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
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(530): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATACGTATATA CACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATATACGTATATACACATATATATACATGTATATATATATATG TGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	383	0.0052	537	c.-42 others(548): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATACGTATATACACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATATACGTATATACACATATATATACAT GTATATATATATATGTGTATATATACATGTATATATACATATATATACAT GTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(530): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATATACGTATATACACATATATACACATGTATATATATATATG TGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	383	0.0026	537	c.-42 others(548): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATATACGTATATACACATATATACACAT GTATATATATATATGTGTATATATACATGTATATATACATATATATACAT GTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(530): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATATACATGTATATATACGTACGTATA TATACACATATATACATGTGTATATATGTGTATATATACACATATATACA TGTATATATATATACGTATATATACATATATACGTATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATATACGTATATACACATATATATACATGTATATATATATATG TGTATATATACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	383	0.0026	537	c.-42 others(548): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATATACATGTAT ATATACGTACGTATATATACACATATATACATGTGTATATATGTGTATAT ATACACATATATACATGTATATATATATACGTATATATACATATATACGT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATATACGTATATACACATATATATACAT GTATATATATATATGTGTATATATACATGTATATATACATATATATACAT GTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ZNF888_chr19_52899415_52928428	52919934	T T	TCCGGGAG others(530): Show TCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCGCCCGGCCAGCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGTCCGGCCGCCCCTACTGGGAAGTGAGG ACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCAGTCTGGGAGGGAGGTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0037 a0001c0004t0037	a0001c0004t0037g0139 a0001c0004t0037g0139	1	426	0.0024	537	c.-17 others(554): Show c.-177-998_-177-997insTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGG CAGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCT CACCTCCCGGACGGGGCGCTGGCCGGGCGGGGGGCTGACCACCCCCACCT CCCTCCCGG	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ZNF888_chr19_52899415_52928428	52919934	T T	TCCGGGAG others(530): Show TCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCGCCCGGCCAGCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGTCCGGCCGCCCCTACTGGGAAGTGAGG ACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCAGTCTGGGAGGGAGGTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0015 a0002c0003t0015	a0002c0003t0015g0058 a0002c0003t0015g0058	1	426	0.0024	537	c.-17 others(554): Show c.-177-998_-177-997insTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGGG CAGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCCT CACCTCCCGGACGGGGCGCTGGCCGGGCGGGGGGCTGACCACCCCCACCT CCCTCCCGG	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975591	A A	ATAAATAT others(531): Show ATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTT ATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGAT AAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAAT ATATAAATATTTATATATTTATCGATAAATATATAAATATTTATATATTT ATAGATAAATATATAAATATATAAATATTGTTATATTTATAGATAAATAT ATAAATATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTT ATATTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGAT AAATATATCAATATATAAATATTTTTATATTTCTAGATAAATATATCAAT ATATAAATATTTTTATATTTATAGATAAATATATCAATATTTTTATATTT ATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATAT TTTTATATTTAAATATTTATAGATAAATATATAAATATT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	306	0.0033	538	c.130 others(555): Show c.1308+985_1308+986insAATATTTATATATTTATCTATAAATATT TAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATA TATTTATCTATAAATATAAAAATATTGATATATTTATCTATAAATATAAA AATATTTATATATTGATATATTTATCTAGAAATATAAAAATATTTATATA TTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTA TCTATAAATATAAAAATATTTATATATTGATATATTTATCTATAAATATA AAAATATTTATATATTTATCTATAAATATAACAATATTTATATATTTATA TATTTATCTATAAATATATAAATATTTATATATTTATCGATAAATATATA AATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATA TTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTA TCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATA AAAATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC6_chr16_16144565_16228494	16172318	T T	TGGGATGG others(531): Show TGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGATGG ATAAATGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGATAAAT GAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGT GGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGA TAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAATGGG TGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGG ATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA ATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAAATGGGTGG GTGGGATGGATAAATGGGTGGGTGGAATGGATAAATGAGTGGGTGGGATG GATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATG AGTGGGTGGGATGGCTAAATGAGTGGGTGGGATGGATAA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	357	0.0028	538	c.278 others(555): Show c.2787+965_2787+966insTTATCCATCCCACCCACTCATTTAGCCA TCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCC ACTCATTTATCCATCCCACCCACTCATTTATCCATTCCACCCACCCATTT ATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTAGCCATCC CACCCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACC CATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATC CATCCATCCCACCCATTTATCCATCCCACCCACCCATTTATCCATCCCAC CCACTCATTTATCCATCCCACCCACTCATTTAGCCATCCCACCCACTCAT TTATCCATCCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCAT CCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCATCCCA CCCCCATTTATCCATCCCACCCACTCATTTATCCATCCCACCCACTCATT TATCCATCCC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(531): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0065 a0002c0002t0067 a0002c0002t0065 a0002c0002t0067	a0002c0002t0065g0219 a0002c0002t0067g0068 a0002c0002t0065g0219 a0002c0002t0067g0068	2	262	0.0076	538	c.775 others(553): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(531): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATTCACCCATCCATTCA TCCATTCACCCACCCATTCATCCATCCACCCATCCATTCATCCATTCACC CATCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02809.hp2 NA19240.hp1 HG01071.hp2 HG02809.hp2 NA19240.hp1	a0006 a0015 a0006 a0015	a0006c0007 a0015c0014 a0006c0007 a0015c0014	a0006c0007t0013 a0015c0014t0025 a0006c0007t0013 a0015c0014t0025	a0006c0007t0013g0056 a0006c0007t0013g0241 a0015c0014t0025g0230 a0006c0007t0013g0056 a0006c0007t0013g0241 a0015c0014t0025g0230	3	262	0.0115	538	c.775 others(553): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGATGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGTGG GTGAATGGATGAATGGATGGGTGAATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ASMTL_chrX_1398139_1457909	1432814	G G	GCGAGACT others(531): Show GCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCC GAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAAC ATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGT GGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCG CTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCA CTCCAGCCTGGGCCACAGATCGAGACTCCGTCTCTAAAAAAAACAAAAGA AACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTT CGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCCAGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAG CCGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0123 a0004c0010t0001g0123	1	185	0.0054	538	c.401 others(553): Show c.401-438_401-437insATCTGTGGCCCAGGCTGGAGTGCAGTGGTG CGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCCCGCCACCACGCCTG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGG CTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAA ACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGATCTGTGGCCC AGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAG GTGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGG TTTCGCCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCC ATCCGCCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACG GAGTCTCG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCAAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCAGGCGTGGTGGCATGCACCTGTCATCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	185	0.0054	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TCGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGATGACAGGTGCATGCCACCACGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTTGCTCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCAAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02293.hp1 homoSapiens_chm13v2.hp1 HG01975.hp2 HG02293.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0002 a0003	a0002c0004 a0003c0005 a0002c0004 a0003c0005	a0002c0004t0001 a0003c0005t0001 a0002c0004t0001 a0003c0005t0001	a0002c0004t0001g0077 a0002c0004t0001g0089 a0003c0005t0001g0010 a0002c0004t0001g0077 a0002c0004t0001g0089 a0003c0005t0001g0010	3	185	0.0162	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TCGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTTGCTCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCAAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp1 HG01257.hp1 others(5): Show HG00323.hp2 HG00733.hp1 HG01257.hp1 HG02004.hp2 HG02135.hp1 HG02165.hp2 NA19057.hp2 NA19083.hp2	a0000 a0001 a0002 a0000 a0001 a0002	a0000c0007 a0000c0030 a0001c0001 others(1): Show a0000c0007 a0000c0030 a0001c0001 a0002c0003	a0000c0007t0001 a0000c0030t0001 a0001c0001t0001 others(1): Show a0000c0007t0001 a0000c0030t0001 a0001c0001t0001 a0002c0003t0001	a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 others(5): Show a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0092 a0000c0030t0001g0026 a0001c0001t0001g0121 a0002c0003t0001g0143 a0002c0003t0001g0153	8	185	0.0432	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTTGCTCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00544.hp2 others(21): Show HG00099.hp1 HG00438.hp2 HG00544.hp2 HG00741.hp1 HG01070.hp1 HG01123.hp1 HG01884.hp2 HG02080.hp1 HG02083.hp2 HG02559.hp2 HG02896.hp2 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp2 NA18952.hp1 NA18966.hp1 NA18971.hp2 NA18974.hp1 NA18984.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp1 NA19074.hp1	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0007	a0000c0007 a0001c0001 a0001c0011 others(7): Show a0000c0007 a0001c0001 a0001c0011 a0001c0035 a0001c0040 a0001c0042 a0002c0031 a0003c0002 a0003c0005 a0007c0017	a0000c0007t0001 a0001c0001t0001 a0001c0011t0001 others(8): Show a0000c0007t0001 a0001c0001t0001 a0001c0011t0001 a0001c0035t0001 a0001c0040t0001 a0001c0042t0001 a0002c0031t0001 a0003c0002t0001 a0003c0002t0002 a0003c0005t0001 a0007c0017t0001	a0000c0007t0001g0086 a0001c0001t0001g0021 a0001c0001t0001g0022 others(21): Show a0000c0007t0001g0086 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0011t0001g0178 a0001c0035t0001g0122 a0001c0040t0001g0099 a0001c0042t0001g0005 a0002c0031t0001g0131 a0003c0002t0001g0047 a0003c0002t0002g0183 a0003c0005t0001g0037 a0003c0005t0001g0139 a0007c0017t0001g0167 a0007c0017t0001g0168	24	185	0.1297	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTCATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	185	0.0054	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATGACAGGCACCCGCCACCACGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0016 a0004c0006t0001g0016	1	185	