Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TRIM49D1_chr11_89906409_89927245	89909183	T T	TAAATATT others(301): Show TAAATATTTGTATATATATATTTTATATGAAATATAAATATTTGTATATT ATATATTTTATGTAAAATATAAATATATAAATATTTGTATATTATATATT TTATGTAAAATATAAATATATAAATATTTGTATATTATATATTTATATAA AATATAAATATACAAATATTTGTATATTATATATTTATATAAAATATAAA TATACAAATATTTATATAAAATATAAATATACAAATATTTGTATATTTAT ATAAAATATAAATATACAAATATTTGTATATTATATATTTATATAAAATA TAAATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	208	0.0048	308	c.24 others(319): Show c.2403_*2404insGTATATTTATATTTTATATAAATATATAATATAC AAATATTTGTATATTTATATTTTATATAAATATACAAATATTTGTATATT TATATTTTATATAAATATTTGTATATTTATATTTTATATAAATATATAAT ATACAAATATTTGTATATTTATATTTTATATAAATATATAATATACAAAT ATTTATATATTTATATTTTACATAAAATATATAATATACAAATATTTATA TATTTATATTTTACATAAAATATATAATATACAAATATTTATATTTCATA TAAAATATATATATACAAATATTT	TRIM49D1	ENSG00000223417.9	transcript	ENST00000420869.3	protein_coding		2225		chr11	TogoVar
TSEN15_chr1_184046730_184079212	184055981	A A	AAAAATCT others(301): Show AAAAATCTTATCTTTTTTTTTTTTTTTTTGAGGCGGAGTCTCCCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGAAGGCTCCGCCCC CCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0169 a0001c0001t0010g0169	1	422	0.0024	308	c.353 others(325): Show c.353+1133_353+1134insTTTTTTTTTTTTTGAGGCGGAGTCTCCC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGAAGGCTC CGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCTACCTCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCATCGCGCCCGGCCAAAATCTTATCTTTT	TSEN15	ENSG00000198860.14	transcript	ENST00000645668.2	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(301): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG01891.hp2 HG02622.hp2	a0001 a0008 a0001 a0008	a0001c0004 a0008c0021 a0001c0004 a0008c0021	a0001c0004t0002 a0008c0021t0002 a0001c0004t0002 a0008c0021t0002	a0001c0004t0002g0188 a0008c0021t0002g0189 a0001c0004t0002g0188 a0008c0021t0002g0189	2	336	0.0060	308	c.514 others(325): Show c.514-3951_514-3950insTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTLL11_chr9_121810674_122098308	121971182	C C	CTGCCCGG others(301): Show CTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGT CCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02922.hp2 others(1): Show HG02559.hp1 HG02809.hp2 HG02922.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0004c0005t0046	a0001c0001t0001g0100 a0001c0001t0008g0141 a0001c0001t0013g0138 others(1): Show a0001c0001t0001g0100 a0001c0001t0008g0141 a0001c0001t0013g0138 a0004c0005t0046g0036	4	174	0.0230	308	c.148 others(327): Show c.1481+2826_1481+2827insAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCGG GCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCTGGACGGGGCGGCTGGCCGGGCA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(301): Show ATATATATACGTATATATATATACGTATATATATATGTATATATATATAC GTATATATATATGTATATATATATGTGTATATATATGTATATATATACGT ATATATATATACGTATATATATACGTATATATATATGTATATATATACGT ATATATGTATATATATATGTATATATATACGTATATATGTATATATATAT GTATATATATACGTATATATATGTATATATACGTATATATATGTGTATAT ATACGTATATATATGTATATATATATGTATATATATGTATATATGTATAT ATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	186	0.0054	308	c.114 others(329): Show c.1149+22381_1149+22382insCACATATATATATACATATATACA TATATATACATATATATATACATATATATACGTATATATACACATATATA TACGTATATATACATATATATACGTATATATATACATATATATATACATA TATACGTATATATATACATATATATATACATATATACGTATATATATACA TATATATATACGTATATATATACGTATATATATATACGTATATATATACA TATATATACACATATATATATACATATATATATACGTATATATATATACA TATATATATACGTATATATATATACGTATATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE4A_chr11_118354600_118404211	118355930	C C	CACACATA others(301): Show CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA CATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02895.hp1 HG02897.hp1 HG01074.hp1 HG02895.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0007 a0002c0002t0002g0062 a0002c0002t0002g0063 a0001c0001t0002g0007 a0002c0002t0002g0062 a0002c0002t0002g0063	3	320	0.0094	308	c.-37 others(319): Show c.-3786_-3785insACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3669		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370063	A A	ATATGTGT others(301): Show ATATGTGTGTGTATATGTGTGTGTGTATATGTGTGTGTATATGTGTGTGT ATGTGTGTGTATGTGTGTGTATATGTGTGTATATGCGTCTGTATATGCGT GTGTATATGCGTGTGTATGTGTGTGTATATATGTGTGTATATATGTGTGT GTATATGTGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTAT ATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTGTATATGCGTGTGT ATGTGTGTGTATAGGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTAT ATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	468	0.0021	308	c.-6- others(323): Show c.