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
CSNK1A1_chr5_149487982_149556439	149552218	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	390	0.0026	-11	c.-12 others(22): Show c.-1265_-1255delTTTTTTTTTTT	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding		780		chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64198192	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	176	0.0057	-11	c.110 others(30): Show c.1107+4879_1107+4889delAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	10/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64199268	AAAAAGAA others(4): Show AAAAAGAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	176	0.0057	-11	c.110 others(30): Show c.1107+3803_1107+3813delCTTTTTCTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	10/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64203694	TAAAAAAA others(4): Show TAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	176	0.0057	-11	c.100 others(28): Show c.1000-516_1000-506delTTTTTTTTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	9/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64229902	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0094 a0001c0003t0001g0094	1	176	0.0057	-11	c.293 others(30): Show c.293-13200_293-13190delAAAAAAAAAAA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	4/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64310530	ATGTGGTG others(4): Show ATGTGGTGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp2 HG02886.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0036 a0001c0004t0035 a0001c0001t0036 a0001c0004t0035	a0001c0001t0036g0117 a0001c0004t0035g0118 a0001c0001t0036g0117 a0001c0004t0035g0118	2	176	0.0114	-11	c.-22 others(30): Show c.-224-9818_-224-9808delGTCTCACCACA	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64326818	CACCGTGC others(4): Show CACCGTGCGCGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG02818.hp1 others(2): Show HG02055.hp1 HG02809.hp1 HG02818.hp1 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0031 a0001c0001t0009 a0001c0001t0031	a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 others(2): Show a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0009g0005 a0001c0001t0031g0124	5	176	0.0284	-11	c.-22 others(32): Show c.-224-26106_-224-26096delTCGCGCACGGT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64333433	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0174 a0001c0001t0005g0174	1	176	0.0057	-11	c.-22 others(32): Show c.-225+22544_-225+22554delTTTTTTTTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK1G1_chr15_64160525_64361173	64338700	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0062 a0001c0002t0027g0062	1	176	0.0057	-11	c.-22 others(32): Show c.-225+17277_-225+17287delTTTTTTTTTTT	CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11			chr15	TogoVar
CSNK2A1_chr20_467498_548790	485066	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0085 a0001c0001t0006g0085	1	316	0.0032	-11	c.106 others(29): Show c.1061-1001_1061-991delTTTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485100	AAAAAAAA others(4): Show AAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0274 a0001c0001t0006g0274	1	316	0.0032	-11	c.106 others(30): Show c.1061-1035_1061-1025delATTTTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485102	AAAAAAAA others(4): Show AAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18941.hp2 HG02602.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0075 a0001c0001t0001 a0001c0001t0075	a0001c0001t0001g0316 a0001c0001t0075g0090 a0001c0001t0001g0316 a0001c0001t0075g0090	2	316	0.0063	-11	c.106 others(30): Show c.1061-1037_1061-1027delATATTTTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485104	AAAAAAAT others(4): Show AAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18998.hp2 NA18986.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0065 a0001c0001t0002g0047 a0001c0001t0002g0065	2	316	0.0063	-11	c.106 others(30): Show c.1061-1039_1061-1029delATATATTTTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	485106	AAAAATAT others(4): Show AAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0211 a0001c0001t0054g0211	1	316	0.0032	-11	c.106 others(30): Show c.1061-1041_1061-1031delATATATATTTT	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	13/13			chr20	TogoVar
