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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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
CAPZA2_chr7_116857587_116927049	116890561	TATATATA others(31): Show TATATATACACATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	354	0.0028	-38	c.103 others(55): Show c.103+2373_104-2394delTATATACACATATATATATATATATATA TATATATACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19461275	GCCTCAGC others(31): Show GCCTCAGCATAGGTCACTGTTGCTTTGCAAACTGGCAAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG02040.hp2 others(18): Show HG00408.hp1 HG00597.hp1 HG02040.hp2 HG02074.hp1 HG02083.hp2 HG02155.hp1 HG03669.hp2 HG04228.hp1 NA18942.hp2 NA18943.hp2 NA18955.hp2 NA18974.hp1 NA18980.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp1 NA19011.hp2 NA19065.hp1 NA19070.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0006t0003	a0001c0001t0001g0103 a0001c0002t0001g0098 a0001c0002t0002g0279 others(18): Show a0001c0001t0001g0103 a0001c0002t0001g0098 a0001c0002t0002g0279 a0001c0002t0002g0352 a0001c0002t0002g0361 a0001c0002t0003g0143 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0351 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0003g0359 a0001c0002t0003g0362 a0001c0006t0003g0099	21	364	0.0577	-38	c.3+2 others(53): Show c.3+24123_3+24160delGTTGCCAGTTTGCAAAGCAACAGTGACCTA TGCTGAGG	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar
CARS2_chr13_110636417_110711116	110662181	CCATGCAA others(31): Show CCATGCAACCCCATGGTCGGGTTCGGACCCCCTCTGCGT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01891.hp1 HG02258.hp1 others(2): Show HG01192.hp2 HG01891.hp1 HG02258.hp1 HG02922.hp1 NA18906.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0018 a0001c0002 a0010c0018	a0001c0002t0001 a0001c0002t0003 a0010c0018t0002 a0001c0002t0001 a0001c0002t0003 a0010c0018t0002	a0001c0002t0001g0265 a0001c0002t0003g0268 a0001c0002t0003g0269 others(2): Show a0001c0002t0001g0265 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0003g0270 a0010c0018t0002g0266	5	372	0.0134	-38	c.987 others(55): Show c.987+1232_987+1269delACGCAGAGGGGGTCCGAACCCGACCATG GGGTTGCATG	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110662194	TGGTCGGG others(31): Show TGGTCGGGTTCGGACCCCCTCTGCGTCATGCAACCCCAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG00738.hp1 others(77): Show HG00609.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG04204.hp1 NA18522.hp1 NA18941.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18984.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19074.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0011 a0016	a0001c0002 a0001c0007 a0001c0019 others(6): Show a0001c0002 a0001c0007 a0001c0019 a0001c0020 a0003c0011 a0004c0012 a0007c0014 a0011c0017 a0016c0021	a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0007t0001 a0001c0019t0001 a0001c0020t0002 a0003c0011t0002 a0004c0012t0002 a0004c0012t0004 a0007c0014t0002 a0011c0017t0002 a0016c0021t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 others(69): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0072 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0224 a0001c0002t0001g0233 a0001c0002t0002g0017 a0001c0002t0002g0020 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0248 a0001c0002t0002g0254 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0007t0001g0192 a0001c0019t0001g0208 a0001c0020t0002g0303 a0003c0011t0002g0243 a0003c0011t0002g0255 a0003c0011t0002g0256 a0004c0012t0002g0263 a0004c0012t0002g0264 a0004c0012t0004g0262 a0007c0014t0002g0252 a0007c0014t0002g0253 a0011c0017t0002g0267 a0016c0021t0001g0206	80	372	0.2151	-38	c.987 others(55): Show c.987+1219_987+1256delGTGGGGTTGCATGACGCAGAGGGGGTCC GAACCCGACC	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	9/14			chr13	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	164	0.0061	-38	c.172 others(57): Show c.172+23381_172+23418delATATATATATATATATATATATATAT ATATATATATAT	CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26			chrX	TogoVar
