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
UNC5B_chr10_71207570_71307864	71296783	A A	ACTGGCGG others(93): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC TCTGGCAGAGGTGAGGGAAGTCGGGGCCACATATTCCAGCTGCACACCAC G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0054 a0002c0005t0054	a0002c0005t0054g0166 a0002c0005t0054g0166	1	368	0.0027	100	c.249 others(115): Show c.2490+90_2490+91insTCTGGCAGAGGTGAGGGAAGTCGGGGCCAC ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296833	G G	GCTGGCGG others(93): Show GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02970.hp1 HG01884.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0007 a0001c0006t0007 a0001c0003t0007 a0001c0006t0007	a0001c0003t0007g0095 a0001c0006t0007g0337 a0001c0003t0007g0095 a0001c0006t0007g0337	2	368	0.0054	100	c.249 others(117): Show c.2490+140_2490+141insACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296883	G G	GCTGGCGG others(93): Show GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0056 a0001c0015t0056	a0001c0015t0056g0099 a0001c0015t0056g0099	1	368	0.0027	100	c.249 others(117): Show c.2490+190_2490+191insACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(93): Show CATATATATATACGTATATATATATATATATGTGTATATATATATATACG TATATATATATGTGTATATATACGTATATATATGTATATATATATGTGTA T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	2	452	0.0044	100	c.802 others(117): Show c.802-2913_802-2912insATATATGTGTATATATATATATACGTAT ATATATATGTGTATATATACGTATATATATGTATATATATATGTGTATAT ATATATATACGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UPK3A_chr22_45279949_45300874	45282187	A A	AAGAAAGA others(93): Show AAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAAGAAAGAGAGGAAGGA AGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGAAGGAAGG T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	444	0.0023	100	c.-28 others(111): Show c.-2827_-2826insAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAA GAAAGAGAGGAAGGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAA AGGAAGGAAGGAAGGT	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2761		chr22	TogoVar
UPP2_chr2_158096876_158141154	158104994	A A	AGGGAAGG others(93): Show AGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0053 a0002c0002t0011g0053	1	342	0.0029	100	c.63- others(115): Show c.63-1101_63-1100insAGGGAAGGGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAV1_chr19_6767708_6862361	6794047	T T	TACCAATA others(93): Show TACCAATAAATCAACGGTAAATGATTTACCAATAAATCAACGGTAAATGA TTTACCAATAAATCAACGGTAAATGATTTACCAATAAATCAACGGTAAAT G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG03927.hp2 others(4): Show HG02886.hp1 HG03098.hp1 HG03927.hp2 NA19068.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0003c0008t0001 a0001c0001t0001 a0001c0002t0001 a0003c0008t0001	a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0182 a0001c0002t0001g0009 a0001c0002t0001g0080 a0003c0008t0001g0018	7	306	0.0229	100	c.204 others(119): Show c.204+21037_204+21038insCCAATAAATCAACGGTAAATGATTTA CCAATAAATCAACGGTAAATGATTTACCAATAAATCAACGGTAAATGATT TACCAATAAATCAACGGTAAATGA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(93): Show CCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTT T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0190 a0001c0010t0001g0190	1	306	0.0033	100	c.205 others(117): Show c.205-6028_205-6027insCCTTCCTTCCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCX3B_chrX_8459830_8471510	8466755	G G	GGGGAGGG others(93): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA19067.hp1 NA19078.hp2 NA18944.hp1 NA19067.hp1 NA19078.hp2	a0003 a0005 a0072 a0003 a0005 a0072	a0003c0003 a0005c0010 a0072c0084 a0003c0003 a0005c0010 a0072c0084	a0003c0003t0003 a0005c0010t0003 a0072c0084t0003 a0003c0003t0003 a0005c0010t0003 a0072c0084t0003	a0003c0003t0003g0004 a0005c0010t0003g0004 a0072c0084t0003g0011 a0003c0003t0003g0004 a0005c0010t0003g0004 a0072c0084t0003g0011	3	271	0.0111	100	c.37 others(109): Show c.372_*373insGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		246		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467096	G G	GGGGAGGG