CSNK2A1_chr20_467498_548790	500634	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01106.hp2 others(19): Show HG00408.hp1 HG00558.hp1 HG01106.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01943.hp1 HG01978.hp1 HG02165.hp1 HG02602.hp1 HG02630.hp2 HG03041.hp2 HG03471.hp2 HG03688.hp1 HG03704.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp2 NA18975.hp1 NA18993.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0010 a0001c0001t0038 others(6): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0038 a0001c0001t0039 a0001c0001t0078 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0094	a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0013 others(19): Show a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0013 a0001c0001t0008g0015 a0001c0001t0008g0020 a0001c0001t0008g0021 a0001c0001t0008g0289 a0001c0001t0008g0294 a0001c0001t0010g0304 a0001c0001t0010g0305 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0010g0309 a0001c0001t0038g0017 a0001c0001t0038g0018 a0001c0001t0039g0012 a0001c0001t0039g0266 a0001c0001t0078g0310 a0001c0001t0090g0303 a0001c0001t0091g0008 a0001c0001t0092g0011 a0001c0001t0094g0014	22	316	0.0696	-11	c.214 others(26): Show c.214-711_214-701delAAAAAAAAAAA	CSNK2A1	ENSG00000101266.19	transcript	ENST00000217244.9	protein_coding	4/13			chr20	TogoVar
CSNK2A2_chr16_58152907_58203106	58188955	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19063.hp1 NA19084.hp1 HG00423.hp2 NA19063.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238	3	400	0.0075	-11	c.217 others(28): Show c.217-2110_217-2100delAAAAAAAAAAA	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding	2/11			chr16	TogoVar
CSNK2A2_chr16_58152907_58203106	58198227	GCCGGCCC others(4): Show GCCGGCCCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19077.hp1 NA19081.hp1 NA18951.hp1 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0002 a0001c0001t0001g0115	3	400	0.0075	-11	c.-50 others(20): Show c.-502_-492delGGCGGGGCCGG	CSNK2A2	ENSG00000070770.10	transcript	ENST00000262506.8	protein_coding		122		chr16	TogoVar
CSNKA2IP_chr3_88333456_88472594	88463967	CATGATAA others(4): Show CATGATAATAAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0029 a0016c0016t0001g0029	1	386	0.0026	-11	c.-27 others(30): Show c.-270-1119_-270-1109delTGATAATAATA	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSPG5_chr3_47557238_47583865	47578309	AGGCCCCG others(4): Show AGGCCCCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	362	0.0028	-11	c.97+ others(24): Show c.97+277_97+287delGGGGCGGGGCC	CSPG5	ENSG00000114646.10	transcript	ENST00000264723.9	protein_coding	1/4			chr3	TogoVar
CSPP1_chr8_67059392_67201614	67174386	AGTGTAAT others(4): Show AGTGTAATTAGT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	158	0.0063	-11	c.296 others(28): Show c.2969-908_2969-898delTGTAATTAGTG	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	25/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67177070	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0012 a0002c0004t0003g0012	1	158	0.0063	-11	c.311 others(28): Show c.3110-597_3110-587delAAAAAAAAAAA	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	26/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSPP1_chr8_67059392_67201614	67181338	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0008 a0001c0009t0001g0008	1	158	0.0063	-11	c.322 others(30): Show c.3220+1425_3220+1435delTTTTTTTTTTT	CSPP1	ENSG00000104218.16	transcript	ENST00000678616.1	protein_coding	28/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
CSRNP2_chr12_51056205_51088596	51072562	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(105): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02080.hp1 HG02109.hp2 HG02148.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18977.hp2 NA18986.hp1 NA18987.hp1 NA18991.hp2 NA18998.hp1 NA19003.hp2 NA19011.hp2 NA19012.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0005 a0001c0001 a0001c0009 a0004c0005	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(8): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0009t0002 a0004c0005t0002	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(73): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0182 a0001c0001t0002g0201 a0001c0001t0002g0271 a0001c0001t0002g0289 a0001c0001t0011g0119 a0001c0001t0011g0125 a0001c0001t0012g0116 a0001c0001t0012g0126 a0001c0001t0013g0290 a0001c0001t0013g0291 a0001c0001t0016g0109 a0001c0001t0017g0152 a0001c0001t0021g0124 a0001c0001t0028g0153 a0001c0001t0030g0293 a0001c0009t0002g0161 a0004c0005t0002g0035 a0004c0005t0002g0137	108	420	0.2571	-11	c.411 others(28): Show c.411+1250_411+1260delTTTTTTTTTTT	CSRNP2	ENSG00000110925.7	transcript	ENST00000228515.6	protein_coding	3/4			chr12	TogoVar