-6-3643_-6-3642insGTATATGTGTGTGTGTATATGTGTGTGTAT ATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTATATGCGTCT GTATATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATATGTGTGTAT ATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGTATAT GTGTGTGTATATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTGTAT ATGCGTGTGTATGTGTGTGTATAGGCGTGTGTATATGTGTGTGTGTATAT GTGTGTGTATATGTGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370778	C C	CGTGTATA others(301): Show CGTGTATATGTGTGTGTATATGTGTGTGTGTATGTGTGTGTATGCGTGTG TATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATG TGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATA TGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGCGTGTG TATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTA TATGCGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTG TGTGTATGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18953.hp2 NA18960.hp2 others(3): Show HG00438.hp1 NA18953.hp2 NA18960.hp2 NA18967.hp2 NA18986.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0386 a0001c0002t0005g0387 a0001c0002t0005g0388 others(3): Show a0001c0002t0005g0386 a0001c0002t0005g0387 a0001c0002t0005g0388 a0001c0002t0005g0389 a0001c0002t0005g0392 a0001c0002t0005g0393	6	468	0.0128	308	c.-6- others(323): Show c.-6-2933_-6-2932insATATGTGTGTGTATATGTGTGTGTGTATGT GTGTGTATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGT ATATGCGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGT GTGTGTATGCGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGT GTATGTGTGTGTGTATATGCGTGTGTATATGTGTGTGTATGTGTGTGTGT ATGTGTGTGTATGTGTGTGTATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679474	T T	TTATATAT others(301): Show TTATATATTTAGTTTATAGATACATGTTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	250	0.0040	308	c.82+ others(323): Show c.82+6026_82+6027insATTTAGTTTATAGATACATGTTTATATATT TAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATA TATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTAT ATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAA ATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC80_chr2_209766832_210004296	209903587	T T	TATATATA others(301): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATAGTATATA TGTAATATATATACTATATATAGTATATATGTAATATATATACTATATAT AGTATATATGTAATATATATATACTATATATAGTATATATGTAATATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATACTATATATAGT ATATATGTA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0167 a0001c0002t0003g0167	1	188	0.0053	308	c.458 others(327): Show c.4582-1171_4582-1170insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAA TATATATACTATATATAGTATATATGTAATATATATATACTATATATAGT ATATATGTAATATATATACTATATATAGTATATATGTAATATATATACTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(301): Show CTCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAA ACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCT ATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTT TAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCT AGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTA TTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAA AAACTATTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0088 a0010c0015t0088	a0010c0015t0088g0052 a0010c0015t0088g0052	1	342	0.0029	308	c.-13 others(327): Show c.-134-5847_-134-5846insTAATAGTTTTTATAGATTAAAAACTA GATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAA AAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATA GATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTT TTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATA ATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAAAAAC TAGATAATAGTTTTTATAGATTAAAAACTAGA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159129212	T T	TGGGGACA others(301): Show TGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGA CTCTGGTGGGGACAGGGCCAGGTGAGCAGCTTCACACTCTGTTCCCTCAA ACTGGCCTCTGGGGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGC TTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTG ACCAGCTTCACACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGC CAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGA CAGGGCTGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp2 HG02897.hp1 others(3): Show HG01891.hp1 HG02647.hp2 HG02897.hp1 HG03041.