others(93): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0006 a0015c0015t0006	a0015c0015t0006g0009 a0015c0015t0006g0009	1	271	0.0037	100	c.71 others(109): Show c.713_*714insGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		587		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(93): Show TGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03516.hp1 HG01891.hp2 HG03516.hp1	a0005 a0061 a0005 a0061	a0005c0005 a0061c0073 a0005c0005 a0061c0073	a0005c0005t0007 a0061c0073t0007 a0005c0005t0007 a0061c0073t0007	a0005c0005t0007g0016 a0061c0073t0007g0008 a0005c0005t0007g0016 a0061c0073t0007g0008	2	271	0.0074	100	c.79 others(109): Show c.797_*798insGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
VCX_chrX_7838171_7849143	7844225	A A	AGGAAGAG others(93): Show AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	100	c.20 others(109): Show c.209_*210insGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		83		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(93): Show AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	408	0.0025	100	c.53+ others(115): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	510447	T T	TCCCATAT others(93): Show TCCCATATGAAATCCTGGCTCACCCCTCACTAGTCACATATCAAATCCTG GCTTGTCCCCTTGCTAGTCACGTATCAAATCCTGGCCGACCCCTTACTAG A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG03139.hp1 HG02572.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0102 a0001c0001t0101 a0001c0001t0102	a0001c0001t0101g0200 a0001c0001t0102g0220 a0001c0001t0101g0200 a0001c0001t0102g0220	2	232	0.0086	100	c.86 others(111): Show c.8680_*8681insTCTAGTAAGGGGTCGGCCAGGATTTGATACGTGA CTAGCAAGGGGACAAGCCAGGATTTGATATGTGACTAGTGAGGGGTGAGC CAGGATTTCATATGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8680		chr17	TogoVar
VPS53_chr17_503668_719839	619617	T T	TGTACCAC others(93): Show TGTACCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG CGTACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCG C	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18950.hp1 NA18961.hp1 others(1): Show HG00423.hp2 NA18950.hp1 NA18961.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0094 a0001c0001t0015 a0001c0001t0094	a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 others(1): Show a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0094g0129	4	232	0.0172	100	c.111 others(119): Show c.1116+3915_1116+3916insGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGCGTGGTGGTACGCGCCTGTAGTCCCAGCTACCCGGGA AATATTAGCGGGGTGTGGTGGTAC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619719	T T	TACCACCA others(93): Show TACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATG CACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTG C	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18944.hp1 NA18959.hp2 others(6): Show HG02135.hp1 NA18944.hp1 NA18959.hp2 NA18962.hp2 NA18979.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 others(3): Show a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0043 a0001c0002t0048 a0001c0002t0058	a0001c0002t0005g0061 a0001c0002t0007g0058 a0001c0002t0007g0062 others(6): Show a0001c0002t0005g0061 a0001c0002t0007g0058 a0001c0002t0007g0062 a0001c0002t0007g0063 a0001c0002t0007g0081 a0001c0002t0010g0057 a0001c0002t0043g0064 a0001c0002t0048g0089 a0001c0002t0058g0052	9	232	0.0388	100	c.111 others(119): Show c.1116+3813_1116+3814insGCACGCCTGTAGTCCCAGCTACCCGG GAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCAGCTACCCGG GAAATATTAGCGGGGCGTGGTGGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619728	A A	ACCCCGCT others(93): Show ACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATGCACCACCAC GCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTGCACCACCAC G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(40): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00621.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01978.hp1 HG01981.hp2 HG02738.hp1 HG02886.hp1 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG04204.hp2 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18960.hp1 NA18967.hp1 NA18973.hp1 NA18977.hp2 NA19070.hp1 NA19079.hp1 NA19084.