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 per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
USP30_chr12_109047576_109093023	109083266	TTTTGAAA others(28): Show TTTTGAAACCATATTACAGATGAAAAAGTACAGAGA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	396	0.0025	-35	c.116 others(52): Show c.1168+205_1168+239delTTTGAAACCATATTACAGATGAAAAAGT ACAGAGA		USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	11/12						chr12	TogoVar
USP36_chr17_78790652_78845814	78802070	ACCCGGTG others(28): Show ACCCGGTGCACACCCACGCGGTCCCCCACCCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	386	0.0026	-35	c.302 others(52): Show c.3022+219_3022+253delCAAGGGGGTGGGGGACCGCGTGGGTGTG CACCGGG		USP36	ENSG00000055483.20	transcript	ENST00000449938.7	protein_coding	17/20						chr17	TogoVar
USP37_chr2_218445251_218573351	218563851	CGAGACCA others(28): Show CGAGACCAGCCTGGCCAATGTGGTCTCGAACACATT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0178 a0001c0003t0023g0178	1	282	0.0036	-35	c.-22 others(54): Show c.-229-1073_-229-1039delAATGTGTTCGAGACCACATTGGCCAG GCTGGTCTC		USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	1/25						chr2	TogoVar
USP46_chr4_52585960_52664301	52632579	GGGAGGCT others(28): Show GGGAGGCTGAGGTGGGCAGATCCCTTGAGCCTCAGT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	192	0.0052	-35	c.37- others(50): Show c.37-1470_37-1436delACTGAGGCTCAAGGGATCTGCCCACCTCAG CCTCC		USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8						chr4	TogoVar
UTP20_chr12_101275105_101391618	101340937	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0024 a0024	a0024c0042 a0024c0042	a0024c0042t0001 a0024c0042t0001	a0024c0042t0001g0063 a0024c0042t0001g0063	1	356	0.0028	-35	c.410 others(52): Show c.4101+348_4101+382delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	32/61					INFO_REALIGN_3_PRIME	chr12	TogoVar
UTP4_chr16_69127649_69174021	69172882	AGAAGCTG others(28): Show AGAAGCTGGCTAAAACCCACCAAAACCAAGAAGGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	292	0.0034	-35	c.39 others(46): Show c.3946_*3980delGAAGCTGGCTAAAACCCACCAAAACCAAGAAGGC C		UTP4	ENSG00000141076.18	transcript	ENST00000314423.12	protein_coding					3862		chr16	TogoVar
VAMP3_chr1_7766296_7786432	7775771	ATTTACCC others(28): Show ATTTACCCTTATGTTTTCTTCTAAGAGTTTTATGGC	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	446	0.0022	-35	c.73- others(50): Show c.73-1384_73-1350delCCCTTATGTTTTCTTCTAAGAGTTTTATGG CTTTA		VAMP3	ENSG00000049245.13	transcript	ENST00000054666.11	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
VAV2_chr9_133756894_133997324	133759681	GGGGGAGG others(28): Show GGGGGAGGGGCGGAGCGAGGGGGAGGGGCGGAGCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(17): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00597.hp2 HG00621.hp2 HG01106.hp2 HG01243.hp1 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02451.hp1 HG02647.hp1 HG02723.hp2 HG02922.hp1 HG03139.hp2 HG03579.hp1 HG03704.hp2 NA19081.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0002c0001 a0003c0020	a0001c0002t0010 a0001c0003t0006 a0001c0004t0001 others(13): Show a0001c0002t0010 a0001c0003t0006 a0001c0004t0001 a0001c0006t0030 a0001c0008t0006 a0001c0009t0021 a0001c0019t0010 a0001c0021t0024 a0001c0022t0015 a0001c0023t0019 a0002c0001t0001 a0002c0001t0010 a0002c0001t0015 a0002c0001t0018 a0002c0001t0031 a0003c0020t0006	a0001c0002t0010g0186 a0001c0003t0006g0097 a0001c0003t0006g0159 others(17): Show a0001c0002t0010g0186 a0001c0003t0006g0097 a0001c0003t0006g0159 a0001c0004t0001g0131 a0001c0006t0030g0087 a0001c0008t0006g0140 a0001c0009t0021g0104 a0001c0019t0010g0090 a0001c0021t0024g0021 a0001c0022t0015g0055 a0001c0023t0019g0138 a0002c0001t0001g0022 a0002c0001t0001g0085 a0002c0001t0001g0109 a0002c0001t0001g0153 a0002c0001t0010g0031 a0002c0001t0015g0086 a0002c0001t0018g0200 a0002c0001t0031g0102 a0003c0020t0006g0047	20	200	0.1000	-35	c.43 others(46): Show c.4346_*4380delTCGCTCCGCCCCTCCCCCTCGCTCCGCCCCTCCC C		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding					2212		chr9	TogoVar