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0012 a0001c0013 a0001c0005 a0001c0012 a0001c0013	a0001c0005t0006 a0001c0005t0013 a0001c0012t0008 others(2): Show a0001c0005t0006 a0001c0005t0013 a0001c0012t0008 a0001c0013t0007 a0001c0013t0012	a0001c0005t0006g0076 a0001c0005t0013g0174 a0001c0005t0013g0175 others(3): Show a0001c0005t0006g0076 a0001c0005t0013g0174 a0001c0005t0013g0175 a0001c0012t0008g0074 a0001c0013t0007g0073 a0001c0013t0012g0188	6	336	0.0179	308	c.151 others(327): Show c.151+13233_151+13234insCCAGCCCTGTCCCCCCCAGAGGCCAG TTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGA GTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCC ACCAGAGTCCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCT GTCCCCCCAGCCCTGTCCCCCCCAGAGGCCAGTTTGAGGGAACAGAGTGT GAAGCTGCTCACCTGGCCCTGTCCCCACCAGAGTCCAGTTTGAGGGAACA GAGTGTGAAGCTGGTCACCTGGCCCTGTCCCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC ATAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	328	0.0031	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01074.hp2 others(21): Show HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01168.hp2 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02083.hp2 HG02486.hp2 HG03491.hp2 HG04204.hp1 NA18612.hp2 NA18941.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18999.hp2 NA19063.hp2 NA19066.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0057 others(21): Show a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0203 a0001c0001t0001g0209 a0001c0001t0001g0228 a0001c0001t0001g0324 a0001c0001t0002g0295 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0004t0001g0003 a0002c0002t0001g0148 a0002c0002t0001g0229 a0003c0003t0001g0047 a0003c0003t0001g0051	24	328	0.0732	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00438.hp2 others(72): Show HG00099.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02818.hp1 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03239.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG04228.hp1 NA18612.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18966.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19056.hp2 NA19060.hp2 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0009 others(4): Show a0001c0001 a0001c0004 a0001c0009 a0001c0011 a0002c0002 a0002c0016 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0004t0003 a0001c0009t0001 a0001c0011t0004 a0002c0002t0002 a0002c0002t0003 a0002c0016t0003 a0003c0003t0001 a0003c0003t0002	a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0050 others(71): Show a0001c0001t0001g0010 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0264 a0001c0001t0001g0327 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0289 a0001c0001t0002g0299 a0001c0001t0002g0305 a0001c0001t0002g0311 a0001c0001t0002g0314 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0004g0101 a0001c0001t0006g0285 a0001c0004t0003g0001 a0001c0009t0001g0096 a0001c0009t0001g0232 a0001c0011t0004g0021 a0002c0002t0002g0304 a0002c0002t0003g0027 a0002c0016t0003g0034 a0003c0003t0001g0102 a0003c0003t0001g0131 a0003c0003t0001g0231 a0003c0003t0001g0242 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0002g0302	75	328	0.2287	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VIT_chr2_36691707_36819794	36777088	C C	CAAAAAAA others(301): Show CAAAAAAATTAAAATTAAATTCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGGGC TTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01256.hp2 HG01074.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0288 a0001c0001t0001g0105 a0001c0001t0002g0288	2	328	0.0061	308	c.802 others(325): Show c.802+2040_802+2041insTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAAAAAATACAAAAAATTAGCCGG GCTTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAATTAAAATTAAAT	VIT	ENSG00000205221.13	transcript	ENST00000379242.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(301): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	408	0.0025	308	c.53+ others(323): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VSIG10L_chr19_51326541_51347139	51345993	C C	CCTCCCTA others(301): Show CCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCTATAGGCTGAGAT GATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCT ATAGGCTGAGATGATGCGCAGAACCCTCCTAGCTGATGATGCGCTGAACC CTCCCTATAGGCTGAGATGATGCGCTGAACCCCTCCCTATAGGCTGAGAT GATGCGCTGAACCCTCCCTATAGGCTGAGATGATGCGCTGAACCCTCCCT ATAGGCTGAGATGATGCCGCTGAAGACCCTGCCTATAGACTGAGATGATG CGCTGAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0001 a0000c0002t0001	a0000c0002t0001g0001 a0000c0002t0001g0001	1	452	0.0022	308	c.-38 others(319): Show c.-3870_-3869insAGTTCAGCGCATCATCTCAGTCTATAGGCAGGGT CTTCAGCGGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGGTTCA GCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCAGCTAGGAG GGTTCTGCGCATCATCTCAGCCTATAGGGAGGGTTCAGCGCATCATCTCA GCCTATAGGGAGGGTTCAGCGCATCATCTCAGCCTATAGGGAGGGTTCAG CGCATCATCTCAGCCTATAGGGAG	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding		3855		chr19	TogoVar
WDR89_chr14_63592039_63646871	63620897	C C	CAAAAAAA others(301): Show CAAAAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	284	0.0035	308	c.-32 others(325): Show c.-32+4030_-32+4031insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACGACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTTTTTTTTTTTTT	WDR89	ENSG00000140006.12	transcript	ENST00000620954.2	protein_coding	2/2			chr14	TogoVar
