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
CSTPP1_chr11_46931761_47167247	46939631	CATAGATA others(5): Show CATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	224	0.0045	-12	c.46+ others(27): Show c.46+2813_46+2824delATAGATAGATAG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	46974857	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 HG01358.hp1 others(35): Show HG01109.hp2 HG01243.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18960.hp2 NA18964.hp1 NA18971.hp2 NA18978.hp2 NA19030.hp2 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0001 a0002c0002t0001 a0005c0006t0001	a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0107 others(35): Show a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0004g0220 a0001c0005t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0005c0006t0001g0200	38	224	0.1696	-12	c.47- others(29): Show c.47-12315_47-12304delCACACACACACA	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CSTPP1_chr11_46931761_47167247	46976718	TATGCAGT others(5): Show TATGCAGTCATCC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	224	0.0045	-12	c.47- others(29): Show c.47-10486_47-10475delCAGTCATCCATG	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56295951	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18952.hp1 HG02257.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0066 a0001c0001t0001g0104	2	316	0.0063	-12	c.42+ others(27): Show c.42+4197_42+4208delTTTTTTTTTTTT	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding	1/10			chr12	TogoVar
CT45A10_chrX_135876065_135898444	135880563	AACACACA others(5): Show AACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03195.hp1 NA18953.hp1 HG02622.hp2 HG03195.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0001 a0001c0001t0001g0093 a0001c0001t0001g0109	3	258	0.0116	-12	c.68 others(21): Show c.683_*694delGTGTGTGTGTGT	CT45A10	ENSG00000269586.8	transcript	ENST00000682849.1	protein_coding		501		chrX	TogoVar
CT45A1_chrX_135708639_135728228	135718514	ACATATTT others(5): Show ACATATTTTGCAT	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0036 a0004c0004t0001g0036	1	57	0.0175	-12	c.-6- others(25): Show c.-6-420_-6-409delCATATTTTGCAT	CT45A1	ENSG00000268940.6	transcript	ENST00000594565.6	protein_coding	1/4			chrX	TogoVar
CT45A3_chrX_135755044_135773191	135768418	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18962.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18974.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19085.hp1 NA19089.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0002 a0003c0006 others(3): Show a0001c0001 a0002c0002 a0003c0006 a0004c0005 a0005c0004 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001 a0003c0006t0001 a0004c0005t0006 a0005c0004t0001 a0006c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0002g0068 a0001c0001t0003g0047 a0001c0001t0004g0043 a0001c0001t0005g0050 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0001g0040 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0066 a0002c0002t0001g0074 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0003c0006t0001g0061 a0004c0005t0006g0082 a0005c0004t0001g0060 a0006c0003t0001g0081	154	160	0.9625	-12	c.-32 others(21): Show c.-329_-318delCTTTCTTTCTTT	CT45A3	ENSG00000269096.7	transcript	ENST00000598716.3	protein_coding		228		chrX	TogoVar
CT45A5_chrX_135770852_135790503	135786614	AAAAGAAA others(5): Show AAAAGAAAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0018 a0003c0003t0018	a0003c0003t0018g0119 a0003c0003t0018g0119	1	177	0.0057	-12	c.-13 others(23): Show c.-1396_-1385delCTCTCTTTCTTT	CT45A5	ENSG00000228836.9	transcript	ENST00000698999.1	protein_coding		1112		chrX	TogoVar
