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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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
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(860): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT ATTATATATTTTATATATAATATATATTTTATATATAATATATATATTTT ATATATAATATATATATAATATATAATATATATATTATATAAAATATATA ATATATATCTTATATATATCATATATTTTATATAATATATATTTTATATA TATCATATATTTTATATATAATATATATTATATATACATTATATAATATA TATTATATTATATATATTATATATTATATAATATATATTATATATTATAC GTAATATATAATGTATATTATATATAATATATTATGTATATAATGTATAT TATATATAATATACATTATATATAATGTATATTATATATAATATACATTA TATATAATGTATATTACATATAATATACATTGTATATAATGTATATATTA CATATAATATACATTGTATATAATGTATATATTACATATAATATACATTG TATATAATGTATATTATATGTAATATATACATTATATACAATGTATATTA TATGTAATATATACATTACATATAATGTATATTATATGTAATATATACAT TACATATAATGTATATTATATGTAATATATACATTACATATAATGTATAT TATATGTAATATATACATTACATAATGTATATTATATGTAATATATACAT TACATAATGTATATTATATGTAATATATACATTATATAATATATACATTG TATATAATGTATATTATATATAATATATACATTGTATATAATGTATATTA TATATAATATATACATTGTATATAATGTATATTATATATAATATATACAT TGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03130.hp1 HG03516.hp2 HG03098.hp1 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0034 a0001c0001t0003g0011 a0001c0001t0003g0034	3	350	0.0086	867	c.94- others(880): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATATTATATATTTTATATATAATATATATTTTATA TATAATATATATATTTTATATATAATATATATATAATATATAATATATAT ATTATATAAAATATATAATATATATCTTATATATATCATATATTTTATAT AATATATATTTTATATATATCATATATTTTATATATAATATATATTATAT ATACATTATATAATATATATTATATTATATATATTATATATTATATAATA TATATTATATATTATACGTAATATATAATGTATATTATATATAATATATT ATGTATATAATGTATATTATATATAATATACATTATATATAATGTATATT ATATATAATATACATTATATATAATGTATATTACATATAATATACATTGT ATATAATGTATATATTACATATAATATACATTGTATATAATGTATATATT ACATATAATATACATTGTATATAATGTATATTATATGTAATATATACATT ATATACAATGTATATTATATGTAATATATACATTACATATAATGTATATT ATATGTAATATATACATTACATATAATGTATATTATATGTAATATATACA TTACATATAATGTATATTATATGTAATATATACATTACATAATGTATATT ATATGTAATATATACATTACATAATGTATATTATATGTAATATATACATT ATATAATATATACATTGTATATAATGTATATTATATATAATATATACATT GTATATAATGTATATTATATATAATATATACATTGTATATAATGTATATT ATATATAATATATACATTGTATATAATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HELZ2_chr20_63553086_63579239	63571806	C C	CGGTGGGC others(860): Show CGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCCT ACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCTGCC TGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTGC CTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTGGCTCTG CCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTCT GCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCTC TGCCTGTGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAACCTCTGGCT CTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCTCTGGC TCTGCCTACGGTGGGCTCCTGCCCTACTCCAAGCTCCTGGGAACCTCTGG CTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTCTG GCTCTGCCTACGGTGGGCTCCTGCCCTGCTCCAAGCTCCTGGGAGCCTCT GGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAACCTC TGGCTCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACCT CTGGCTCTGCCTGTGGTGGGCTCCTGCCCCACTCCAAGCTCCTGGGAACC TCTGGCTCTGCCTACGGTGGGCTCCTGCCCCGCTCCAAGCTCCTGGGAGC CTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCCAGCTCCTGGGAG CCTCTGGCTCTGCCTGTGGTGGGCTCCTGCCCCGCTCCCAGCTCCTGGGA ACCTCTGGCTCTGCCTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0068 a0068	a0068c0068 a0068c0068	a0068c0068t0001 a0068c0068t0001	a0068c0068t0001g0238 a0068c0068t0001g0238	1	390	0.0026	867	c.278 others(882): Show c.278+301_278+302insACAGGCAGAGCCAGAGGTTCCCAGGAGCTG GGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAGCT GGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAGGAGC TTGGAGCGGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCAGGAG CTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGGA GCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCCAGG AGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGCTCCCAG GAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCCCA GGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTCCC AGGAGCTTGGAGTAGGGCAGGAGCCCACCGTAGGCAGAGCCAGAGGTTCC CAGGAGCTTGGAGTGGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTTC CCAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGTT CCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGGT TCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCACAGGCAGAGCCAGAGG TTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGAG GTTCCCAGGAGCTTGGAGCGGGGCAGGAGCCCACCACAGGCAGAGCCAGA GGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACCGTAGGCAGAGCCAG AGGTTCCCAGGAGCTTGGAGCAGGGCAGGAGCCCACC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	2/19			chr20	TogoVar
HOMEZ_chr14_23267422_23291132	23280740	A A	ATTTTATT others(860): Show ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0121 a0001c0011t0006g0121	1	394	0.0025	867	c.41- others(882): Show c.41-3554_41-3553insAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(860): Show CCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCGCCACCACCATCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCATCACCATCACCATCACCACCACCA CCACCACCACCACCACCACCACCATCACCATCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA TCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCATCACCATCATCACCACCACCACCACCACCGCCGCCACC ACCACCACCATCACCGCCACCACCATCACCATCACCACCACCACCATCAC CATCACCACCACCACCACCGCCACCGCCACCACCACCACCATCACCGCCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACC GCCACCACCACCACCATCACCGCCACCACCATCACCACCACCACCACCAC CACCACCATCACCATCACCATCATCACCACCACCACCACCACCACCACCA CCACCATCATCACCACCACCACCACCACCACCGCCACCGCCACCACCACC ACCGCCACCACCATCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCATCAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	314	0.0032	867	c.-25 others(884): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCGCCACCACCATCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCAC CATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCACCA CCATCACCACCACCACCACCACCACCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CACCACCATCACCATCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCGCCGCCACCACCACCACCATCACCGCCACCACCATCACCATCACC ACCACCACCATCACCATCACCACCACCACCACCGCCACCGCCACCACCAC CACCATCACCGCCACCACCATCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACC ACCACCACCACCACCACCACCATCACCATCACCATCATCACCACCACCAC CACCACCACCACCACCACCATCATCACCACCACCACCACCACCACCGCCA CCGCCACCACCACCACCGCCACCACCATCACCATCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCATCATCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(860): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCTCCCCCTCCCCCCTC TCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATCCCCTCCCCCTCTCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATCCGCCTCCCCCCTCTCC CCCTCCCCCATCCCCCTCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCCC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCT CCCCATCCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCTCCCC CCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCCTCC CCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCC CTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTC TCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCT CTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCT CTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	158	0.0063	867	c.11 others(888): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCT CCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCT CTCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCAT CCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATC CGCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCATCCCCC TCCCCTCCCCCCTCCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCCTCCCCATCCCCCTCCCCCCTCCCCCTCCCCCTCTC TCCCCCTCCCCTCCCCCCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCC TCTCTCTCCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTC CCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCC CCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCC CTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCC CTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284518	A A	AAAAATAA others(860): Show AAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAA TAATAAAGACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACT TTGGGAATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCC TGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTG GGCGTGGTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACG CCACTGCACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAA TAATAATAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATC CCAGCCCTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTC GAGACCAGCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAA AAATTAGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAA GCTGAGGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGC CAAGATCGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCC AGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCC GTCTCTACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTA ATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAA TTGGAGGTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCA ACGAGCGAAACTCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA19057.hp2 NA18943.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	2	408	0.0049	867	c.-30 others(878): Show c.-3035_-3034insAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAGTG CAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAACCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCAC CATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGGG ATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGGA GACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCAG GTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGAGC CACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGGA TTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCAC TGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAAT TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTC CTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTATAG GAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTATTATTTT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2897		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(860): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGACC TGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCA AAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATG GTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGC GAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTT GAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTG CAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATA ATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTG GGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTT GGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAG GTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGA AGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGC CAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAA AAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGC GGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAAC TCTGCCTAAAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	867	c.-30 others(878): Show c.-3037_-3036insATTATTATTTTAGGCAGAGTTTCGCTCGTTGCCC AGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCT GGGTTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAG GCATGCGCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAATGGCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCA CTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCT GAGTAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTA TTTGTAGTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACG CTCGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTA CAGGCGAGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATT ATTGAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAA TCTTGGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCC TCAGCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCT AATTTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATG GTCTTGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGC TGGGATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATT ATTATTATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(860): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAG ACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAAT CCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAAC ATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGT GGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTG CTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCA CTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATA ATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCT TTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAG CTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGC CAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGC AGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCG CGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGG CAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTAC TAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGT TGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGA AACTCTGCCTAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp2 HG00673.hp2 others(18): Show HG00140.hp1 HG00609.hp2 HG00673.hp2 HG01069.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG04184.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18961.hp1 NA18967.hp1 NA18978.hp1 NA18979.hp2 NA18994.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0028 a0001c0001t0002 a0001c0001t0005 a0001c0001t0028	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0028g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0028g0000	21	408	0.0515	867	c.-30 others(878): Show c.-3037_-3036insATTATTTTAGGCAGAGTTTCGCTCGTTGCCCAGG CTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGG TTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCA TGCGCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCA ATGGCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTG CAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAG TAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTT GTAGTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTC GACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAG GCGAGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(860): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATA AAGACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGG AATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCC AACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGT GGTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAA TTGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACT GCACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATA ATAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGC CCTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGAC CAGCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATT AGCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGA GGCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGA TCGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCT GGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTC TACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCC AGCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGA GGTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAG CGAAACTCTGCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG02027.hp1 HG02080.hp2 others(7): Show HG01258.hp1 HG02027.hp1 HG02080.hp2 HG03704.hp1 HG03704.hp2 NA18747.hp2 NA18953.hp2 NA18960.hp2 NA18965.hp2 NA18981.