WNK1_chr12_747579_916452	878786	T T	TTTTTTTT others(301): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGT CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18959.hp2 NA18963.hp1 others(1): Show HG02056.hp2 NA18959.hp2 NA18963.hp1 NA19080.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0006 a0004c0004 a0005c0006	a0004c0004t0003 a0005c0006t0009 a0004c0004t0003 a0005c0006t0009	a0004c0004t0003g0072 a0004c0004t0003g0077 a0004c0004t0003g0097 others(1): Show a0004c0004t0003g0072 a0004c0004t0003g0077 a0004c0004t0003g0097 a0005c0006t0009g0041	4	284	0.0141	308	c.237 others(325): Show c.2373+433_2373+434insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTTTTTTT	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	10/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZFP42_chr4_187990771_188010046	187992046	G G	GGGGAGAG others(301): Show GGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGTGGGGAGAGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGG AGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG AGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAG AGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGG AGAGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	448	0.0022	308	c.-41 others(319): Show c.-4133_-4132insGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAG AGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG ACCGTGGGGAGAGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGG AGACCGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGAGGGAGAC CGTGGGGAGAGGGAGAGTGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAG AGGGAGACCGTGGGGAGAGGGAGA	ZFP42	ENSG00000179059.10	transcript	ENST00000326866.5	protein_coding		3724		chr4	TogoVar
ZNF182_chrX_47969851_48008989	47971402	T T	TGTATACA others(301): Show TGTATACATATGTATATACACGTGTATACGTATACATATGTATATACACG TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA19012.hp1 HG02559.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0007g0055 a0001c0001t0001g0001 a0001c0001t0007g0055	2	270	0.0074	308	c.47 others(319): Show c.4764_*4765insGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATACACGTGTATATACATATGTATACGTAT ACACGTGTATATACATATGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3448		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971450	C C	CGTGTATA others(301): Show CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACA TATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACG TATACATATGTATATACACGTGTATACGTATACATATGTATATACACGTG TATACGTATACATATGTATATACACGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTA TATACACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	270	0.0037	308	c.47 others(319): Show c.4716_*4717insACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC GTGTATATACATATGTATACGTATACACGTGTATATACATATGTATACGT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3400		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(301): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTGTATATGTACACATATG TATATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0039 a0001c0001t0009g0039	1	270	0.0037	308	c.46 others(319): Show c.4686_*4687insTTGTATATACATATGTGTACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971480	T T	TGTATACG others(301): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTGTATATGTATACATATG TATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	270	0.0037	308	c.46 others(319): Show c.4686_*4687insGTGTATATACATATGTATACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3370		chrX	TogoVar
ZNF182_chrX_47969851_48008989	47971510	T T	TGTATACG others(301): Show TGTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATA TACACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATA TGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTA TACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTA TACGTATACATATGTATATACACGTGTATACGTATACATATGTATATACA CGTGTATACGTATACATATGTATATACACGTGTGTATATGTATACATATG TATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02717.hp1 others(1): Show HG02622.hp2 HG02630.hp2 HG02717.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0056 a0001c0001t0003g0057 others(1): Show a0001c0001t0003g0024 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058	4	270	0.0148	308	c.46 others(319): Show c.4656_*4657insGTGTATATACATATGTATACATATACACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACATATGTATACGTATAC	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3340		chrX	TogoVar
