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
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(518): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0124 a0002c0002t0002g0124	1	444	0.0023	525	c.227 others(544): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(518): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01169.hp1 HG00735.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0001 a0001c0005t0003g0001	3	444	0.0068	525	c.227 others(544): Show c.2277+1629_2277+1630insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(518): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0303 a0001c0001t0005g0303	1	444	0.0023	525	c.227 others(544): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(518): Show CAGCCTCCACCATCATCACTCACCAGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp1 HG03834.hp2 HG01192.hp1 HG01433.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0039 a0001c0001t0002g0058 a0001c0004t0001g0046 a0001c0001t0002g0039 a0001c0001t0002g0058 a0001c0004t0001g0046	3	94	0.0319	525	c.129 others(546): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCTGGTGAGTGATGATGGTGGAGGC T	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129303136	C C	CAGCCTCC others(518): Show CAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCG GGACTCTGCAGAGCCTCCACCAACATCACTCGCCGGGACTCTGCAGAGCC TCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACT CGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCA GAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCACCATCA TCACTCGCCGGGACTCTGCAGAGCCTCCACCATCATCACTCGCCGGGACT CTGCAGAGCCTCCACCATCATCACTCGCCGGGACTCTGCAGAGCCTCCAC CATCATCACTCGCCGGGACTCTGCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG01167.hp1 others(6): Show HG00099.hp1 HG01074.hp2 HG01167.hp1 HG01978.hp1 HG02451.hp1 HG03017.hp1 HG03017.hp2 HG03831.hp1 HG03927.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0004 a0001c0004t0001 a0001c0006t0002 a0008c0009t0002	a0001c0001t0002g0038 a0001c0001t0002g0068 a0001c0001t0003g0085 others(6): Show a0001c0001t0002g0038 a0001c0001t0002g0068 a0001c0001t0003g0085 a0001c0001t0007g0014 a0001c0002t0004g0035 a0001c0004t0001g0057 a0001c0004t0001g0060 a0001c0006t0002g0076 a0008c0009t0002g0079	9	94	0.0957	525	c.129 others(546): Show c.1299+34497_1299+34498insCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC TCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGG CGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTG GAGGCTCTGCAGAGTCCCGGCGAGTGATGTTGGTGGAGGCTCTGCAGAGT CCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGA TGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGC AGAGTCCCGGCGAGTGATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGT GATGATGGTGGAGGCTCTGCAGAGTCCCGGCGAGTGATGATGGTGGAGGC T	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	4/8			chr12	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(518): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAG GGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGG TGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCA CAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGA GTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGG GTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAG AGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTG GGTGGGTTCACAGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0024 a0002c0007t0024	a0002c0007t0024g0092 a0002c0007t0024g0092	1	407	0.0025	525	c.305 others(540): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCACTCCC TCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAA CCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCT GTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCC ACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTC CCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTG AACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMTC2_chr12_82681906_83139866	82900207	C C	CTGTAGGA others(518): Show CTGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATA TAGATATGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAAT GTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCG GAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTA GGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACAT ATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGAT CTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATA TACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATA TAGATCTGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAAT GTATATACATATCCGGAATATAGATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0092 a0001c0001t0019g0092	1	96	0.0104	525	c.148 others(544): Show c.1483+3700_1483+3701insCTGTAGGAATGTATATACATATCCGG AATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAG GAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATA TCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATAT ACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATAT AGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATG TATATACATATCCGGAATATAGATATGTAGGAATGTATATACATATCCGG AATATAGATATGTAGGAATGTATATACATATCCGGAATATAGATATGTAG GAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATATACATA TCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMTC2_chr12_82681906_83139866	82900277	A A	ATGTAGGA others(518): Show ATGTAGGAATGTATATACATATCCGGAATATAGATATGTAGGAATGTATA TACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATA TAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAAT GTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCG GAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTA GGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACAT ATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGAT CTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATA TACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATA TAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAAT GTATATACATATCCGGAATATAGATC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	96	0.0104	525	c.148 others(544): Show c.1483+3700_1483+3701insCTGTAGGAATGTATATACATATCCGG AATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAG GAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATA TCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATC TGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATAT ACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGGAATAT AGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAGGAATG TATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATATCCGG AATATAGATCTGTAGGAATGTATATACATATCCGGAATATAGATCTGTAG GAATGTATATACATATCCGGAATATAGATCTGTAGGAATGTATATACATA TCCGGAATATAGATATGTAGGAATGTATATACATATCCGGAATATAGAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(518): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGC CAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG GTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGA GGCCAGGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA19082.hp2 NA18947.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0030 a0002c0002t0001g0108 a0001c0001t0002g0030 a0002c0002t0001g0108	2	466	0.0043	525	c.49 others(536): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507207	C C	CATACGTA others(518): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATAATGTATATATA CATGTATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATATAT ATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	388	0.0026	525	c.