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0005 a0004c0008t0002 a0001c0001t0002 a0001c0001t0005 a0004c0008t0002	a0001c0001t0002g0000 a0001c0001t0005g0000 a0004c0008t0002g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0004c0008t0002g0000	10	408	0.0245	867	c.-30 others(878): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAG ACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGG CTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCC TCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTT TGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTG ATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGAT TATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATT ATTATTATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATTTATA others(860): Show CATTTATATATACATTTATATATACATATTTATATATATTTATATATATT TATAGATATATATTTATAGATATATATTTATATATATTTATTTATATTTA TATATATATTTATATATATTTATTTATATTTATATTTATATTTATATTTA TTTATATTTATATATATTTATATATTATATATATTATATATATTTATATA TATTTATATATATATTTATATAATAAATATATTTATATATATTTTATATA TATATTTATATATTTATATATATTTATATTTATATATTTATATATATTTA TATTTCTATTTATTTATATATATTTATATTTTATTTTTATATTATATATT AATATATATATATTATATTTATATATATTTATATTTATATATATTTATAT TTATATTTATATATATTTATAATTATATATATATATTTATAGACATATAT TTATATACATATTTATATATATTTATATACATATATTTATATATATATAT TTATATATATATTTATATACATATATTTATACATATATTATATATACATA TATTTATATATATATTTATATATATATTTATATACATATATTTATATATA TATTTATATATATATTTATATACATAATTTATATATATATATTTATATAC ATATATTTATATATTTATATATATTTATATATATTCATATTTATATTTAT ATATATTTATATATATATATTTATATTTATATATATATTTATATTTAATT ATATTTATATATATTTATATATATATTTATATTGTATATATTTATATATA TGTATTTTATATATATTTTATAATTTATATATTTATATTTATATATATCT ATATATTTATATATATTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0039 a0001c0002t0004g0039	1	242	0.0041	867	c.174 others(886): Show c.1749-3776_1749-3775insTTATATATACATTTATATATACATAT TTATATATATTTATATATATTTATAGATATATATTTATAGATATATATTT ATATATATTTATTTATATTTATATATATATTTATATATATTTATTTATAT TTATATTTATATTTATATTTATTTATATTTATATATATTTATATATTATA TATATTATATATATTTATATATATTTATATATATATTTATATAATAAATA TATTTATATATATTTTATATATATATTTATATATTTATATATATTTATAT TTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTATAT TTTATTTTTATATTATATATTAATATATATATATTATATTTATATATATT TATATTTATATATATTTATATTTATATTTATATATATTTATAATTATATA TATATATTTATAGACATATATTTATATACATATTTATATATATTTATATA CATATATTTATATATATATATTTATATATATATTTATATACATATATTTA TACATATATTATATATACATATATTTATATATATATTTATATATATATTT ATATACATATATTTATATATATATTTATATATATATTTATATACATAATT TATATATATATATTTATATACATATATTTATATATTTATATATATTTATA TATATTCATATTTATATTTATATATATTTATATATATATATTTATATTTA TATATATATTTATATTTAATTATATTTATATATATTTATATATATATTTA TATTGTATATATTTATATATATGTATTTTATATATATTTTATAATTTATA TATTTATATTTATATATATCTATATATTTATATATATTTAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(860): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATATT TTTATATATATTTATATATATTTTTATATATAGTTATATATATTTATATA TAGTTATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATT TATATATATAGTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTATA TATATTTATATGTATTTATATATATTTATATATATTTATATATATATATA TAAATATATTTATATATATAAATATAAATATTTATATATATTTATATATA TTTATATATATATTTATGTATATTTATATATATTTATATATATATTTATG TATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	260	0.0039	867	c.125 others(884): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATATATTTTTATATATATTTATATATATTTTTATATATA GTTATATATATTTATATATAGTTATATAGTTATATATATTTATATATAGT TATATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGT TATGTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATA TATAGTTATATATATATTTATATATATAGTTATATATTTATATATATTTA TATATATTTATATATATATTTATATATTTATTTATATATATTTATATATG TATTTATATATATTTATATATATTTATATGTATTTATATATATTTATATA TATTTATATATATATATATAAATATATTTATATATATAAATATAAATATT TATATATATTTATATATATTTATATATATATTTATGTATATTTATATATA TTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC7_chr1_69562922_70149364	69916109	T T	TATATATA others(860): Show TATATATATTATATACATATTTTGTATATAATATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATATTATATACATATTTTATATATATAATATATATATTATATACATAT TTTATATATATAATATATATTATATACATATTTTATATATATTATATATT ATATACATATTTCATATATATAATATATATATTATATACATATTTCATAT ATATAATATATATTATATACATATTTCATATATATAATATATATTATATA CATATTTCATATATAATATATATAATATACATATTTTATATATTATATAT ATTATATACATATTTTATATATTATATATATTATATACATATTTTATATA TTATATATATTATATACATATTTTATATATAATATATATAATATACATAT TTTATATATTATATACATATTTTATATATATAATATATATAATATACATA TTTTATATATATAATATATATAATATACATATTTTATATATATAATATAT ATAATATACATATTTTATATATAATATACATATTTTATATATATAATATA TATAATATACATATTTTATATATAATATATATTATATACATATTTTATAT ATATAATATATATTATATACATATTTTATATATATAATATATATTATATA CATATTTTATATATAATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATAATATATATTATATACATATTTTATA TATATAATATATATTATATACATATTTTATATATATAATATATATTATAT ACATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0074 a0001c0003t0074	a0001c0003t0074g0054 a0001c0003t0074g0054	1	108	0.0093	867	c.648 others(886): Show c.648-15376_648-15375insGTATATAATATATATATTATATACAT ATTTTATATATATAATATATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATATTATATACATA TTTTATATATATAATATATATTATATACATATTTTATATATATTATATAT TATATACATATTTCATATATATAATATATATATTATATACATATTTCATA TATATAATATATATTATATACATATTTCATATATATAATATATATTATAT ACATATTTCATATATAATATATATAATATACATATTTTATATATTATATA TATTATATACATATTTTATATATTATATATATTATATACATATTTTATAT ATTATATATATTATATACATATTTTATATATAATATATATAATATACATA TTTTATATATTATATACATATTTTATATATATAATATATATAATATACAT ATTTTATATATATAATATATATAATATACATATTTTATATATATAATATA TATAATATACATATTTTATATATAATATACATATTTTATATATATAATAT ATATAATATACATATTTTATATATAATATATATTATATACATATTTTATA TATATAATATATATTATATACATATTTTATATATATAATATATATTATAT ACATATTTTATATATAATATATATTATATACATATTTTATATATATAATA TATATTATATACATATTTTATATATAATATATATTATATACATATTTTAT ATATATAATATATATTATATACATATTTTATATATATAATATATATTATA TACATATTTTATATATATAATATATATTATATACATATTTT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MEGF6_chr1_3482951_3616508	3502017	G G	GCCTCACA others(860): Show GCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACACCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCGAGTGTGCCC CCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCCGCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCTGTGCCTCACATAGGCTCCTGGCG AGTGTGCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCGCCTCCTCACATGGG CTCCTGGCGAGTGTGCCCCCCCCCGCGCCTCCTCACATGGGCTCCTGGCG AGTGTGCCCCCCACGCCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	292	0.0034	867	c.218 others(882): Show c.2189-97_2189-96insAGGCGTGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGCGGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGCGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCT ATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCG GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGT GAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGTGGGGGGCACACTCGC CAGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTGA GGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGGCACACTCG CCAGGAGCCTATGTGAGGCACAGGGGGCACACTCGCCAGGAGCCCATGTG AGGAGGCGCGGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGG GGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAG GAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGA GGTGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MPPED1_chr22_43407014_43512848	43500184	A A	ATGATGGT others(860): Show ATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGG AGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGT GGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGA TGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAG GTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGT GGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGG TGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTG GTGGTGGTGATGGTGATGGAGGTGGTAATGGAGGTGGTGGTGGAGGTGGT GATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAG TGGTGGTGATGGAGGTGGTAATGGAGGTGGTGGGGGTGATGGTGGTGATG GTGATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGT GGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGCGATGGAGG TGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTG ATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGGA GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGATGGCGATGGAGGTGG TAGTGGTGGTGATGAAGG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	250	0.0040	867	c.748 others(884): Show c.748+1836_748+1837insATGGTGGTGATGGTGATGGAGGTGGCGG TGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGG AGGTGGTAATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGG GTGGTGGTGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGT AATGGAGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAG GTGGTGGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGT GGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTAATGG AGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTG ATGGTGATGGAGGTGGTAGTGGTGGTGATGGAGGTGGTAATGGAGGTGGT GGGGGTGATGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGA TGGTGATGGAGGTGGCGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTG GTGGTGATGGCGATGGAGGTGGTGATGGTGGTGGTGGAGGTGGTGGTGGT GATGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGG TGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGTG GTGATGGCGATGGAGGTGGTAGTGGTGGTGATGAAGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1F_chr19_8515778_8582442	8543960	G G	GTGGTGGT others(860): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGG TGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGCT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTG GTGGTGGTGGTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGG TGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTG CTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGT GGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGCTGGTGGTGCTGGTGG TGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGT GGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGATGGTGGTGCTGG TGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0267 a0001c0010t0003g0267	1	342	0.0029	867	c.152 others(884): Show c.1524+336_1524+337insGCACCACCAGCACCACCACCAGCACCAC CATCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCAGCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCAGCACCACC AGCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCAGCAC CACCAGCACCACCACCAGCACCACCAGCACCACCAGCACCACCAGCACCA CCACCACCACCACCACCACCACCACCACCAGCACCACCAGCACCACCAGC ACCACCACCACCACCACCACCACCAGCACCACCACCACCACCAGCACCAC CACCACCACCACCACCACCACCACCACCAGCACCACCAGCACCACCAGCA CCACCACCATCACCACCACCACCACCAGCACCACCACCACCACCACCAGC ACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCAG CACCACCAGCACCACCACCATCACCACCACCACCACCACCAGCACCACCA CCATCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACC ACCACCACCAGCACCACCACCACCACCACCACCAGCACCACCACCACCAC CACCAGCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAC CAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA GCACCACCACCACCACCACCACCACCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(860): Show CTGTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACT GTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACTGT ATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACTGTGT ACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATGTATACT GTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATATATA CACAGTATGTATACTGTGTATATATACACAGTATGTATACTGCATACAGT ATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTAT ACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACTATACAGTATGTATACTGTATATATACACAATAC AGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATA CACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTAT ATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0098 a0001c0007t0001g0098	1	362	0.0028	867	c.-75 others(886): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATG CAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATA CACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACATACAGTATACATACATACAGTATACATACATACAGTATACA TGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACAGTA TACATGCTGTACATGTATACAGTATACATGCTGTACATGTATACAGTATA CATGCTGTACATGTATACAGTATACATGCTGTACATGTATACAGTATACA TGCTGTACATGTATACAGTATACATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528443	G G	GGGGGGAT others(860): Show GGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGCGATGGGC AGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGGGCGATGG GCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAAGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGCGATGGGCAAGGACAGTGGGG GGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACA GTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGG GGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGATG GGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCGGGGGATGGGCAGG GACAGTGAGGGGGATGGGCAGGGACAGTGCGGGGGATGGGCAGGGACAGT GAGGGGGATGGGCAGGGACAGTGTTGGGGATGAGCAGGGACAGTGCGGGG GATGGGCAGGGACAGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0204	1	324	0.0031	867	c.141 others(884): Show c.141-4465_141-4464insTCACTGTCCCTGCCCATCCCCCGCACTG TCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTCACTGTCCCTG CCCATCCCCCGCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATC CCCCGCACTGTCCCTGCTCATCCCCAACACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTC CTTGCCCATCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCAT CCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCC CCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACTGT CCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCGCC CCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCACT GTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACCGTCCCTGC CCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACT GTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRXN3_chr14_78165373_79873291	79257563	T T	TGGTGGTG others(860): Show TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAATGGTGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGCGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA TGGTGGCGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGATAGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGG TGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0002 a0002c0005t0005g0002	1	24	0.0417	867	c.326 others(890): Show c.3263-209642_3263-209641insGTGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAA TGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTG ATGGTGGCGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGCGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGATGGTGGTGATAGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGAT GGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGATGGTGGCGGTGGTGGTGGTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