VAV2_chr9_133756894_133997324	133952853	AGGGAGCA others(28): Show AGGGAGCATGGCCCCCGGGACACCTAGAACCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0181 a0001c0002t0003g0181	1	200	0.0050	-35	c.205 others(54): Show c.205-13669_205-13635delCTCCAGGTTCTAGGTGTCCCGGGGGC CATGCTCCC		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	1/29						chr9	TogoVar
VAV3_chr1_107566161_107970180	107848216	GGCAGGAG others(28): Show GGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGCTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0111 a0002c0003t0001g0111	1	210	0.0048	-35	c.321 others(54): Show c.321+26650_321+26684delAAGCTCCGCCTCCAGGGTTCACGCCA TTCTCCTGC		VAV3	ENSG00000134215.16	transcript	ENST00000370056.9	protein_coding	2/26						chr1	TogoVar
VCX_chrX_7838171_7849143	7844240	GTGGGGAG others(28): Show GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG02809.hp2 HG03041.hp1	a0018 a0018	a0018c0018 a0018c0018	a0018c0018t0002 a0018c0018t0002	a0018c0018t0002g0002 a0018c0018t0002g0002	2	341	0.0059	-35	c.22 others(44): Show c.225_*259delTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA		VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding					98		chrX	TogoVar
VEGFA_chr6_43765211_43791487	43781327	CTGGCTCC others(28): Show CTGGCTCCTCACGGAGGTGGGGCCTCTGGAGGGGAG	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	446	0.0022	-35	c.103 others(52): Show c.1034+525_1034+559delTGGCTCCTCACGGAGGTGGGGCCTCTGG AGGGGAG		VEGFA	ENSG00000112715.26	transcript	ENST00000672860.3	protein_coding	6/7						chr6	TogoVar
VIPR2_chr7_159023175_159149867	159093771	CGCAGCGT others(28): Show CGCAGCGTCCCTGGGTCCGGACAGGGGAGAGGCCCT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	336	0.0030	-35	c.357 others(52): Show c.357+9951_357+9985delAGGGCCTCTCCCCTGTCCGGACCCAGGG ACGCTGC		VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12						chr7	TogoVar
VPS13B_chr8_99008274_99882580	99540037	ATATATAT others(28): Show ATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0010 a0012c0025t0010	a0012c0025t0010g0109 a0012c0025t0010g0109	1	134	0.0075	-35	c.474 others(56): Show c.4746-16411_4746-16377delATATATATATATATATATATATAT ATTTTTTTTTT		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	30/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
VPS13D_chr1_12225030_12517047	12285960	TTCCTTTC others(28): Show TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0047 a0001c0002t0040g0047	1	154	0.0065	-35	c.563 others(54): Show c.5634+2229_5635-2224delTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTCTCCT		VPS13D	ENSG00000048707.15	transcript	ENST00000620676.6	protein_coding	21/69					INFO_REALIGN_3_PRIME	chr1	TogoVar
VPS53_chr17_503668_719839	655475	CGTCACTC others(28): Show CGTCACTCTGTCTGCCTGGAGTGCATATGGGCCTGT	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18990.hp1 NA19011.hp2 NA18612.hp2 NA18990.hp1 NA19011.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026	3	232	0.0129	-35	c.488 others(50): Show c.488+328_488+362delACAGGCCCATATGCACTCCAGGCAGACAGA GTGAC		VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	6/21						chr17	TogoVar