CASP7_chr10_113674912_113735905	113678816	GTTGTGGG others(31): Show GTTGTGGGGTCAGGGTGAACTGGAATGCCTGTGTATGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	406	0.0025	-38	c.-11 others(49): Show c.-1162_-1125delTTGTGGGGTCAGGGTGAACTGGAATGCCTGTGTA TGTC	CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding		1095		chr10	TogoVar
CATSPERD_chr19_5715637_5783734	5780159	AAAAATAC others(31): Show AAAAATACATATATATAAATACATATATAAATATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	336	0.0030	-38	c.14 others(49): Show c.1484_*1521delAAAATACATATATATAAATACATATATAAATATA TATT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding		1426		chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244557532	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG03540.hp1 HG02280.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0132 a0001c0006t0002g0084 a0001c0006t0002g0085 a0001c0001t0001g0132 a0001c0006t0002g0084 a0001c0006t0002g0085	3	206	0.0146	-38	c.103 others(57): Show c.1030-3122_1030-3085delTATATATATATATATATATATATATA TATATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244582910	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0088 a0001c0002t0001g0088	1	206	0.0049	-38	c.201 others(55): Show c.2010-924_2010-887delTATATATATATATATATATATATATATA TATATATATA	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116555508	GAAAGAAA others(31): Show GAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03239.hp1 HG03239.hp2 others(1): Show HG02257.hp2 HG03239.hp1 HG03239.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0083 a0001c0001t0005g0300 a0001c0001t0005g0303 others(1): Show a0001c0001t0004g0083 a0001c0001t0005g0300 a0001c0001t0005g0303 a0001c0001t0005g0321	4	342	0.0117	-38	c.196 others(55): Show c.196-3436_196-3399delAAGAAAGAAAGAGAGAGAGAGAGAGAGA GAGAGAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555512	GAAAGAAA others(31): Show GAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0186 a0001c0001t0004g0186	1	342	0.0029	-38	c.196 others(55): Show c.196-3432_196-3395delAAGAAAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T2_chr20_33485096_33655030	33643753	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp2 HG02818.hp1 others(3): Show HG01074.hp1 HG02486.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0001t0030 a0001c0002t0002 a0001c0001t0011 a0001c0001t0030 a0001c0002t0002	a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0064 others(3): Show a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0011g0064 a0001c0001t0011g0066 a0001c0001t0030g0001 a0001c0002t0002g0207	6	298	0.0201	-38	c.148 others(55): Show c.1489-567_1489-530delTATATATATATATATATATATATATATA TATATATATA	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88955071	GCTCCTGA others(31): Show GCTCCTGACCCCACCCAAGGCTCCTGACCTCAGCCAAGA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0007 a0001c0003t0011g0007	1	284	0.0035	-38	c.151 others(57): Show c.151+21548_151+21585delTCTTGGCTGAGGTCAGGAGCCTTGGG TGGGGTCAGGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955330	GCCCAAGG others(31): Show GCCCAAGGCTCCTGACCTCACCCAAGGCTCCTGACTCCA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03239.hp1 HG00280.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0269 a0001c0001t0001g0011 a0001c0001t0001g0269	2	284	0.0070	-38	c.151 others(57): Show c.151+21289_151+21326delTGGAGTCAGGAGCCTTGGGTGAGGTC AGGAGCCTTGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955451	ACTCCTGA others(31): Show ACTCCTGACCCCACCCAAGGCTCCTGACCCCACCCAAGG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0167 a0001c0008t0014g0167	1	284	0.0035	-38	c.151 others(57): Show c.151+21168_151+21205delCCTTGGGTGGGGTCAGGAGCCTTGGG TGGGGTCAGGAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955595	CACCCAAG others(31): Show CACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp2 others(22): Show HG00408.hp1 HG00408.hp2 HG00733.hp2 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG02523.hp1 HG02622.hp1 HG02738.hp1 HG02738.hp2 HG03017.hp2 HG03209.