PIGR_chr1_206923522_206951466	206924611	T T	TGAGTGTG others(860): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTG TGTGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGT GTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCT CTGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGT GATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTG GTGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTG TGTGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGG TATGTAGTTATGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGT GTGTGCGCACTCTATGCTCTGTCTAGTGTGTGTGTGGTTGAGTGTGTGAG TGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTCTAGTGTGTGTGG TGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCATGAGTGT GTGTGCTCTGTAGAGTGTGTGAGTGTGTGGCGTGTGGCTATGAGTGTGTG TGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTACGAGTGTGTGTGTGC TCTGTCTAGTGTGTGTGGTGTGTGGTTATGTGTGTGGTGTGCATCCATGA GTGTGTGTATGCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0005 a0002c0002t0002g0005	1	402	0.0025	867	c.57 others(878): Show c.5706_*5707insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGTGCACACACACACTCATAGCCA CACGCCACACACTCACACACTCTACAGAGCACACACACTCATGGACACAC ACCACACACACAATCACACACACATAACCACACACCACACACACTAGACA GAGAACACACACACTCATAACTACACACCACACACTCACACACTCAACCA CACACACACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCAC ACACCACGCAGTGACACACACTCATAACTACATACCACACACAACACATA GCACACACACATAGCCACACACCACACATTCACACACACTCATAGCCACA CACCACACATTCACACACACTCATAGCCACACACCACACATTCACACACT CCACGGAGCACACACACACTCATGGACACACATCACACACACAATCACAC ACACATAACCACACACCACACACACACTAGACAGAGCACACACACTCATA GCCACACACCACACACACACTCCACAGAGCACACACACACACTCATAGCC ACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACACA CCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGCCACA CACTTACACACTCTACAGAGCACACACACACTCATGGACACACACCACAC ACACAATCACACACACATAACCACACACACACTAGACAGAGAACACACAC ACTCATAACTACACACCACACACTCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		3910		chr1	TogoVar
PJA2_chr5_109329722_109414974	109353988	T T	TGTCTATG others(860): Show TGTCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAG AGATATCTATAGATTAGATATCTATATCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATATCAAGAGAT GTCTATAGATTAGATATCTATATCTAGAGATGTCTATAGATTAGATATCT ATGATGTCTAGAGATGTCTATAGAGTAGATATCTATGATGTCTAGAGATT TCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGATAT CTATGATGTCTAGAGATATCTATAGATTAGATATCTATGATGTCTAGAGA TATCTATAGATTAGATATCTATGATGTCTAGAGATATCTATAGATTAGAT ATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGA GATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTAG ATATCTATGATATCTAGAGATATCTATAGATTAGATATCTATGCTATCTA GAGATATCTATAGATTAGATATCTGTGATATCTAGAGATATCTATAGATT GGATATCTATATCTAGAGATATCTATAGATTGGATATCTATGATATCTAG AGATATCTATAGATTAGATATCTATGATATCTAGAGATATCTATAGATTA GATGTCTATGATATCTAGAGATATCTATAGATTAGATAGATATCTAGAGA TATCTATAGATTAGATAGATATCTAGAGATATCTATAGATTAGATATCTA TGATATCTAGAGATATCTATAGATTAGATATCTATGATATCTAGAGATAT CTATAGATTAGATATCTA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	346	0.0029	867	c.176 others(886): Show c.1764+1926_1764+1927insTAGATATCTAATCTATAGATATCTCT AGATATCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATC TAATCTATAGATATCTCTAGATATCTATCTAATCTATAGATATCTCTAGA TATCTATCTAATCTATAGATATCTCTAGATATCATAGACATCTAATCTAT AGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATAT CATAGATATCCAATCTATAGATATCTCTAGATATAGATATCCAATCTATA GATATCTCTAGATATCACAGATATCTAATCTATAGATATCTCTAGATAGC ATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATCTA TAGATATCTCTAGATATCATAGATATCTAATCTATAGATATCTCTAGATA TCATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGACATCATAGATATCTAATCTATAGATATCTCTAGA CATCATAGATATCTAATCTATAGATATCTCTAGACATCATAGATATCTAA TCTATAGATATCTCTAGACATCATAGATATCTAATCTATAGAAATCTCTA GACATCATAGATATCTACTCTATAGACATCTCTAGACATCATAGATATCT AATCTATAGACATCTCTAGATATAGATATCTAATCTATAGACATCTCTTG ATATAGATATCTAATCTATAGATATCTCTAGATATCATAGATATCTAATC TATAGATATCTCTAGATATAGATATCTAATCTATAGATATCTCTAGATAT CATAGATATCTAATCTATAGATATCTCTAGATATCATAGAC	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9			chr5	TogoVar
PKP3_chr11_389209_409908	398341	C C	CCGTCACC others(860): Show CCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCCCTACCCCCAC ATATACCTCATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTA CCCCCACATATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACA CCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCC CGCACACACCTCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTC CGTACCCCCGCACACACCTGTGTCACCTCCATACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	216	0.0046	867	c.106 others(884): Show c.1069-622_1069-621insTGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCCACA TATACCTCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTCTGTCACCTCCCTACCCCCGCACACACCTGCATCACCTCCGTACCCC CGCACACACCTGTGTCACCTCCATACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RAB11FIP3_chr16_420649_528011	492388	A A	AGCCCTCC others(860): Show AGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0153	1	295	0.0034	867	c.126 others(886): Show c.1265+3396_1265+3397insGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492455	T T	TCCCCGGG others(860): Show TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02132.hp2 HG03579.hp2 HG01261.hp1 HG02132.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0006 a0001c0002t0002 a0001c0006t0032 a0001c0001t0006 a0001c0002t0002 a0001c0006t0032	a0001c0001t0006g0207 a0001c0002t0002g0250 a0001c0006t0032g0270 a0001c0001t0006g0207 a0001c0002t0002g0250 a0001c0006t0032g0270	3	295	0.0102	867	c.126 others(886): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCC CCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(860): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATAAT ATGTAATACACAATATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CACAATATATTATATAATAATATGTAATACATTATACATTATTATATAAG TATATGTAATACATTATACATTATTATATAAGTATATGTAATATATATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG CATATATAATACATAGTA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0034 a0001c0001t0061g0034	1	220	0.0046	867	c.24+ others(884): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATAATATGTAATACACAATATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACACAATAT ATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATA CATTATACATTATTATATAAGTATATGTAATACATTATACATTATTATAT AAGTATATGTAATATATATTATACATTATTATATAAGTATATGTAATATA TATTATACATTATTATATAAGCATATATAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(860): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAATATATATTATAT AATATGTAATACACAATATATATTATATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACACAATATATTATATAATAATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATATTATAC ATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGC ATATAACAATACATAATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	220	0.0046	867	c.24+ others(884): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAATATATATTATATAATATGTAATACACAATATATATTATATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACACAATATATT ATATAATAATATGTAATACACAATATATTATATAATAATATGTAATACAC AATATATTATATAATAATATGTAATACACAATATATTATATAATAATATG TAATACACAATATATTATATAATAATATGTAATACACAATATATTATATA ATAATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATATTATACATTATTATATAAGCATATAATATATAATA CATAATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RASA3_chr13_113972783_114137623	114113618	C C	CGGCGAGT others(860): Show CGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCACC ATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCAC CATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCCA CCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACCC ACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCACC CACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCAC CCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCCA CCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTCC ACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGTC CACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAGT CCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCAG TCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATCA GTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCATC AGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCAT CAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCCA TCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTCC ATCAGTCCACCCACCATGGCGAGTGATGTCCGTACAGCTCACACCGCGTC CATCAGTCCACCCACCAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	67	0.0149	867	c.55+ others(884): Show c.55+18816_55+18817insATGGTGGGTGGACTGATGGACGCGGTGT GAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGTG TGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGGT GTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCGG TGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGCG GTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACGC GGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGACG CGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGAC GCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGGA CGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATGG ACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGATG GACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGAT GGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTGA TGGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACTG ATGGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGACT GATGGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGAC TGATGGACGCGGTGTGAGCTGTACGGACATCACTCGCCATGGTGGGTGGA CTGATGGACGCGGTGTGAGCTGTACGGACATCACTCGCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(860): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAAC TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	304	0.0033	867	c.66+ others(882): Show c.66+3483_66+3484insGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTA TAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTA ACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(860): Show TGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG AGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0021 a0005c0013t0021	a0005c0013t0021g0023 a0005c0013t0021g0023	1	204	0.0049	867	c.880 others(884): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCT CACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(860): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGC TGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACACAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0034 a0034	a0034c0081 a0034c0081	a0034c0081t0008 a0034c0081t0008	a0034c0081t0008g0075 a0034c0081t0008g0075	1	116	0.0086	867	c.199 others(886): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCAGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACAC AGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(860): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACACAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCC CGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTC CCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0027 a0027	a0027c0068 a0027c0068	a0027c0068t0014 a0027c0068t0014	a0027c0068t0014g0014 a0027c0068t0014g0014	1	116	0.0086	867	c.199 others(886): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGCCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCC CTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGT CCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCAC ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977260	C C	CCACGCAG others(860): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACACAGGGGGCCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0025 a0025	a0025c0070 a0025c0070	a0025c0070t0026 a0025c0070t0026	a0025c0070t0026g0112 a0025c0070t0026g0112	1	116	0.0086	867	c.199 others(886): Show c.1994+2715_1994+2716insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGGGGGCCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACA GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(860): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	324	0.0031	867	c.115 others(884): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(860): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	324	0.0031	867	c.115 others(884): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(860): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATACATATGTTTTATATGTATATATACATATA AAACATATATACATATGTTTTATATGTATATATACATATAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACAT AGAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATA TATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTAT ATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	300	0.0033	867	c.626 others(884): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATACATATAAATATATATACATA TGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTAT ATGTATATATATACATAGAAAATATATATACATGTTTTATATGTATATAT ATACATAGAAAATATATATACATGTTTTATATGTATATATATACATAGAA AATATATATACATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATATGTTTTATATGT ATATATATACATAGAAAATATATATACATATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(860): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAAGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGG GAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAG AAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGT GGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0028 a0002c0003t0003g0028	1	112	0.0089	867	c.638 others(882): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGG GAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGGGG AGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAG GAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGG TAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGGGG GAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAG AAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGGTG GGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGG AGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGA AGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGA GGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAAGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAA GGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGG GAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(860): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGG GAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAG AAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGT GGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03195.hp2 NA19240.hp2 others(1): Show HG02615.hp1 HG03195.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011	a0001c0001t0004g0024 a0001c0001t0006g0108 a0001c0001t0010g0025 others(1): Show a0001c0001t0004g0024 a0001c0001t0006g0108 a0001c0001t0010g0025 a0001c0001t0011g0023	4	112	0.0357	867	c.638 others(882): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGTGG GAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGGGG AGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGAAG GAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGG TAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGGGG GAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAG AAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGGTG GGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGGGG AGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGAGA AGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGA GGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGGAGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAA GGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGG GAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46878326	A A	AGAGAGAA others(860): Show AGAGAGAAGGAGGTGGGAGGGAGAGAGAGAAGGAGGTGAGAGGGAGAGAG AGAAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAA GGAGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAG GTGGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAG GGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGA GAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAG GAGGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGA GGGGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGG AGAGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGA GGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGG GGGGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGA GAGAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGT GGGAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGA GAGAGAAGGAGGTGGGGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGT GGGAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGG GAGAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAG AAGGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGT GGGAGGGTGGGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp1 HG02451.