VSTM2A_chr7_54537375_54576067	54565066	GAGTATAC others(28): Show GAGTATACATTCAAATGATAGCTGCACATCTCAATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(220): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18972.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19059.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0002t0001 a0002c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0108 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0011g0054 a0001c0001t0014g0036 a0001c0001t0016g0015 a0001c0001t0016g0216 a0001c0001t0017g0042 a0001c0001t0019g0113 a0001c0001t0020g0028 a0001c0001t0021g0004 a0001c0001t0023g0190 a0001c0001t0025g0165 a0001c0001t0026g0116 a0001c0001t0027g0010 a0001c0002t0001g0028 a0001c0002t0001g0158 a0002c0003t0002g0074	223	382	0.5838	-35	c.635 others(52): Show c.635-4064_635-4030delAGTATACATTCAAATGATAGCTGCACAT CTCAATT		VSTM2A	ENSG00000170419.11	transcript	ENST00000402613.4	protein_coding	4/4						chr7	TogoVar
VWA1_chr1_1430690_1447882	1443673	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01258.hp1 HG02257.hp1 others(8): Show HG00558.hp1 HG01258.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02622.hp2 HG03098.hp2 HG03579.hp2 HG06807.hp1 NA18982.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(3): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0027 a0001c0001t0029 a0001c0002t0002	a0001c0001t0003g0003 a0001c0001t0008g0005 a0001c0001t0015g0005 others(3): Show a0001c0001t0003g0003 a0001c0001t0008g0005 a0001c0001t0015g0005 a0001c0001t0027g0005 a0001c0001t0029g0035 a0001c0002t0002g0002	11	280	0.0393	-35	c.38 others(46): Show c.3887_*3921delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		VWA1	ENSG00000179403.12	transcript	ENST00000476993.2	protein_coding					792		chr1	TogoVar
VWA3A_chr16_22087541_22161964	22115898	GAAGGAAG others(28): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAGGAAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	294	0.0034	-35	c.815 others(50): Show c.815+435_815+469delAAGGAAGGAAGGAAGGAAAGGAAAGGAAAG GAAGG		VWA3A	ENSG00000175267.15	transcript	ENST00000389398.10	protein_coding	9/33					INFO_REALIGN_3_PRIME	chr16	TogoVar
VWA3B_chr2_98082167_98318299	98313108	ACAGGTCA others(28): Show ACAGGTCATCACTAGGGAAAATATTGGATGCTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0019 a0006c0007t0019	a0006c0007t0019g0059 a0006c0007t0019g0059	1	240	0.0042	-35	c.76 others(44): Show c.760_*794delCAGGTCATCACTAGGGAAAATATTGGATGCTTTTT		VWA3B	ENSG00000168658.20	transcript	ENST00000477737.6	protein_coding	28/28				760		chr2	TogoVar
VWA8_chr13_41561835_41966109	41841815	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0010 a0006c0007t0010	a0006c0007t0010g0154 a0006c0007t0010g0154	1	250	0.0040	-35	c.142 others(54): Show c.1426-8319_1426-8285delATATATATATATATATATATATATAT ATATTTTTT		VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	12/44						chr13	TogoVar
WAPL_chr10_86430256_86526792	86453017	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02897.hp2 HG00642.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0384 a0001c0001t0001g0287 a0001c0001t0001g0384	2	410	0.0049	-35	c.294 others(52): Show c.2949+168_2949+202delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		WAPL	ENSG00000062650.20	transcript	ENST00000298767.10	protein_coding	14/18						chr10	TogoVar
WASF2_chr1_27399230_27495167	27487513	ATATTATA others(28): Show ATATTATATATATTTTATACAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0221 a0001c0001t0014g0221	1	260	0.0039	-35	c.-44 others(52): Show c.-44+2438_-44+2472delATATATATTATATATTGTATAAAATATA TATAATA		WASF2	ENSG00000158195.11	transcript	ENST00000618852.5	protein_coding	1/8						chr1	TogoVar
WDR18_chr19_979345_999557	989131	AAGAGCAT others(28): Show AAGAGCATCTCAGTCCTCGAACCCACAACCCCCTCC	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG01496.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0084 a0002c0003t0001g0110 a0001c0001t0001g0084 a0002c0003t0001g0110	2	456	0.0044	-35	c.322 others(50): Show c.322-598_322-564delTCCAGAGCATCTCAGTCCTCGAACCCACAA CCCCC		WDR18	ENSG00000065268.11	transcript	ENST00000585809.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
