Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCT others(407): Show CTCTCCCTCCCCTCTCCCCTCCCCTCTCCCCCCCCCTCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCTCCCCTCCCCCTTCT CTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCTCTCCTCC CCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTC TCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCTCGCCCTTCCCC TCTTCCCTCCCCTCTCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCT CCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTC CCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	114	0.0088	414	c.-25 others(433): Show c.-25-12167_-25-12166insTCCCTCCCCTCTCCCCTCCCCTCTCC CCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCTCCCCTCCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCT CCTCCCCTCTCTCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCT CCTCCCCTCTCCCCTCCCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCT TCCCCTCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCTCTCCCCTCCC CTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCC CGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCC CTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377593	T T	TCTCCCCT others(407): Show TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCTCTCCCCCCCCTCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCCTCT CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCCCCTCCATCTCCCCTCTCATCTCCCCTCTCCCCTC CTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCATCCCCTCCCCCTTCC CCTCCCCTCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCCTCCCCT CCCCCTCCCCCCTTC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0012 a0002c0002t0001g0012	1	114	0.0088	414	c.-25 others(433): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCTCTCCCCCCCCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCT CTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCC CTCTCCTCTCTCCTCCCCCTCTCCCTCCCCTCGCCCTTCCCCTCCCCTCG CCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCATCTCCC CTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCC CCTTCCATCCCCTCCCCCTTCCCCTCCCCTCCCTTCCCTCCCCTCCCCTC TCCCCTTCCCTCCCCCTCCCCTCCCCCTCCCCCCTTCC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr19	TogoVar
TNR_chr1_175310194_175748595	175650927	C C	CCTCATTA others(407): Show CCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCATCTCATTA CTCCCCCCCTCATTACTACTCCTCCCCATCTCATTACTACCCCTCCCCAC CTCATTATTCCACCTTCCCCACCTCATTACTACCCCTCCCCACCTCATTA CTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCC CATCTCATTACTCCCCCCCACCTCATTACTACCCCTCCCCATCTCATTAC TCCTCCTCCCCCATCTCATTACTACCTGTCCCCCACCTCCTTACTACCCC TCCCCCACCTCATTACTACCCATCTCCCACCTCATTCCTCCTCCTCCCCA CCTCATTACTACCCCTCTCCCACCTCATTACTACCCCTCCCCACCTCATT ACTACTCCTCCCCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	132	0.0076	414	c.-16 others(435): Show c.-165+92298_-165+92299insATGGGGAGGAGTAGTAATGAGGTG GGGAGGGGTAGTAATGAGGTGGGAGAGGGGTAGTAATGAGGTGGGGAGGA GGAGGAATGAGGTGGGAGATGGGTAGTAATGAGGTGGGGGAGGGGTAGTA AGGAGGTGGGGGACAGGTAGTAATGAGATGGGGGAGGAGGAGTAATGAGA TGGGGAGGGGTAGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGT AGTAATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGT GGGGAGGGGTAGTAATGAGGTGGGGAAGGTGGAATAATGAGGTGGGGAGG GGTAGTAATGAGATGGGGAGGAGTAGTAATGAGGGGGGGAGTAATGAGAT GGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTAATGAG		TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22						chr1	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(407): Show ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATTATATATACATTATATATATATATTATATATACATTATATATATTATA TATTATATATACATTATATATATTATATATTATATATACATTATATATAT TATATATTATATATACATTATATATATTATATATTATATATACATTATAT ATATTATATATTATATATACATTATATATATTATATATTATATATACATT ATATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATATTATATATTATATATACATTATATATATTATATATTATATATAC ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG01891.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0104 a0001c0001t0003g0222 a0001c0001t0001g0104 a0001c0001t0003g0222	2	224	0.0089	414	c.102 others(433): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATATAATGTATA TATAATATATAATATATATAATGTATATATAATATATATAATGTATATAT AATATATAATATATATAATGTATATATAATATATAATATATATAATGTAT ATATAATATATAATATATATAATGTATATATAATATATAATATATATAAT GTATATATAATATATAATATATATAATGTATATATAATATATAATATATA TAATGTATATATAATATATATATATAATGTATATATAATATATATATATA ATGTATATATAATATATATATATAATGTATATATAATA		TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8						chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(407): Show TTATATATATATTATATATATATATAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATAATATATATATAAAAATTATACATATATTA TATATATAAAAATTATACATATATTATATATATATATAAATTATACATAT ATTATATATATATATAAATTATACATATATTATATATATATAAAAATTAT ACATATATTATATATATATAAAAATTATACATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATTATA TATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19062.hp2 NA19056.hp1 NA19062.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0006 a0000c0004t0006	a0000c0004t0006g0007 a0000c0004t0006g0007	2	272	0.0074	414	c.29 others(425): Show c.2994_*2995insTATATATATATTATATATATATATAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATAATATATATATAAAA ATTATACATATATTATATATATAAAAATTATACATATATTATATATATAT ATAAATTATACATATATTATATATATATATAAATTATACATATATTATAT ATATATAAAAATTATACATATATTATATATATATAAAAATTATACATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATTATATATATATAAAAATTA		TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding					2316		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097570	T T	TGTGTATA others(407): Show TGTGTATATACATATATACATATACACACATGTGTGTATATACATATATA CATATACACACGTGCGTGTATATACATATACACACGTGCGTGTATATACA TATACACACGTGCGTATATACATATACACGCGTGCGTATATACATATACA CGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACGCGTG CGTATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTA TATATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATA TATACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	334	0.0030	414	c.-47 others(425): Show c.-4790_-4789insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATAT ACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCAC GCGTGTATATGTATATACGCACGTGTGTATATGTATATACACGCACGTGT GTATATGTATATACACGCACGTGTGTATATGTATATATGTATATACACAC ATGTGTGTATATGTATATATGTATATACAC		TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding					4764		chr20	TogoVar