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0021 a0001c0001 a0001c0015 a0001c0021	a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 others(2): Show a0001c0001t0001 a0001c0001t0013 a0001c0001t0018 a0001c0015t0007 a0001c0021t0011	a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0043 others(22): Show a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0013g0001 a0001c0001t0018g0261 a0001c0015t0007g0115 a0001c0021t0011g0077	25	284	0.0880	-38	c.151 others(57): Show c.151+21024_151+21061delAGGGTCAGGAGCCTTGGGTGGGGTCA GGAGCCTTGGGT	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955632	CTACCCAA others(31): Show CTACCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	284	0.0035	-38	c.151 others(57): Show c.151+20987_151+21024delAGGTCAGGAGCCTTGGGTGGGGTCAG GAGCCTTGGGTA	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955749	CCCAAGGC others(31): Show CCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	284	0.0035	-38	c.151 others(57): Show c.151+20870_151+20907delCTGAGGTCAGGAGCCTTGGGTGGGGT CAGGAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88955787	GCCAAGGC others(31): Show GCCAAGGCTCCTGACCCCACCCAAGGCTCCTGACCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0099 a0001c0001t0025g0099	1	284	0.0035	-38	c.151 others(57): Show c.151+20832_151+20869delGTGAGGTCAGGAGCCTTGGGTGGGGT CAGGAGCCTTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBX1_chr17_48065059_48106478	48095930	GAGTACAG others(31): Show GAGTACAGTGGTGCAATCTCGGCTCCCTGCAACCTCCGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	396	0.0025	-38	c.-38 others(55): Show c.-38+5300_-38+5337delGCGGAGGTTGCAGGGAGCCGAGATTGCA CCACTGTACT	CBX1	ENSG00000108468.15	transcript	ENST00000225603.9	protein_coding	1/4			chr17	TogoVar
CBX2_chr17_79773148_79792983	79773180	TTGGACAG others(31): Show TTGGACAGATCTTTACACTTTCCCACCAAAAAGCAACAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	466	0.0022	-38	c.-50 others(49): Show c.-5055_-5018delTGGACAGATCTTTACACTTTCCCACCAAAAAGCA ACAG	CBX2	ENSG00000173894.11	transcript	ENST00000310942.9	protein_coding		4967		chr17	TogoVar
CBX7_chr22_39125772_39157680	39156705	CCAGATCA others(31): Show CCAGATCACATTGCAAGATGACTCGCCATGGAGGATGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	380	0.0026	-38	c.-42 others(49): Show c.-4299_-4262delCTCATCCTCCATGGCGAGTCATCTTGCAATGTGA TCTG	CBX7	ENSG00000100307.13	transcript	ENST00000216133.10	protein_coding		4026		chr22	TogoVar
CC2D2A_chr4_15464882_15606552	15470683	CTCTCTCT others(31): Show CTCTCTCTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	344	0.0029	-38	c.-19 others(53): Show c.-19+628_-19+665delCTCTCTATATATATATATATATATATATAT ATATATAT	CC2D2A	ENSG00000048342.18	transcript	ENST00000424120.6	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
CC2D2B_chr10_95902975_96038745	95993932	GTGTGTGT others(31): Show GTGTGTGTGTGTATGTATGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	312	0.0032	-38	c.264 others(57): Show c.2642+1237_2642+1274delGTGTGTGTGTATGTATGTGTATATAT ATATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	95993934	GTGTGTGT others(31): Show GTGTGTGTGTATGTATGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	312	0.0032	-38	c.264 others(57): Show c.2642+1239_2642+1276delGTGTGTGTATGTATGTGTATATATAT ATATATATATAT	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CC2D2B_chr10_95902975_96038745	96031142	ACAGGACA others(31): Show ACAGGACAGATACAGTCTTGTACATCTGCAGAGATTATG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	312	0.0032	-38	c.412 others(55): Show c.4126-677_4126-640delCAGGACAGATACAGTCTTGTACATCTGC AGAGATTATG	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	34/34			chr10	TogoVar