CT45A7_chrX_135824229_135842280	135824435	TCGGAACC others(5): Show TCGGAACCTGATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0002 a0003c0003t0004g0002	1	19	0.0526	-12	c.49 others(23): Show c.4993_*5004delTATCAGGTTCCG	CT45A7	ENSG00000273696.5	transcript	ENST00000610598.5	protein_coding		4793		chrX	TogoVar
CT47A1_chrX_120977476_120990760	120979569	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0026 a0003c0010t0001g0026	1	302	0.0033	-12	c.30 others(23): Show c.3057_*3068delGATGCGCCAAGG	CT47A1	ENSG00000236371.6	transcript	ENST00000433030.4	protein_coding		2906		chrX	TogoVar
CT47A1_chrX_120977476_120990760	120989541	CACAAAAT others(5): Show CACAAAATACTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	302	0.0033	-12	c.-40 others(23): Show c.-4024_-4013delTTAGTATTTTGT	CT47A1	ENSG00000236371.6	transcript	ENST00000433030.4	protein_coding		3782		chrX	TogoVar
CT47A2_chrX_120972606_120985928	120973060	TTAAACAA others(5): Show TTAAACAAGTAGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	253	0.0040	-12	c.47 others(23): Show c.4706_*4717delTCTACTTGTTTA	CT47A2	ENSG00000242362.2	transcript	ENST00000458218.3	protein_coding		4545		chrX	TogoVar
CT47A2_chrX_120972606_120985928	120974709	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02273.hp2 HG03669.hp2 others(1): Show HG02155.hp2 HG02273.hp2 HG03669.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0002g0001	4	253	0.0158	-12	c.30 others(23): Show c.3057_*3068delGATGCGCCAAGG	CT47A2	ENSG00000242362.2	transcript	ENST00000458218.3	protein_coding		2896		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120969849	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01496.hp2 others(14): Show HG01081.hp2 HG01243.hp1 HG01496.hp2 HG01978.hp2 HG02040.hp1 HG02083.hp1 HG02145.hp1 HG02698.hp1 HG02922.hp2 HG03540.hp2 HG04184.hp2 NA18952.hp1 NA18969.hp2 NA18984.hp1 NA19009.hp1 NA19056.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0001t0001 a0001c0001t0002 a0001c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0013t0001g0022	17	201	0.0846	-12	c.30 others(23): Show c.3057_*3068delGATGCGCCAAGG	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding		2896		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120974709	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	-12	c.742 others(27): Show c.742+347_742+358delGATGCGCCAAGG	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/2			chrX	TogoVar
CT47A4_chrX_120962886_120976208	120964989	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01099.hp1 others(26): Show HG00140.hp1 HG00673.hp1 HG01099.hp1 HG01258.hp1 HG01952.hp1 HG02055.hp1 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03516.hp2 HG03579.hp1 HG03834.hp2 HG04199.hp1 NA18522.hp1 NA18945.hp1 NA18971.hp1 NA18981.hp2 NA18986.hp1 NA18992.hp2 NA19007.hp1 NA19030.hp2 NA19079.hp1 NA19240.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0017 a0002c0003 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0008t0001 a0001c0017t0001 a0002c0003t0001 a0002c0003t0002 a0007c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(9): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0022 a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0002t0002g0004 a0001c0008t0001g0015 a0001c0017t0001g0026 a0002c0003t0001g0008 a0002c0003t0002g0010 a0007c0009t0001g0016	29	164	0.1768	-12	c.30 others(23): Show c.3057_*3068delGATGCGCCAAGG	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding		2896		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120960128	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG01169.hp2 others(25): Show HG00558.hp2 HG00642.hp1 HG01169.hp2 HG01192.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp1 HG02074.hp1 HG02132.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03704.hp2 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18941.hp2 NA18988.hp1 NA19085.hp1 NA19090.