0.0054	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432859	C C	CGGCCGAG others(531): Show CGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGG CCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGC GTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATCGCTTGAACCCGGGAGGTGCAGGTTGCAGTGAGCCGAGATCGCGCCC CTGCATTCCAGCCTGGGCCACAGATCGAGACTCCATCTCTAAAAAAAACA AAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGACAG GGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAATCCCAGATACT TGGGAGGCTGAGGCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCA GTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCCACAGAGCGAGAC TCCATCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0038 a0005c0038	a0005c0038t0001 a0005c0038t0001	a0005c0038t0001g0113 a0005c0038t0001g0113	1	185	0.0054	538	c.401 others(553): Show c.401-483_401-482insTCCCAAACTGCTGTTTCTTTTGTTTTTTTT AGAGATGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATC TTGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTC AGCCTCCCAAGTATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGTCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGATGGAGTCTCGATCTGTGGCCCAGGCT GGAATGCAGGGGCGCGATCTCGGCTCACTGCAACCTGCACCTCCCGGGTT CAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432971	A A	ACCTGTCA others(531): Show ACCTGTCATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAC CCAGGAGGCGGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGC CTGGGCCACAGATCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCA GTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGGGGTTCGAGACC AGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCCAGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGAT CGCACCACTGCATTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCTAAA AAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAG AGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCT ACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGTG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0097 a0003c0005t0001g0097	1	185	0.0054	538	c.401 others(553): Show c.401-595_401-594insCACCCGCCACCACGCCTGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAAC CCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGCTGTTTCT TTTGTTTTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAATGC AGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTGAAGCGA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCCCGCCACC ACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTT GGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGC CGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGATCT GTGGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCC GCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ATGACAGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ATP11A_chr13_112685038_112892168	112873155	G G	GAACGGTG others(531): Show GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAACGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTG AGGTGTGGCTTTGATTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCT GAGTGGTGTGAGGTGTGGCTTTGTCTCCTGAGTGTTGTGAGGTGTTGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGA GATGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGCTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCTGGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTT TGTCTTCCTGAATGGTGTGAGGTGTGGCTTTGTCTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0019 a0001c0020 a0001c0019 a0001c0020	a0001c0019t0008 a0001c0020t0008 a0001c0019t0008 a0001c0020t0008	a0001c0019t0008g0051 a0001c0020t0008g0063 a0001c0019t0008g0051 a0001c0020t0008g0063	2	254	0.0079	538	c.305 others(555): Show c.3058-417_3058-416insACGGTGTGAGGTGTGGCTTTGTCTTCCT GAACGGTGTGAGGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCT TTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGATTTCCTGAGCGGTGTG AGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTTTGTCTCCTG AGTGTTGTGAGGTGTTGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCCTGAGTGGTGTGAGATGTGGCTTTGTCTTCCTGAGCGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGCTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGAGGTGTGGCTT TGTCTTCTGGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAGTGGTGTGA GGTGTGGCTTTGTCTTCCTGAGCGGTGTGAGGTGTGGCTTTGTCTTCCTG AGCGGTGTGAGGTGTGGCTTTGTCTTCCTGAATGGTGTGAGGTGTGGCTT TGTCTCCTTA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(531): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGG AAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAG GGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGC GGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGG GAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGG AGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0001 a0010c0018t0001g0001	1	300	0.0033	538	c.-70 others(547): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGA GGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAG GAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGG GGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGG GAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGA AGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAG GGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGA AG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(531): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATCTGTATACATATGTATACATATCT GTATACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGT ATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATACAT ATGTATACATATCTGTATACATATGTATACAGATCTGTATACATATGTAT ACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG02809.hp1 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0244 a0002c0002t0001g0245	2	342	0.0059	538	c.366 others(555): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATCTGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATCTGTATACA CATATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATACAGATATG TATACACATATGTATATACAGATATGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATATACA TATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATACA GATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(531): Show GTATACATATCTGTATATACATATCTGTATACATATCTGTATATACATAT CTGTATACATATGTATATACATATCTGTATACATATGTATACATATCTGT ATACATATGTATATACATATCTGTATACATATGTATATACATATCTGTAT ACATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATCTGTATACATATGTATACATATCT GTATACATATGTGTATACAGATCTGTATACATATGTGTATACAGATCTGT ATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTGTATACAGATCTGTATACATATGTGTATACATATCTGTATACAT ATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGTAT ACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp2 HG02896.