CSRNP3_chr2_165464698_165694407	165520771	TATATATA others(4): Show TATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0191 a0002c0003t0010g0191	1	246	0.0041	-11	c.-24 others(28): Show c.-24+2811_-24+2821delATATATATATA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6			chr2	TogoVar
CSRP1_chr1_201478530_201512123	201480670	CGGCTGAG others(4): Show CGGCTGAGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02970.hp2 others(1): Show HG02451.hp1 HG02559.hp1 HG02970.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0026 a0001c0001t0001g0053	4	432	0.0093	-11	c.40 others(22): Show c.4032_*4042delCGGGCTCAGCC	CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding		2859		chr1	TogoVar
CSRP1_chr1_201478530_201512123	201482273	GCCCCAAA others(4): Show GCCCCAAAGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	432	0.0023	-11	c.24 others(22): Show c.2429_*2439delAGCCTTTGGGG	CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding		1256		chr1	TogoVar
CST9L_chr20_23559732_23573484	23560975	CCTTCCTT others(4): Show CCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	392	0.0026	-11	c.39 others(22): Show c.3962_*3972delAAGGAAGGAAG	CST9L	ENSG00000101435.5	transcript	ENST00000376979.4	protein_coding		3756		chr20	TogoVar
CSTA_chr3_122320248_122346969	122333652	GAAAGGAA others(4): Show GAAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	378	0.0027	-11	c.67- others(26): Show c.67-3883_67-3873delAAAGGAAGAAA	CSTA	ENSG00000121552.4	transcript	ENST00000264474.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSTF3_chr11_33079584_33166480	33115587	GTGACAAA others(4): Show GTGACAAATAAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(256): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0003t0002	a0001c0001t0001g0021 a0001c0001t0001g0194 a0001c0001t0001g0195 others(232): Show a0001c0001t0001g0021 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0258 a0001c0001t0001g0283 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0173 a0001c0001t0002g0189 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0028 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0005g0022 a0001c0001t0006g0174 a0001c0002t0002g0008 a0001c0002t0002g0118 a0001c0003t0002g0014 a0001c0003t0002g0024	259	360	0.7194	-11	c.226 others(28): Show c.226-7180_226-7170delATTATTTGTCA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	3/20			chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163923	ATATTTTT others(4): Show ATATTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	360	0.0028	-11	c.-26 others(22): Show c.-2609_-2599delAAAAAAAAATA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2444		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163925	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01981.hp2 HG02273.hp1 others(4): Show HG01074.hp2 HG01981.hp2 HG02273.hp1 HG02683.hp1 NA19060.hp1 NA19083.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0058 others(4): Show a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0099	7	360	0.0194	-11	c.-26 others(22): Show c.-2611_-2601delAAAAAAAAAAA	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		2446		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33166259	CAATTATG others(4): Show CAATTATGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	360	0.0028	-11	c.-49 others(22): Show c.-4945_-4935delCACACATAATT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding		4780		chr11	TogoVar
CSTPP1_chr11_46931761_47167247	46999222	AATAATAA others(4): Show AATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	224	0.0045	-11	c.149 others(30): Show c.149+11921_149+11931delAATATAATAAT	CSTPP1	ENSG00000149179.14	transcript	ENST00000278460.12	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
CS_chr12_56266699_56305330	56287479	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18963.hp1 HG00738.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0227 a0001c0001t0001g0145 a0001c0001t0001g0227	2	316	0.0063	-11	c.43- others(24): Show c.43-845_43-835delTTTTTTTTTTT	CS	ENSG00000062485.19	transcript	ENST00000351328.8	protein_coding	1/10			chr12	TogoVar
CT45A8_chrX_135841497_135859538	135855686	AAAGAAAG others(4): Show AAAGAAAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	8	0.1250	-11	c.-14 others(22): Show c.-1404_-1394delCTCTCTTTCTT	CT45A8	ENSG00000278085.5	transcript	ENST00000611660.5	protein_coding		1149		chrX	TogoVar