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001 a0001c0004t0004 a0002c0003t0001 a0002c0003t0002 a0007c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0002t0002g0006 a0001c0004t0001g0015 a0001c0004t0004g0031 a0002c0003t0001g0005 a0002c0003t0002g0037 a0007c0007t0001g0013	28	130	0.2154	-12	c.30 others(23): Show c.3058_*3069delGATGCGCCAAGG	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding		2897		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120955245	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00609.hp1 others(73): Show HG00140.hp1 HG00323.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02109.hp1 HG02135.hp1 HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18944.hp1 NA18948.hp1 NA18962.hp1 NA18983.hp1 NA19009.hp1 NA19055.hp1 NA19060.hp1 NA19070.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0016 a0002c0003 a0004c0015 a0005c0012 a0006c0009 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0001 a0001c0004t0001 a0001c0004t0006 a0001c0005t0001 a0001c0006t0002 a0001c0010t0002 a0001c0016t0001 a0002c0003t0001 a0002c0003t0002 a0004c0015t0001 a0005c0012t0001 a0006c0009t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0001t0008g0030 a0001c0002t0001g0005 a0001c0004t0001g0010 a0001c0004t0006g0020 a0001c0005t0001g0009 a0001c0006t0002g0012 a0001c0010t0002g0031 a0001c0016t0001g0028 a0002c0003t0001g0007 a0002c0003t0002g0008 a0004c0015t0001g0027 a0005c0012t0001g0024 a0006c0009t0001g0019 a0007c0011t0001g0023	76	110	0.6909	-12	c.30 others(23): Show c.3080_*3091delGATGCGCCAAGG	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding		2919		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120950385	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG02486.hp1 NA20805.hp1 HG01358.hp1 HG02486.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	19	0.1579	-12	c.30 others(23): Show c.3057_*3068delGATGCGCCAAGG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding		2896		chrX	TogoVar
CT47A7_chrX_120948282_120961600	120955245	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	19	0.0526	-12	c.742 others(27): Show c.742+347_742+358delGATGCGCCAAGG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2			chrX	TogoVar
CT47A8_chrX_120943422_120956744	120945524	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02056.hp1 HG00621.hp1 HG02056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0004 a0001c0001t0001g0001 a0002c0003t0001g0004	2	7	0.2857	-12	c.30 others(23): Show c.3058_*3069delGATGCGCCAAGG	CT47A8	ENSG00000230347.5	transcript	ENST00000457977.3	protein_coding		2897		chrX	TogoVar
CT47A8_chrX_120943422_120956744	120955245	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	7	0.1429	-12	c.-37 others(23): Show c.-3772_-3761delGATGCGCCAAGG	CT47A8	ENSG00000230347.5	transcript	ENST00000457977.3	protein_coding		3502		chrX	TogoVar
CTBP2_chr10_124979317_125033071	124980431	TTATTTTA others(5): Show TTATTTTAGGCAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0006 a0005c0006t0001g0006	1	380	0.0026	-12	c.90 others(23): Show c.9075_*9086delGTGCCTAAAATA	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding		3885		chr10	TogoVar
CTBP2_chr10_124979317_125033071	124986281	GCGCGCGC others(5): Show GCGCGCGCGCGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(6): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01261.hp1 HG01433.hp2 HG02559.hp1 HG02738.hp2 HG03942.hp1 NA20905.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0002 a0003c0004 a0004c0003 others(1): Show a0002c0002 a0003c0004 a0004c0003 a0006c0007	a0002c0002t0017 a0002c0002t0093 a0003c0004t0017 others(3): Show a0002c0002t0017 a0002c0002t0093 a0003c0004t0017 a0004c0003t0017 a0004c0003t0043 a0006c0007t0119	a0002c0002t0017g0194 a0002c0002t0017g0201 a0002c0002t0017g0212 others(6): Show a0002c0002t0017g0194 a0002c0002t0017g0201 a0002c0002t0017g0212 a0002c0002t0093g0188 a0003c0004t0017g0231 a0004c0003t0017g0279 a0004c0003t0043g0276 a0004c0003t0043g0278 a0006c0007t0119g0302	9	380	0.0237	-12	c.32 others(23): Show c.3225_*3236delTGCGCGCGCGCG	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	9/9	3225		chr10	TogoVar