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0051 a0001c0001t0002g0014 a0001c0001t0001g0051 a0001c0001t0002g0014	2	112	0.0179	867	c.638 others(882): Show c.638-306_638-305insGAGAGAGAAGGAGGTGAGAGGGAGAGAGAG AAGGAGGTGAGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGG AGGTGGGAGGGAGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGAGGT GGGAGGGAGGGAGAGAAGGAGGTGGGAGGGAGGGAGAGGACGTGGGAGGG GGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGGGAGAGAGA AGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAGAGAAGGA GGTAGGAGGGGGAGAGAAGGTGGGAGGGGGAGAGAGAAGGAGATGGGAGG GGGAGAGAGAAGGAGGTGGGGGGAGAGAGAAGGAGGTGGGAGGGAGGGAG AGAAGGAGGTGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGACGAGGAGG TGGGAGGGGGAGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGGGAGGGG GGAGAGGAGGAGGTGGGAGGGGGGAGAGGAGGAGGTGGGAGGGAGGGAGA GAAGGAGGTGGGAGGGGGAGAGAAGGAGGTGGGGGGAGAGGAGGAGGTGG GAGGGGGGAGAGAAGGAGGTGGGGGGAGAGAAGGAGGTGGGAGGGGGAGA GAGAAGGAGGTGGGGAGAAGGAGGTGGGAGTGGGGGAGAGAAGGAGGTGG GAGGGAGGGGGAGAAGGAGGTGGGATGGGGCAGAGAAGGAGGTGGGGGGA GAGAAGGAGGTGGGAGGGAGGGGGAGAAGGAGGTGGGAGGGGGGAGAGAA GGGGGTGAGGGGGAGAGAAGGAGGTGGGAGGTGGGGAGAGAAGGAGGTGG GAGGGTGGGAGAGGGGGAGAGAAGGAGGTGGGAGGGA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(860): Show CTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCA GGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAGGG AGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC CAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGG AGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	867	c.49 others(878): Show c.4971_*4972insCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCT CCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCC TGGCCTCCCTAACCCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGG CCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTACCCTGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TRIO_chr5_14138342_14515204	14347271	C C	CTGGACCA others(860): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGC AGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0184 a0001c0001t0009g0184	1	198	0.0051	867	c.204 others(888): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGGTC CTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGTGGACCTGAGG TCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGAG GTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTGA GGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGCGGACCTG AGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347290	C C	CGGACCTG others(860): Show CGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGG ACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTG GACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGAT GGACCAGTCATCTCAGGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	198	0.0051	867	c.204 others(888): Show c.2046+10594_2046+10595insATGGACCAGTCATCTCAGGCGGAC CTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGA CCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGG ACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGCG GACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGC GGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGATGGACCA GTCATCTCAGGTGGACCTGAGGTCCTGCAGAACAGAGATGATG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(860): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0025 a0001c0016t0025	a0001c0016t0025g0135 a0001c0016t0025g0135	1	174	0.0058	867	c.41- others(884): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATATACTATATCATCATATGATGATATGATATACTATATCAT CATATGATGATATGATATACTATATCATCATATGATGATATGATATACTA TATCATCATATGATGATATGATATACTATATCATCATATGATGATATGAT ATACTATATCATCATATGATGATATGATATACTATATCATCATATGATGA TATGATATACTATATCATCATATGATGATATGATATACTATATCATCATA TGATGATATGATATACTATATCATCATATGATGATATGATATACTATATC ATCATATGATGATATGATATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(860): Show TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATGATACTATATCATCATATGAT GATATGATACTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATCATATAACATGATGATATGATACTAT ATCATCATATAACATGATGATATGATACTATATCATCATATAACATGATG ATATGATACTATATCATCATATAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	174	0.0058	867	c.41- others(884): Show c.41-49219_41-49218insGATGATATGATACTATATCATCATATGA TGATATGATACTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATAACATGATGATATGATACTATATCATCA TATAACATGATGATATGATACTATATCATCATATAACATGATGATATGAT ACTATATCATCATATAACATGATGATATGATACTATATCATCATATAACA TGATGATATGATACTATATCATCATATAACATGATGATATGATACTATAT CATCATATAACATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UCN3_chr10_5359966_5379692	5370270	T T	TGTGTGTG others(860): Show TGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTATGTGTGTG TATGTGTGTGTATGTGTGTGTATGTGTATGTGTGTGTATGTGTGTGTATA TGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATATG CGTGTGTGTGTATGCGTGTGTGTATATGTGTGTATGTGTGTGTATATGTG TGTGTATGTGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTATGTGTGTA TGTGTGTGTATATGTGTGTATGTGTGTGTGTATCTGTGTGTGTGTGTGTG TATGTGTGTGTATGTGTGTGTGTATGTGTGTATATGTGTGTATATGTGTG TGTACGTGTGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTATGTGTG TATGTGTGTATGTGTGTGTATGTGTGTGTGTGTGTGTGTATGTGTGTGTA TGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTA TATATGCGTGTGTGTATGCGTGTGTATGCGTGTGTGTATGTGTGTGTATG TGTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTG TATGTGTGTGTATGTGTGTGTGTATATGTGTGTATATGTGTGTGTATATG TGTGTATGTGTGTATATGTGTGCGTATATGCGTGTGTATATGCGTGTGTA TGTGCGTGTGTATGTGCGTGTGTATATGCGTGTGTATGTGTGTATGTGTG TGTATATGATGTGAGTGTATATGCGTGTGTATATGCGTGTGTATATGCGT GTGTGTGTGTATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGT GTGTGCGCGTGTGTGTGC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0147 a0001c0002t0003g0147	1	468	0.0021	867	c.-6- others(882): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTATGT GTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGT GTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTGT GTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATCT GTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTGT ATCTGTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGT ATATGTGTGTATATGTGTGTGTACGTGTGTGTGTGTATGTGTGTATGTGT GTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTGT GTGTGTGTATGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTATGCGT GTGTGTATATGCGTGTGTATATATGCGTGTGTGTATGCGTGTGTATGCGT GTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTAT GCGTGTGTATGGGTGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGT GTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTGCGTATATGC GTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATATGCGT GTGTATGTGTGTATGTGTGTGTATATGATGTGAGTGTATATGCGTGTGTA TATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGTATATGTGTGTG TATATGTGTGTGTGCGTGTGTGTGCGCGTGTGTGTGC	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
VPS53_chr17_503668_719839	510299	C C	CCGACCCC others(860): Show CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02280.hp1 others(7): Show HG01109.hp2 HG01891.hp1 HG02280.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG03225.hp1 HG03225.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0033 a0001c0001t0087 a0001c0001t0095 others(6): Show a0001c0001t0033 a0001c0001t0087 a0001c0001t0095 a0001c0001t0096 a0001c0001t0098 a0001c0001t0105 a0001c0001t0112 a0001c0001t0127 a0001c0002t0050	a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0087g0198 others(7): Show a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0087g0198 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0098g0147 a0001c0001t0105g0201 a0001c0001t0112g0157 a0001c0001t0127g0159 a0001c0002t0050g0049	10	232	0.0431	867	c.88 others(878): Show c.8828_*8829insAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8828		chr17	TogoVar