-23 others(542): Show c.-23+2840_-23+2841insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATACATGTA TATATACATTATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM58_chr1_247852187_247885138	247870417	G G	GCCCAGAA others(518): Show GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAG CCACCCACAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCAGAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0144 a0003c0002t0002g0144	1	454	0.0022	525	c.871 others(542): Show c.871+2462_871+2463insCGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCACGCCCAGAAGAAC GAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCAGAGAG CCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGT ATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACACCCAGAAGAAC GAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG CCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(518): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCT CCCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCC CCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC TCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCC TCCCTTCCCCTCCCATTCCTTCCCCTCCTATTCCTTCCCCTCCCTTTCTC TCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCCC CTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	64	0.0156	525	c.104 others(544): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCT CCTCTCCCCTCCCCTCCCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCC TCCCTTCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCTCCCCTCCCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCTCCCCTCCCC TCTCCTCTCCTTCCCTCCCTTCCCCTCCCATTCCTTCCCCTCCTATTCCT TCCCCTCCCTTTCTCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCT TCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(518): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCTCCC CCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCC CCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCC CCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTC CCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCT CCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	246	0.0041	525	c.53- others(538): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCT CCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTC CCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCC CCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTC CCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCT CCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876180	T T	TTCCCCCC others(518): Show TTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCTCCTTCCCCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	246	0.0041	525	c.-10 others(542): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC GTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88461041	A A	AGGGGCGG others(518): Show AGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGA CCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCT GGTGAGGACCGAGGGGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGCGG GAGGCCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGA GGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGC GGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGA GGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGC CTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGAGGCCTGGTGAGGACCCAGGGGT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0116 a0001c0001t0013g0116	1	318	0.0031	525	c.40+ others(540): Show c.40+7484_40+7485insGCCTGGTGATGACCGAGGGGTGGGGCGGGA GGCCTGGTGAGGACCGAGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGG GGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCT GGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGG GGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCT GGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGG GAGGCCTGGTGAGGACCCAGGGGTGGGGCGGGAGGCCCTGGTGAGGACCC AGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGA CCCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(518): Show CATATATCATATACATCACATACATCACATATATGATATATATATCATAT ACATCACATATATGATATATATATCATATATATCACATATATGATATATA TCATATATATCACATATATGATATATATCATATATATCACATATATGATA TATATATCATATATCACATATATGATATATATATCATATATCATATGATA TATATCATATATATCACATATATGATATATATCATATGTGATATATATCA TATATATCACATATATGATATATATCATATGTGATATATATCATATATAT CACATATATGATATATATATGTGATATATATCATATATATCACATATATG ATATATATCATATGTGATATATATCATATATATCACATATATGATATATA TCATATGTGATATATATCATATATCACATATATGATATATATCATATGTG ATATATATCATATATATCACATATATGATATATATCATATGTGATATATA TCATATATATCACATATATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0127 a0001c0001t0002g0127	1	350	0.0029	525	c.-36 others(536): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATG ATATATATATCATATACATCACATATATGATATATATATCATATATATCA CATATATGATATATATCATATATATCACATATATGATATATATCATATAT ATCACATATATGATATATATATCATATATCACATATATGATATATATATC ATATATCATATGATATATATCATATATATCACATATATGATATATATCAT ATGTGATATATATCATATATATCACATATATGATATATATCATATGTGAT ATATATCATATATATCACATATATGATATATATATGTGATATATATCATA TATATCACATATATGATATATATCATATGTGATATATATCATATATATCA CATATATGATATATATCATATGTGATATATATCATATATCACATATATGA TATATATCATATGTGATATATATCATATATATCACATATATGATATATAT CATATGTGATATATATCATATATATCACATATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(518): Show GTGATATATATCATATATATCAAATATATGATATATATCATATATGTGAT ATATATCACATATGTGATATATATCATATCACATATCATATGACATATCA TATCACATATCACATATCACATATCACATATCACATATCATATGATATAT ATCACATGTGATATATAGCATATGTGATATATATCATATATATCACATGT GATATATAGCATATGTGATATATATCATATATATCACATATGCTATATAG CATATGTGATATATATCATATATATCACATATGCTATATAGCATACGTGA TATATATCATATATATCATATATGATGTATAGCATGATATATATGCTATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATA TATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATG TGATATATATGATATATGTGATATATATCATATGTGATATATATGATATA TATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	350	0.0029	525	c.-35 others(536): Show c.-3503_-3502insTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATCACATA TCATATGACATATCATATCACATATCACATATCACATATCACATATCACA TATCATATGATATATATCACATGTGATATATAGCATATGTGATATATATC ATATATATCACATGTGATATATAGCATATGTGATATATATCATATATATC ACATATGCTATATAGCATATGTGATATATATCATATATATCACATATGCT ATATAGCATACGTGATATATATCATATATATCATATATGATGTATAGCAT GATATATATGCTATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATGTGATATATATGATATATGTGATATATATCATATGT GATATATATGATATATATCACATATATATGATATATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ABCC6_chr16_16144565_16228494	16172204	A A	ATAAATGA others(519): Show ATAAATGAGTGGGTGGGATGCATAAATGAGTGGGTGGGATGCATAAATGA GGTGGGATGGATAAATGAGTGGGTGGGATGGATAAATGAGTGGGTGGGAT GGATAAATGAGGGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGAT AAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGT GGGTGGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGGTGGGA TGGATAAATGAGTGGGTGGGATGGATAAATGGGTGGGTGGGATGGATAAA TGGGTGGGATGGATGGATAAATGAGTGGGTGGGATGGCTAAATGAGTGGG TGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGG ATAAATGAGTGGGTGGGATGGCTAAATGGGTGGGTGGGATGGATAAATGG