CTBP2_chr10_124979317_125033071	125018553	CAACAAAC others(5): Show CAACAAACAAACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(107): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18952.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0012 a0017 a0022	a0001c0001 a0001c0009 a0001c0033 others(19): Show a0001c0001 a0001c0009 a0001c0033 a0001c0036 a0002c0002 a0002c0010 a0002c0015 a0002c0025 a0002c0026 a0003c0004 a0004c0003 a0004c0034 a0004c0035 a0005c0006 a0005c0024 a0007c0013 a0007c0038 a0007c0039 a0008c0037 a0012c0017 a0017c0022 a0022c0042	a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 others(53): Show a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0009t0011 a0001c0033t0069 a0001c0036t0073 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0010 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0022 a0002c0002t0027 a0002c0002t0028 a0002c0002t0032 a0002c0002t0040 a0002c0002t0041 a0002c0002t0047 a0002c0002t0080 a0002c0002t0093 a0002c0002t0094 a0002c0002t0098 a0002c0002t0108 a0002c0002t0109 a0002c0002t0112 a0002c0002t0113 a0002c0002t0114 a0002c0010t0002 a0002c0015t0042 a0002c0015t0092 a0002c0025t0002 a0002c0026t0028 a0003c0004t0002 a0003c0004t0018 a0004c0003t0005 a0004c0003t0006 a0004c0003t0029 a0004c0003t0086 a0004c0034t0103 a0004c0035t0048 a0005c0006t0034 a0005c0024t0067 a0007c0013t0014 a0007c0013t0029 a0007c0013t0104 a0007c0013t0111 a0007c0038t0014 a0007c0039t0029 a0008c0037t0006 a0012c0017t0053 a0017c0022t0002 a0022c0042t0014	a0001c0001t0070g0147 a0001c0001t0071g0149 a0001c0001t0072g0051 others(96): Show a0001c0001t0070g0147 a0001c0001t0071g0149 a0001c0001t0072g0051 a0001c0009t0011g0148 a0001c0033t0069g0150 a0001c0036t0073g0152 a0002c0002t0002g0003 a0002c0002t0002g0017 a0002c0002t0002g0020 a0002c0002t0002g0167 a0002c0002t0002g0170 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0184 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0004g0179 a0002c0002t0004g0186 a0002c0002t0004g0200 a0002c0002t0004g0211 a0002c0002t0006g0206 a0002c0002t0007g0183 a0002c0002t0007g0196 a0002c0002t0007g0214 a0002c0002t0010g0198 a0002c0002t0015g0019 a0002c0002t0015g0166 a0002c0002t0015g0172 a0002c0002t0015g0173 a0002c0002t0016g0016 a0002c0002t0016g0168 a0002c0002t0016g0169 a0002c0002t0016g0171 a0002c0002t0017g0194 a0002c0002t0017g0201 a0002c0002t0017g0212 a0002c0002t0018g0174 a0002c0002t0018g0178 a0002c0002t0018g0202 a0002c0002t0018g0216 a0002c0002t0022g0018 a0002c0002t0022g0195 a0002c0002t0022g0199 a0002c0002t0027g0021 a0002c0002t0027g0175 a0002c0002t0028g0219 a0002c0002t0032g0222 a0002c0002t0032g0223 a0002c0002t0040g0189 a0002c0002t0041g0187 a0002c0002t0041g0221 a0002c0002t0047g0176 a0002c0002t0047g0181 a0002c0002t0080g0185 a0002c0002t0093g0188 a0002c0002t0094g0197 a0002c0002t0098g0225 a0002c0002t0108g0204 a0002c0002t0109g0182 a0002c0002t0112g0210 a0002c0002t0113g0193 a0002c0002t0114g0213 a0002c0010t0002g0002 a0002c0010t0002g0162 a0002c0010t0002g0163 a0002c0015t0042g0190 a0002c0015t0042g0192 a0002c0015t0092g0191 a0002c0025t0002g0208 a0002c0026t0028g0224 a0003c0004t0002g0248 a0003c0004t0002g0257 a0003c0004t0002g0258 a0003c0004t0018g0243 a0004c0003t0005g0022 a0004c0003t0005g0292 a0004c0003t0006g0291 a0004c0003t0029g0262 a0004c0003t0086g0277 a0004c0034t0103g0296 a0004c0035t0048g0293 a0005c0006t0034g0038 a0005c0024t0067g0033 a0007c0013t0014g0316 a0007c0013t0029g0318 a0007c0013t0104g0317 a0007c0013t0111g0319 a0007c0038t0014g0312 a0007c0039t0029g0313 a0008c0037t0006g0310 a0012c0017t0053g0160 a0017c0022t0002g0157 a0022c0042t0014g0320	110	380	0.2895	-12	c.167 others(31): Show c.1678+7517_1678+7528delTGTTTGTTTGTT	CTBP2	ENSG00000175029.17	transcript	ENST00000309035.11	protein_coding	1/8			chr10	TogoVar