TUBGCP5_chr15_22994177_23044569	23042957	T T	TGGGGGGA others(407): Show TGGGGGGACATCATAACCCCACCTGGCCGGGGGTGCTGGGGGGCGGGGGG AACTTCATAACCCCACCTGGCCAGAGGTGCTGGTGGTGACTTCATAAATG TCACCGGGCCAGAGGTGCTGGGGGGATTTCATAACCACAGCTGACCATAG GTGCTGGGGGAGATTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGACT TCATAAGCACACCTGGCCAGAGGTGCCAGGAGGACTTCATAACCACACCT GGCCAGAGGTGCTGGGGGGACATCATAACCTCACCTGGCCAGAGGTGCTG TGGGGGGGTATTATAACCCCACCTGGCCAGAGGTGCTGGGGGGTATCATA ATCCCACCTGTCCAGAGGTGCTGTGGGGCCATCATAACCCCAGCTGGCAG GAGGTGCTGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0105 a0001c0002t0002g0105	1	351	0.0029	414	c.-34 others(425): Show c.-3415_-3414insGCCCCCCAGCACCTCCTGCCAGCTGGGGTTATGA TGGCCCCACAGCACCTCTGGACAGGTGGGATTATGATACCCCCCAGCACC TCTGGCCAGGTGGGGTTATAATACCCCCCCACAGCACCTCTGGCCAGGTG AGGTTATGATGTCCCCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTCC TCCTGGCACCTCTGGCCAGGTGTGCTTATGAAGTCCCCCAGCACCTCTGG CCAGGTGGGGTTATGAAATCTCCCCCAGCACCTATGGTCAGCTGTGGTTA TGAAATCCCCCCAGCACCTCTGGCCCGGTGACATTTATGAAGTCACCACC AGCACCTCTGGCCAGGTGGGGTTATGAAGTTCCCCCCGCCCCCCAGCACC CCCGGCCAGGTGGGGTTATGATGTCCCCCC		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					3389		chr15	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(407): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATATTTATGTAATAT ATAATATTTATATATATTTATGTAATATATAATATTTATATATTATATTT ATGTAATATATATTTATATATTATATTTATGTAATATATAATATTTATAT ATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAA TATATAATATATATT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0134 a0002c0001t0002g0134	1	204	0.0049	414	c.213 others(433): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATATATTACATAAATATAATAT ATAAATATTATATATTACATAAATATATATAAATATTATATATTACATAA ATATATATAAATATTATATATTACATAAATATAATATATAAATATTATAT ATTACATAAATATAATATATAAATATTATATATTACATAAATATAATATA TAAATATTATATATTACATAAATATAATATATAAATATTATATATTACAT AAATATAATATATAATATATATTATATATTACATAAATATAATATATAAT ATATATTATATATTACATAAATATAATATATAAATATA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15						chr4	TogoVar
WDR7_chr18_56646359_57034792	57024561	A A	ATAGTTAT others(407): Show ATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAA TAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATAT CCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCC CTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTG AACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAG ACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTATAGAATTT CACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACTATGGTAGT TATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGGG ATATGTGAACTATGG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0133 a0001c0003t0005g0133	1	144	0.0069	414	c.427 others(433): Show c.4270-2428_4270-2427insCAGGATTTCACATATCCCTATTCTCA GACAGGAATAGGGATATGTGAACTATGATAGTTATGTCCCTTACAGGATT TCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAG TTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAGGAATAGG GATATGTGAACTATGATAGTTATGTCCCTTACAGGATTTCACATATCCCT ATTCTCAGACAGGAATAGGGATATGTGAGCTATGATAGTTATGTCCCTTA TAGAATTTCACATATCCCTATTCTCAGACAGGAATAGGGATATGTGAACT ATGGTAGTTATGTCCCTTACAGGATTTCACATATCCCTATTCTCAGACAG GAATAGGGATATGTGAACTATGGTAGTTATGTCCCTTA		WDR7	ENSG00000091157.15	transcript	ENST00000254442.8	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr18	TogoVar
ZC3H12B_chrX_65029826_65512887	65450493	G G	GTACATAT others(407): Show GTACATATGTATATATATGTATATATGTACATATGTATATATATGTATAT ATGTATATATATACATATGTATATATGTATATATGTATATATATACATGT ATACATATGTATACATGTATATATATACATATGTATACATGTATATATGT ATATATATACATGTATACATATGTATATATGTATATATGTATAAATATAC ATATGTATATATATGTATATATGTATACATATGTATATATACATATGTAT ATATATGTATATATGTATACATATGTATATATACATATGTATATATATGT ATATATGCATATATACATATGTATATATGTATATATGTATACATATGTAT ATATACATATGTATATAAATGTATATATGCATATATACATATGTATATAT GCATATATATACATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	165	0.0061	414	c.-15 others(435): Show c.-156-38152_-156-38151insACATATGTATATATATGTATATAT GTACATATGTATATATATGTATATATGTATATATATACATATGTATATAT GTATATATGTATATATATACATGTATACATATGTATACATGTATATATAT ACATATGTATACATGTATATATGTATATATATACATGTATACATATGTAT ATATGTATATATGTATAAATATACATATGTATATATATGTATATATGTAT ACATATGTATATATACATATGTATATATATGTATATATGTATACATATGT ATATATACATATGTATATATATGTATATATGCATATATACATATGTATAT ATGTATATATGTATACATATGTATATATACATATGTATATAAATGTATAT ATGCATATATACATATGTATATATGCATATATATACATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450545	G G	GTATACAT others(407): Show GTATACATGTATATATGTATATATATACATGTATACATATGTATACATGT ATATATATACATATGTATACATGTATATATGTATATATATACATGTATAC ATATGTATATATGTATACATGTATATATGTATATATATACATGTATACAT ATGTATATATGTATACATGTATATATATATGTATATATGTATAAATATAC ATATGTATATATATGTATATATGTATACATATGTATATATACATATGTAT ATATACGTATATATGTATACATATGTATATATACATATGTATATATATGT ATATATGCATATATACATATGTATATATATGTATATATGTATACATATGT ATATATACATATGTATATATGTATATATGCATATATACATATGTATATAT GCATATATATACATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0162 a0001c0001t0010g0162	1	165	0.0061	414	c.-15 others(435): Show c.-156-38100_-156-38099insATACATGTATATATGTATATATAT ACATGTATACATATGTATACATGTATATATATACATATGTATACATGTAT ATATGTATATATATACATGTATACATATGTATATATGTATACATGTATAT ATGTATATATATACATGTATACATATGTATATATGTATACATGTATATAT ATATGTATATATGTATAAATATACATATGTATATATATGTATATATGTAT ACATATGTATATATACATATGTATATATACGTATATATGTATACATATGT ATATATACATATGTATATATATGTATATATGCATATATACATATGTATAT ATATGTATATATGTATACATATGTATATATACATATGTATATATGTATAT ATGCATATATACATATGTATATATGCATATATATACATAT		ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H3_chr8_143432659_143546447	143486847	G G	GCCCCATC others(407): Show GCCCCATCACCACGAAGCTCAGACACAGAACAGCACCCGCTACACGGCCC CATCATCACGAAGCTCAGACACAGAACAGCACCCGCTACACGACCCCACC ACCACGAAGCTCACATACAGAACAGCACCCGCTACACGACCCCACCACCA CGAAGCTCACACACAGAACAGCACCCGCTACACGACCCCACCACCACGAA GCTCACACACAGAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTC AGACACACAACAGCACCCGCTACACGGCCCCACCACCACGAAGCTCAGAC ACAGAACAGCACCCGCTACACTGCCCCATCACCACGAAGCTCAGACACAG AACAGCACCCGCTACACGACCCCACCACCACGAAGCTCAGACACACAACA GCACCCGCTACACGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01257.hp2 HG01358.hp2 others(3): Show HG01167.hp2 HG01257.hp2 HG01358.hp2 HG01952.hp2 HG02004.hp2 HG02148.