WDR18_chr19_979345_999557	989164	TCCAGAGC others(28): Show TCCAGAGCATCTCAGTCCTCGAACCCACAACCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	456	0.0022	-35	c.322 others(50): Show c.322-583_322-549delTCCTCGAACCCACAACCCCCCCCAGAGCAT CTCAG		WDR18	ENSG00000065268.11	transcript	ENST00000585809.6	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr19	TogoVar
WDR25_chr14_100371485_100535303	100464734	CCATCTCA others(28): Show CCATCTCATCTCATCTCATCTCATCTCATCTCATCT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02886.hp1 others(7): Show HG02622.hp1 HG02809.hp1 HG02886.hp1 NA18945.hp1 NA18964.hp1 NA18973.hp1 NA18979.hp2 NA18984.hp2 NA18995.hp1 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0003c0006	a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0004t0001 a0003c0004t0003 a0003c0006t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0204 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0204 a0002c0002t0001g0016 a0002c0002t0001g0065 a0002c0002t0001g0078 a0002c0002t0001g0080 a0003c0004t0001g0141 a0003c0004t0003g0140 a0003c0006t0001g0158	10	228	0.0439	-35	c.823 others(52): Show c.823-3251_823-3217delCATCTCATCTCATCTCATCTCATCTCAT CTCATCT		WDR25	ENSG00000176473.14	transcript	ENST00000402312.8	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR27_chr6_169452212_169707029	169654697	GAGGAGGA others(28): Show GAGGAGGAGGCGCGCACAGGAGAAGGAGGCGCGCAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG02280.hp2 others(7): Show HG00438.hp2 HG00597.hp1 HG02280.hp2 HG02615.hp2 HG03540.hp2 NA18945.hp1 NA18951.hp2 NA18954.hp2 NA19062.hp2 NA19084.hp2	a0002 a0010 a0002 a0010	a0002c0008 a0010c0016 a0002c0008 a0010c0016	a0002c0008t0003 a0002c0008t0007 a0010c0016t0007 a0002c0008t0003 a0002c0008t0007 a0010c0016t0007	a0002c0008t0003g0197 a0002c0008t0003g0198 a0002c0008t0003g0199 others(7): Show a0002c0008t0003g0197 a0002c0008t0003g0198 a0002c0008t0003g0199 a0002c0008t0003g0200 a0002c0008t0003g0234 a0002c0008t0007g0201 a0002c0008t0007g0202 a0010c0016t0007g0195 a0010c0016t0007g0196 a0010c0016t0007g0203	10	294	0.0340	-35	c.140 others(54): Show c.1403-2724_1403-2690delGTGCGCGCCTCCTTCTCCTGTGCGCG CCTCCTCCT		WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	13/25						chr6	TogoVar
WDR4_chr21_42844226_42884539	42848469	GCGGCGCA others(28): Show GCGGCGCACACCTCACTCACACAGCGCACGATCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00738.hp2 others(51): Show HG00099.hp2 HG00140.hp1 HG00738.hp2 HG01069.hp1 HG01081.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0004 a0005c0009 a0002c0002 a0004c0004 a0005c0009	a0002c0002t0003 a0004c0004t0003 a0005c0009t0003 a0002c0002t0003 a0004c0004t0003 a0005c0009t0003	a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0034 others(39): Show a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0304 a0004c0004t0003g0205 a0004c0004t0003g0206 a0005c0009t0003g0287 a0005c0009t0003g0288	54	400	0.1350	-35	c.15 others(46): Show c.1545_*1579delTGTGATCGTGCGCTGTGTGAGTGAGGTGTGCGCC G		WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding					756		chr21	TogoVar
WIZ_chr19_15414978_15454956	15425836	GGGAGGAG others(28): Show GGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	208	0.0048	-35	c.436 others(51): Show c.4367-103_4367-69delTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCC		WIZ	ENSG00000011451.21	transcript	ENST00000673675.1	protein_coding	9/12						chr19	TogoVar
WNT3A_chr1_228001998_228066271	228055170	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	382	0.0026	-35	c.580 others(52): Show c.580-3814_580-3780delAAAAAAAAATATATATATATATATATAT ATATATA		WNT3A	ENSG00000154342.6	transcript	ENST00000284523.2	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr1	TogoVar
WNT3_chr17_46757506_46823692	46823041	TATTTATA others(28): Show TATTTATAATAAATATGTATTTATAATAAATATGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	281	0.0036	-35	c.-44 others(46): Show c.-4479_-4445delTACATATTTATTATAAATACATATTTATTATAAA T		WNT3	ENSG00000108379.11	transcript	ENST00000225512.6	protein_coding					4350		chr17	TogoVar