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0246 a0002c0002t0001g0243 a0001c0001t0003g0246 a0002c0002t0001g0243	2	342	0.0059	538	c.366 others(555): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATCTG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATCTGTATACA CATATGTATACAGATATGTATACATATGTATACAGATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATACAGATATG TATACACATATGTATATACAGATATGTATACACATATGTATACAGATATG TATACATATGTATACAGATATGTATATACATATGTATACAGATATGTATA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATATACA TATGTATACAGATATGTATATACAGATATGTATACAGATATGTATATACA GATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C2orf80_chr2_208160347_208195030	208176907	G G	GTATACAT others(531): Show GTATACATATCTGTATATACATATCTGTATACATATGTATATACATATCT GTATACATATGTATATACATATCTGTATACATATGTATACATATCTGTAT ACATATGTATATACATATCTGTATACATATGTATATACATATCTGTATAC ATATGTATACATATCTGTATACATATGTGTATACATATCTGTATATACAT ATGTGTATACATATCTGTATATACATATGTGTATACATATCTGTATACAT ATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACATAT CTGTATACATATGTATACATATCTGTATACATATGTGTATACAGATCTGT ATACATATGTATACAGATCTGTATACATATGTGTATACATATCTGTATAC ATATGTGTATACATATCTGTATACATATGTGTATACATATCTGTATACAT ATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGTAT ACATATCTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	342	0.0029	538	c.366 others(555): Show c.366+3837_366+3838insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACACATATGTATACAGATATG TATACACATATGTATACAGATATGTATACACATATGTATACAGATCTGTA TACATATGTATACAGATCTGTATACACATATGTATACAGATATGTATACA TATGTATACAGATATGTATACAGATATGTATACACATATGTATACAGATA TGTATACACATATGTATACAGATATGTATACACATATGTATATACAGATA TGTATACACATATGTATATACAGATATGTATACACATATGTATACAGATA TGTATACATATGTATACAGATATGTATATACATATGTATACAGATATGTA TATACATATGTATACAGATATGTATACATATGTATACAGATATGTATATA CATATGTATACAGATATGTATATACATATGTATACAGATATGTATATACA GATATGTATA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C4orf50_chr4_5954375_6023431	6004363	A A	ATGGTGAC others(531): Show ATGGTGACTGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTGATGATGGTGGT GATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGAT GGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGAT GGTGATGGTGATGATGGTGATGGTGATGGTGATGATAGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATG ATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GATGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGA TGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0000 a0004c0003t0000	a0004c0003t0000g0225 a0004c0003t0000g0225	1	346	0.0029	538	c.963 others(555): Show c.963+3632_963+3633insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACATCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCATC ACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCAC CATCACCATCATCACCATCATCACTATCATCACCATCACCATCACCATCA TCACCATCACCATCATCACCATCATCACCATCATCACTATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACA TCATCACCATCACCACCATCATCAACATCACCATCACATCATCACCATCA CCATCATCACCATCATCACCATCACCATCACCATCATCACCATCACCATC ACAGTCACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CCDC183_chr9_136791338_136812741	136803215	G G	GGGGGCCC others(531): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0114 a0003c0003t0002g0114	1	398	0.0025	538	c.666 others(553): Show c.666+500_666+501insGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGG	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(531): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTACATATACACTATATATAGTAGTTATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGT TTATATATACTATATATACACTATATATAGTTTATATATACTATATATAC ACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTA TATACTATATATACACTATATATACTACTATATATAGTATATACTATATA TACACTATATATAGCATATATACTATATATACACTATATATAGTAGTTAT ATATACTATATATACACTATACATACACTATATATAGTTTATATATACTA TATATAGTTTATATATATACTATATATACTATATATAGTTTATATATATA CTATATATACTATATATAGTTTATATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0273 a0004c0019t0001g0273	1	396	0.0025	538	c.349 others(553): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTACATATACACTATATATAGTAGTTATATATACTATATA TACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTTT ATATATACTATATATACACTATATATAGTTTATATATACTATATATACAC TATATATAGTAGTTATATATACTACTATATATACTACTATATATAGTATA TACTATATATACACTATATATACTACTATATATAGTATATACTATATATA CACTATATATAGCATATATACTATATATACACTATATATAGTAGTTATAT ATACTATATATACACTATACATACACTATATATAGTTTATATATACTATA TATAGTTTATATATATACTATATATACTATATATAGTTTATATATATACT ATATATACTATATATAGTTTATATATATACTATATATACTATATATAGTA GTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(531): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAA GCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGTG TGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTG GTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAG CGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATCGGAAGCGTGTTGCG GTGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGTGAT TGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0005 a0005	a0005c0025 a0005c0025	a0005c0025t0011 a0005c0025t0011	a0005c0025t0011g0099 a0005c0025t0011g0099	1	106	0.0094	538	c.137 others(557): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGC TGATTGCATGGAAGTGTGTTGTGATTGTGTGGAAGCGTGATATCGCAGTG ATTGTGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCAC GGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGA TCGGAAGCGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGA AGCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGT GTGTCGTGATTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CELF1_chr11_47460937_47558132	47541791	A A	AAAGAAAG others(531): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAA GAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAA GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAAAGAAAGAAGAAAGAGAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	340	0.0029	538	c.