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0001c0016 others(1): Show a0001c0002 a0001c0006 a0001c0016 a0002c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0022 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0055 a0001c0002t0066 a0001c0002t0067 a0001c0002t0072 a0001c0002t0075 a0001c0002t0076 a0001c0002t0079 a0001c0002t0082 a0001c0002t0083 a0001c0006t0001 a0001c0006t0021 a0001c0006t0039 a0001c0006t0040 a0001c0006t0041 a0001c0006t0053 a0001c0006t0057 a0001c0006t0068 a0001c0006t0074 a0001c0016t0052 a0002c0003t0073	a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 others(40): Show a0001c0002t0001g0045 a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0090 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0005g0065 a0001c0002t0010g0087 a0001c0002t0013g0078 a0001c0002t0013g0083 a0001c0002t0014g0055 a0001c0002t0014g0074 a0001c0002t0014g0077 a0001c0002t0022g0085 a0001c0002t0024g0073 a0001c0002t0024g0088 a0001c0002t0025g0075 a0001c0002t0026g0059 a0001c0002t0026g0060 a0001c0002t0055g0084 a0001c0002t0066g0070 a0001c0002t0067g0076 a0001c0002t0072g0071 a0001c0002t0075g0051 a0001c0002t0076g0050 a0001c0002t0079g0086 a0001c0002t0082g0069 a0001c0002t0083g0067 a0001c0006t0001g0113 a0001c0006t0021g0100 a0001c0006t0021g0101 a0001c0006t0039g0003 a0001c0006t0040g0002 a0001c0006t0041g0001 a0001c0006t0053g0102 a0001c0006t0057g0103 a0001c0006t0068g0098 a0001c0006t0074g0097 a0001c0016t0052g0099 a0002c0003t0073g0068	43	232	0.1853	100	c.111 others(119): Show c.1116+3804_1116+3805insCGTGGTGGTGCACGCCTGTAGTCCCA GCTACCCGGGAAATATTAGCGGGGCGTGGTGGTGCATGCCTGTAGTCCCA GCTACCCGGGAAATATTAGCGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619769	C C	CACCACCA others(93): Show CACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCGTG CACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCATG T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0072 a0001c0002t0003g0072	1	232	0.0043	100	c.111 others(119): Show c.1116+3763_1116+3764insACATGCCTGTAGTCCCAGCTACCCGG GAAATATTAGCGGGGCGTGGTGGTGCACGCCTGTAGTCCCAGCTACCCGG GAAATATTAGCGGGGCGTGGTGGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619916	G G	GTGCACCA others(93): Show GTGCACCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC GTGCGCCACCACGCCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGC A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0115 a0001c0001t0115	a0001c0001t0115g0136 a0001c0001t0115g0136	1	232	0.0043	100	c.111 others(119): Show c.1116+3616_1116+3617insTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGCGCACGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGCGTGGTGGTGCA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS9D1_chr16_89702134_89725898	89717941	C C	CTCCCACG others(93): Show CTCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGTGGC TCCCCCGACCTCTGTGCTCCCACGTCCAGTGGGTCCCCCTGACCTCTGTG A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02486.hp1 others(5): Show HG01243.hp2 HG01884.hp1 HG02486.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp2 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0113 others(3): Show a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0219 a0001c0002t0001g0220	8	430	0.0186	100	c.175 others(116): Show c.175+986_175+1085dupTCACAGAGGTCAGGGGGACCCACTGGACG TGGGAGCACAGAGGTCGGGGGAGCCACTGGACGTGGGAGCACAGAGGTCG GGGGAGCCACTGGACGTGGGA	VPS9D1	ENSG00000075399.14	transcript	ENST00000389386.8	protein_coding	2/14			chr16	TogoVar
VSIG1_chrX_108040065_108084184	108047807	T T	TACATATA others(93): Show TACATATATATATACATATATATATATATATACATATATATATACATATA TATACATATATATATACATATATATACACATATATATATACATATATATA C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	281	0.0036	100	c.49+ others(115): Show c.49+2651_49+2652insTATATATACATATATATATACATATATATA CATATATATATACATATATATACACATATATATATACATATATATACACA TATATATATACATATATATA	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