CTBS_chr1_84544611_84579440	84560093	AAAAAAAA others(5): Show AAAAAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0122	1	340	0.0029	-12	c.957 others(29): Show c.957+3152_957+3163delCTTTCTTTTTTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	6/6			chr1	TogoVar
CTBS_chr1_84544611_84579440	84560097	AAAAGAAA others(5): Show AAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(32): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00673.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp1 HG02280.hp1 HG03041.hp1 HG03239.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18965.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA19012.hp1 NA19056.hp1 NA19074.hp2 NA19075.hp1 NA19083.hp1 NA19084.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0006c0011	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0013 a0001c0002t0020 a0001c0002t0027 a0002c0005t0003 a0006c0011t0003	a0001c0001t0003g0022 a0001c0001t0003g0093 a0001c0002t0002g0041 others(13): Show a0001c0001t0003g0022 a0001c0001t0003g0093 a0001c0002t0002g0041 a0001c0002t0003g0004 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0013g0026 a0001c0002t0020g0123 a0001c0002t0027g0124 a0002c0005t0003g0106 a0002c0005t0003g0111 a0006c0011t0003g0139	35	340	0.1029	-12	c.957 others(29): Show c.957+3148_957+3159delCTTTCTTTCTTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	6/6			chr1	TogoVar
CTBS_chr1_84544611_84579440	84560125	GAAAGAAA others(5): Show GAAAGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0108 a0002c0005t0016g0108	1	340	0.0029	-12	c.957 others(29): Show c.957+3120_957+3131delTTTCCTTTCTTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	6/6			chr1	TogoVar
CTBS_chr1_84544611_84579440	84576073	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0112 a0002c0005t0004g0112	1	340	0.0029	-12	c.-16 others(23): Show c.-1670_-1659delTTTTTTTTTTTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		1634		chr1	TogoVar
CTC1_chr17_8219815_8253056	8242531	GAGAAAAA others(5): Show GAGAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG03139.hp2 others(5): Show HG02965.hp1 HG03041.hp2 HG03139.hp2 NA18942.hp1 NA18992.hp2 NA19000.hp1 NA19076.hp2 NA19086.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0024 a0002c0001t0030 others(2): Show a0002c0001t0002 a0002c0001t0024 a0002c0001t0030 a0002c0001t0044 a0002c0001t0045	a0002c0001t0002g0060 a0002c0001t0002g0069 a0002c0001t0002g0070 others(5): Show a0002c0001t0002g0060 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0071 a0002c0001t0024g0039 a0002c0001t0030g0041 a0002c0001t0044g0037 a0002c0001t0045g0038	8	402	0.0199	-12	c.197 others(27): Show c.197+442_197+453delTTTTTTTTTTCT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8242545	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA19240.hp2 HG01993.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0004 a0001c0003 a0003c0004	a0001c0003t0008 a0003c0004t0001 a0001c0003t0008 a0003c0004t0001	a0001c0003t0008g0111 a0003c0004t0001g0314 a0001c0003t0008g0111 a0003c0004t0001g0314	2	402	0.0050	-12	c.197 others(27): Show c.197+428_197+439delATATTTTTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8242547	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0102 a0001c0003t0016g0102	1	402	0.0025	-12	c.197 others(27): Show c.197+426_197+437delATATATTTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8246965	CTTATTTA others(5): Show CTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00733.hp1 others(61): Show HG00558.