WNT3_chr17_46757506_46823692	46823061	TTATAATA others(28): Show TTATAATAAATATGTATTTATAATAAATATGTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	281	0.0036	-35	c.-44 others(46): Show c.-4499_-4465delTAATACATATTTATTATAAATACATATTTATTAT A		WNT3	ENSG00000108379.11	transcript	ENST00000225512.6	protein_coding					4370		chr17	TogoVar
WNT6_chr2_218854805_218879233	218866558	CACCAGTT others(28): Show CACCAGTTGTTGGAGGAAGCCCACTCTCTGGACAGG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	358	0.0028	-35	c.81- others(50): Show c.81-4468_81-4434delACCAGTTGTTGGAGGAAGCCCACTCTCTGG ACAGG		WNT6	ENSG00000115596.4	transcript	ENST00000233948.4	protein_coding	1/3						chr2	TogoVar
WRAP53_chr17_7683477_7708502	7699460	ATATATAT others(28): Show ATATATATATATATATTTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0125 a0004c0005t0001g0125	1	384	0.0026	-35	c.643 others(52): Show c.643-1280_643-1246delTATATATATATATATTTATATATATATA TATATAT		WRAP53	ENSG00000141499.18	transcript	ENST00000396463.7	protein_coding	4/10						chr17	TogoVar
WWOX_chr16_78094654_79217667	78723554	CTTCTTTT others(28): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0101 a0003c0004t0003g0101	1	142	0.0070	-35	c.105 others(58): Show c.1056+290845_1056+290879delCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTT		WWOX	ENSG00000186153.19	transcript	ENST00000566780.6	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr16	TogoVar
WWTR1_chr3_149512235_149663025	149579617	GCTTGGGC others(28): Show GCTTGGGCAACATAAAAAGACCCTAGCTCTTAAAAA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	334	0.0030	-35	c.432 others(52): Show c.432-6652_432-6618delTTTTTAAGAGCTAGGGTCTTTTTATGTT GCCCAAG		WWTR1	ENSG00000018408.15	transcript	ENST00000360632.8	protein_coding	2/6						chr3	TogoVar
XDH_chr2_31329321_31419742	31343445	TTATACAT others(28): Show TTATACATATATGCCTTATACATATATGTATAATAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 NA19005.hp1 others(1): Show HG00423.hp1 HG00609.hp2 NA19005.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0027 a0001c0001 a0001c0002 a0002c0027	a0001c0001t0001 a0001c0002t0001 a0002c0027t0001 a0001c0001t0001 a0001c0002t0001 a0002c0027t0001	a0001c0001t0001g0133 a0001c0001t0001g0321 a0001c0002t0001g0294 others(1): Show a0001c0001t0001g0133 a0001c0001t0001g0321 a0001c0002t0001g0294 a0002c0027t0001g0084	4	370	0.0108	-35	c.340 others(54): Show c.3405-1183_3405-1149delGTATTATACATATATGTATAAGGCAT ATATGTATA		XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	31/35						chr2	TogoVar
XPNPEP1_chr10_109859766_109928511	109916651	CGAGAGTA others(28): Show CGAGAGTAAACATATTATTCTTTCATAAAAAAGTAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	344	0.0029	-35	c.33- others(50): Show c.33-1587_33-1553delTTACTTTTTTATGAAAGAATAATATGTTTA CTCTC		XPNPEP1	ENSG00000108039.18	transcript	ENST00000502935.6	protein_coding	1/20						chr10	TogoVar
XXYLT1_chr3_195063284_195276159	195185087	AAGGAAGG others(28): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp1 HG02630.hp1 others(13): Show HG02055.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0020 a0001c0001t0024 a0001c0003t0015	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0103 others(13): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0180 a0001c0001t0002g0032 a0001c0001t0002g0175 a0001c0001t0003g0033 a0001c0001t0006g0029 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0013g0106 a0001c0001t0020g0109 a0001c0001t0024g0173 a0001c0003t0015g0027	16	198	0.0808	-35	c.653 others(54): Show c.653-28541_653-28507delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCT		XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	2/3						chr3	TogoVar