WDR70_chr5_37374318_37758435	37564562	A A	AGAGGGAG others(93): Show AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGACGGTGGGGAGAGGGAGACCGTGGGGAGAGGGAGAGGGAGA G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02293.hp2 HG03704.hp1 others(1): Show HG01074.hp1 HG02293.hp2 HG03704.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0175 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0087 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0004g0005	4	242	0.0165	100	c.918 others(119): Show c.918-40457_918-40456insGAGGGAGAGGGAGACGGTGGGGAGAG GGAGACCGTGGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAG	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR90_chr16_644365_672830	665214	A A	ACCTCAGT others(93): Show ACCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA GCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACTCCTGTCTTTCA G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0025 a0025	a0025c0074 a0025c0074	a0025c0074t0004 a0025c0074t0004	a0025c0074t0004g0075 a0025c0074t0004g0075	1	376	0.0027	100	c.431 others(117): Show c.4312-404_4312-305dupCAGCCTGCTAGGGACGCACGGCCACACT CCTGTCTTTCAGCCTCAGTCTGCAGCCTGCTAGGGACGCACGGCCACACT CCTGTCTTTCAGCCTCAGTCTG	WDR90	ENSG00000161996.19	transcript	ENST00000293879.9	protein_coding	34/40		INFO_REALIGN_3_PRIME	chr16	TogoVar
WSCD1_chr17_6065379_6129427	6094808	A A	AAGGGAGG others(93): Show AAGGGAGGAAGGAATGACTTATGGAGAACTGGCAGAAGCAAGAGAAGGAA GGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGGAGGGAGGGAGG G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0054 a0001c0002t0015g0054	1	430	0.0023	100	c.728 others(115): Show c.728-251_728-250insAAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTTATGG AGAACTGGCAGAAGCAAGAG	WSCD1	ENSG00000179314.16	transcript	ENST00000317744.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
WSCD1_chr17_6065379_6129427	6094838	G G	GGCAGAAG others(93): Show GGCAGAAGCAAGAGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGG GAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTTATGGAGAACT A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02809.hp2 HG01099.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0018 a0001c0001t0001 a0001c0002t0018	a0001c0001t0001g0261 a0001c0002t0018g0214 a0001c0001t0001g0261 a0001c0002t0018g0214	2	430	0.0047	100	c.728 others(115): Show c.728-251_728-250insAAGGAAGGAAGGGAGGGAGGGAGGAAGGAA GGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAATGACTTATGG AGAACTAGCAGAAGCAAGAG	WSCD1	ENSG00000179314.16	transcript	ENST00000317744.10	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZCCHC24_chr10_79377325_79450624	79428391	T T	TATTTCAG others(93): Show TATTTCAGTTTTGCAAGATAAATTTCAGTTTTGCAAGATAAATTTCAGTT TTGCAAGATAAATTTCAGTTTTGCAAGATAAATTTCAGTTTTGCAAGATA A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG02818.hp1 others(3): Show HG00558.hp2 HG00738.hp2 HG02818.hp1 NA18947.hp1 NA18969.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 others(3): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0036 a0001c0001t0108	a0001c0001t0005g0326 a0001c0001t0009g0178 a0001c0001t0013g0061 others(3): Show a0001c0001t0005g0326 a0001c0001t0009g0178 a0001c0001t0013g0061 a0001c0001t0016g0296 a0001c0001t0036g0255 a0001c0001t0108g0042	6	382	0.0157	100	c.447 others(117): Show c.447+4067_447+4166dupTTATCTTGCAAAACTGAAATTTATCTTG CAAAACTGAAATTTATCTTGCAAAACTGAAATTTATCTTGCAAAACTGAA ATTTATCTTGCAAAACTGAAAT	ZCCHC24	ENSG00000165424.7	transcript	ENST00000372336.4	protein_coding	2/3			chr10	TogoVar
ZFPM1_chr16_88448280_88542031	88470506	C C	CAGTGACA others(93): Show CAGTGACAGGTGAGGATGTGGCACGGTGTGGAGGGCCGGGTGGTGACGCT GAGTGACAGGTGAGGATGTGGCACGGTGTGGAGGGCCGGGTGGTGACGCT G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03579.hp1 HG02486.hp2 HG03579.hp1	a0005 a0026 a0005 a0026	a0005c0007 a0026c0070 a0005c0007 a0026c0070	a0005c0007t0009 a0026c0070t0028 a0005c0007t0009 a0026c0070t0028	a0005c0007t0009g0308 a0026c0070t0028g0310 a0005c0007t0009g0308 a0026c0070t0028g0310	2	318	0.0063	100	c.41- others(117): Show c.41-15275_41-15176dupGGTGAGGATGTGGCACGGTGTGGAGGGC CGGGTGGTGACGCTGAGTGACAGGTGAGGATGTGGCACGGTGTGGAGGGC CGGGTGGTGACGCTGAGTGACA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501132	G G	GGGCCCTC others(93): Show GGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG GGGCCCTCCCGCAGGTGCTGGTGATGATAGAGATAGCAGACATGGGTGCG T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	