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01952.hp1 HG01993.hp2 HG02004.hp1 HG02148.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18950.hp2 NA18952.hp2 NA18963.hp2 NA18967.hp2 NA18973.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19063.hp2 NA19085.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0013 a0014 a0017	a0001c0002 a0001c0003 a0002c0001 others(4): Show a0001c0002 a0001c0003 a0002c0001 a0008c0013 a0013c0017 a0014c0025 a0017c0014	a0001c0002t0003 a0001c0002t0012 a0001c0002t0031 others(12): Show a0001c0002t0003 a0001c0002t0012 a0001c0002t0031 a0001c0002t0032 a0001c0002t0043 a0001c0003t0005 a0001c0003t0008 a0001c0003t0015 a0001c0003t0016 a0002c0001t0014 a0002c0001t0035 a0008c0013t0005 a0013c0017t0003 a0014c0025t0021 a0017c0014t0033	a0001c0002t0003g0033 a0001c0002t0003g0095 a0001c0002t0003g0173 others(55): Show a0001c0002t0003g0033 a0001c0002t0003g0095 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0176 a0001c0002t0003g0177 a0001c0002t0003g0178 a0001c0002t0003g0179 a0001c0002t0003g0180 a0001c0002t0003g0181 a0001c0002t0003g0288 a0001c0002t0003g0289 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0304 a0001c0002t0012g0092 a0001c0002t0012g0093 a0001c0002t0012g0094 a0001c0002t0031g0297 a0001c0002t0032g0287 a0001c0002t0043g0303 a0001c0003t0005g0007 a0001c0003t0005g0013 a0001c0003t0005g0019 a0001c0003t0005g0097 a0001c0003t0005g0098 a0001c0003t0005g0099 a0001c0003t0005g0103 a0001c0003t0005g0104 a0001c0003t0005g0110 a0001c0003t0005g0112 a0001c0003t0005g0115 a0001c0003t0008g0020 a0001c0003t0008g0111 a0001c0003t0008g0116 a0001c0003t0015g0113 a0001c0003t0015g0114 a0001c0003t0016g0101 a0001c0003t0016g0102 a0002c0001t0014g0182 a0002c0001t0014g0305 a0002c0001t0014g0306 a0002c0001t0035g0307 a0008c0013t0005g0100 a0013c0017t0003g0096 a0014c0025t0021g0105 a0017c0014t0033g0313	64	402	0.1592	-12	c.33+ others(27): Show c.33+1027_33+1038delATAAATAAATAA	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	1/22			chr17	TogoVar
CTCFL_chr20_57492166_57530140	57494161	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01081.hp1 HG01192.hp1 others(4): Show HG00099.hp1 HG01081.hp1 HG01192.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0004 a0002c0002 a0003c0003 others(1): Show a0001c0004 a0002c0002 a0003c0003 a0017c0019	a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0017c0019t0015	a0001c0004t0001g0106 a0002c0002t0001g0040 a0002c0002t0001g0041 others(3): Show a0001c0004t0001g0106 a0002c0002t0001g0040 a0002c0002t0001g0041 a0003c0003t0001g0279 a0003c0003t0001g0280 a0017c0019t0015g0191	7	424	0.0165	-12	c.43 others(23): Show c.4377_*4388delCACACACACACA	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		3004		chr20	TogoVar
CTCFL_chr20_57492166_57530140	57494199	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	424	0.0024	-12	c.43 others(23): Show c.4339_*4350delTACACACACACA	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		2966		chr20	TogoVar
CTCFL_chr20_57492166_57530140	57494201	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01169.hp2 HG01433.hp2 others(9): Show HG00735.hp2 HG01169.hp2 HG01433.hp2 HG01884.hp1 HG01952.hp1 HG02559.hp2 HG03834.hp2 HG03927.hp1 NA18964.hp1 NA19030.hp2 NA19081.hp2 NA19240.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0016	a0001c0001 a0001c0004 a0003c0003 others(2): Show a0001c0001 a0001c0004 a0003c0003 a0008c0011 a0016c0020	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0004t0001 a0001c0004t0010 a0003c0003t0001 a0008c0011t0001 a0016c0020t0001	a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0005g0231 others(7): Show a0001c0001t0001g0101 a0001c0001t0001g0158 a0001c0001t0005g0231 a0001c0001t0010g0333 a0001c0004t0001g0245 a0001c0004t0010g0226 a0003c0003t0001g0013 a0003c0003t0001g0320 a0008c0011t0001g0169 a0016c0020t0001g0198	12	424	0.0283	-12	c.43 others(23): Show c.4337_*4348delTATACACACACA	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		2964		chr20	TogoVar