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 others(3): Show a0005c0005t0001g0188 a0005c0005t0001g0189 a0005c0005t0001g0190 a0005c0005t0001g0191 a0005c0005t0001g0192 a0005c0005t0001g0220	6	352	0.0171	414	c.171 others(435): Show c.1716-11263_1716-11262insTCGTGTAGCGGGTGCTGTTGTGTG TCTGAGCTTCGTGGTGGTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTCTG AGCTTCGTGGTGATGGGGCAGTGTAGCGGGTGCTGTTCTGTGTCTGAGCT TCGTGGTGGTGGGGCCGTGTAGCGGGTGCTGTTGTGTGTCTGAGCTTCGT GGTGGTGGGGCCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTG GTGGGGTCGTGTAGCGGGTGCTGTTCTGTGTGTGAGCTTCGTGGTGGTGG GGTCGTGTAGCGGGTGCTGTTCTGTATGTGAGCTTCGTGGTGGTGGGGTC GTGTAGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGATGATGGGGCCGTGT AGCGGGTGCTGTTCTGTGTCTGAGCTTCGTGGTGATGGGG		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370805	T T	TATATGAT others(407): Show TATATGATATATACATCATATATCACACATATGATATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATACATCATATATCACACATATGATATACATCATATAT CACACATATGATATATATCATATATCACACATATGATATATATCATATAT CACACATATGATATATATCACACATATCACATATATCATATATATCATAC ATATCACATATATCATATATATCATACATATCACATATATGATATATATC ATATATATCACATATATCATATATATCATATATATCACATATATCATATA TATCATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	350	0.0029	414	c.-36 others(425): Show c.-3667_-3666insATATGATATATACATCATATATCACACATATGAT ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATACATCATATATCACACATATG ATATACATCATATATCACACATATGATATATATCATATATCACACATATG ATATATATCATATATCACACATATGATATATATCACACATATCACATATA TCATATATATCATACATATCACATATATCATATATATCATACATATCACA TATATGATATATATCATATATATCACATATATCATATATATCATATATAT CACATATATCATATATATCATATATATCAC		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3563		chr10	TogoVar
ABCA7_chr19_1035107_1070572	1049900	C C	CCCCCCCA others(408): Show CCCCCCCACCACTCCCTCCCCGTGAGCCCCCCCGGACCACTCCCTCCCTG TGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCCCC GTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTCC CCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCTC CCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCACTC CCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCACTC CCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACC ACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACC ACTCCCTCCCTGTGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0005 a0009c0007t0002g0005	1	30	0.0333	415	c.255 others(432): Show c.2552+482_2552+483insCGTGAGCCCCCCCGGACCACTCCCTCCC TGTGAACCCCCCACCACTCCCTCCCCGTGAGCCCCCCGACCGCTCCCTCC CCGTGAGTCCCCCGACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCCT CCCCGTGAGCCCCCCACCACTCCCTCCCTGTGAGCCCCCCGACCGCTCCC TCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGACCAC TCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCACCAC TCCCTCCCTGTGAGTCCCCCGACCACTCCCTCCCTTTGAGCCCCCCCGGA CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCCTGTGAGTCCCCCA CCACTCCCTCCCTGTGAGCCCCCCACCACTCCCTCCC		ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/46					INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTRT2_chr1_3016467_3027903	3026038	G G	GTGGTGGT others(408): Show GTGGTGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGGTGATGATGATGGTGA TGATGGTGATGGTGATGATGATGGTGATGATGGTAATGACAATGATGGTG ATGATGATAGTAATGACATGGTGGTGGTGATCATGATGATGGTGAGGATG GTGATGGTGATGATGGTGCTGGTGACGATAATGATGGTGGTGATGATGGT GATGGTGGTGGTGATGATGGTGATGATGACAATGATGGTGATCATGATGG TGATAATGATGGTGATGGCGATGGTGATGATGGTGGTAATAACATAGTGG TGATGATCATGATGATGGGGAAGATGGTGGTGGTGATGGTGACAGTGATG ATGATGATGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA19077.hp2 NA19088.hp1 NA18948.hp2 NA19077.hp2 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	3	366	0.0082	415	c.32 others(426): Show c.3218_*3219insTGGTGGTGGTGATGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGGTGGTGG TGATGATGATGGTGATGATGGTGATGGTGATGATGATGGTGATGATGGTA ATGACAATGATGGTGATGATGATAGTAATGACATGGTGGTGGTGATCATG ATGATGGTGAGGATGGTGATGGTGATGATGGTGCTGGTGACGATAATGAT GGTGGTGATGATGGTGATGGTGGTGGTGATGATGGTGATGATGACAATGA TGGTGATCATGATGGTGATAATGATGGTGATGGCGATGGTGATGATGGTG GTAATAACATAGTGGTGATGATCATGATGATGGGGAAGATGGTGGTGGTG ATGGTGACAGTGATGATGATGATGATGGTGA		ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding					3136		chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3026038	G G	GTGGTGGT others(408): Show GTGGTGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GGTGGTGATGATGGTGGTGATGATGGTGGTGGTGGTGATGATGATGGTGA TGATGGTGATGGTGATGATGATGGTGATGATGGTAATGACAATGATGGTG ATGATGATAGTAATGACATGGTGGTGGTGATCATGATGATGGTGAGGATG GTGATGGTGATGATGGTGCTGGTGACGATAATGATGGTGGTGATGATGGT GATGGTGGTGGTGATGATGGTGATGATGACAATGATGGTGATCATGATGG TGATGATGATGGTGATGGCGATGGTGATGATGGTGGTAATAACATAGTGG TGATGATCATGATGATGGGGAAGATGGTGGTGGTGATGGTGACAGTGATG ATGATGATGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0004 a0001c0007 others(11): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0012 a0001c0014 a0002c0002 a0003c0003 a0003c0013 a0004c0005 a0005c0006 a0006c0009 a0007c0010 a0008c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0011t0001 a0001c0012t0002 a0001c0014t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0003c0003t0001 a0003c0013t0001 a0004c0005t0001 a0005c0006t0001 a0006c0009t0001 a0007c0010t0001 a0008c0008t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(17): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 a0001c0007t0001g0000 a0001c0011t0001g0000 a0001c0012t0002g0000 a0001c0014t0002g0000 a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 a0003c0003t0001g0000 a0003c0013t0001g0000 a0004c0005t0001g0000 a0005c0006t0001g0000 a0006c0009t0001g0000 a0007c0010t0001g0000 a0008c0008t0001g0000	357	366	0.9754	415	c.32 others(426): Show c.3218_*3219insTGGTGGTGGTGATGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGGTGATGATGGTGGTGATGATGGTGGTGGTGG TGATGATGATGGTGATGATGGTGATGGTGATGATGATGGTGATGATGGTA ATGACAATGATGGTGATGATGATAGTAATGACATGGTGGTGGTGATCATG ATGATGGTGAGGATGGTGATGGTGATGATGGTGCTGGTGACGATAATGAT GGTGGTGATGATGGTGATGGTGGTGGTGATGATGGTGATGATGACAATGA TGGTGATCATGATGGTGATGATGATGGTGATGGCGATGGTGATGATGGTG GTAATAACATAGTGGTGATGATCATGATGATGGGGAAGATGGTGGTGGTG ATGGTGACAGTGATGATGATGATGATGGTGA		ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding					3136		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(408): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCAT AAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	415	c.