CCBE1_chr18_59425939_59702423	59658344	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	242	0.0041	-38	c.212 others(57): Show c.212+38247_212+38284delATATATATATATATATATATATATAT ATTTTTTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658350	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0152 a0001c0001t0057g0152	1	242	0.0041	-38	c.212 others(57): Show c.212+38241_212+38278delATATATATATATATATATATATATAT ATATATATTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCDC127_chr5_191868_223153	200868	CAGCCAGC others(31): Show CAGCCAGCGTCTACACAGCAGGCTGCCCCCATCACAGCT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0171 a0001c0001t0171	a0001c0001t0171g0049 a0001c0001t0171g0049	1	406	0.0025	-38	c.43 others(49): Show c.4391_*4428delAGCTGTGATGGGGGCAGCCTGCTGTGTAGACGCT GGCT	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	3/3	4391		chr5	TogoVar
CCDC127_chr5_191868_223153	200906	TAGCCAGC others(31): Show TAGCCAGCGTCTACACAGCAGGCTGCCCCCATCACAGCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02809.hp2 NA18906.hp1 HG02109.hp1 HG02809.hp2 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0189 a0001c0003t0190 a0001c0003t0191 a0001c0003t0189 a0001c0003t0190 a0001c0003t0191	a0001c0003t0189g0253 a0001c0003t0190g0255 a0001c0003t0191g0252 a0001c0003t0189g0253 a0001c0003t0190g0255 a0001c0003t0191g0252	3	406	0.0074	-38	c.43 others(49): Show c.4353_*4390delGGCTGTGATGGGGGCAGCCTGCTGTGTAGACGCT GGCT	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	3/3	4353		chr5	TogoVar
CCDC127_chr5_191868_223153	200985	CGTCTACA others(31): Show CGTCTACACAGCAGGCTGCCCCCATCACAGCCAGCCAGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0151 a0001c0001t0151	a0001c0001t0151g0108 a0001c0001t0151g0108	1	406	0.0025	-38	c.42 others(49): Show c.4274_*4311delACTGGCTGGCTGTGATGGGGGCAGCCTGCTGTGT AGAC	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	3/3	4274		chr5	TogoVar
CCDC47_chr17_63740255_63778597	63759508	AATATATA others(31): Show AATATATATATATATATATTTATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02486.hp1 HG03471.hp2 others(2): Show HG00639.hp1 HG02486.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0132 a0001c0001t0003g0162 a0001c0001t0003g0163 others(2): Show a0001c0001t0001g0132 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0176 a0001c0001t0003g0177	5	352	0.0142	-38	c.735 others(55): Show c.735+1368_735+1405delATATATATATATATATATAAATATATAT ATATATATAT	CCDC47	ENSG00000108588.15	transcript	ENST00000225726.10	protein_coding	6/12			chr17	TogoVar
CCDC50_chr3_191324394_191403659	191356266	CTTGGGGT others(31): Show CTTGGGGTAAACATGGATACCATTGTTTACCCCAAACCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0020 a0006c0009t0020	a0006c0009t0020g0324 a0006c0009t0020g0324	1	406	0.0025	-38	c.50- others(51): Show c.50-819_50-782delGGGGTAAACATGGATACCATTGTTTACCCCAA ACCATT	CCDC50	ENSG00000152492.15	transcript	ENST00000392455.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCDC60_chr12_119329729_119546040	119507553	TATATATA others(31): Show TATATATATATATATATGTATATATACACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp2 HG02145.hp1 others(8): Show HG01884.hp2 HG01934.hp2 HG02145.hp1 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02886.hp1 HG03453.hp2 HG03486.hp1 HG03710.hp2 NA19043.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0009c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0006c0006t0003 a0009c0010t0001	a0001c0001t0001g0038 a0001c0001t0001g0174 a0001c0001t0001g0176 others(8): Show a0001c0001t0001g0038 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0235 a0002c0002t0001g0179 a0002c0002t0002g0149 a0002c0002t0004g0086 a0006c0006t0003g0039 a0006c0006t0003g0173 a0009c0010t0001g0073	11	256	0.0430	-38	c.883 others(55): Show c.883+2267_883+2304delGTATATATACACATATATATACATATAT ATATATATAT	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC66_chr3_56552175_56626837	56564526	AAAACATT others(31): Show AAAACATTGCTTTCCTGGCCACAGCATTTACTCTTCCTG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	372	0.0027	-38	c.544 others(53): Show c.544+402_544+439delAAACATTGCTTTCCTGGCCACAGCATTTAC TCTTCCTG	CCDC66	ENSG00000180376.17	transcript	ENST00000394672.8	protein_coding	4/17			chr3	TogoVar