CTCFL_chr20_57492166_57530140	57494203	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp2 NA19240.hp2 HG01952.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0003c0003t0001 a0001c0004t0001 a0003c0003t0001	a0001c0004t0001g0250 a0003c0003t0001g0055 a0001c0004t0001g0250 a0003c0003t0001g0055	2	424	0.0047	-12	c.43 others(23): Show c.4335_*4346delTATATACACACA	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		2962		chr20	TogoVar
CTCF_chr16_67557526_67644177	67624071	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01192.hp2 others(6): Show HG00639.hp2 HG01074.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(6): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0126	9	168	0.0536	-12	c.135 others(31): Show c.1358-2450_1358-2439delGTGTGTGTGTGT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67624139	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	168	0.0060	-12	c.135 others(31): Show c.1358-2402_1358-2391delGTGTGTATATAT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67629746	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03209.hp1 HG03225.hp2 others(2): Show HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0132 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0132 a0001c0001t0006g0131 a0001c0001t0006g0135	5	168	0.0298	-12	c.183 others(29): Show c.1837+248_1837+259delTTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDNEP1_chr17_7238591_7256734	7254845	CTGCCAAG others(5): Show CTGCCAAGGAGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02976.hp1 others(3): Show HG02257.hp1 HG02630.hp2 HG02976.hp1 HG03209.hp2 HG03486.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	6	398	0.0151	-12	c.-35 others(23): Show c.-3561_-3550delCACTCCTTGGCA	CTDNEP1	ENSG00000175826.12	transcript	ENST00000574322.6	protein_coding		3112		chr17	TogoVar
CTDP1_chr18_79674803_79759503	79701529	TTAAATAA others(5): Show TTAAATAAATAAA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG01070.hp1 others(26): Show HG00423.hp2 HG00609.hp1 HG01070.hp1 HG01071.hp1 HG01255.hp1 HG01257.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG02083.hp2 HG02280.hp1 HG02300.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18952.hp2 NA18997.hp1 NA19009.hp1 NA19056.hp2 NA19070.hp1 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0007 a0001c0013 a0001c0014 others(4): Show a0001c0007 a0001c0013 a0001c0014 a0001c0022 a0001c0036 a0002c0002 a0004c0004	a0001c0007t0003 a0001c0007t0012 a0001c0013t0001 others(6): Show a0001c0007t0003 a0001c0007t0012 a0001c0013t0001 a0001c0013t0015 a0001c0014t0001 a0001c0022t0001 a0001c0036t0001 a0002c0002t0001 a0004c0004t0003	a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0346 others(25): Show a0001c0007t0003g0004 a0001c0007t0003g0345 a0001c0007t0003g0346 a0001c0007t0003g0348 a0001c0007t0003g0350 a0001c0007t0003g0351 a0001c0007t0003g0352 a0001c0007t0003g0354 a0001c0007t0003g0355 a0001c0007t0003g0356 a0001c0007t0003g0357 a0001c0007t0003g0358 a0001c0007t0003g0359 a0001c0007t0003g0360 a0001c0007t0003g0362 a0001c0007t0003g0363 a0001c0007t0003g0364 a0001c0007t0003g0365 a0001c0007t0012g0353 a0001c0013t0001g0091 a0001c0013t0001g0092 a0001c0013t0015g0197 a0001c0014t0001g0011 a0001c0014t0001g0012 a0001c0022t0001g0344 a0001c0036t0001g0013 a0002c0002t0001g0294 a0004c0004t0003g0338	29	378	0.0767	-12	c.622 others(29): Show c.622-3205_622-3194delTAAATAAATAAA	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