GTGGGTGGGATGGATAAATGGGTGGGTGGGATGGCTAAATGAGTGGGTGG GATGGCTAAATGAGTGGGTGGGATGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02895.hp2 HG02886.hp1 HG02895.hp2	a0002 a0029 a0002 a0029	a0002c0003 a0029c0058 a0002c0003 a0029c0058	a0002c0003t0001 a0029c0058t0001 a0002c0003t0001 a0029c0058t0001	a0002c0003t0001g0167 a0029c0058t0001g0164 a0002c0003t0001g0167 a0029c0058t0001g0164	2	357	0.0056	526	c.278 others(545): Show c.2787+1079_2787+1080insGCCATCCCACCCACTCATTTAGCCAT CCCACCCACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCA CCCATTTATCCATCCCACCCACCCATTTAGCCATCCCACCCACTCATTTA TCCATCCCACCCACCCATTTAGCCATCCCACCCACCCATTTATCCATCCC ACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCATCCCACCC ATTTATCCATCCCACCCACCCATTTATCCATCCCACCCACTCATTTATCC ATCCCACCCACTCATTTAGCCATCCCACCCACTCATTTATCCATCCCACC CACTCATTTAGCCATCCCACCCACCCATTTATCCATCCCACCCACTCATT TATCCATCCCACCCACTCATTTATCCATCCATCCCACCCCCTCATTTATC CATCCCACCCACTCATTTATCCATCCCACCCACTCATTTATCCATCCCAC CTCATTTATGCATCCCACCCACTCATTTATGCATCCCACCCACTCATTTA	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ADPRHL1_chr13_113394611_113458488	113412914	A A	ACCCCGCA others(519): Show ACCCCGCAGAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCG GTTCACCCACCGCCAACAGTACCCCACAGAACTCGGTTCACCCACCGCCA ACAGCGCCCCGCAGAACTCGGTTCACCCACCGCCAACAGCACCCCGCGGA GGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCA CCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCC CGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTC ACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAG CGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTC GGTTCACCCACCGCCAACAGTGCCCCGCAGAGCTCGGTTCACCCACCGCC AACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAG AGCTCGGTTCACCCACCGCCAACAGCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	262	0.0038	526	c.106 others(545): Show c.1062-4695_1062-4694insCGCTGTTGGCGGTGGGTGAACCGAGC TCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGT TGGCGGTGGGTGAACCGAGCTCTGCGGGGCACTGTTGGCGGTGGGTGAAC CGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGC GCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGG TGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGC GGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCG GTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGC CTCCGCGGGGTGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTG TTGGCGGTGGGTGAACCGAGTTCTGTGGGGTACTGTTGGCGGTGGGTGAA CCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGCGGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412948	T T	TGCCCCGC others(519): Show TGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTC GGTTCACCCACCGCCAACAGCGCCCCGCAGAACTCGGTTCACCCACCGCC AACAGCACCCCGCGGAGGCTCGGTTCACCCACCGCCAACAGCGCCCCGCA GAACTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCC ACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCC CCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTT CACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACA GCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCT CGGTTCACCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGC CAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGCGCCCCGCA GAGCTCGGTTCACCCACCGCCAACAGC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02293.hp1 HG01099.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0201 a0001c0001t0001g0157 a0001c0001t0001g0201	2	262	0.0076	526	c.106 others(545): Show c.1062-4729_1062-4728insGCTGTTGGCGGTGGGTGAACCGAGCT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTT GGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACC GAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCG CTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGT GAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCG GGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGG TGGGTGAACCGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTT CTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCCTCCGCGGGGTGCTGT TGGCGGTGGGTGAACCGAGTTCTGCGGGGCGCTGTTGGCGGTGGGTGAAC CGAGTTCTGTGGGGTACTGTTGGCGGTGGGTGAACCGAGCTCTGCGGGGC	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(519): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATACACGTATATACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TACGTATACGTGTACACACACACACGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0049 a0001c0001t0104g0049	1	169	0.0059	526	c.48- others(543): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581330	A A	ACGTATAC others(519): Show ACGTATACGTATACACACATATACGTATACGTATACACACATATACGTAT ACGTATACACACATATACGTATACGTATACACACATATACGTATACGTAT ACACACATATACGTATACGTATACACACATATACGTATACGTATACACAC ATATACGTATACGTATACACACATATACGTATACGTATACACACATATAC GTATACGTATACACACATATACGTATACGTATACACACATATACGTATAC GTATACACACATATACGTATACGTATACACACATATACGTATACGTATAC ACACATATACGTATACGTATACGTGTACACACATATACACGTATATACGT ATACGTGTACACACATATATATACACGTATATATACGTATACGTGTACAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0119 a0001c0001t0098g0119	1	169	0.0059	526	c.48- others(543): Show c.48-70669_48-70668insCGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACGTATACGTATA CACACATATACGTATACGTATACACACATATACGTATACGTATACACACA TATACGTATACGTATACACACATATACGTATACGTATACACACATATACG TATACGTATACACACATATACGTATACGTATACACACATATACGTATACG TATACACACATATACGTATACGTATACACACATATACGTATACGTATACA CACATATACGTATACGTATACACACATATACGTATACGTATACGTGTACA CACATATACACGTATATACGTATACGTGTACACACATATATATACACGTA TATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACG	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AFF2_chrX_148495617_149005663	148581415	T T	TACACGTA others(519): Show TACACGTATATACGTATACGTGTACACACATATACACGTATATACGTATA CGTGTACACACATATATATACACGTATATATACGTATACGTGTACACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACACGTATATACGTATACG TGTACACACACATACACGTATATACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTCTACGTGTACACACATATACACG TATACGTCTACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0091 a0001c0001t0024g0091	1	169	0.0059	526	c.48- others(543): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATACACGTATATACGTATACGTGTACACACATATATATACACGTATATAT ACGTATACGTGTACACACACACACGTATATATACGTATACGTGTACACAC ACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATAC GTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACACGTATATACGTATACGTGTACACACACATACACGTATATACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTCTAC GTGTACACACATATACACGTATACGTCTACGTGTACACACATATACAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANKLE2_chr12_132720503_132766832	132759116	C C	CGCTGCGG others(519): Show CGCTGCGGAGTGGCACCCCGGGGCACCCATGTGGCAGAGTGGATCGCTGC GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCACAGCGTGG CACCCCGGGGCACCCACGTGGCAGAGAGGATCGCGCGGACTGGCACCCCG GGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCCCGGGGCAC CCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGT GGCAGAGTGGATCGCTGCGGAGTGGCATCCCGGGGCACCCACGTGGCAGA GTGGATTGCTGCGGAGTGGCACCCCAGGGCACCCACATGGCAGAGTGGAT CGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGC GGAGTGGCATCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTG GCATCCTGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTGGCACCC CAGGGCACCCACATGGCAGAGTGGATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0005 