-15 others(559): Show c.-154+11200_-154+11201insCTTTCTTTCTTTCTTTCTCTCTTT CTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	CELF1	ENSG00000149187.19	transcript	ENST00000687097.1	protein_coding	1/14			chr11	TogoVar
CEP72_chr5_607340_658553	628625	C C	CAGGGAGT others(531): Show CAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGGAG AACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCCCCCTTCT TTGTGCAGCTTCTGGAGAACTCAGGTCACAGGCCCCGGGGAGTGTTCCCA GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTC CCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGA GAACTCAGGTTGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTC TTTGTGCAGCTTCTGGAGAACTCAGGTCACAGGCCCCGGGGAGTGTTCCC AGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGT TCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGG AGAACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTT CTTTGTGCAGCGTTCTGGAGAACTCAGGTTGCCGTCCCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	91	0.0110	538	c.512 others(555): Show c.512+4046_512+4047insAGGGAGTGGCCCCAGGACCCAGCGCCCT TCTTTGTGCAGCGTTCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGGC CCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCAC AGGCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCC CTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGT TCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCA CAGGCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTT CTGGAGAACTCAGGTTGCAGTTCCCGGGGAGTGTTCCCAGGACCCAGCCC CCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCCGTCCCCAGGGAGTG GCCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGGAGAACTCAGGT TGCCGTCCCT	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11			chr5	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(531): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTG AGGTGTGACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCG TGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	91	0.0110	538	c.177 others(557): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTG GACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG TGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCATGGA CTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGTGAGGCGTGGAC TGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGTGTGACT GTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIP2A_chr3_108544864_108594438	108575529	C C	CGTATATA others(531): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTA TATACACGTATATATACTCATATACATGTGTGTATATACACGTATATATA CTCATATACATGTGTGTATATACACGTATATATACTCATATACATGTGTG TATATACACGTATATATACTCATATACGTGTGTATATACACGTATATATA CTCATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0249 a0001c0001t0002g0249	1	372	0.0027	538	c.894 others(553): Show c.894+741_894+742insACGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC GTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATAC GTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACAT GTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATAT ACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATAC	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
COL17A1_chr10_104026286_104090880	104036145	G G	GGAGTGTG others(531): Show GGAGTGTGTGTGTCTATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTG TGCGTATGGGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAG AGTGTGTGTGTATGGGAGTGTATGGGGTGTGTGTATGACTGTGTATGGGT GTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATGTGTGTAT GGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTGTGTGTAT GGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGGGAGTGTA TGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGGGAGTATG GGAGTGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGG AGTGTGAGTATGGGTGTGTGTGTGTATGGGAGTGAGTGTGTGTATGGGAG TGTGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGTATGGGAGTG TGAGTATGGGTGTGTGTGTATGGGAGTGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	336	0.0030	538	c.341 others(555): Show c.3418+346_3418+347insACACACACACTCACTCCCATACACACAC ACCCATACTCACACTCCCATACACACACACTCACTCCCATACACACACAC CCATACTCACACTCCCATACACACACTCACTCCCATACACACACACACCC ATACTCACACTCCCATACACACACACTCACTCCCATACACACACACCCAT ACTCACACTCCCATACTCCCATACACACACCCATACTCACACTCCCATAC ACACACACCCATACACTCCCATACACACTCCCATACACAACCCATACTCA CACTCACTCCCATACACACACACCCATACACTCCCATACACACACTCACT CCCATACACCCATACACACATCCATACTCACACTCCCATACACACACTCC CATACACACACACCCATACACAGTCATACACACACCCCATACACTCCCAT ACACACACACTCTCCCATACACACACCCATACTCACACTCCCATACACAC ACCCATACGCACACTCCCACTCACACTCACTCCCATACACTCCCATAGAC ACACACACTC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098670	T T	TATAAATA others(531): Show TATAAATATATAAAAATATATATAAATATATATAAATATAAAAATATATA TAAATATATAAATATATATAAGTATATAAATATATATAAATATATATAAG TATATATAAATATATATAAGTATATATAAGTATATATAAATATATATAAA TATATATAAGTATATATAAGTATATATAAATATATATAAATATATGCAAA TATATATAAATATATATATAAATAGATATATAAATATATATAAATAGATA TAAATAGATATATAAATACATATATAAATATATATAAATACATATATAAA TATATATAAATATATAAATTTATATAAATACATATATAAATATATAAATA