-10 others(426): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAA TTTTTATTTATGATATATAAATATAAATTTTTATATATTTATATTTATGA TATATAAATATAAATTTTTATATATTTATAT		ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding					1042		chr3	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGG AGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGG GGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGG AGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAG GAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAA GGGGAGGGGGAGGGGGGAGGAGGGGAGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0191	1	352	0.0028	415	c.51 others(426): Show c.5165_*5166insCCTCCCCCCTCCCCTCCTCCCCCGTCCCCTCCTC CCCGCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTCC CCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCCC TCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCTC CCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTCC TCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCCCCCCT CCCCTCCTCCCTCCTCCCCCTCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(408): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGAGGGGGGAGGAGGGGGGA GGAGGGCAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGG GGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGA GGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAG GGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAG GAGGGGAGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	352	0.0028	415	c.51 others(426): Show c.5165_*5166insCCCTCCCCCTCCCCTCCTCCCCCGTCCCCTCCTC CCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCCTC CCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTTCC CTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCCCT CCCCTCCTCCCCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCTCCTCCCTC CTCCCCCCTCCCCTCCTCCCCCCCTGCCCTCCTCCCCCCTCCTCCCCCCT CCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCCCTCC CCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCC CTCCTCCCCCCTCCCCTCCTCCCTCTTCCCC		ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding					4172		chr19	TogoVar
ADGRB1_chr8_142444649_142550007	142500215	T T	TCCCCCCG others(408): Show TCCCCCCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCCCCGCCC CCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCA CGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCC GCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTC CTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCC ACCTCCCCACGCGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCG CCCCCCGCGCCGCTCCTCCCCCGCCCCCCCACGCCGCTCCTCCCCCGCCC CCCGCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCA CGCCGCTCCTCCCCCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0262 a0001c0002t0002g0262	1	310	0.0032	415	c.267 others(434): Show c.2675+9442_2675+9443insCCCGCCCCCCGCGCCGCTCCTCCCCC GCCCCCCGCGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCC CCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCACCTCCCCACG CGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCC GCTCCTCCACCTCCCCACGCGCCGCTCCTCCACCTCCCCACGCGCCGCTC CTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCC CCCGCCCCCCCACGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCC GCCCCCCGCGCCGCTCCTCCCCCGCCCCCCACGCCGCTCCTCCCCCGCCC CCCGCGCCGCTCCTCCACCTCCCCACGCGCCGCTCCTCC		ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30					INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRG2_chrX_18984307_19127468	19074562	C C	CTCCTTCT others(408): Show CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTT CTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTC TTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	188	0.0053	415	c.-1- others(430): Show c.-1-5728_-1-5727insAGAAGAAGAAGAAGAAGAAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA		ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28						chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(408): Show AAGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAGGGGGAGG TGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGGAGGGGGA GGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGGGAGGTGAGGGAGGGGGA GGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAGGGG AGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGAGGG GAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAG GATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGA AGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGGGGA GGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	350	0.0029	415	c.248 others(430): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCCTCCCCTCG CCTTCCCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTC TCTCACCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTC CCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCC TCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCC CTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCTCAC CTCCCCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTC CCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCT CCCACCCTTCCACTCCCCTCACCTCCTCCTCCCCT		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12						chr12	TogoVar
ANO1_chr11_70073317_70194530	70122372	C C	CCACCTCT others(408): Show CCACCTCTCTCTGTCTGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGT CTCTGTCTCTCTCTCCATCTCCCCCACCTCTCTGTCTGTCTCTCTGTCTC TCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCACCTCTCTGT CTGTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCC ATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTC TGTCTCTGTCTCTCTCTCCGTCTCCCTCACCTCTCTCTGTCTGTCTCTCT ATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCCACCTCCCCAC CTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCT CTCTCTCCGTCTCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	302	0.0033	415	c.898 others(432): Show c.898-1916_898-1915insTCCATCTCCCCCACCTCTCTGTCTGTCT CTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCA CCTCTCTGTCTGTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTC TCTCTCTCCATCTCCCCCGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCC ATCTGCCTCTGTCTCTGTCTCTCTCTCCGTCTCCCTCACCTCTCTCTGTC TGTCTCTCTATCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCCA CCTCCCCACCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTG TCTCTGTCTCTCTCTCCGTCTCCCTCACCTCTCTCTGTCTGTCTCTCTAT CTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTC		ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25					INFO_REALIGN_3_PRIME	chr11	TogoVar