YARS1_chr1_32770239_32822358	32796996	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	332	0.0030	-35	c.591 others(50): Show c.591+732_591+766delATATATATATATATATATATATATATATAT ATATA		YARS1	ENSG00000134684.13	transcript	ENST00000373477.9	protein_coding	5/12						chr1	TogoVar
YJU2_chr19_4242080_4274088	4247583	GTGTGTGT others(28): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02129.hp1 NA18998.hp2 HG02109.hp2 HG02129.hp1 NA18998.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0052 a0001c0002t0001g0124 a0001c0002t0001g0125	3	384	0.0078	-35	c.24+ others(48): Show c.24+414_24+448delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT		YJU2	ENSG00000105248.16	transcript	ENST00000262962.12	protein_coding	1/7						chr19	TogoVar
YWHAQ_chr2_9578967_9635997	9602843	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18977.hp1 NA18984.hp2 others(1): Show HG02809.hp1 NA18977.hp1 NA18984.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0071 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0071 a0001c0001t0001g0192	4	272	0.0147	-35	c.295 others(54): Show c.295-11363_295-11329delATATATATATATATATTTTTTTTTTT TTTTTTTTT		YWHAQ	ENSG00000134308.14	transcript	ENST00000238081.8	protein_coding	2/5						chr2	TogoVar
YWHAQ_chr2_9578967_9635997	9602845	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	272	0.0037	-35	c.295 others(54): Show c.295-11365_295-11331delATATATATATATATATATTTTTTTTT TTTTTTTTT		YWHAQ	ENSG00000134308.14	transcript	ENST00000238081.8	protein_coding	2/5						chr2	TogoVar
YWHAQ_chr2_9578967_9635997	9602847	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	272	0.0037	-35	c.295 others(54): Show c.295-11367_295-11333delATATATATATATATATATATTTTTTT TTTTTTTTT		YWHAQ	ENSG00000134308.14	transcript	ENST00000238081.8	protein_coding	2/5						chr2	TogoVar
YWHAQ_chr2_9578967_9635997	9602849	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	272	0.0037	-35	c.295 others(54): Show c.295-11369_295-11335delATATATATATATATATATATATTTTT TTTTTTTTT		YWHAQ	ENSG00000134308.14	transcript	ENST00000238081.8	protein_coding	2/5						chr2	TogoVar
ZAN_chr7_100728595_100802797	100787939	GGCTTCAG others(28): Show GGCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(49): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00597.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01934.hp1 HG02080.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03195.hp1 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0003 a0015 a0018 others(11): Show a0003 a0015 a0018 a0019 a0022 a0024 a0027 a0037 a0040 a0041 a0043 a0050 a0055 a0058	a0003c0003 a0003c0033 a0003c0041 others(17): Show a0003c0003 a0003c0033 a0003c0041 a0003c0076 a0003c0078 a0015c0021 a0015c0088 a0018c0038 a0018c0102 a0019c0012 a0022c0020 a0024c0040 a0027c0031 a0037c0100 a0040c0042 a0041c0083 a0043c0072 a0050c0065 a0055c0059 a0058c0049	a0003c0003t0001 a0003c0033t0001 a0003c0041t0001 others(17): Show a0003c0003t0001 a0003c0033t0001 a0003c0041t0001 a0003c0076t0001 a0003c0078t0001 a0015c0021t0001 a0015c0088t0001 a0018c0038t0002 a0018c0102t0002 a0019c0012t0001 a0022c0020t0001 a0024c0040t0002 a0027c0031t0001 a0037c0100t0001 a0040c0042t0001 a0041c0083t0001 a0043c0072t0001 a0050c0065t0001 a0055c0059t0001 a0058c0049t0001	a0003c0003t0001g0096 a0003c0003t0001g0112 a0003c0003t0001g0113 others(49): Show a0003c0003t0001g0096 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0157 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0225 a0003c0003t0001g0234 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0251 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0262 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0033t0001g0242 a0003c0033t0001g0244 a0003c0041t0001g0247 a0003c0076t0001g0258 a0003c0078t0001g0256 a0015c0021t0001g0052 a0015c0021t0001g0058 a0015c0021t0001g0059 