AATATATATATATATATAAATATGTATAAATATATAAATATATATAAATA TACATATAAATATATAAATATATAAATATATATAAATATATAAATATATA TAAATATATAAATATATAAATATATATAAATATATAAATATATATAACTA TATATGTAAATATATAAATATATATAAATATATATGTAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0090 a0006c0011t0004g0090	1	264	0.0038	538	c.181 others(557): Show c.1812+2801_1812+2802insTTACATATATATTTATATATATTTAT ATATTTACATATATAGTTATATATATTTATATATTTATATATATTTATAT ATTTATATATTTATATATATTTATATATTTATATATATTTATATATTTAT ATATTTATATGTATATTTATATATATTTATATATTTATACATATTTATAT ATATATATATATTTATTTATATATTTATATATGTATTTATATAAATTTAT ATATTTATATATATTTATATATGTATTTATATATATTTATATATGTATTT ATATATCTATTTATATCTATTTATATATATTTATATATCTATTTATATAT ATATTTATATATATTTGCATATATTTATATATATTTATATATACTTATAT ATACTTATATATATTTATATATATTTATATATACTTATATATACTTATAT ATATTTATATATACTTATATATATTTATATATATTTATATACTTATATAT ATTTATATATTTATATATATTTTTATATTTATATATATTTATATATATTT TTATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(531): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAGGGGGCAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0090 a0003c0090	a0003c0090t0004 a0003c0090t0004	a0003c0090t0004g0325 a0003c0090t0004g0325	1	344	0.0029	538	c.85- others(555): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCC TGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGC CTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTTCCCTTCCTGCCTGCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL5A1_chr9_134636803_134849843	134760365	A A	ACACATGC others(531): Show ACACATGCACACACACCACACATGCACACACACCACACATGCACACATAC GCATACACACCCACACACCCACACTCATACACACATGCACACACACCACA CATGCATACACACCCACGCACCCCCACACTCATACACACATGCACACACA CCACACATGCACACACGCATACACACCCACACCCCCCCCACTCACACACA CGCACACCCCCACACCCCCACACTCATACACACATGCACACACACCACAC AGGCACACACACACCCACGCACCCCCACACTCATACATGCACACACACGC ATACACGCCCACACACCCCCATACTCATACACGCCCACACACCCCCACAC TCACATGTGCACAGACACCACACATGCACACACATACATGCACACACACA TACACACCCACACCCCCACACTCATACACACATGCACACACCACACATGC GCGCACACGCATACACACCCACACACCCCACAGATACACACATGCACACA CGCACACACCCCCACACCCCCCACACTCATACACACATG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0014 a0014	a0014c0053 a0014c0053	a0014c0053t0029 a0014c0053t0029	a0014c0053t0029g0134 a0014c0053t0029g0134	1	272	0.0037	538	c.193 others(557): Show c.1936-1556_1936-1555insTGCACACACACCACACATGCACACAC ACCACACATGCACACATACGCATACACACCCACACACCCACACTCATACA CACATGCACACACACCACACATGCATACACACCCACGCACCCCCACACTC ATACACACATGCACACACACCACACATGCACACACGCATACACACCCACA CCCCCCCCACTCACACACACGCACACCCCCACACCCCCACACTCATACAC ACATGCACACACACCACACAGGCACACACACACCCACGCACCCCCACACT CATACATGCACACACACGCATACACGCCCACACACCCCCATACTCATACA CGCCCACACACCCCCACACTCACATGTGCACAGACACCACACATGCACAC ACATACATGCACACACACATACACACCCACACCCCCACACTCATACACAC ATGCACACACCACACATGCGCGCACACGCATACACACCCACACACCCCAC AGATACACACATGCACACACGCACACACCCCCACACCCCCCACACTCATA CACACATGCACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	18/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240924342	C C	CCCCTCAC others(531): Show CCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTA ACCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCA CACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCT CACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCC CCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGG CCCCCACACTAATCCGGCCCCCACACTAACCCGGCCCCTCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCACACTGACCCAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0203 a0009c0010t0001g0203	1	350	0.0029	538	c.489 others(555): Show c.489-1379_489-1378insTCACACTAACCCGGCCCCCCACACTAAC CCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACAC TGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCAC ACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCC ACACTAATCCGGCCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCC CACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCA GTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACCC GGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTGA CCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACT GACCCAGCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(531): Show TGAGGAAGAGGGATGTGAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGG GGAGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGA GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGG AGGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0054 a0001c0108t0054	a0001c0108t0054g0074 a0001c0108t0054g0074	1	126	0.0079	538	c.416 others(559): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCC CCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCC TCTCCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTCA CATCCCTCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DOC2B_chr17_137789_186650	139431	G G	GTGGGGAC others(531): Show GTGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAACACACGTGTGAAAGTCCCCACAGAGGGGC ACGCAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACC CACACACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAG AGGGGCACGCAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACA CACACAGACCCACATACAGAGGATCCCACTCAAGAAGCACAAGTGCGAAA GTCCCCACAGAGGGGCACGCAAATGGGGACATCAGGAACACACTCAGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGAAGCAC AAGTGCGAAAGTCCCCACAGAGGGGCACGCAAATGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACACACAGAGGATCCCACTCAAG GAGCACACGTGCGAAAGTCCCCACAGAGGGACACACAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0109 a0001c0001t0013g0109	1	339	0.0030	538	c.80 others(549): Show c.8009_*8010insTTTGTGTGTCCCTCTGTGGGGACTTTCGCACGTG TGCTCCTTGAGTGGGATCCTCTGTGTGTGGGTCTGTGTGTGTGGCTGTGG CCCTGTGTTCCTGATGTCCCCATTTGCGTGCCCCTCTGTGGGGACTTTCG CACTTGTGCTTCTTGAGTGGGATCCTCTGTATGTGGGTCTGTGTGTGTGG CTGTGGCCCTGAGTGTGTTCCTGATGTCCCCATTTGCGTGCCCCTCTGTG GGGACTTTCGCACTTGTGCTTCTTGAGTGGGATCCTCTGTATGTGGGTCT GTGTGTGTGGCTGTGGCCCTGAGTGTGTTCCTGATGTCCCCATTTGCGTG CCCCTCTGTGGGGACTTTCGCACGTGTGCTCCTTGAGTGGGATCCTCTGT GTGTGGGTCTGTGTGTGTGGCTGTGGCCCTGTGTTCCTGATGTCCCCATT TGCGTGCCCCTCTGTGGGGACTTTCACACGTGTGTTCCTTGAGTGGGATC CTCTGTATGTGGGTCTGTGTGTGTGGCTGTGGCCCTGTGTTCCTGATGTC CCCA	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3357		chr17	TogoVar