318	0.0031	100	c.268 others(119): Show c.268+11981_268+11982insCCCTCCCGCAGGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCCTCCCGCAGGTGCTGGTGATGATA GAGATAGCAGACATGGGTGCGTGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFR2_chr19_3799024_3874038	3820818	C C	CACACTAG others(93): Show CACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCGGGGGACACAGG GACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACACAGG G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0014 a0002c0002t0001 a0002c0002t0014	a0002c0002t0001g0276 a0002c0002t0014g0011 a0002c0002t0014g0013 a0002c0002t0001g0276 a0002c0002t0014g0011 a0002c0002t0014g0013	3	398	0.0075	100	c.163 others(117): Show c.1631+422_1631+521dupCCCTGTGTCCCCCGACCTCTAGTGTCCC TGTGTCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCCCCGGTGTCCC TGTGTCCCCCGACCTCTAGTGT	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZFR2_chr19_3799024_3874038	3820864	C C	CAGGGACA others(93): Show CAGGGACACTAGAGGTCGGGGGACACAGGGACACTAGAGGTCGGGGGACA CAGGGACACTAGAGGTCGGGGGACACAGGGACACCGGGGGTCGGGGGACA G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0001 a0024c0023t0001	a0024c0023t0001g0160 a0024c0023t0001g0160	1	398	0.0025	100	c.163 others(117): Show c.1631+475_1631+476insCTGTCCCCCGACCCCCGGTGTCCCTGTG TCCCCCGACCTCTAGTGTCCCTGTGTCCCCCGACCTCTAGTGTCCCTGTG TCCCCCGACCTCTAGTGTCCCT	ZFR2	ENSG00000105278.12	transcript	ENST00000262961.9	protein_coding	10/18			chr19	TogoVar
ZHX3_chr20_41173455_41322731	41196482	T T	TTATAAAT others(93): Show TTATAAATATATAATATATAATATATATTTATATAAATATATATTATATA TTATAAATATATATTATATATTATATAAATATTATATATAATATATATTT A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	360	0.0028	100	c.286 others(119): Show c.2860+5574_2860+5575insTAAATATATATTATATATAATATTTA TATAATATATAATATATATTTATAATATATAATATATATTTATATAAATA TATATTATATATTATATATTTATA	ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	3/3			chr20	TogoVar
ZHX3_chr20_41173455_41322731	41196482	T T	TTATAAAT others(93): Show TTATAAATATATTATATATAATATATATTTATATAAATATATATTATATA TTATAAATATATATTATATATTATATAAATATTATATATAATATATATTT A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 HG06807.hp2 HG02976.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0261 a0001c0001t0012g0262 a0001c0001t0012g0263 a0001c0001t0012g0261 a0001c0001t0012g0262 a0001c0001t0012g0263	3	360	0.0083	100	c.286 others(119): Show c.2860+5574_2860+5575insTAAATATATATTATATATAATATTTA TATAATATATAATATATATTTATAATATATAATATATATTTATATAAATA TATATTATATATAATATATTTATA	ZHX3	ENSG00000174306.22	transcript	ENST00000683867.1	protein_coding	3/3			chr20	TogoVar
ZNF276_chr16_89716537_89745925	89717941	C C	CTCCCACG others(93): Show CTCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGTGGC TCCCCCGACCTCTGTGCTCCCACGTCCAGTGGGTCCCCCTGACCTCTGTG A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02486.hp2 others(5): Show HG01243.hp1 HG01884.hp2 HG02486.hp2 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG03130.hp2 NA20129.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0017 a0001c0001 a0010c0017	a0001c0001t0001 a0001c0001t0008 a0010c0017t0008 a0001c0001t0001 a0001c0001t0008 a0010c0017t0008	a0001c0001t0001g0039 a0001c0001t0008g0007 a0001c0001t0008g0232 others(1): Show a0001c0001t0001g0039 a0001c0001t0008g0007 a0001c0001t0008g0232 a0010c0017t0008g0258	8	420	0.0191	100	c.-37 others(111): Show c.-3700_-3699insTCCCACGTCCAGTGGCTCCCCCGACCTCTGTGCT CCCACGTCCAGTGGCTCCCCCGACCTCTGTGCTCCCACGTCCAGTGGGTC CCCCTGACCTCTGTGA	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding		3595		chr16	TogoVar