ZNF492_chr19_22629324_22672671	22636886	G G	GGCCTCCC others(301): Show GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAA TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCC AGGCTGGAGTGCAATAGTGCCATTTCGGCTCACTGCAACCTCCGTCTCCC GGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAG GCATGCGCCACCTCTCCTAGCTAATTTTGTACTTTTAGTAGAGACAGTGT TTCTCCATGTTGGTCAGGCTCGTCTTGACCTCCCGACCTCAGGTGATCCA CTCACCTCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0038	a0002c0002t0038g0086 a0002c0002t0038g0086	1	366	0.0027	308	c.-94 others(325): Show c.-94+2449_-94+2450insGTGCCCGGCCAATTTTTTTTTTTTTTTT TTTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATA GTGCCATTTCGGCTCACTGCAACCTCCGTCTCCCGGGTTCAAGGGATTCT CCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCTCTC CTAGCTAATTTTGTACTTTTAGTAGAGACAGTGTTTCTCCATGTTGGTCA GGCTCGTCTTGACCTCCCGACCTCAGGTGATCCACTCACCTCAGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACC	ZNF492	ENSG00000229676.3	transcript	ENST00000456783.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF804B_chr7_88754700_89343528	88855316	T T	TCTCATTG others(301): Show TCTCATTGTGGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0075 a0001c0004t0002g0075	1	166	0.0060	308	c.108 others(327): Show c.108+95246_108+95247insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCACCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF804B_chr7_88754700_89343528	88855316	T T	TCTCATTG others(301): Show TCTCATTGTGGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00673.hp2 others(24): Show HG00558.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01256.hp1 HG01358.hp1 HG01978.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03579.hp2 NA18522.hp1 NA18747.hp1 NA18962.hp1 NA18968.hp1 NA18992.hp2 NA18998.hp2 NA19009.hp2 NA19058.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0009 a0010 a0013 a0022	a0001c0001 a0001c0004 a0002c0002 others(9): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0002c0022 a0003c0003 a0003c0005 a0005c0009 a0009c0011 a0010c0012 a0013c0030 a0022c0028	a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0004t0002 a0001c0004t0014 a0002c0002t0001 a0002c0002t0004 a0002c0002t0012 a0002c0007t0001 a0002c0007t0004 a0002c0022t0001 a0003c0003t0003 a0003c0005t0003 a0005c0009t0004 a0009c0011t0001 a0010c0012t0001 a0013c0030t0002 a0022c0028t0003	a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0005g0071 others(24): Show a0001c0001t0002g0070 a0001c0001t0002g0080 a0001c0001t0005g0071 a0001c0004t0002g0144 a0001c0004t0014g0077 a0001c0004t0014g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0090 a0002c0002t0004g0085 a0002c0002t0012g0089 a0002c0007t0001g0139 a0002c0007t0004g0083 a0002c0022t0001g0086 a0003c0003t0003g0020 a0003c0003t0003g0064 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0005t0003g0066 a0003c0005t0003g0140 a0003c0005t0003g0145 a0005c0009t0004g0084 a0009c0011t0001g0087 a0010c0012t0001g0061 a0013c0030t0002g0069 a0022c0028t0003g0019	27	166	0.1627	308	c.108 others(327): Show c.108+95246_108+95247insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	ZNF804B	ENSG00000182348.7	transcript	ENST00000333190.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(301): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATATATATAAATATATATATATTTCTATATATATAAATATAT ATATATTTCTATATATATAAATATATATATATTTCTATATATATAAATAT ATATATATTTCTATTTATATATATATATATATTTATATATATAGAAATAT ATATATATTTATATATATATAAAATATATATTTATATATATATAAAATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0185 a0001c0001t0012g0185	1	400	0.0025	308	c.532 others(323): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATTTTATATATATATAAATATATATATATTTCTATATATATAAATA TATATATATATATAAATAGAAATATATATATATTTATATATATAGAAATA TATATATATTTATATATATAGAAATATATATATATTTATATATATAGAAA TATATATATATTTATATATATAGAAATATATATATATTTATATATATAGA AATATATATATATTTATATATATAGAAATATATATATATTTATATATATA GAAATATATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ACSS2_chr20_34871612_34932959	34885959	T T	TAGGCAAT others(302): Show TAGGCAATTACTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCC CTGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0011 a0006c0012t0001g0011	1	312	0.0032	309	c.374 others(326): Show c.374+2985_374+2986insTTTTTTTTTTTTTGAGACGGAGTCTCGC TGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTC CGCCCCCTGGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCACCACCTCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAGGCAATTACTATTT	ACSS2	ENSG00000131069.20	transcript	ENST00000360596.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