DOC2B_chr17_137789_186650	139491	C C	CACTCAAG others(531): Show CACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGGGCACGCAAATGG GGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGAAGCACAAGTGCGAAAGTCCCCACAGAGGGGC ACACAAATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACACA GACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCC ACAGAGGGGCACACAAGTGGGGACATCAGGAACACAGGGCCACAGCCACA CACACAGACCCACATACAGAGGATCCCACTCAAGGAACACACGTGTGAAA GTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACA GCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGT GCGAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGG GCCACAGCCACACACACAGACCCACATACAGAGGATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01167.hp1 HG00280.hp2 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0268 a0001c0002t0016g0269 a0001c0002t0016g0268 a0001c0002t0016g0269	2	339	0.0059	538	c.79 others(549): Show c.7949_*7950insAGGATCCTCTGTATGTGGGTCTGTGTGTGTGGCT GTGGCCCTGTGTTCCTGATGTCCCCATTTGTGTGTCCCTCTGTGGGGACT TTCGCACGTGTGCTCCTTGAGTGGGATCCTCTGTATGTGGGTCTGTGTGT GTGGCTGTGGCCCTGTGTTCCTGATGTCCCCATTTGTGTGTCCCTCTGTG GGGACTTTCACACGTGTGTTCCTTGAGTGGGATCCTCTGTATGTGGGTCT GTGTGTGTGGCTGTGGCCCTGTGTTCCTGATGTCCCCACTTGTGTGCCCC TCTGTGGGGACTTTTGCACGTGTGCTCCTTGAGTGGGATCCTCTGTATGT GGGTCTGTGTGTGTGGCTGTGGCCCCGAGTGTGTTCCTGATGTCCCCATT TGTGTGCCCCTCTGTGGGGACTTTCGCACTTGTGCTTCTTGAGTGGGATC CTCTGTATGTGGGTCTGTGTGTGTGGCTGTGGCCCTGAGTGTGTTCCTGA TGTCCCCATTTGCGTGCCCCTCTGTGGGGACTTTCGCACGTGTGCTCCTT GAGT	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3297		chr17	TogoVar
DOCK1_chr10_126900428_127457516	126948008	G G	GTGGTGAT others(531): Show GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTG GTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACT GTTGGTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0058 a0002c0058	a0002c0058t0002 a0002c0058t0002	a0002c0058t0002g0011 a0002c0058t0002g0011	1	136	0.0074	538	c.47- others(555): Show c.47-22689_47-22688insATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT GGTTGGTAGTATTACTGTTGGTGGTGGTGATGGTGGTGGTTGGTAGTATT ACTGTTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	51015808	C C	CTATATAT others(531): Show CTATATATGATATATATATCATATATTTCTATATATGATATATATATCAT ATATTTCTATATATGATATATATATCATATATTTCTATATATGATATATA TATCATATATTTCTATATATGATATATATATCATATATTTCTATATATGA TATATATATCATATATTTCTATATATGATATATATATCATATATTTCTAT ATATGATATATATATCATATATTTCTATATATGATATATATATCATATAT ATGATATATATATCATATATTTCTATATATGATATATATATCATATATAT GATATATATATCATATATTTCTATATATGATATATATATCATATATTTCT ATATATGATATATATATCATATATTTCTATATATGATATATATATCATAT ATTTCTATATATGATATATATATCATATATATGATATATATATCATATAT ATGATATATATATCATATATTTCTATATATGATATATATATCATATATAT GATATATATATCATATATTTCTATATATGATATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	212	0.0047	538	c.316 others(557): Show c.316-48596_316-48595insATCATATATTTCTATATATGATATAT ATATCATATATTTCTATATATGATATATATATCATATATTTCTATATATG ATATATATATCATATATTTCTATATATGATATATATATCATATATTTCTA TATATGATATATATATCATATATTTCTATATATGATATATATATCATATA TTTCTATATATGATATATATATCATATATATGATATATATATCATATATT TCTATATATGATATATATATCATATATATGATATATATATCATATATTTC TATATATGATATATATATCATATATTTCTATATATGATATATATATCATA TATTTCTATATATGATATATATATCATATATTTCTATATATGATATATAT ATCATATATATGATATATATATCATATATATGATATATATATCATATATT TCTATATATGATATATATATCATATATATGATATATATATCATATATTTC TATATATGATATATATAATATATATGATATATATATCATATATTTCTATA TATGATATATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DPEP1_chr16_89608642_89643433	89634737	C C	CCCTTCCT others(531): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCATTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTT CCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCT TCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTT CCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp2 HG01070.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0058 a0001c0001t0001g0062	2	250	0.0080	538	c.105 others(555): Show c.105-1169_105-1168insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCATTCCTTCTCCTTTCCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCTCTTCCTTCCCTTT CCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(531): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA CGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02630.hp2 others(1): Show HG01884.hp2 HG02280.hp1 HG02630.hp2 NA19030.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0148 a0009c0010t0001g0149 a0009c0010t0001g0150 others(1): Show a0009c0010t0001g0148 a0009c0010t0001g0149 a0009c0010t0001g0150 a0009c0010t0001g0151	4	290	0.0138	538	c.757 others(555): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT CCCTTCCCTCGTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCC CTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCT CCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCT CCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCC TCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCC TTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCC CTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(531): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02886.hp2 HG02896.hp2 others(2): Show HG01069.hp1 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03540.hp2	a0002 a0016 a0002 a0016	a0002c0002 a0016c0026 a0002c0002 a0016c0026	a0002c0002t0001 a0016c0026t0001 a0002c0002t0001 a0016c0026t0001	a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0123 others(2): Show a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0123 a0002c0002t0001g0133 a0016c0026t0001g0152	5	290	0.0172	538	c.757 