ZNF280D_chr15_56625176_56738509	56669902	A A	ATTATATA others(93): Show ATTATATATATATATTACATATATATATTATATATATATTATATATATAT TATATATATATATTATATATATATATTATATATATATATTATATATATAT T	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	386	0.0026	100	c.141 others(117): Show c.1411-946_1411-945insAATATATATATAATATATATATATAATA TATATATATAATATATATATATAATATATATATAATATATATATAATATA TATATGTAATATATATATATAA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF280D_chr15_56625176_56738509	56669997	T T	TTATATAT others(93): Show TTATATATATATTATATATATATTATATATATATTATATATATATTATAT ATATATATATTATATATATATAATATATATATATATTATATATATATAAT A	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	386	0.0026	100	c.141 others(119): Show c.1411-1041_1411-1040insTATTATATATATATAATATATATATA TATTATATATATATAATATATATATATATAATATATATATAATATATATA TAATATATATATAATATATATATA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF280D_chr15_56625176_56738509	56670009	A A	ATTATATA others(93): Show ATTATATATATATTATATATATATATTATATATATATTATATATATATAA TATATATATAATATATATATATATTATATATATATAATATATATATATAT T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	386	0.0026	100	c.141 others(119): Show c.1411-1053_1411-1052insAATATATATATATATTATATATATAT AATATATATATATATTATATATATATTATATATATATAATATATATATAA TATATATATATAATATATATATAA	ZNF280D	ENSG00000137871.21	transcript	ENST00000267807.12	protein_coding	13/21			chr15	TogoVar
ZNF423_chr16_49482524_49861112	49677228	A A	AAAGAGAA others(93): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0006 a0001c0012t0002g0006	1	196	0.0051	100	c.302 others(119): Show c.302-38355_302-38354insCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC TCTTCTCTTCTCTTCTCTTCTCTT	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49677237	A A	AGAAGAGA others(93): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0085 a0001c0002t0011g0085	1	196	0.0051	100	c.302 others(119): Show c.302-38364_302-38363insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTTC	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49677242	A A	AGAAGAGA others(93): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGGGAAG GGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAG G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0086 a0001c0002t0006g0086	1	196	0.0051	100	c.302 others(119): Show c.302-38369_302-38368insCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTTC	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF423_chr16_49482524_49861112	49677242	A A	AGAAGAGA others(93): Show AGAAGAGAGAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAAGGGAAGGGAAG G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0017 a0001c0002t0006g0017	1	196	0.0051	100	c.302 others(119): Show c.302-38369_302-38368insCCTTCCCTTCCCTTCCCTTCCCTTCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTCTCTCTTC	ZNF423	ENSG00000102935.12	transcript	ENST00000563137.7	protein_coding	3/7			chr16	TogoVar
ZNF470_chr19_56562468_56587894	56572377	T T	TATATATG others(93): Show TATATATGTATATATATATATACACATATATATATATGTATATATATATA TACACATATATATATATGTATATATATATATATATATATATATATATACA C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0155 a0002c0003t0002g0155	1	420	0.0024	100	c.61- others(115): Show c.61-2011_61-2010insGTATATATATATATACACATATATATATAT GTATATATATATATACACATATATATATATGTATATATATATATATATAT ATATATATATACACATATAT	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF470_chr19_56562468_56587894	56572389	T T	TATATGTA others(93): Show TATATGTATATATATATATACACACATATATATGTATATATATATATACA CACATATATATATATATATATATATATATATATATACACATATATATATA A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0019 a0002c0003t0019	a0002c0003t0019g0140 a0002c0003t0019g0140	1	420	0.0024	100	c.61- others(115): Show c.61-2004_61-2003insTATGTATATATATATATACACACATATATA TGTATATATATATATACACACATATATATATATATATATATATATATATA TATACACATATATATATAAA	ZNF470	ENSG00000197016.12	transcript	ENST00000330619.13	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF511_chr10_133303914_133318161	133318116	A A	ACCCCCAG others(93): Show ACCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGAG ATGGAAAGACCACACCTCCCCCCCAGACACAGAGATGGAAAGACCACACC C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	100	c.52 others(111): Show c.5250_*5251insCCCCCAGACACAGAGATGGAAAGACCACACCCCC CCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAGAGA TGGAAAGACCACACCC	ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding		4956		chr10	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(93): Show CCTCCACCACCAACCACACCCCCCGCGCCGCACCCCTCCACCACCAACCA CACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCATC T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0287 a0001c0001t0036g0287	1	346	0.0029	100	c.181 others(121): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGG CGCGGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(93): Show CCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCATC T	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19000.hp1 NA19001.hp2 HG03098.hp2 NA19000.