ACTG2_chr2_73888008_73924865	73898352	T T	TGCACCTT others(302): Show TGCACCTTTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18992.hp1 NA19082.hp2 HG02056.hp2 NA18992.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0150 a0001c0001t0003g0103 a0001c0001t0003g0247 a0001c0001t0001g0150 a0001c0001t0003g0103 a0001c0001t0003g0247	3	416	0.0072	309	c.-36 others(326): Show c.-36-2913_-36-2912insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGCACCTTTTCT	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(302): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02055.hp2 HG02572.hp2 others(1): Show HG01981.hp1 HG02055.hp2 HG02572.hp2 HG03688.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0007 a0002c0073 a0005c0045 others(1): Show a0001c0007 a0002c0073 a0005c0045 a0006c0056	a0001c0007t0010 a0002c0073t0051 a0005c0045t0013 others(1): Show a0001c0007t0010 a0002c0073t0051 a0005c0045t0013 a0006c0056t0029	a0001c0007t0010g0011 a0002c0073t0051g0183 a0005c0045t0013g0005 others(1): Show a0001c0007t0010g0011 a0002c0073t0051g0183 a0005c0045t0013g0005 a0006c0056t0029g0033	4	228	0.0175	309	c.790 others(326): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(302): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCTGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCACTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0201 a0006c0016t0012g0201	1	228	0.0044	309	c.790 others(326): Show c.790-8337_790-8336insGCTGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGC CGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100270771	A A	ACCATTTT others(302): Show ACCATTTTAAACATTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01358.hp2 HG02055.hp1 others(8): Show HG01243.hp1 HG01358.hp2 HG02055.hp1 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03209.hp2 HG03654.hp2 HG03704.hp2 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0005 a0001c0007 a0001c0021 others(6): Show a0001c0005 a0001c0007 a0001c0021 a0001c0025 a0001c0033 a0003c0006 a0003c0009 a0005c0026 a0009c0027	a0001c0005t0005 a0001c0007t0006 a0001c0021t0006 others(8): Show a0001c0005t0005 a0001c0007t0006 a0001c0021t0006 a0001c0021t0016 a0001c0025t0008 a0001c0033t0015 a0003c0006t0003 a0003c0006t0045 a0003c0009t0003 a0005c0026t0004 a0009c0027t0001	a0001c0005t0005g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 others(8): Show a0001c0005t0005g0193 a0001c0007t0006g0202 a0001c0021t0006g0171 a0001c0021t0016g0113 a0001c0025t0008g0208 a0001c0033t0015g0178 a0003c0006t0003g0027 a0003c0006t0045g0115 a0003c0009t0003g0052 a0005c0026t0004g0195 a0009c0027t0001g0196	11	228	0.0483	309	c.790 others(326): Show c.790-8337_790-8336insGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCAGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTC TCAAAAAAAAAAAAAAAAATGTTTAAAATGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADCY2_chr5_7391138_7835081	7704000	C C	CAAAAAAA others(302): Show CAAAAAAAAAAAAAAGTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTTCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02055.hp2 HG02280.hp2 others(6): Show HG00639.hp2 HG02055.hp2 HG02280.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0013 others(3): Show a0001c0001 a0001c0007 a0001c0013 a0001c0025 a0002c0002 a0002c0004	a0001c0001t0006 a0001c0007t0006 a0001c0013t0002 others(4): Show a0001c0001t0006 a0001c0007t0006 a0001c0013t0002 a0001c0025t0004 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001	a0001c0001t0006g0051 a0001c0007t0006g0021 a0001c0007t0006g0089 others(6): Show a0001c0001t0006g0051 a0001c0007t0006g0021 a0001c0007t0006g0089 a0001c0013t0002g0082 a0001c0025t0004g0110 a0002c0002t0001g0083 a0002c0002t0005g0045 a0002c0004t0001g0041 a0002c0004t0001g0053	9	140	0.0643	309	c.111 others(328): Show c.1110-2731_1110-2730insAGTTTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTT CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCT GCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	ADCY2	ENSG00000078295.17	transcript	ENST00000338316.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADCY5_chr3_123277296_123454090	123407765	C C	CAAAAAAA others(302): Show CAAAAAAAAAAAAGTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0090 a0001c0005t0029g0090	1	260	0.0039	309	c.113 others(330): Show c.1134+39646_1134+39647insTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCCAACTTTTTTTTTTTT	ADCY5	ENSG00000173175.16	transcript	ENST00000462833.6	protein_coding	1/20			chr3	TogoVar
AFAP1_chr4_7753714_7944861	7790660	T T	TAAAAACA others(302): Show TAAAAACACTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0018 a0001c0012t0018	a0001c0012t0018g0201 a0001c0012t0018g0201	1	318	0.0031	309	c.141 others(328): Show c.1412+3020_1412+3021insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAAAGTGTTTTT	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	11/17			chr4	TogoVar