ARMCX4_chrX_101480456_101500807	101494029	G G	GGGGCTGA others(408): Show GGGGCTGAGGCTGGGGCTGGGGTTGGGGCTGGGGGCTGGGGCTGAGGCTG AGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGG ACTGAGGCTGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGC TGGGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTG GGACTGAGGCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGG GCTGGGACTGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGC TGAGGCTGAGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTC GGGCTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAG GCTGGGGCTGAGGCTC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18961.hp1 NA18961.hp1	a0046 a0046	a0046c0033 a0046c0033	a0046c0033t0002 a0046c0033t0002	a0046c0033t0002g0001 a0046c0033t0002g0001	1	326	0.0031	415	c.546 others(424): Show c.5461_5462insTTGGGGCTGGGGGCTGGGGCTGAGGCTGAGGCTGGG GCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGAGCTGGGACTGAGGC TGGGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTG GGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGCTGGGGCTGGGACTGAG GCTGGGGCTGGGACTGAGGCTGGGGCTGGGGCTGAGGTTGGGGCTGGGAC TGAGGCTGGGGCTAGGGCTGGGGCTGAGGCTGGGGCTAGGGCTGAGGCTG AGGTTGGGGCTGGGGCTGGGGCTGAGGCTGGGGCTGAGGCTCGGGCTGAG GCTGGGGCTGGGGCTGAGGCTGGGGCTGGGGCTGGGGCTGAGGCTGGGGC TGAGGCTCGGGCTGAGGCTGGGGCTGGGG	p.Ala others(6): Show p.Ala1821fs	ARMCX4	ENSG00000196440.12	transcript	ENST00000423738.5	protein_coding	6/6	5973/7729	5462/6873	1821/2290		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMTL_chrX_1398139_1457909	1405746	G G	GTGAATAG others(408): Show GTGAATAGATGGTAGATGATGGGTAGGTAGGAAGATGAATAGATGGATGC ATGGATGAGATGGATGGTTGGGTGAATAGATGGTAGCTGATGGGTACATA GGTAGATGGATGGATGGATAGATGGATGCATGGATGAGATGGATGGGTGA ATAGATGGTAGATGATGGGTAGGTAGATGAGTGGATGGATGGATGAATGG ATGAGTAGATGGTAGATGATGGGTACGTAGATAGATGAATGGATGGATAG ATGGATGTATGGATGTGATGGATGGGTGAATAGATGGTAGACGATGGGTA GGTAGGTGGATGGATAGATGGAGGCATGGATGAGATGGATGGATGGGTGA ATAAATGGGTAGGTAGGTAGGTAGATGGATGTATAGATGGATGCATGGAT GAGATGGATGGATGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 HG02572.hp2 others(2): Show HG02109.hp1 HG02559.hp2 HG02572.hp2 HG02922.hp2 HG06807.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0003 a0003c0002t0001 a0003c0002t0003	a0003c0002t0001g0047 a0003c0002t0001g0150 a0003c0002t0001g0172 others(2): Show a0003c0002t0001g0047 a0003c0002t0001g0150 a0003c0002t0001g0172 a0003c0002t0001g0173 a0003c0002t0003g0100	5	185	0.0270	415	c.164 others(434): Show c.1646-2672_1646-2258dupGCCATCCATCCATCTCATCCATGCAT CCATCTATACATCCATCTACCTACCTACCTACCCATTTATTCACCCATCC ATCCATCTCATCCATGCCTCCATCTATCCATCCACCTACCTACCCATCGT CTACCATCTATTCACCCATCCATCACATCCATACATCCATCTATCCATCC ATTCATCTATCTACGTACCCATCATCTACCATCTACTCATCCATTCATCC ATCCATCCACTCATCTACCTACCCATCATCTACCATCTATTCACCCATCC ATCTCATCCATGCATCCATCTATCCATCCATCCATCTACCTATGTACCCA TCAGCTACCATCTATTCACCCAACCATCCATCTCATCCATGCATCCATCT ATTCATCTTCCTACCTACCCATCATCTACCATCTATTCA		ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	12/12						chrX	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(408): Show GACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAAC CTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCC CCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAG CCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCC TTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACC CCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCC CTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCTAC CCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCTGATCCCACGCCT CCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01074.hp1 others(6): Show HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG02738.hp1 HG04184.hp1 NA18522.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0010 a0012	a0001c0001 a0001c0006 a0002c0003 others(3): Show a0001c0001 a0001c0006 a0002c0003 a0006c0034 a0010c0037 a0012c0043	a0001c0001t0001 a0001c0006t0001 a0002c0003t0002 others(3): Show a0001c0001t0001 a0001c0006t0001 a0002c0003t0002 a0006c0034t0031 a0010c0037t0001 a0012c0043t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0151 others(6): Show a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0151 a0001c0006t0001g0077 a0002c0003t0002g0073 a0002c0003t0002g0074 a0006c0034t0031g0075 a0010c0037t0001g0076 a0012c0043t0001g0069	9	254	0.0354	415	c.39+ others(432): Show c.39+23601_39+23602insGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTC ACTCCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTG GTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTC CACTCCCCCTACCCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCT GATCCCACGCCTCCCTTCCACTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(408): Show GACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAAC CTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCC CCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAG CCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCC TTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACC CCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCC CTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCTAC CCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCTGATTCCACGCCT CCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19077.hp1 HG00597.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0010 a0001c0006 a0002c0010	a0001c0006t0001 a0002c0010t0022 a0001c0006t0001 a0002c0010t0022	a0001c0006t0001g0070 a0002c0010t0022g0072 a0001c0006t0001g0070 a0002c0010t0022g0072	2	254	0.0079	415	c.39+ others(432): Show c.39+23601_39+23602insGCCGTGCCTCCTTTCCACTCCCCCAACC CCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCC CTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCAC CGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGG CCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTC ACTCCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTG GTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTC CACTCCCCCTACCCCTGATCCCACGCCTCCCTTCCACTCCCCCGACCCCT GATTCCACGCCTCCCTTCCACTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(408): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTCCACTCCCCCCAC CCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCA CCCCTGGTCCCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCT CCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp1 HG02970.hp1 HG03516.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0049 a0001c0009t0004 a0001c0009t0049	a0001c0009t0004g0140 a0001c0009t0049g0141 a0001c0009t0004g0140 a0001c0009t0049g0141	2	254	0.0079	415	c.39+ others(432): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTC CACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCT GGTCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCCTT CCACTCTCCCCACCCCTGGTCCCAGCCTCCCTTCCACTCCCCCAACCCCT GATCCCACACCTCCCTTCCACTCCCCCTACCCCTGAT		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A3_chr3_194397677_194492002	194421126	A A	ATATATAT others(408): Show ATATATATATATATATATATATAGTTTATATATATATAGTTTATATATAT ATAAACTATATATATAGTATATATATAAACTATATATATAGTATATATAT ATACTATATATATAGTATATATATATACTATATATATAGTATATATATAT ACTATATATAGTTTATATATATATACTATATATATAGTTTATATATATAT ATACTATATATAGTATATATATATATAAACTATATATATAGTTTATATAT ATATAAACTATATATATAGTTTATATATATATAAACTATATATATAGTTT ATATATATATAAACTATATATATAGTTTATATATATATAAACTATATATA TAGTTTATATATATATACTATATATAGTTTATATATATATACTATATATA TAGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0267 a0001c0001t0006g0267	1	304	0.0033	415	c.331 others(434): Show c.3314-1160_3314-1159insGTATATATATATACTATATATATAGT ATATATATATAAACTATATATAGTATATATATATAAACTATATATATAGT TTATATATATATAAACTATATATATAGTTTATATATATATAAACTATATA TATAGTTTATATATATATAAACTATATATATAGTTTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATAGTATATATATATAT AAACTATATATATAGTATATATATATAAACTATATATAGTATATATATAT ACTATATATATAGTATATATATATACTATATATATAGTATATATATATAC TATATATATAGTTTATATATATACTATATATATAGTTTATATATATATAA ACTATATATATATAAACTATATATATATATATATATATA		ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33						chr3	TogoVar