CT55_chrX_135151540_135176398	135166036	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03688.hp1 HG02486.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0001g0068 a0001c0001t0001g0100	2	270	0.0074	-11	c.279 others(28): Show c.279+3547_279+3557delTTTTTTTTTTT	CT55	ENSG00000169551.13	transcript	ENST00000276241.11	protein_coding	2/5			chrX	TogoVar
CTAGE15_chr7_143566801_143579387	143570135	TGTACCAT others(4): Show TGTACCATATGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0000 a0011c0012t0001g0000	1	220	0.0046	-11	c.-16 others(22): Show c.-1682_-1672delGTACCATATGG	CTAGE15	ENSG00000271079.1	transcript	ENST00000420911.2	protein_coding		1665		chr7	TogoVar
CTAGE6_chr7_143750089_143762696	143751028	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18976.hp2 NA18985.hp2 others(1): Show HG00558.hp2 NA18976.hp2 NA18985.hp2 NA19078.hp2	a0010 a0044 a0010 a0044	a0010c0011 a0010c0042 a0044c0045 a0010c0011 a0010c0042 a0044c0045	a0010c0011t0003 a0010c0042t0003 a0044c0045t0003 a0010c0011t0003 a0010c0042t0003 a0044c0045t0003	a0010c0011t0003g0000 a0010c0042t0003g0000 a0044c0045t0003g0000 a0010c0011t0003g0000 a0010c0042t0003g0000 a0044c0045t0003g0000	4	190	0.0211	-11	c.42 others(22): Show c.4286_*4296delTTTTTTTTTTT	CTAGE6	ENSG00000271321.1	transcript	ENST00000470691.2	protein_coding		4060		chr7	TogoVar
CTBP1_chr4_1206445_1254130	1227390	CGTGTTCT others(4): Show CGTGTTCTGTGT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	422	0.0024	-11	c.307 others(26): Show c.307+798_307+808delACACAGAACAC	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	4/9			chr4	TogoVar
CTBS_chr1_84544611_84579440	84560098	AAAGAAAG others(4): Show AAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18967.hp1 NA19079.hp2 HG02965.hp2 NA18967.hp1 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0002c0003t0007 a0001c0002t0003 a0002c0003t0007	a0001c0002t0003g0125 a0001c0002t0003g0126 a0002c0003t0007g0054 a0001c0002t0003g0125 a0001c0002t0003g0126 a0002c0003t0007g0054	3	340	0.0088	-11	c.957 others(28): Show c.957+3148_957+3158delCTTTCTTTCTT	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding	6/6			chr1	TogoVar
CTBS_chr1_84544611_84579440	84577506	CTCCATGT others(4): Show CTCCATGTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00609.hp1 HG00621.hp1 others(35): Show HG00280.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01993.hp1 HG02300.hp1 HG02451.hp1 HG02615.hp1 HG02630.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG04115.hp1 HG04228.hp1 NA18980.hp1 NA18994.hp2 NA19077.hp2 NA19090.hp2 NA21309.hp1 NA21309.hp2	a0003 a0006 a0011 a0003 a0006 a0011	a0003c0004 a0006c0011 a0006c0021 others(1): Show a0003c0004 a0006c0011 a0006c0021 a0011c0016	a0003c0004t0002 a0003c0004t0009 a0003c0004t0024 others(4): Show a0003c0004t0002 a0003c0004t0009 a0003c0004t0024 a0006c0011t0002 a0006c0011t0003 a0006c0021t0006 a0011c0016t0002	a0003c0004t0002g0006 a0003c0004t0002g0013 a0003c0004t0002g0045 others(16): Show a0003c0004t0002g0006 a0003c0004t0002g0013 a0003c0004t0002g0045 a0003c0004t0002g0128 a0003c0004t0002g0129 a0003c0004t0002g0131 a0003c0004t0002g0132 a0003c0004t0002g0134 a0003c0004t0002g0135 a0003c0004t0002g0136 a0003c0004t0002g0137 a0003c0004t0009g0017 a0003c0004t0009g0133 a0003c0004t0024g0138 a0006c0011t0002g0127 a0006c0011t0002g0130 a0006c0011t0003g0139 a0006c0021t0006g0140 a0011c0016t0002g0060	38	340	0.1118	-11	c.-31 others(22): Show c.-3102_-3092delAGGGACATGGA	CTBS	ENSG00000117151.13	transcript	ENST00000370630.6	protein_coding		3067		chr1	TogoVar
CTC1_chr17_8219815_8253056	8237665	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02109.hp1 others(10): Show HG01109.hp1 HG01891.hp2 HG02109.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02922.hp2 HG03195.hp2 HG03486.hp1 HG03486.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0039 a0001c0002t0004 a0001c0002t0039	a0001c0002t0004g0025 a0001c0002t0004g0123 a0001c0002t0004g0134 others(9): Show a0001c0002t0004g0025 a0001c0002t0004g0123 a0001c0002t0004g0134 a0001c0002t0004g0135 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0197 a0001c0002t0004g0201 a0001c0002t0039g0188	13	402	0.0323	-11	c.648 others(26): Show c.648-157_648-147delTTTTTTTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	4/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8242531	GAGAAAAA others(4): Show GAGAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(96): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02572.