a0009c0013t0005	a0009c0013t0005g0013 a0009c0013t0005g0014 a0009c0013t0005g0013 a0009c0013t0005g0014	2	350	0.0057	526	c.181 others(543): Show c.181+2501_181+2502insAATCCACTCTGCCATGTGGGTGCCCTGG GGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCAGGATGCC ACTCCGCAGCGATCCACTCTGCCACGTGGGTGCCCCGGGATGCCACTCCG CAGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCGCAGCGA TCCACTCTGCCATGTGGGTGCCCTGGGGTGCCACTCCGCAGCAATCCACT CTGCCACGTGGGTGCCCCGGGATGCCACTCCGCAGCGATCCACTCTGCCA CGTGGGTGCCCCGGGGTGCCACTCCGCAGCGATCCACTCTGCCACGTGGG TGCCCCGGGGTGCCACTCCGCAGCGATCCTCTCTGCCACGTGGGTGCCCC GGGGTGCCAGTCCGCGCGATCCTCTCTGCCACGTGGGTGCCCCGGGGTGC CACGCTGTGCGATCCACTCTGCCACGTGGGTGCCCCGGGGTGCCACTCCG CAGCGATCCACTCTGCCACATGGGTGCCCCGGGGTGCCACTCCGCAGC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGTAT others(519): Show ATATGTATACTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAGCATATTTTTATATAAAATATC AGTATTTTATGTATACTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAGCATATTTTTATATAA AATATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTATC ATATGCCATGATATACGTATATTATACATCATATATAAAAACATTTTTAT ATAAAATATCAGTATTTTATGTATACTATATGTGCTATATGATATACACG TATCATATGCCATGATATACGTATATTATACATCATATATAAAAGCATAT TTTTATATAAAATATCAGTATTTTATGTATATTATATGTGCTATATGATA TACACGTATCATATGCCATGATATACGTATATTATACATCATATATAAAA ACATTTTTATATAAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	350	0.0029	526	c.181 others(543): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATGTT TTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGTAT ATCATATAGCACATATAATATACATAAAATACTGATATTTTATATAAAAA TATGCTTTTATATATGATGTATAATATACGTATATCATGGCATATGATAC GTGTATATCATATAGCACATATAGTATACATAAAATACTGATATTTTATA TAAAAATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATG ATACGTGTATATCATATAGCACATATAATATACATAAAATACTGATATTT TATATAAAAATATGCTTTTATATATGATGTATAATATACGTATATCATGG CATATGATACGTGTATATCATATAGCACATATAGTATACATAAAATACTG ATATTTTATATAAAAATATGCTTTTATATATGATGTATAATATACGTATA TCATGGCATATGATACGTGTATATCATATAGCACATATAGTATACATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGCATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG AATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GCAGGTAGGTGGGTAGATGAATGGATGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGTAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGATTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0104 a0001c0039t0001g0104	1	320	0.0031	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAATCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTACCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCATCCATTCATCTACCCACCTACCTGCC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATTC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATGCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGGATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG AATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GCAGGTAGGTGGGTAGATGAATGGAGGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGCAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGATTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19064.hp2 NA18981.hp2 NA19064.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0042 a0001c0001 a0016c0042	a0001c0001t0001 a0016c0042t0001 a0001c0001t0001 a0016c0042t0001	a0001c0001t0001g0214 a0016c0042t0001g0215 a0001c0001t0001g0214 a0016c0042t0001g0215	2	320	0.0063	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAATCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTGCCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCCTCCATTCATCTACCCACCTACCTGCC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATTC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATCCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGGATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG AATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GCAGGTAGGTGGGTAGATGAATGGATGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGCAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGATTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(99): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18950.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18973.hp2 NA18982.hp1 NA19000.hp1 NA19001.hp1 NA19005.hp2 NA19006.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp2 NA19060.hp1 NA19067.hp2 NA19079.hp2 NA19086.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0013 others(3): Show a0001 a0002 a0013 a0014 a0019 a0023	a0001c0001 a0001c0006 a0001c0027 others(7): Show a0001c0001 a0001c0006 a0001c0027 a0001c0030 a0001c0038 a0002c0002 a0013c0013 a0014c0012 a0019c0032 a0023c0041	a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0006t0001 a0001c0027t0001 a0001c0030t0001 a0001c0038t0001 a0002c0002t0001 a0013c0013t0001 a0014c0012t0001 a0019c0032t0001 a0023c0041t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0290 a0001c0001t0003g0004 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0006t0001g0012 a0001c0006t0001g0192 a0001c0006t0001g0213 a0001c0006t0001g0226 a0001c0006t0001g0233 a0001c0006t0001g0234 a0001c0006t0001g0235 a0001c0006t0001g0274 a0001c0027t0001g0187 a0001c0030t0001g0249 a0001c0038t0001g0237 a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0037 a0002c0002t0001g0122 a0002c0002t0001g0191 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0223 a0002c0002t0001g0227 a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0292 a0002c0002t0001g0293 a0013c0013t0001g0202 a0013c0013t0001g0291 a0014c0012t0001g0224 a0014c0012t0001g0225 a0019c0032t0001g0219 a0023c0041t0001g0231	102	320	0.3188	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAATCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTGCCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCATCCATTCATCTACCCACCTACCTGCC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATTC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATCCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGGATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG AATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GCAGGTAGGTGGGTAGATGAATGGATGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGTAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGACTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0026 a0001c0014t0001g0279 a0001c0001t0001g0026 a0001c0014t0001g0279	2	320	0.0063	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAGTCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTACCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCATCCATTCATCTACCCACCTACCTGCC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATTC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATCCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGGATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG AATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GCAGGTAGGTGGGTAGATGAATGGATGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGTAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGATTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(166): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0015 a0018 a0020 a0021 a0022	a0001c0001 a0001c0006 a0001c0008 others(23): Show a0001c0001 a0001c0006 a0001c0008 a0001c0014 a0001c0028 