AHSA1_chr14_77453093_77474472	77460457	T T	TAAAGAAG others(302): Show TAAAGAAGGGTGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02572.hp2 HG02615.hp2 HG01070.hp1 HG02572.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0137 a0001c0003t0001g0138 a0001c0003t0001g0046 a0001c0003t0001g0137 a0001c0003t0001g0138	3	308	0.0097	309	c.271 others(324): Show c.271+663_271+664insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAGAAGGGTGC	AHSA1	ENSG00000100591.8	transcript	ENST00000216479.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP10_chr17_19899302_19982828	19910326	A A	AAAAAAAA others(302): Show AAAAAAAAAAAAAAAAAAAAAAAGGCCGGGCATGGTGGCTCACACCTGTA ATCCTAGCACTTTGGGAGGCTGAGGTGGATGGATCACCTGAGGTCAGGAG TTTGAGACCAGCCTGGCCAACATGACGAAACCATGTCTCTACTAAAAATA TAAATAATAAAAAAAATTAGCTGGGTAGTAGGCACCTGTAATCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATCGCTGGAACCCAGGAGGCGGAGGTTG CAGTAAGTCTAGATCGCACCATTGCACTACAGTCTGGGTGACAGAGCAAG ACTCTGTCTC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19068.hp2 NA18975.hp2 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0245 a0003c0003t0005g0251 a0003c0003t0005g0245 a0003c0003t0005g0251	2	278	0.0072	309	c.183 others(326): Show c.1835-349_1835-348insGAGACAGAGTCTTGCTCTGTCACCCAGA CTGTAGTGCAATGGTGCGATCTAGACTTACTGCAACCTCCGCCTCCTGGG TTCCAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTG CCTACTACCCAGCTAATTTTTTTTATTATTTATATTTTTAGTAGAGACAT GGTTTCGTCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGAT CCATCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCA TGCCCGGCCTTTTTTTTTTTTTTTTTTTTTT	AKAP10	ENSG00000108599.15	transcript	ENST00000225737.11	protein_coding	12/14			chr17	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(302): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG02040.hp1 others(21): Show HG00408.hp2 HG00544.hp2 HG02040.hp1 NA18942.hp2 NA18951.hp2 NA18952.hp2 NA18962.hp1 NA18970.hp1 NA18972.hp2 NA18977.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19083.hp1 NA19087.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0006 a0001c0011 others(1): Show a0001c0001 a0001c0006 a0001c0011 a0007c0014	a0001c0001t0005 a0001c0006t0005 a0001c0011t0005 others(1): Show a0001c0001t0005 a0001c0006t0005 a0001c0011t0005 a0007c0014t0005	a0001c0001t0005g0108 a0001c0001t0005g0153 a0001c0001t0005g0168 others(21): Show a0001c0001t0005g0108 a0001c0001t0005g0153 a0001c0001t0005g0168 a0001c0001t0005g0225 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0253 a0001c0001t0005g0317 a0001c0001t0005g0318 a0001c0001t0005g0320 a0001c0001t0005g0321 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0327 a0001c0001t0005g0329 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0006t0005g0134 a0001c0006t0005g0135 a0001c0011t0005g0285 a0007c0014t0005g0245	24	386	0.0622	309	c.186 others(328): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(302): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAGTGGGAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0070 a0001c0002t0002g0070	1	386	0.0026	309	c.186 others(328): Show c.1863+2109_1863+2110insTTCCCACTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105044600	G G	GGCCGGGC others(302): Show GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCGCTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AGAGTGGGAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(80): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01169.hp2 HG01346.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02293.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02738.hp2 HG02895.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18747.hp2 NA18942.hp1 NA18947.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp2 NA19077.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0004	a0001c0001t0004 a0001c0001t0015 a0001c0001t0032 others(8): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0032 a0001c0002t0002 a0001c0002t0010 a0001c0002t0016 a0001c0002t0033 a0001c0002t0035 a0001c0002t0037 a0001c0013t0002 a0002c0004t0002	a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0030 others(80): Show a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0046 a0001c0001t0004g0109 a0001c0001t0004g0156 a0001c0001t0004g0221 a0001c0001t0004g0233 a0001c0001t0004g0251 a0001c0001t0004g0261 a0001c0001t0004g0322 a0001c0001t0004g0328 a0001c0001t0004g0379 a0001c0001t0015g0368 a0001c0001t0032g0029 a0001c0002t0002g0024 a0001c0002t0002g0085 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0098 a0001c0002t0002g0113 a0001c0002t0002g0118 a0001c0002t0002g0126 a0001c0002t0002g0130 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0155 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0220 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0241 a0001c0002t0002g0255 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0305 a0001c0002t0002g0336 a0001c0002t0002g0346 a0001c0002t0002g0373 