others(555): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTCCCTTCC CTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCCTTCCCTCCT CCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCCTTCCCTCCT CCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCCTTTCCCTCC TCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCC TTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTCCCTCCCTCC CTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EXD3_chr9_137301896_137428162	137328176	A A	ACCCATAT others(531): Show ACCCATATGATGAGTAAAACAACTAATATACTCCCATATGATGAGTAAAA ACAACTAATATATACCCACATGATGAGTAAAACAACTAATATACTCCCAT ATGATGAGTAAAACAACTAATATACTCCCATAAGATGAGTAAAAACAACA AATATACACCAACATGATGAGTAAAAAAAACGAATATACACCCACATGAT GAGTGAAAACAAAAAATATACACCCCCATGATGAGTAAAAACAACTAATA TACACCCATATGATGAGTAAAAACAATGAATATACAGACACATGGTGAGT AAAACAACTAATATACACCCATATGATGAGTAAAAACAACTAATAAACAC CCACATGATGAGTAAAAACAACGAATAAACAACCACATGATGAGTAAAAA CAACTAATAAACACCCATATGATGAGTAAAAACAACGAATAAACACCCAT ATGATGAGTAAAACAACTAATATACTCCCATATGATGAGTAAAAACATCG AATAAACACCCATATGATGAGTAAAACAACTAATATACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01975.hp1 HG03139.hp1 others(2): Show HG00423.hp2 HG01975.hp1 HG03139.hp1 NA18951.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0022 a0002 a0003 a0022	a0002c0002 a0003c0003 a0022c0015 a0002c0002 a0003c0003 a0022c0015	a0002c0002t0001 a0003c0003t0001 a0022c0015t0001 a0002c0002t0001 a0003c0003t0001 a0022c0015t0001	a0002c0002t0001g0031 a0002c0002t0001g0076 a0002c0002t0001g0081 others(2): Show a0002c0002t0001g0031 a0002c0002t0001g0076 a0002c0002t0001g0081 a0003c0003t0001g0073 a0022c0015t0001g0072	5	82	0.0610	538	c.199 others(557): Show c.1999-4034_1999-4033insAGTATATTAGTTGTTTTACTCATCAT ATGGGTGTTTATTCGATGTTTTTACTCATCATATGGGAGTATATTAGTTG TTTTACTCATCATATGGGTGTTTATTCGTTGTTTTTACTCATCATATGGG TGTTTATTAGTTGTTTTTACTCATCATGTGGTTGTTTATTCGTTGTTTTT ACTCATCATGTGGGTGTTTATTAGTTGTTTTTACTCATCATATGGGTGTA TATTAGTTGTTTTACTCACCATGTGTCTGTATATTCATTGTTTTTACTCA TCATATGGGTGTATATTAGTTGTTTTTACTCATCATGGGGGTGTATATTT TTTGTTTTCACTCATCATGTGGGTGTATATTCGTTTTTTTTACTCATCAT GTTGGTGTATATTTGTTGTTTTTACTCATCTTATGGGAGTATATTAGTTG TTTTACTCATCATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGT ATATATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTAC TCATCATATGGG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355694	G G	GAGGAAGG others(531): Show GAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGAT GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATG GAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAG GAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0020 a0011c0011t0001g0020	1	82	0.0122	538	c.757 others(553): Show c.757+573_757+574insTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCC TCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCC TCCTTCCT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM167A_chr8_11416476_11471753	11456222	A A	AGTGAGTG others(531): Show AGTGAGTGTGGGGGGTGGTTGCCTTGTGGGTATCAGTGTGAGTGTAAGGT GGTTGCCCTGCTGAGTGTGTATGGGTGTGAGTGTGGGGGGTGTTTGCCTT GCTGTGAGTGTGAGTGTGAGGGTTGGTTGCCTTGTGGGTATCAGTGTGAG TGTGAGGTGGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGTGGT TGCCCTGCTGGGTGCGTGTGTGGGGTGGTTGCTCTGCCTGGTGTGTGAGT GTGAGTGTGAGTGTGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAGTG TGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAATGTGGGGGGTGGTTG CCTTGCTGTGTGTGAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGTGTGT GAGTGTGAGTGTGGGGGGGTAGTTGCCTTGCTGGGTGTGTGAATGAGGGG TGGTTGCCTTGCTGTGCATGAGTGTGAGTGTGAGTGTCAGGGGTGGTTGC CCTGCTGGGGGTATGTGAGTGTTGGGTGGTTGCCTTGCT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	374	0.0027	538	c.-39 others(559): Show c.-398+10403_-398+10404insAGCAAGGCAACCACCCAACACTCA CATACCCCCAGCAGGGCAACCACCCCTGACACTCACACTCACACTCATGC ACAGCAAGGCAACCACCCCTCATTCACACACCCAGCAAGGCAACTACCCC CCCACACTCACACTCACACACAGCAAGGCAACTACCCCCCACACTCACAC TCACACACAGCAAGGCAACCACCCCCCACATTCACACTCACACACAGCAA GGCAACCACCCCCCACACTCACACTCACACACAGCAAGGCAACCACCCCC CACACTCACACTCACACTCACACACCAGGCAGAGCAACCACCCCACACAC GCACCCAGCAGGGCAACCACCCCACACTCACACCCATACACACCCAGCAG GGCAACCACCTCACACTCACACTGATACCCACAAGGCAACCAACCCTCAC ACTCACACTCACAGCAAGGCAAACACCCCCCACACTCACACCCATACACA CTCAGCAGGGCAACCACCTTACACTCACACTGATACCCACAAGGCAACCA CCCCCCACACTCAC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(531): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGAGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	308	0.0033	538	c.157 others(553): Show c.1576+40_1576+41insAGTCAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGAGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAG ACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGAC CACAGGGA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(531): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0215 a0001c0001t0007g0215	1	308	0.0033	538	c.157 others(553): Show c.1576+54_1576+55insGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTCAAAGGTGGGCGGGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGG AGGTCAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTC AAAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586256	G G	GGGGGGGA others(531): Show GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCGG AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGG GGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTTAAAGGTAGGCGGGGGGGA AAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAA TGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0005 a0016c0015t0005	a0016c0015t0005g0188 a0016c0015t0005g0188	1	308	0.0033	538	c.157 others(553): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCGGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTTAAAGG TAGGCGGGGGGGAAAGGAGGAGAACGGAGACCACAGGGAGGTCAAAGGTG GGCGGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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