a0001c0029 a0001c0037 a0002c0002 a0002c0040 a0004c0003 a0004c0016 a0004c0024 a0005c0005 a0007c0009 a0007c0023 a0008c0015 a0009c0026 a0009c0031 a0010c0020 a0011c0017 a0012c0018 a0015c0021 a0018c0033 a0020c0025 a0021c0034 a0022c0035	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0014t0001 a0001c0028t0001 a0001c0029t0001 a0001c0037t0001 a0002c0002t0001 a0002c0002t0002 a0002c0040t0001 a0004c0003t0001 a0004c0016t0001 a0004c0024t0001 a0005c0005t0001 a0007c0009t0001 a0007c0023t0001 a0008c0015t0001 a0009c0026t0001 a0009c0031t0001 a0010c0020t0001 a0011c0017t0001 a0012c0018t0004 a0015c0021t0001 a0018c0033t0001 a0020c0025t0004 a0021c0034t0004 a0022c0035t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0028 others(161): Show a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0082 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0245 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0006t0001g0116 a0001c0006t0001g0150 a0001c0006t0001g0276 a0001c0006t0002g0299 a0001c0006t0002g0303 a0001c0008t0001g0096 a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 a0001c0008t0001g0101 a0001c0008t0001g0102 a0001c0008t0001g0103 a0001c0008t0001g0105 a0001c0008t0001g0106 a0001c0008t0001g0107 a0001c0008t0001g0284 a0001c0014t0001g0030 a0001c0028t0001g0169 a0001c0029t0001g0162 a0001c0037t0001g0141 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0067 a0002c0002t0001g0088 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0125 a0002c0002t0001g0127 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0135 a0002c0002t0001g0163 a0002c0002t0001g0171 a0002c0002t0001g0182 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0040t0001g0100 a0004c0003t0001g0006 a0004c0003t0001g0058 a0004c0003t0001g0059 a0004c0003t0001g0060 a0004c0003t0001g0061 a0004c0003t0001g0070 a0004c0003t0001g0072 a0004c0003t0001g0074 a0004c0003t0001g0075 a0004c0003t0001g0076 a0004c0003t0001g0077 a0004c0003t0001g0078 a0004c0003t0001g0080 a0004c0003t0001g0085 a0004c0003t0001g0086 a0004c0003t0001g0087 a0004c0003t0001g0090 a0004c0003t0001g0111 a0004c0003t0001g0281 a0004c0003t0001g0282 a0004c0003t0001g0283 a0004c0016t0001g0065 a0004c0016t0001g0073 a0004c0024t0001g0055 a0005c0005t0001g0002 a0005c0005t0001g0005 a0005c0005t0001g0057 a0005c0005t0001g0062 a0005c0005t0001g0063 a0005c0005t0001g0064 a0005c0005t0001g0066 a0005c0005t0001g0068 a0005c0005t0001g0069 a0005c0005t0001g0079 a0005c0005t0001g0081 a0005c0005t0001g0084 a0005c0005t0001g0117 a0007c0009t0001g0053 a0007c0009t0001g0056 a0007c0009t0001g0089 a0007c0009t0001g0280 a0007c0023t0001g0054 a0008c0015t0001g0083 a0008c0015t0001g0158 a0009c0026t0001g0165 a0009c0031t0001g0172 a0010c0020t0001g0024 a0010c0020t0001g0025 a0011c0017t0001g0114 a0011c0017t0001g0140 a0012c0018t0004g0015 a0012c0018t0004g0016 a0015c0021t0001g0112 a0018c0033t0001g0071 a0020c0025t0004g0017 a0021c0034t0004g0014 a0022c0035t0001g0161	169	320	0.5281	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAATCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTACCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCATCCATTCATCTACCCACCTACCTGCC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATTC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATCCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGGATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG AATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GTAGGTAGGTGGGTAGATGAATGGATGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGTAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGATTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG00741.hp1 others(39): Show HG00099.hp1 HG00733.hp2 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 NA18906.hp1 NA18948.hp2 NA18971.hp1 NA19030.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2	a0003 a0006 a0017 a0003 a0006 a0017	a0003c0004 a0003c0010 a0003c0011 others(4): Show a0003c0004 a0003c0010 a0003c0011 a0003c0019 a0003c0036 a0006c0007 a0017c0022	a0003c0004t0001 a0003c0010t0001 a0003c0011t0001 others(4): Show a0003c0004t0001 a0003c0010t0001 a0003c0011t0001 a0003c0019t0001 a0003c0036t0005 a0006c0007t0001 a0017c0022t0001	a0003c0004t0001g0041 a0003c0004t0001g0043 a0003c0004t0001g0253 others(39): Show a0003c0004t0001g0041 a0003c0004t0001g0043 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0273 a0003c0010t0001g0255 a0003c0010t0001g0272 a0003c0010t0001g0275 a0003c0010t0001g0294 a0003c0011t0001g0048 a0003c0011t0001g0049 a0003c0011t0001g0050 a0003c0011t0001g0092 a0003c0019t0001g0051 a0003c0019t0001g0052 a0003c0036t0005g0013 a0006c0007t0001g0038 a0006c0007t0001g0039 a0006c0007t0001g0040 a0006c0007t0001g0042 a0006c0007t0001g0044 a0006c0007t0001g0045 a0006c0007t0001g0046 a0006c0007t0001g0047 a0006c0007t0001g0262 a0006c0007t0001g0263 a0006c0007t0001g0268 a0006c0007t0001g0269 a0006c0007t0001g0295 a0017c0022t0001g0093	42	320	0.1313	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAATCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTACCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCATCCATTCATCTACCCACCTACCTACC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATTC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATCCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ANKMY1_chr2_240474422_240562988	240527763	A A	AGGTAGGT others(519): Show AGGTAGGTGTGTGGGTGGATGGCTGGATGAATGGATGGGTGGGTGGGTGG ATGAATGTTGCATGAGTAGGTTGATGGATGAATGGATGGGTGGGTGGGTG CATGGGTAGGTAGGGGGATAGATGAATGGATGGCTGGATGAATGGATGTG GCATGGGTGGATTGATGGATGACTGGATGGGCGGGTGAGTGGATGAATGG GCAGGTAGGTGGGTAGATGAATGGATGGTTGGTTGGATGAATGAATGTTA CATGGGTGGATTGATGGATGAATGGATGGGTGGGTGGATGAATGTTGCAT GAGTAGACTGATGAATGGATGGGTGGGTAGGTGAATGGGTAGGTGGGTGG GTAGATGAATGTCTGGCTAGATGAATGGATGTTGCATGGGTGGATTGATG GATGACTGGATGGGTGGGTGGGTGTATGAATGGGCAGGTGGGTGGGTAGA TGAATGGATGGCTGGATGAATGGATACTGCATGCATGAATTGATGGATGA ATGGATGGGTGGGTGGGTGGATGAATG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0091 a0004c0003t0001g0091	1	320	0.0031	526	c.953 others(543): Show c.953+1273_953+1274insCATTCATCCACCCACCCACCCATCCATT CATCCATCAATTCATGCATGCAGTATCCATTCATCCAGCCATCCATTCAT CTACCCACCCACCTGCCCATTCATACACCCACCCACCCATCCAGTCATCC ATCAATCCACCCATGCAACATCCATTCATCTAGCCAGACATTCATCTACC CACCCACCTACCCATTCACCTACCCACCCATCCATTCATCAGTCTACTCA TGCAACATTCATCCACCCACCCATCCATTCATCCATCAATCCACCCATGT AACATTCATTCATCCAACCAACCATCCATTCATCTACCCACCTACCTGCC CATTCATCCACTCACCCGCCCATCCAGTCATCCATCAATCCACCCATGCC ACATCCATTCATCCAGCCATCCATTCATCTATCCCCCTACCTACCCATGC ACCCACCCACCCATCCATTCATCCATCAACCTACTCATGCAACATTCATC CACCCACCCACCCATCCATTCATCCAGCCATCCACCCACACACCTACC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	5/17			chr2	TogoVar