CTDSP1_chr2_218394868_218410941	218410480	CTGCCTGC others(5): Show CTGCCTGCCTTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	424	0.0024	-12	c.60 others(23): Show c.6056_*6067delTGCCTGCCTTGG	CTDSP1	ENSG00000144579.9	transcript	ENST00000273062.7	protein_coding		4540		chr2	TogoVar
CTDSP2_chr12_57814927_57851729	57832790	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp1 HG02723.hp1 others(1): Show HG01109.hp1 HG01884.hp1 HG02723.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0023 a0001c0001t0018g0124 a0001c0001t0001g0023 a0001c0001t0018g0124	4	346	0.0116	-12	c.65- others(27): Show c.65-3206_65-3195delTTTTTTTTTTTT	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding	1/7			chr12	TogoVar
CTDSP2_chr12_57814927_57851729	57850160	CACAAGGG others(5): Show CACAAGGGTACAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	346	0.0029	-12	c.-37 others(23): Show c.-3737_-3726delTTGTACCCTTGT	CTDSP2	ENSG00000175215.11	transcript	ENST00000398073.7	protein_coding		3432		chr12	TogoVar
CTDSPL2_chr15_44422629_44534038	44461573	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG01891.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0026 a0001c0001t0025 a0001c0001t0026	a0001c0001t0025g0025 a0001c0001t0026g0024 a0001c0001t0025g0025 a0001c0001t0026g0024	2	234	0.0086	-12	c.186 others(29): Show c.186+2386_186+2397delTTTTTTTTTTTT	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL2_chr15_44422629_44534038	44523388	CTACATAC others(5): Show CTACATACATACA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00741.hp2 others(27): Show HG00408.hp1 HG00597.hp1 HG00741.hp2 HG01081.hp2 HG01167.hp2 HG01256.hp1 HG01358.hp1 HG01928.hp2 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG03942.hp1 HG04228.hp2 NA18944.hp2 NA18952.hp2 NA18953.hp1 NA18962.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19074.hp2 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0001t0028	a0001c0001t0001g0037 a0001c0001t0001g0067 a0001c0001t0001g0073 others(27): Show a0001c0001t0001g0037 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0195 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0137 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0006g0084 a0001c0001t0006g0089 a0001c0001t0006g0094 a0001c0001t0006g0102 a0001c0001t0006g0113 a0001c0001t0006g0135 a0001c0001t0006g0138 a0001c0001t0015g0224 a0001c0001t0028g0100	30	234	0.1282	-12	c.133 others(29): Show c.1336-674_1336-663delCATACATACATA	CTDSPL2	ENSG00000137770.14	transcript	ENST00000260327.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CTDSPL_chr3_37856880_37989469	37904132	GCTGCCTG others(5): Show GCTGCCTGTCAGA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02451.hp2 others(6): Show HG00639.hp2 HG01884.hp1 HG02451.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03540.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0011g0164 a0001c0001t0011g0165 a0001c0001t0013g0160	9	166	0.0542	-12	c.79+ others(29): Show c.79+41860_79+41871delTGTCAGACTGCC	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTDSPL_chr3_37856880_37989469	37960497	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01261.hp1 NA18969.hp1 others(1): Show HG00423.hp2 HG01261.hp1 NA18969.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0040 others(1): Show a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0044	4	166	0.0241	-12	c.267 others(29): Show c.267+3356_267+3367delAAAAAAAATATA	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTDSPL_chr3_37856880_37989469	37960499	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp1 HG02818.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0002 a0001c0001t0002g0003	2	166	0.0121	-12	c.267 others(29): Show c.267+3358_267+3369delAAAAAATATATA	CTDSPL	ENSG00000144677.15	transcript	ENST00000273179.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr3	TogoVar

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