025	531	c.80- others(546): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATA TAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATTTA TTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAAT A	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(524): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGG AGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0070 a0001c0005t0007g0070	1	126	0.0079	531	c.416 others(552): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCC CTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTC CCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCACATCCCT CTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(524): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCAGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02109.hp2 others(28): Show HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0006 a0001c0002t0029	a0001c0001t0001g0036 a0001c0001t0004g0030 a0001c0001t0004g0037 others(26): Show a0001c0001t0001g0036 a0001c0001t0004g0030 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0005g0002 a0001c0001t0005g0006 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0035 a0001c0001t0010g0002 a0001c0002t0006g0014 a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0002t0006g0017 a0001c0002t0006g0019 a0001c0002t0029g0018	31	288	0.1076	531	c.-7- others(546): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCAGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGTGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC C	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(524): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTGCTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCAGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTGGGTCA GCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0045 a0001c0001t0005g0045	1	288	0.0035	531	c.-7- others(546): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTGCTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCAGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGTGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAG CCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC C	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)