VPS53_chr17_503668_719839	510299	C C	CCGACCCC others(860): Show CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTATTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGG CCGACCCCTTACTAGTCCCATATGAAATCCTGGCTCACCCCTCACTAGTC ACATATCAAATCCTGGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02922.hp2 others(1): Show HG01884.hp1 HG02622.hp2 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0088 a0001c0001t0097 a0001c0001t0029 a0001c0001t0088 a0001c0001t0097	a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0088g0152 others(1): Show a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0088g0152 a0001c0001t0097g0199	4	232	0.0172	867	c.88 others(878): Show c.8828_*8829insAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAATAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCGGCCAGGATTTGATACGT GACTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGA GCCAGGATTTCATATGGGACTAGTAAGGGGTCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8828		chr17	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(860): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTT CCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTC CCTCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCC CCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	246	0.0041	867	c.-10 others(884): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCTCCCTTCCCCCCTTTCCCTCTTCCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF605_chr12_132913306_132961306	132954429	A A	AGGAGAAG others(860): Show AGGAGAAGGGTGGGGGAGGGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAA GGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGAGGAAAAGGGTGGGGAG GGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGG TGGGGAGGGGAGGAAAGGGTGGAGGGGGAGAAGGGTGGGGAGGGGGAAGA AGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAAAGGGTGGGGAGGGG GGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGT GGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAGGGTGGGGAGGGGGGG AGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGG GGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGA AGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGG GGAGGAGAAGGGTGGGGAGGGGGGAGAAGGGTGGGGAGGGGGGGAGAAGG GTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGG GGGAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGGAGAAGGGT GGGGAGGGGGGGAGAAGGGTGGGGAGGGGAGGAGAAGGGTGGGGAGGGGG GAGAAGGGTGGGGAGGGGGGAGAAGTGTGGGGAGGGGGGAGAAGGGTGGG GAGGGGAGGAGAAGGGTGGGGAGGGGGGGAGAAGGGTGGGGAGGGGGGAG AAGGGTGGGGAGGGGGGAGAAGGGTGGGGGAGGGGGGAGAAGGGTGGGGA AGGGGGAGAAGGGTGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	126	0.0079	867	c.-28 others(886): Show c.-286+1813_-286+1814insCCCCACCCTTCTCCCCCTTCCCCACC CTTCTCCCCCCTCCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCC TCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCT TCTCCCCCCTCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCC CCACCCTTCTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCT CCCCCCCTCCCCACACTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCC ACCCTTCTCCTCCCCTCCCCACCCTTCTCCTCCCCTCCCCACCCTTCTCC CCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTCCCCTCCCCA CCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCC CTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTT CTCCTCCCCTCCCCACCCTTCTCCCCCCCTCCCCACCCTTCTCCCCCCCT CCCCACCCTCTCCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCT CCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCCCTCCC CACCCTTTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCTTCTTCCCC CTCCCCACCCTTCTCCCCCTCCACCCTTTCCTCCCCTCCCCACCCTTCTC CCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCCCCCTCCCCAC CCTTTTCCTCCCCCTCCCCACCCTTCTCCCCCCTCCCCACCCTTCTCCTC CCCTCCCCACCCTTCTCCTCCCCCCTCCCCCACCCTTCTCC	ZNF605	ENSG00000196458.11	transcript	ENST00000360187.9	protein_coding	1/4			chr12	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TATATTTA others(861): Show TATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAATATA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT TATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTA TAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATA GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTATATATTTATAGATAAATATATATATAAATATTTA TATATTTATAGATAAATATATAAATATATATATATTTATATATTTATAGA TAAATATATAAATATATAAATATTTATAGATAAATATATAAATATATAAA TATTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATA AATATATAAATATTTATATATTTATAGATAAATATATAAATATTTATATA TTTATAGATAAATATATAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0006 a0003c0014t0006	a0003c0014t0006g0090 a0003c0014t0006g0090	1	306	0.0033	868	c.130 others(887): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATAGAT AAATATATAAATATTTATATATTTATCTATAAATATATAAATATTTATAT ATTTATATATTTATCTATAAATATTTATATATTTATATATTTATCTATAA ATATATAAATATATATATATTTATATATTTATCTATAAATATATAAATAT TTATATATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATTT ATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATAT TTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAAT ATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATATATTT ATCTATAAATATATAAATATTTATATATTTATCTATAAATAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(861): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATATATATATATATATATATATA TATTTAAAATTCCTTGTAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGT AATCCCAGCACTTTGGGAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGA GTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	336	0.0030	868	c.94+ others(883): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATATATATATATATATGTATTTTTTTTTTTTTTTTAAATA TATATTCTTTTTTTTTAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTG CAGTGGCACCATCTCGGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCA ATTCTGCCTCAGGAGGGAGAGGCAGGGACTAGGTGGGACTACAGGCACAC GCCTGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGT TTCACCATGTTGCCCAGGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCT GCCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGTG CCCAGCCGATAAATATATTTTTAAAGTAGCAAACCAATCATTATGGGAAA GAATCGGTAATTTGGTTGACTTCTGCACCGTTATTTTATAGCTAAGTATT GTATTTATTTTTGTTTCCACATGGGAGAGAGGCACCAGCCACTATTCACT GTTCAGGGTTTCTTTTTCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGT GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCAC TGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTT TTTTGTATTTTTTAGTAGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ATP10A_chr15_25673712_25868327	25758264	C C	CCACCTGC others(861): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCT GCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCAC CTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACT CATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAA CTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCA CCCTCATTCCGACCACCTGCTCCACCCTTACTCATTCTGATCACCTGCTC CACCCTAACTCATTCCGAT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0236	1	300	0.0033	868	c.655 others(887): Show c.655-22124_655-22123insATCGGAATGAGTTAGGGTGGAGCAGG TGATCAGAATGAGTAAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGA GTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCG GAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGT CGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCA GGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGT GGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGG GTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGA GGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar

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Search Results (Total: 7053 hits)