ARHGDIG_chr16_275591_288010	285931	C C	CCCCAACC others(519): Show CCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCCCGGTTCTCCCAACCCCAACCCCAACCCCCCG GTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCGGCGGTTCTCCCAACCCCAAACCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCCCGGTTCTCCCAACCCCG CGGTTCTCCCAACCCCAACCCCAACCCCAACCCCCCGGTTCTCCCAACCC CGCGGTTCTCCCAACCCCAACCCGGCGGTTCTCCCAACCCCAAACCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCCCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	442	0.0023	526	c.31 others(537): Show c.3117_*3118insCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCGCGGTTCTCCCAACCCCAACCCCAACCCCCCGGTTCTCCCAACCCC AACCCCAACCCCCCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCTCCCAACCCCAACCCGGCGGTTCTCCCAACCCCAAACCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC AACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCCCG GTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCC CGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCGGCGGTTCTCCC AACCCCAAACCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACC CCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCAACCCCAACCCCCCGGTTCTCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2922		chr16	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(519): Show GGGGGCTGACCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGT GTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACT TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp2 HG02451.hp1 others(7): Show HG01256.hp1 HG01261.hp2 HG02451.hp1 HG02572.hp1 HG03017.hp1 NA19010.hp2 NA19012.hp1 NA19065.hp2 NA20300.hp2 NA20752.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0009 others(4): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013 a0004c0024 a0005c0015 a0007c0018	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0004 a0001c0009t0008 a0001c0013t0009 a0004c0024t0013 a0005c0015t0003 a0007c0018t0003	a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0008g0008 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0008g0008 a0001c0002t0001g0093 a0001c0002t0004g0043 a0001c0009t0008g0088 a0001c0013t0009g0072 a0004c0024t0013g0101 a0005c0015t0003g0019 a0007c0018t0003g0031	10	102	0.0980	526	c.204 others(547): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGTCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCCGGGAGGCAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGCGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCG GGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CACACTGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGTCAGCC CC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116840551	G G	GGGGGCTG others(519): Show GGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGT GTGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACT TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCGCCACCTCCCT CCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGACCCCCCCACCTGCCTCCCGGACGGAGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGACCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTC CCTCCCAGACGGGGTGGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGCGAGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	102	0.0098	526	c.204 others(547): Show c.2041-19769_2041-19768insTCGCCCGGCCAGCCACCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCACCCCGTCCGG GAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCACCCCGTCTGGG AGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGTCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCTCCGTCCGGGAGGCAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGCGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCG GGAAGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGAGC CACACTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCC CC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
AXIN1_chr16_282440_357723	285931	C C	CCCCAACC others(519): Show CCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCC AACCCCAACCCCAACCCCCCGGTTCTCCCAACCCCAACCCCAACCCCCCG GTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAA CCCCAACCCGGCGGTTCTCCCAACCCCAAACCCGCGGTTCTCCCAACCCC AACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACCCCAAC CCCGCGGTTCTCCCAACCCCAACCCCAACCCCCCGGTTCTCCCAACCCCG CGGTTCTCCCAACCCCAACCCCAACCCCAACCCCCCGGTTCTCCCAACCC CGCGGTTCTCCCAACCCCAACCCGGCGGTTCTCCCAACCCCAAACCCGCG GTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCA ACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACC CCCCGGTTCTCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0048 a0001c0017t0048	a0001c0017t0048g0225 a0001c0017t0048g0225	1	378	0.0027	526	c.21 others(537): Show c.2190_*2191insAGAACCGCGGGGTTGGGAGAACCGGGGGGTTGGG GTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGGGGTT GGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGGT TTGGGGTTGGGAGAACCGCCGGGTTGGGGTTGGGAGAACCGCGGGGTTGG GAGAACCGGGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTT GGGAGAACCGGGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGG TTGGGGTTGGGGTTGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGGTTG GGAGAACCGCGGGTTTGGGGTTGGGAGAACCGCCGGGTTGGGGTTGGGAG AACCGCGGGGTTGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGGGGGG TTGGGGTTGGGGTTGGGAGAACCGGGGGGTTGGGGTTGGGGTTGGGAGAA CCGCGGGGTTGGGAGAACCGCGGGGTTGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1508		chr16	TogoVar
BAIAP2_chr17_81030151_81122434	81054004	C C	CTTGGGGT others(519): Show CTTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCA AGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGG GGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGGGT GGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGACCCCGTGGGGTGG GAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGGGA GCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCTTGGGGTGGGAGC TGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGGGAGCTG CCTCCTGAGCTGGTAGAACTGTGCCCTGGCCCCAAGGGTGGGAGCTGCCT CCTGAGCTGGTAGAACTGTGCCCGGACCCCGTGGGGTGGGAGCTGCCTCC TGAGCTGGTAGAACTGTGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTG AGCTGGTAGAACTGTGCCCGGGCCCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0023 a0001c0001t0034g0023	1	376	0.0027	526	c.130 others(541): Show c.130+261_130+262insTTGGGGTGGGAGCTGCCTCCTGAGCTGGTA GAACTGTGCCCTGGCCCCAAGGGTGGGAGCTGCCTCCTGAGCTGGTAGAA CTGTGCCCGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACT GTGCCCTGGCCCCAAGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTG CCCGGACCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCC CGGGCCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCG GGCCCCTTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGG CCCCGTGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCTGGCC CCAAGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGACCCCG TGGGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCGTG GGGTGGGAGCTGCCTCCTGAGCTGGTAGAACTGTGCCCGGGCCCCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13			chr17	TogoVar
BRD3OS_chr9_134020481_134036587	134025267	C C	CAGCCCCT others(519): Show CAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAGCTCCTCCTCCAACAG CCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCA GCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCCTCCAGCCCCTCCTCC TCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTT CAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCAT CCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCTCCCAGCCCCTCCTCT CCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTCTCCCAGCCCCTCCTC CCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTCGCCGCAGACCCTCAC CATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGC CCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCCTTCCTCCTTCAGCCC TTCCTCCTTCAGCCCCTCCTCCTCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	526	c.-10 others(537): Show c.-1056_-1055insAGCCCCTCCTCCTCTCCCAGCCCCTCCTCCCCAG CTCCTCCTCCAACAGCCCCTCCTCCTCCTCGCGCAGACCCTCACCATCCA GCCCCTCCTCCTTCAGCCCCTCCTCCAGCCCTTCCTCCTTCAGCCCCTCC TCCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTC CAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAGCCCCTCCTCCTCCTCCA GCCCCTCCTCCTCATCCAGCCCCTCCTCCTCATCCAGCCCTTTCTCCTCT CCCAGCCCCTCCTCTCCCAGCTCCTCCTCCTCCTCCAGCCCCTCCTCCTC TCCCAGCCCCTCCTCCCCAGCTCCTCCTCCTCCAGCCCCTCCTCCTCCTC GCCGCAGACCCTCACCATCCAGCCCCTCCTCCTTCAGCCCCTCCTCCAGC CCTTCCTCCTTCAGCCCCTCCTCCTCCTCCAGCCCCTCCTCCTCCAGCCC TTCCTCCTTCAGCCCTTCCTCCTTCAGCCCCTCCTCCTCCAG	BRD3OS	ENSG00000235106.10	transcript	ENST00000603928.3	protein_coding		213		chr9	TogoVar