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG03490.hp1 HG03492.hp2 HG03831.hp2 HG04184.hp2 HG04204.hp1 NA18612.hp2 NA18939.hp2 NA18940.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0002 a0002c0001 a0002c0010 others(4): Show a0001c0002 a0002c0001 a0002c0010 a0002c0012 a0003c0005 a0005c0008 a0005c0009	a0001c0002t0004 a0002c0001t0002 a0002c0001t0017 others(10): Show a0001c0002t0004 a0002c0001t0002 a0002c0001t0017 a0002c0001t0022 a0002c0001t0025 a0002c0001t0026 a0002c0001t0027 a0002c0010t0002 a0002c0012t0002 a0003c0005t0002 a0005c0008t0001 a0005c0009t0001 a0005c0009t0036	a0001c0002t0004g0053 a0002c0001t0002g0001 a0002c0001t0002g0002 others(52): Show a0001c0002t0004g0053 a0002c0001t0002g0001 a0002c0001t0002g0002 a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0016 a0002c0001t0002g0017 a0002c0001t0002g0018 a0002c0001t0002g0040 a0002c0001t0002g0047 a0002c0001t0002g0049 a0002c0001t0002g0052 a0002c0001t0002g0054 a0002c0001t0002g0055 a0002c0001t0002g0056 a0002c0001t0002g0057 a0002c0001t0002g0058 a0002c0001t0002g0061 a0002c0001t0002g0062 a0002c0001t0002g0072 a0002c0001t0002g0073 a0002c0001t0002g0074 a0002c0001t0002g0077 a0002c0001t0002g0079 a0002c0001t0002g0081 a0002c0001t0002g0082 a0002c0001t0002g0083 a0002c0001t0002g0084 a0002c0001t0002g0085 a0002c0001t0002g0087 a0002c0001t0002g0088 a0002c0001t0002g0089 a0002c0001t0002g0090 a0002c0001t0017g0048 a0002c0001t0017g0080 a0002c0001t0022g0075 a0002c0001t0025g0078 a0002c0001t0026g0076 a0002c0001t0027g0051 a0002c0010t0002g0050 a0002c0010t0002g0059 a0002c0012t0002g0068 a0003c0005t0002g0004 a0003c0005t0002g0063 a0003c0005t0002g0064 a0003c0005t0002g0065 a0003c0005t0002g0066 a0003c0005t0002g0067 a0003c0005t0002g0091 a0005c0008t0001g0043 a0005c0008t0001g0046 a0005c0008t0001g0086 a0005c0009t0001g0042 a0005c0009t0001g0044 a0005c0009t0036g0045	99	402	0.2463	-11	c.197 others(26): Show c.197+443_197+453delTTTTTTTTTCT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTC1_chr17_8219815_8253056	8242548	AAAAAAAT others(4): Show AAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG02486.hp1 HG03209.hp2 HG03225.hp2 NA20300.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0009 a0006c0007t0009	a0006c0007t0009g0109 a0006c0007t0009g0118 a0006c0007t0009g0119 others(1): Show a0006c0007t0009g0109 a0006c0007t0009g0118 a0006c0007t0009g0119 a0006c0007t0009g0120	4	402	0.0100	-11	c.197 others(26): Show c.197+426_197+436delATATATTTTTT	CTC1	ENSG00000178971.17	transcript	ENST00000651323.1	protein_coding	2/22			chr17	TogoVar
CTCFL_chr20_57492166_57530140	57494160	TTTGTGTG others(4): Show TTTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	424	0.0024	-11	c.43 others(22): Show c.4379_*4389delCACACACACAA	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		3005		chr20	TogoVar
CTCFL_chr20_57492166_57530140	57523638	GGTTGTTT others(4): Show GGTTGTTTATTA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	424	0.0024	-11	c.543 others(24): Show c.543+14_543+24delTAATAAACAAC	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding	2/10			chr20	TogoVar
CTCFL_chr20_57492166_57530140	57528559	CTGAGTTA others(4): Show CTGAGTTAAATT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0006 a0007c0010t0006	a0007c0010t0006g0059 a0007c0010t0006g0059	1	424	0.0024	-11	c.-35 others(22): Show c.-3554_-3544delAATTTAACTCA	CTCFL	ENSG00000124092.13	transcript	ENST00000243914.8	protein_coding		3420		chr20	TogoVar
CTCF_chr16_67557526_67644177	67626452	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0142 a0001c0002t0003g0142	1	168	0.0060	-11	c.135 others(26): Show c.1358-92_1358-82delAAAAAAAAAAA	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTCF_chr16_67557526_67644177	67629746	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	168	0.0060	-11	c.183 others(28): Show c.1837+249_1837+259delTTTTTTTTTTT	CTCF	ENSG00000102974.16	transcript	ENST00000264010.10	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CTDP1_chr18_79674803_79759503	79691939	CCAGGGTG others(4): Show CCAGGGTGGACT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18972.hp1 NA18942.hp2 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0140 a0001c0001t0002g0141	2	378	0.0053	-11	c.315 others(28): Show c.315-3284_315-3274delAGGGTGGACTC	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar

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