C2CD4C_chr19_400445_414147	404125	T T	TGGGGGGG others(408): Show TGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGC CCCGAGGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGT GGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGG GACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGGACGGGGCCCTG CCCCGAGGGGTGTGGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTG GGGGGGGGGGGGACGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGA CGGGGCCCTGCCCCGAGGGGTGTGGGGGGGGGGGGGACGGGGCCCTGCCC CGAGGGGTGTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0086 a0001c0001t0036g0086	1	322	0.0031	415	c.29 others(426): Show c.2970_*2971insCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCC CCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACAC CCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCCCTCGGGGCAGG GCCCCGTCCCCCCCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCC CCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCCACACC CCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCCCTCGGGGCAGGG CCCCGTCCCCCCCCCCCCCACACCCCCTCGGGGCAGGGCCCCGTCCCCCC CCCCCCCACACCCCTCGGGGCAGGGCCCCGTCCCCCCCCCCCCCACACCC CTCGGGGCAGGGCCCCGTCCCCCCCCCCCCC		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1319		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(408): Show ATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAG ACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGA GTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGG TGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGC GGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0016 a0016	a0016c0134 a0016c0134	a0016c0134t0003 a0016c0134t0003	a0016c0134t0003g0308 a0016c0134t0003g0308	1	338	0.0030	415	c.300 others(432): Show c.300-9309_300-9308insCCGGGGGCGGGGTACGTGGGGGGCGGGT GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTACGTGGGG GGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTG GGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGC GGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC63_chr12_110841987_110912535	110905917	A A	ATATATAA others(408): Show ATATATAATATATATTATATATAATATATATTATATTATATATAATATAT ATTATATAAAATATATATTATATTATATATAATATATATTATATAAAATA TATATTATATTATATATAATATATATTATATAAAATATATATTATATTAT ATATAATATATATTATATAAAATATATATTATATTATATATAATATATAT TATATATAATATATATTATATTATATAATATATATTATATAAAATATATA TTATATTATATATAATATATATTTTATAAAATATATATTATATTATATAA TATATATTTTATAAAATATATATTATATTATATATAATATATATTATATA AAATATATATTATATTATATAATATATATTATATATAATATATATTATAT AAAATATATATTATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0261 a0001c0001t0003g0261	1	288	0.0035	415	c.154 others(434): Show c.1546+1146_1546+1147insTAATATATATTATATTATATATAATA TATATTATATAAAATATATATTATATTATATATAATATATATTATATAAA ATATATATTATATTATATATAATATATATTATATAAAATATATATTATAT TATATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTATATATAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATATAATATATATTTTATAAAATATATATTATATTATA TAATATATATTTTATAAAATATATATTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAATATATATTATATATAATATATATTA TATAAAATATATATTATATTATATAATATATATTATATA		CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(408): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTC CCCTCCCCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	256	0.0039	415	c.-45 others(436): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTT CCCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(408): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCTTCTT CCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0001 a0001c0002t0008g0001	1	354	0.0028	415	c.69 others(426): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCTTCTTCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCC CCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTC TCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(408): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCCTC CGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTT CCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCC CCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCT CCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0003 a0001c0003t0004g0003	1	354	0.0028	415	c.69 others(426): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCT CCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCT TCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCC CACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGT GCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGC CCCTCCCCTCCCCCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA20905.hp2 HG03486.hp1 NA20905.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0244 a0004c0005t0002g0257 a0004c0005t0002g0244 a0004c0005t0002g0257	2	428	0.0047	415	c.217 others(432): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGT GCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGT GGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCT GGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0252 a0004c0005t0002g0252	1	428	0.0023	415	c.217 others(432): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(408): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGC CCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCG TGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCG CCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03654.hp1 HG03669.hp1 HG02258.hp1 HG03654.