CACNB4_chr2_151827771_152104044	151875697	C C	CGGGGCGG others(519): Show CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCTCGCCTGGCGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCACCTCCCTCCCGG ACGGGGCGTCTCGCCTGGCGGGGGGCTGACCCCCCCATCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGCTGACCCCCCACCTCCCTCCCGGACGGGGCGTCTCGCCTGGCGGGGGG CTGACCCCCCCATCTCCCTCCCGGACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG06807.hp1 HG02717.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0142 a0001c0003t0008g0219 a0001c0003t0008g0142 a0001c0003t0008g0219	2	230	0.0087	526	c.521 others(541): Show c.521+728_521+729insCGTCCGGGAGGGAGATGGGGGGGTCAGCCC CCCGCCAGGCGAGACGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGATGGGGGGGTCAGCCCCCCGCCAGGCGAGACGCCCCGTCCG GGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCC CCCGCCAGGCGAGACGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCC TGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC	CACNB4	ENSG00000182389.20	transcript	ENST00000539935.7	protein_coding	5/13			chr2	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(519): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACACACTCACATACAGACACAACC ACACCACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18952.hp2 NA18961.hp1 others(4): Show NA18951.hp1 NA18952.hp2 NA18961.hp1 NA18964.hp2 NA18969.hp2 NA18975.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0001 a0001c0001t0001g0172 a0001c0001t0001g0173	7	460	0.0152	526	c.193 others(543): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACATACACAGTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
DCDC2C_chr2_3698575_3853008	3725406	A A	AGAGGGAG others(519): Show AGAGGGAGGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGG AGGAGGCTGCCAGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGAT GGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAGTGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCAGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGA TGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCA GAGAGGGAGGAGGCTGCCAGGTGGATCCCGGAGGAAGACGAGCAGAGAGG GAGGAGGCTGCCCGGTGGATCCCGGAGGGAGACGAGCAGAGAGGGAGGAG GCTGCCCGGTGGATCCTGGAGGGAGACCGCCAGAGTGACGAGGATGGCCA GGTGGATCCCGGAGGGAGATGAGCAGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0068 a0001c0002t0014g0068	1	324	0.0031	526	c.340 others(543): Show c.340-1594_340-1593insGGAGGAGGCTGCCCGGTGGATCCCAGAG GAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCTGGAGGGAGAC CGCCAGAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGG GAGTGAGGAGGCTGCCAGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGA GGAGGCTGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGC TGCCCGGTGGATCCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAG GTGGATCCCAGAGGAAGATGAGCAGAGAGGGAGGAGGCTGCCAGGTGGAT CCCAGAGGAAGACGAGCAGAGAGGGAGGAGGCTGCCAGGTGGATCCCGGA GGAAGACGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCCGGAGGGAGA CGAGCAGAGAGGGAGGAGGCTGCCCGGTGGATCCTGGAGGGAGACCGCCA GAGTGACGAGGATGGCCAGGTGGATCCCGGAGGGAGATGAGCAGGGAG	DCDC2C	ENSG00000214866.9	transcript	ENST00000399143.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCLK2_chr4_150073445_150262438	150250998	A A	ACCCCAAA others(519): Show ACCCCAAATCCCCCACACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCAAATCCCCCACACCCCCCACATCCCCCATACCCCTCACATCC CCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCAAA TCCCCCACACCCCCCACATCTCCCCACACCCCCATCCCCCACACCTCCCA CATCCCCGCACACCCCCACACATCCCCCACACCCCCCAAATCCCCCACAC CCCCCACATCCCCCACACCCCCCACATCCCCCACACCTCCCACATCCCCC ACACCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATC CCCCACACCCCCATCCCCCACACCCCCACACATCCCCCACACCCCCCACA TCCCCCACACCCCACACATCCCCCACACCCCCCACATCCCCCACACCCCC CACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACAC CCCCAACATCCCCCACACCCCCCACAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0038 a0003c0004t0013g0038	1	116	0.0086	526	c.207 others(545): Show c.2073+1318_2073+1319insAAATCCCCCACACACCCCCACACACC CCCCACACCACACATCCCCCACACCCCAAATCCCCCACACCCCCCACATC CCCCATACCCCTCACATCCCCCACACCCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCCAAATCCCCCACACCCCCCACATCTCCCCACACCC CCATCCCCCACACCTCCCACATCCCCGCACACCCCCACACATCCCCCACA CCCCCCAAATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCC CACACCTCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACAT CCCCCACACCCCCCACATCCCCCACACCCCCATCCCCCACACCCCCACAC ATCCCCCACACCCCCCACATCCCCCACACCCCACACATCCCCCACACCCC CCACATCCCCCACACCCCCCACATCCCCCACACCCCCCACATCCCCCACA CCCCCCACATCCCCCACACCCCCAACATCCCCCACACCCCCCACATCCCC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397669	T T	TGTGGGGG others(519): Show TGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGG GGGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	367	0.0027	526	c.-42 others(537): Show c.-4295_-4294insGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4215		chr16	TogoVar
DIP2C_chr10_269201_694668	478166	G G	GGGGAGAA others(519): Show GGGGAGAAGAGGGGAGGGGAGAAAAGGGGAGGGGAGGGGAGAAGAGGGGA GGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGA GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGAGAAGAAGGGAGGAGAGGGGAGAAGAAGGGAGGAGAGGGGAGAAGAG GGGAGGGGAGAAGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAG AAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAG GGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAA GGAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAA GAAGGGAGGGGAGGGGAGAAGAGGGGAGGGAGAAGAAGGGAGGGGAGGGG AGAAGAGGGGAGGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	88	0.0114	526	c.158 others(543): Show c.158-5618_158-5617insTTCTTCTCCCCTCCCCTCCCCTCTTCTC CCCTCCCCTCCCTTCTTCTCCCTCCCCTCTTCTCCCCTCCCCTCCCTTCT TCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTCCT TCTTCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCC TCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTC TCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCC TCTTCTCCCCTCTCCTCCCTTCTTCTCCCCTCTCCTCCCTTCTTCTCCCT CCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCT CCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCT CCCCTCTTCTCCCCTCCCCTCCCCTTTTCTCCCCTCCCCTCTTCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DPEP1_chr16_89608642_89643433	89634861	T T	TCCTTTCC others(519): Show TCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCCTTTCCCTTCCTTCTCCTTTCCCTTTCCTTCCCTTTCCCC TCCTTCTCCTTTCCTTCCTTCCCTTTCCCCTCCTTCTCCTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCT TCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCT TTCCCTTCCTTCCCTTTCCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	