a0001c0002t0010g0073 a0001c0002t0016g0125 a0001c0002t0016g0292 a0001c0002t0016g0294 a0001c0002t0033g0191 a0001c0002t0035g0198 a0001c0002t0037g0190 a0001c0013t0002g0094 a0001c0013t0002g0140 a0002c0004t0002g0163 a0002c0004t0002g0230 a0002c0004t0002g0262 a0002c0004t0002g0315	83	386	0.2150	309	c.186 others(328): Show c.1863+2109_1863+2110insTTCCCACTCTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALG5_chr13_36944738_37004340	36994603	T T	TAAAAGTT others(302): Show TAAAAGTTAACAGCATGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCG GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC CGTCTCTACTAAAAGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCT GTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp2 NA19043.hp1 others(1): Show HG02572.hp1 HG03453.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041	4	276	0.0145	309	c.285 others(324): Show c.285+385_285+386insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCC GGCTAATTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCA GGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACATGCTGTTAACTTTT	ALG5	ENSG00000120697.10	transcript	ENST00000239891.4	protein_coding	3/9			chr13	TogoVar
ALS2_chr2_201695267_201785933	201766722	G G	GAAAATGT others(302): Show GAAAATGTGGCACATAGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	354	0.0028	309	c.175 others(324): Show c.175+506_175+507insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCACCCGGCCTATGTGCCACATTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	3/33			chr2	TogoVar
AMPH_chr7_38378704_38636373	38438564	T T	TCATTATT others(302): Show TCATTATTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG01496.hp1 others(3): Show HG00140.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01975.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0003 a0001c0002t0002 a0001c0007t0005 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0007t0005 a0001c0007t0008	a0001c0001t0003g0030 a0001c0001t0003g0236 a0001c0002t0002g0233 others(3): Show a0001c0001t0003g0030 a0001c0001t0003g0236 a0001c0002t0002g0233 a0001c0007t0005g0076 a0001c0007t0005g0105 a0001c0007t0008g0283	6	288	0.0208	309	c.101 others(328): Show c.1018-2177_1018-2176insGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAGGAAATAATG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANKRD11_chr16_89262630_89495561	89341900	A A	ACCCACAG others(302): Show ACCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGCACCTCCTCCACGAA CAGCAGCCACGGCCCATGGCAGGAGTGCTGCACCTCCACCCACAGCGGCC ACAGCCCACGGCGGGAGTGCTGCACCTCCACTGCCCACAGCGGCCACGGC CCACGGCGGGAGTGCTGCACCTCCTCCACGAACAGCAGCCACGGCCCATG GCAGGAGTGCTGCACCTCCACCCACAGCGGCCACAGCCCACGGCGGGAGT GCTGCACCTCCACTGCCCACAGCGGCCACGGCCCACGGCGGGAGTGCTGC ACCTCCACTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	310	0.0032	309	c.-59 others(328): Show c.-59-24823_-59-24822insCAGTGGAGGTGCAGCACTCCCGCCGT GGGCCGTGGCCGCTGTGGGCAGTGGAGGTGCAGCACTCCCGCCGTGGGCT GTGGCCGCTGTGGGTGGAGGTGCAGCACTCCTGCCATGGGCCGTGGCTGC TGTTCGTGGAGGAGGTGCAGCACTCCCGCCGTGGGCCGTGGCCGCTGTGG GCAGTGGAGGTGCAGCACTCCCGCCGTGGGCTGTGGCCGCTGTGGGTGGA GGTGCAGCACTCCTGCCATGGGCCGTGGCTGCTGTTCGTGGAGGAGGTGC AGCACTCCCGCCGTGGGCCGTGGCCGCTGTGGG	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANO3_chr11_26327130_26668289	26580099	T T	TTTTTTTT others(302): Show TTTTTTTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0177 a0001c0004t0004g0177	1	190	0.0053	309	c.144 others(330): Show c.1448-18266_1448-18265insTTTTTTTTTTTTTCTTTTTCTTTT TCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26			chr11	TogoVar
ANP32E_chr1_150213417_150241112	150227793	T T	TCAAATTT others(302): Show TCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAT GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp1 HG01346.hp2 HG01516.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0124 a0002c0001t0001g0189 a0002c0001t0001g0124 a0002c0001t0001g0189	2	370	0.0054	309	c.494 others(324): Show c.494-999_494-998insTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATATAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCGGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGAAATTTG	ANP32E	ENSG00000143401.15	transcript	ENST00000583931.6	protein_coding	4/6			chr1	TogoVar
ANXA2_chr15_60342151_60402986	60365044	A A	ATGGCAGT others(302): Show ATGGCAGTTGTATTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCTCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	334	0.0030	309	c.149 others(324): Show c.149-522_149-521insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGAGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAATACAACTGCCA	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar

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Search Results (Total: 10000 hits)