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0243 a0004c0005t0002g0249 a0004c0005t0002g0251 a0004c0005t0002g0243 a0004c0005t0002g0249 a0004c0005t0002g0251	3	428	0.0070	415	c.217 others(432): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCG TGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTG TGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCC TGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC		CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(408): Show CCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCC CTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCA CCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTC CCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCCTGTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0113 a0001c0005t0001g0113	1	223	0.0045	415	c.-42 others(426): Show c.-4215_-4214insCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCC CTCTCTCCACCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCT CTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCC CTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCA CCTCCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTG		CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding					3932		chr19	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(408): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTT TTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01074.hp1 others(32): Show HG00323.hp1 HG00639.hp2 HG01074.hp1 HG02004.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02523.hp1 HG02559.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG03195.hp1 HG03225.hp1 HG03688.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18966.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA19011.hp2 NA19043.hp2 NA19085.hp2 NA19086.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(1): Show a0001c0001 a0002c0002 a0004c0004 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0004c0004t0003 a0005c0013t0001	a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0002g0129 others(32): Show a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0002g0129 a0001c0001t0003g0109 a0001c0001t0003g0144 a0002c0002t0001g0093 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0200 a0002c0002t0002g0113 a0002c0002t0002g0123 a0002c0002t0007g0142 a0002c0002t0007g0143 a0004c0004t0003g0119 a0005c0013t0001g0138	35	320	0.1094	415	c.-52 others(432): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246576200	A A	ACTCCAGC others(408): Show ACTCCAGCCTGGGTGACAAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAA AAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTATAACTGGTGG GGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCACATCATGTT TTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02897.hp1 NA20129.hp1 HG01243.hp2 HG02897.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0001 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0135 a0001c0001t0004g0134 a0001c0001t0016g0136 a0001c0001t0001g0135 a0001c0001t0004g0134 a0001c0001t0016g0136	3	320	0.0094	415	c.-52 others(432): Show c.-52+9549_-52+9550insTGACAAGAGCGAGACTCTGTCTCAAAAA AAAAAAAAAAAAAAAAAGATTTCAGTGCTCAAGGTTGTATTTCTGTTTAT AACTGGTGGGGGGGGGGAGTTAAATTAATTTTGCCTTTGGGACAACATCA CATCATGTTTTAGAAACAAACATTTCTCGGCCGGGCGCGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCGTGGCTAACACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCGCTCCAGCCTGGG		CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
COL6A1_chr21_45976770_46010048	45999935	T T	TGGGAAGA others(408): Show TGGGAAGACCCGTGAGGATCATGGGGGGGACGTGTGAGGATCATAGGGGA GACCCGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAAGTG TGAGGATCATGGGGGGATGTGTGAGGATCATAGAGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGGGGGGACCCGTGAGGATCATGGGGG ACATGTGAGGATCATGGGGGACATGTGAGGATCATGGAGGGCATGTGAGG ATCATGGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGG ACATGTGAGGATCATGGGAAGACGTGAGGATCATGGGGGGGACGTGTGAG GATCATGGGGGGACCCATGAGGGTCATGGGGGGACGTGAGGATTGGGGGG ACCCGTGAGGATCATG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0049 a0001c0018t0001g0049	1	128	0.0078	415	c.177 others(432): Show c.1776+246_1776+247insAAGACCCGTGAGGATCATGGGGGGGACG TGTGAGGATCATAGGGGAGACCCGTGAGGGTCATGGGGGGATGTGTGAGG ATCATGGGGGGGGAAGTGTGAGGATCATGGGGGGATGTGTGAGGATCATA GAGGGGACATGTGAGGATCATGGAGGGCATGTGAGGATCATGGGGGGGAC CCGTGAGGATCATGGGGGACATGTGAGGATCATGGGGGACATGTGAGGAT CATGGAGGGCATGTGAGGATCATGGAGGGCATGTGAGGATCATGGAGGGC ATGTGAGGATCATGGGGGACATGTGAGGATCATGGGAAGACGTGAGGATC ATGGGGGGGACGTGTGAGGATCATGGGGGGACCCATGAGGGTCATGGGGG GACGTGAGGATTGGGGGGACCCGTGAGGATCATGGGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
DIP2C_chr10_269201_694668	556156	G G	GCACCCAC others(408): Show GCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCT CCCACAGCCGGATCCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCC AGGACGGCACCCACCCACCCCTCCCACAGCCAGATCCCAGGACGGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTC CCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGAT CCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGG ATCCCAGGACGGCACC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	88	0.0114	415	c.86- others(432): Show c.86-69627_86-69626insGGTGCCGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGT GGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCT GGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTG TGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGG GTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DNAH10_chr12_123757301_123940714	123911548	G G	GGGGGGTC others(408): Show GGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGTCTGTCCCAGGGGATC TGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCTGGGGGGACTGTCCT GGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGGGG GGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGTTTG TCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGAGTCTGTCCT GGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGG GGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGT CTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTC CTTGGGGGACTGTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0072 a0072	a0072c0075 a0072c0075	a0072c0075t0001 a0072c0075t0001	a0072c0075t0001g0124 a0072c0075t0001g0124	1	170	0.0059	415	c.101 others(434): Show c.10134+878_10134+879insGGGTCTGTCCCGGGGGGACTGTCCTG GGGGGTCTGTCCCAGGGGATCTGTCCTGGGGGGGGTCTGTCCCGGGGGGT CTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCCTGGGGGGGTCTGTCC TGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGG GGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTC TGTCCTGGAGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGT CCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGG GTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGG		DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78					INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(408): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATCCCATATATATGATATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCATATATATGGGATATATATATATCATATAT ATCATATATATGGGATATATATATCATATATATCATATATATGGGATATA TATATCATATATATCATATATATGGGATATATATATCATATATATCATAT ATATGGGATATATATATCATATATATCATATATATGGGATATATATATCA TATATATCATATATATGGGATATATATATCATATATATCATATATATGGG ATATATATATCATATATATGGGATATATATATCATATATATCATATATAT GGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	336	0.0030	415	c.22- others(432): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATATCCCATATATATG ATATATATGATATATATATCCCATATATATGATATATATGATATATATAT CCCATATATATGATATATATGATATATATATCCCATATATATGATATATA TGATATATATATCCCATATATATGATATATATGATATATATATCCCATAT ATATGATATATATGATATATATATCCCATATATATGATATATATGATATA TATATATCCCATATATATGATATATATATCATATATATCATATATATGGG ATATATATATCATATATATATCATATATATGGGATATATATATCATATAT ATATCATATATATGGGATATATATATCATATATATAT		DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15						chr12	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(408): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTACT AAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACATTA TTATTAAACGGGCCCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0158 a0001c0003t0006g0158	1	372	0.0027	415	c.346 others(432): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGC CCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAA CGGGCCCCTTCTTCACATTATTACTAAACAGGCCCCTTCTTAACATTATT ATTAAACAGGCCTTTCATAACATTATTATTAAACGGGCCCCTTCTTCACA TTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCA TAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCC CCTTCTTAACATTATTATTAAACAGGCCTTTCATAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157369638	T T	TTTCTTCA others(408): Show TTTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAAC AGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTAT TAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTT ATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCCCCTTCTT AACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCC TTCTTCACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACATTGTTATT AAAGAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTA TTATTAAACGGGCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG02647.hp2 HG00733.hp1 HG00735.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0008g0355 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0008g0355	3	372	0.0081	415	c.346 others(432): Show c.346+2301_346+2302insGTTATTATTAAACGGGCCCCTTCTTCAC ATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTC ATAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGC CCCTTCTTAACATTATTATTAAACAGGCCTTTCATAACGTTATTATTAAA CGGGCCCCTTCTTCACATTGTTATTAAAGAGGCCCCTTCTTAACATTATT ATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTCACA TTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCTTTCA TAACGTTATTATTAAACGGGCCCCTTCTTCACATTATTATTAAACAGGCC CCTTCTTAACATTATTATTAAACAGGCCTTTCATAAC		DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
DOC2B_chr17_137789_186650	140843	T T	TTGGTGAG others(408): Show TTGGTGAGGGGACATGGTGAGGAGGACCTGGTGAGGGGACATGGTGAGGG GACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTG AGGAGGACCTGCTGAGGGGACCTGGGGGGGACCTTGGTGAGGGGACATGG TGAGGAGGACCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAA CATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGTGAG GGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGG GTGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACCTGGGGGGGACCTTG GTGAGGGGACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGA CCTGGTGAGGGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp1 HG00280.hp2 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0267 a0001c0002t0016g0268 a0001c0002t0016g0267 a0001c0002t0016g0268	2	339	0.0059	415	c.65 others(426): Show c.6597_*6598insGGTCCCCCTCACCAGGTCCCCTCACCAGGTCCTC CTCACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGGTC CTCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAG GTCCTCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGTCCTCCTCA CCAGGTCCCCTCACCAAGGCTCCCCACCCATGTTCCCCTCACCATGCTCC CCTCACCATGTCCCCTCACCAGGTCCTCCTCACCATGTCCCCTCACCAAG GTCCCCCCCAGGTCCCCTCAGCAGGTCCTCCTCACCAGGTCCCCTCACCA GGTCCTCCTCACCATGCTCCCCTCACCATGTCCCCTCACCATGTCCCCTC ACCAGGTCCTCCTCACCATGTCCCCTCACCA		DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding					1945		chr17	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(408): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTGTATATATATAGTATATATATATATAGTG TATATATATAGTATATATATAGTATATATATAGTATATATAGTATATATG TATATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATA TATAGTATATATATAG	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0180 a0001c0002t0001g0180	1	316	0.0032	415	c.355 others(434): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTA TATATAGTATATATGTATATATATATAGTATATATATAGTATATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
FAM200A_chr7_99541300_99557114	99549037	C C	CGCCTGGC others(408): Show CGCCTGGCTAATTTTGTATTTTTAGCAGAGATGGGGTTTCTCTATGTTGG TCAGGGCTGGTCTCGAACTCCCGACCTCAGATGATCCGCCTGCTTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCGATCTA GTCACTCTTATAAATGATCATCAAGGCCGGGCACGGTGGCTCACGCCTGT AACCCCAGCACTTTGGGAGGCTGAGGCAGGCGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACATAGTGAAACACTGTCTCTACTAAAAATAC AAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCGCAGCTGCTCG GGAGGCTGAGGCAGGAGAATGGGAGGCAGACTTTGTAGTGAGCCGAGATT GGGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02717.hp1 others(3): Show HG02055.hp2 HG02486.hp1 HG02717.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	6	378	0.0159	415	c.-99 others(430): Show c.-99-532_-99-531insTGGAGTGCAGTGGCCCAATCTCGGCTCACT ACAAAGTCTGCCTCCCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGCGAC TACAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGA GACAGTGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCA CCGTGCCCGGCCTTGATGATCATTTATAAGAGTGACTAGATCGGCCAGGC ACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAAGCAGGCG GATCATCTGAGGTCGGGAGTTCGAGACCAGCCCTGACCAACATAGAGAAA CCCCATCTCTGCTAAAAATACAAAATTAGCCAGGC		FAM200A	ENSG00000221909.3	transcript	ENST00000449309.2	protein_coding	1/1						chr7	TogoVar

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Search Results (Total: 10000 hits)