250	0.0040	526	c.105 others(543): Show c.105-1032_105-1031insTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCCTTTCCCTTCCTTCTCCTTTCCCTTTCCTTCCCT TTCCCCTCCTTCTCCTTTCCTTCCTTCCCTTTCCCCTCCTTCTCCTTCCC TTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTCCT TCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC CCTTTCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EBF2_chr8_25836725_26050413	26005369	T T	TATATAAT others(519): Show TATATAATATATATAATATATAATTATATAAAATATATAATATATTATAT ATTATATATATTATATAAATATATAATATATTATATATAATTATATAAAT ATATAATATATTACATATAATTATATATTATATATTATATATAATATATA ATTATATGTAATATATTATATATATTATATATTATATATATATTATATAT ATAATATATTTTATATATTAAATTATATATAATATATATTATATATATAA TTTATATATATAAAATATATTATATATTATATAAATATATATATTTTATA TATATAAAATATATATTTTATAATATATAATATAGAAATATATATTATAT AATATATAATTATATATAATTATATATTATATAATATATATTTCTATATT ATATATTTATAATGTATAATATATAAATATATTATAAATATATATTATAT ACTATATAATGCATTATAAATATATTATATTTATATATTATAAATATATT ACATATTTATATATTATATATATAATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01070.hp2 others(18): Show HG00323.hp1 HG00639.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG02004.hp1 HG02257.hp2 HG02451.hp2 HG02622.hp2 HG02896.hp2 HG03139.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0002t0013 a0001c0002t0033 a0001c0004t0003 a0001c0005t0001 a0002c0003t0005	a0001c0001t0001g0048 a0001c0001t0001g0148 a0001c0001t0002g0016 others(18): Show a0001c0001t0001g0048 a0001c0001t0001g0148 a0001c0001t0002g0016 a0001c0001t0003g0180 a0001c0001t0003g0185 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0006g0163 a0001c0001t0006g0181 a0001c0001t0006g0196 a0001c0001t0006g0214 a0001c0001t0027g0103 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0013g0015 a0001c0002t0013g0099 a0001c0002t0033g0158 a0001c0004t0003g0217 a0001c0005t0001g0146 a0002c0003t0005g0100 a0002c0003t0005g0102	21	220	0.0955	526	c.551 others(545): Show c.551+27715_551+27716insTATTATATATATAATATATAAATATG TAATATATTTATAATATATAAATATAATATATTTATAATGCATTATATAG TATATAATATATATTTATAATATATTTATATATTATACATTATAAATATA TAATATAGAAATATATATTATATAATATATAATTATATATAATTATATAT TATATAATATATATTTCTATATTATATATTATAAAATATATATTTTATAT ATATAAAATATATATATTTATATAATATATAATATATTTTATATATATAA ATTATATATATAATATATATTATATATAATTTAATATATAAAATATATTA TATATATAATATATATATAATATATAATATATATAATATATTACATATAA TTATATATTATATATAATATATAATATATAATTATATGTAATATATTATA TATTTATATAATTATATATAATATATTATATATTTATATAATATATATAA TATATAATATATTATATATTTTATATAATTATATATTATATATATTATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
FBXO47_chr17_38931432_38972403	38946594	A A	ATAAATAT others(519): Show ATAAATATATATGAATATATAAATATATATAAATATATAAATATATAAAT AAAAATATATAAAAATATATACATATATAAATATAAATATATAATATATA AATATATAAATATATAAATATAAATATATAAAAATATATAAATATATAAA AATATATAAATATATAAAAATATATAAATATATATAAATATATATAAATA TATAAATATATAAATATATATAAATATATAAATATATAAAAATATATAAA TATATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAA TATATATACATAAATATATAAATATATAAATATATAAATATATAAATACA TAATATATATAAATATAAAATATATATAATATATAAAATATATTAAAAAT ATAAAAATATATATAAAAAATATATAAATATATAAAAATATATAAAAAAT ATATACACATATAAATATATATAAAAATATATAAATATATATAAAAATAT ATAAATATATATTATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19091.hp2 HG00735.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0173 a0001c0001t0002g0149 a0001c0001t0002g0173	2	344	0.0058	526	c.617 others(543): Show c.617-1459_617-1458insATATATTTATATATAATATATATTTATA TATTTTTATATATATTTATATATTTTTATATATATTTATATGTGTATATA TTTTTTATATATTTTTATATATTTATATATTTTTTATATATATTTTTATA TTTTTAATATATTTTATATATTATATATATTTTATATTTATATATATTAT GTATTTATATATTTATATATTTATATATTTATATATTTATGTATATATAT TTATATATTTATATATTTATGTATTTATATATTTTTATATATTTATATAT TTATATATTTTTATATATTTATATATTTATATATATTTATATATTTATAT ATTTATATATATTTATATATATTTATATATTTTTATATATTTATATATTT TTATATATTTATATATTTTTATATATTTATATTTATATATTTATATATTT ATATATTATATATTTATATTTATATATGTATATATTTTTATATATTTTTA TTTATATATTTATATATTTATATATATTTATATATTCATATATATTTA	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FNDC10_chr1_1593012_1605135	1595377	A A	AGCAGAAC others(519): Show AGCAGAACAGGGAGAGACAGAGAGACAGAGAGAGAGAGAGACAGAGAGAG GCAGACAGAGACAGAGAGACAGACAGACAGACACAGAGAGAGCAGAACGG GGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGCAGAACAGGGAGAA ACAGAGAGACAGAGAGCGAGAGAGACAGAGACAGAGAGAGGCAGACAGAG ACAGAGAGAGAGACAGACAGACAGACACAGAGAGAGCAGAACAGGGAGAG ACAGAGACAGAGAGAAACAGAGACAGAGACAGAGACAGAGAGGCAGACAG AGAGAGAGACAGACACAGAGAGAGCAGAACAGGGAGAGACAGAGAGACAG AGAGAGAGAGTGAGACAGAGACAGAGACAGAGAGGCAGACAGAGAGAGAC AGACAGACAGACAGACACAGAGAGAGCAGAACAGGGACAGACAGAGAGAG AGAGAGAGAGACAGAGACAGAGACAGAGACAGAGAGGCAGAGAGAGAGAG AGACAGACACAGAGAGAGCAGAACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 NA20300.hp1 HG02965.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0000 a0001c0001t0015g0000	2	406	0.0049	526	c.39 others(537): Show c.3957_*3958insCCTGTTCTGCTCTCTCTGTGTCTGTCTCTCTCTC TCTCTGCCTCTCTGTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCTCTC TGTCTGTCCCTGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTGTCTCTC TCTGTCTGCCTCTCTGTCTCTGTCTCTGTCTCACTCTCTCTCTCTGTCTC TCTGTCTCTCCCTGTTCTGCTCTCTCTGTGTCTGTCTCTCTCTCTGTCTG CCTCTCTGTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTCCC TGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTCTCTCTCTGTCTCTGTC TGCCTCTCTCTGTCTCTGTCTCTCTCGCTCTCTGTCTCTCTGTTTCTCCC TGTTCTGCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCCCCGTTCT GCTCTCTCTGTGTCTGTCTGTCTGTCTCTCTGTCTCTGTCTGCCTCTCTC TGTCTCTCTCTCTCTCTGTCTCTCTGTCTCTCCCTGTTCTGC	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2634		chr1	TogoVar
GALNT17_chr7_71127144_71718599	71680043	C C	CCCTCCCG others(519): Show CCCTCCCGCTCTCTCTTTCTCCCTCCTTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTGTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCT CCCTCCCTCTCTCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTC TCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCTTCCTCC CTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCT CTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCC CTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCT CCCTTCCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCC CTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCTC CCTCTCTTCTCCCTCCCTCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	76	0.0132	526	c.150 others(545): Show c.1500+2743_1500+2744insGCTCTCTCTTTCTCCCTCCTTCTCTC CCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTGTCTCCCTTCCTCCC TCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCTTCCTCCCTCCCGCTCTCT CTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCT CCCTCTCTCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTC TTCCTCCCTCCCTCTCTCCCTTCCCCTCCCGCTCTCTCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTC TCCTTCCTCCCTCCCTCCCTCTCTTCTCCCTCCCTCTCTCCCTTCCTCCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(519): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGTCCGT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	204	0.0049	526	c.117 others(545): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGTCCGTGTTCGTG GATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar

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Search Results (Total: 10000 hits)