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0091 a0001c0001t0116 a0001c0001t0047 a0001c0001t0091 a0001c0001t0116	a0001c0001t0047g0022 a0001c0001t0091g0004 a0001c0001t0116g0116 a0001c0001t0047g0022 a0001c0001t0091g0004 a0001c0001t0116g0116	3	346	0.0087	100	c.181 others(121): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGTGTGGTTG GTGGTGGAGAGGTGCGGCGCGGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401866	C C	CCTCCACC others(93): Show CCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCCGCGCCGCATC T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01952.hp2 others(1): Show HG00735.hp2 HG01243.hp1 HG01952.hp2 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0002 a0001c0001t0014 a0001c0002t0129 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0129 a0002c0009t0193	a0001c0001t0002g0096 a0001c0001t0014g0052 a0001c0002t0129g0192 others(1): Show a0001c0001t0002g0096 a0001c0001t0014g0052 a0001c0002t0129g0192 a0002c0009t0193g0270	4	346	0.0116	100	c.181 others(121): Show c.1811-21564_1811-21563insAGATGCGGCGCGGGGGGTGTGGTT GGTGGTGGAGAGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCG GCGCGGGGGTGTGGTTGGTGGTGGAG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF543_chr19_57315472_57335770	57319459	C C	CATATATA others(93): Show CATATATATACATATATACATATACATACATATATATACATATATATACA TATACATACATATATATACATATATATACATATACATACATATATATACA T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0042 a0003c0003t0042	a0003c0003t0042g0144 a0003c0003t0042g0144	1	460	0.0022	100	c.-13 others(111): Show c.-1395_-1394insATATATATACATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATACATATATATACATATAC ATACATATATATACAT	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1012		chr19	TogoVar
ZNF543_chr19_57315472_57335770	57319469	T T	TATATATA others(93): Show TATATATACACATACATACATATATATACATATATATACACATACATACA TATATATACATATATATACACATACATACATATATATACATATATATACA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 NA18974.hp2 HG02145.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0005 a0003c0003t0004g0009 a0003c0003t0004g0005 a0003c0003t0004g0009	2	460	0.0044	100	c.-13 others(111): Show c.-1385_-1384insATATATACACATACATACATATATATACATATAT ATACACATACATACATATATATACATATATATACACATACATACATATAT ATACATATATATACAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1002		chr19	TogoVar
ZNF544_chr19_58223914_58268644	58241179	A A	AAATATAT others(93): Show AAATATATATATATATTTAAATATATATATATTTAAATATATATATATTT AAATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0006 a0003c0003t0004 a0003c0003t0006	a0003c0003t0004g0338 a0003c0003t0006g0030 a0003c0003t0004g0338 a0003c0003t0006g0030	2	394	0.0051	100	c.-59 others(117): Show c.-59-2786_-59-2785insAATATATATATATATTTAAATATATATA TATTTAAATATATATATATTTAAATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTT	ZNF544	ENSG00000198131.15	transcript	ENST00000687789.1	protein_coding	3/6			chr19	TogoVar
ZNF618_chr9_113871309_114061593	113951403	G G	GTATATAT others(93): Show GTATATATACACACACACATATATGTGTGTGTGTGTGTATATATATACAC ACATATATGTGTGTATATATATACACACACACATATATGTGTGTGTGTGT A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02155.hp1 NA18747.hp2 HG02132.hp1 HG02155.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 a0001c0002 a0001c0003 a0001c0007	a0001c0002t0011 a0001c0003t0002 a0001c0007t0095 a0001c0002t0011 a0001c0003t0002 a0001c0007t0095	a0001c0002t0011g0042 a0001c0003t0002g0037 a0001c0007t0095g0030 a0001c0002t0011g0042 a0001c0003t0002g0037 a0001c0007t0095g0030	3	264	0.0114	100	c.34- others(117): Show c.34-17700_34-17699insCACATATATGTGTGTGTGTGTGTATATA TATACACACATATATGTGTGTATATATATACACACACACATATATGTGTG TGTGTGTATATATATACACACA	ZNF618	ENSG00000157657.15	transcript	ENST00000374126.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr9	TogoVar

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