a0015c0088t0001g0056 a0018c0038t0002g0003 a0018c0038t0002g0045 a0018c0102t0002g0002 a0019c0012t0001g0126 a0019c0012t0001g0131 a0019c0012t0001g0135 a0022c0020t0001g0053 a0022c0020t0001g0054 a0022c0020t0001g0057 a0024c0040t0002g0047 a0024c0040t0002g0048 a0027c0031t0001g0196 a0027c0031t0001g0201 a0037c0100t0001g0079 a0040c0042t0001g0140 a0041c0083t0001g0205 a0043c0072t0001g0298 a0050c0065t0001g0120 a0055c0059t0001g0107 a0058c0049t0001g0099	52	308	0.1688	-35	c.703 others(44): Show c.7032_7066delCTTCAGCTACCGCTTGCAAGGCCGCATGACCTATG	p.Phe others(6): Show p.Phe2345fs	ZAN	ENSG00000146839.19	transcript	ENST00000613979.5	protein_coding	38/48	7228/8700	7032/8439	2344/2812		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZC3H3_chr8_143432659_143546447	143492742	CTCCCGTG others(28): Show CTCCCGTGTCCTGGCCCAGGGGCTCCCTCCTCAGGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0001 a0001c0035t0001	a0001c0035t0001g0074 a0001c0035t0001g0074	1	352	0.0028	-35	c.171 others(56): Show c.1715+14969_1715+15003delCCCTGAGGAGGGAGCCCCTGGGCC AGGACACGGGA		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZC3H3_chr8_143432659_143546447	143492847	GTCCCGTG others(28): Show GTCCCGTGTCCTGGCCCAGGGGCTCCCTCCTCAGGC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00621.hp2 others(31): Show HG00408.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01943.hp2 HG01981.hp2 HG02132.hp2 HG02148.hp1 HG02300.hp2 HG02523.hp1 NA18747.hp2 NA18940.hp1 NA18943.hp1 NA18951.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18973.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18989.hp1 NA18993.hp2 NA19000.hp2 NA19005.hp2 NA19064.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19091.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0003c0042 a0006c0006 a0003c0003 a0003c0042 a0006c0006	a0003c0003t0002 a0003c0042t0002 a0006c0006t0001 others(1): Show a0003c0003t0002 a0003c0042t0002 a0006c0006t0001 a0006c0006t0002	a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 others(31): Show a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0105 a0003c0003t0002g0106 a0003c0003t0002g0108 a0003c0003t0002g0109 a0003c0003t0002g0112 a0003c0003t0002g0113 a0003c0003t0002g0114 a0003c0003t0002g0115 a0003c0003t0002g0116 a0003c0003t0002g0117 a0003c0003t0002g0118 a0003c0003t0002g0119 a0003c0003t0002g0120 a0003c0003t0002g0121 a0003c0003t0002g0125 a0003c0003t0002g0136 a0003c0003t0002g0137 a0003c0003t0002g0138 a0003c0042t0002g0111 a0006c0006t0001g0103 a0006c0006t0001g0104 a0006c0006t0001g0107 a0006c0006t0001g0110 a0006c0006t0001g0122 a0006c0006t0001g0123 a0006c0006t0001g0124 a0006c0006t0002g0098 a0006c0006t0002g0099	34	352	0.0966	-35	c.171 others(56): Show c.1715+14864_1715+14898delGCCTGAGGAGGGAGCCCCTGGGCC AGGACACGGGA		ZC3H3	ENSG00000014164.7	transcript	ENST00000262577.6	protein_coding	4/11						chr8	TogoVar
ZC3H6_chr2_112270597_112345059	112338878	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0019 a0003c0005t0019	a0003c0005t0019g0034 a0003c0005t0019g0034	2	288	0.0069	-35	c.63 others(46): Show c.6393_*6427delATATATATATATATATATATATATATATATATAA T		ZC3H6	ENSG00000188177.15	transcript	ENST00000409871.6	protein_coding	12/12				6393	INFO_REALIGN_3_PRIME	chr2	TogoVar
ZCWPW2_chr3_28343721_28531358	28448784	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02970.hp1 HG01169.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0023 a0002c0002t0004 a0001c0001t0023 a0002c0002t0004	a0001c0001t0023g0212 a0002c0002t0004g0154 a0001c0001t0023g0212 a0002c0002t0004g0154	2	254	0.0079	-35	c.492 others(54): Show c.492+13532_492+13566delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		ZCWPW2	ENSG00000206559.8	transcript	ENST00000383768.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr3	TogoVar

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