CCDC6_chr10_59783747_59911556	59817490	TTTATTTA others(31): Show TTTATTTAAACAAATAACTATGAGGCATTTACCTTTAAG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0214 a0002c0002t0001g0214	1	288	0.0035	-38	c.583 others(55): Show c.583-2773_583-2736delCTTAAAGGTAAATGCCTCATAGTTATTT GTTTAAATAA	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	3/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59823630	ATTTATCC others(31): Show ATTTATCCAAAATGGAAGTTTTGGACAAACTTGATGTTC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0004t0001g0145 a0002c0002t0001g0281 a0002c0002t0001g0282 a0002c0004t0001g0145	3	288	0.0104	-38	c.582 others(55): Show c.582+8857_583-8876delGAACATCAAGTTTGTCCAAAACTTCCAT TTTGGATAAA	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	3/8			chr10	TogoVar
CCDC74B_chr2_130134287_130150112	130148625	ACAAGCTG others(31): Show ACAAGCTGACATATAGAATTAACCATCACAAGTCCACCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	450	0.0022	-38	c.-36 others(49): Show c.-3667_-3630delGGGTGGACTTGTGATGGTTAATTCTATATGTCAG CTTG	CCDC74B	ENSG00000152076.19	transcript	ENST00000409943.8	protein_coding		3514		chr2	TogoVar
CCDC77_chr12_396644_447642	416367	GTGTGTGT others(31): Show GTGTGTGTGTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0402 a0002c0002t0001g0402	1	432	0.0023	-38	c.271 others(55): Show c.271-2125_271-2088delGTGTGTGTGTATATATATATATATATAT ATATATATAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	416369	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0096 a0004c0004t0001g0096	1	432	0.0023	-38	c.271 others(55): Show c.271-2123_271-2086delGTGTGTGTATATATATATATATATATAT ATATATATAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC7_chr10_32441140_32887864	32461701	GTGTGTGT others(31): Show GTGTGTGTGTATATATATATATATATATATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 NA18522.hp1 HG00741.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0002t0001g0142 a0001c0002t0001g0152	2	368	0.0054	-38	c.457 others(53): Show c.457-980_457-943delGTGTGTGTATATATATATATATATATATGT ATATATAT	CCDC7	ENSG00000216937.14	transcript	ENST00000639629.2	protein_coding	4/43		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC88A_chr2_55282842_55424856	55335299	TATTTACT others(31): Show TATTTACTGAAGACCACTGTGTACACTTACTGTGAGGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(203): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0014 a0001c0017 a0004c0007 a0005c0016 a0006c0011 a0007c0013 a0009c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0002t0006 a0001c0002t0010 a0001c0002t0030 a0001c0002t0032 a0001c0002t0035 a0001c0006t0022 a0001c0008t0007 a0001c0010t0005 a0001c0012t0003 a0001c0014t0001 a0001c0017t0001 a0004c0007t0001 a0005c0016t0001 a0006c0011t0006 a0007c0013t0039 a0009c0018t0003	a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0138 others(202): Show a0001c0001t0001g0001 a0001c0001t0001g0121 a0001c0001t0001g0138 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0003g0020 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0075 a0001c0001t0005g0167 a0001c0001t0005g0230 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0298 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0005g0303 a0001c0001t0007g0217 a0001c0001t0007g0220 a0001c0001t0007g0232 a0001c0001t0007g0271 a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0027 a0001c0001t0012g0272 a0001c0001t0012g0287 a0001c0001t0012g0288 a0001c0001t0012g0289 a0001c0001t0012g0294 a0001c0001t0012g0295 a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0199 a0001c0001t0015g0200 a0001c0001t0016g0021 a0001c0001t0016g0022 a0001c0001t0016g0028 a0001c0001t0016g0029 a0001c0001t0018g0006 a0001c0001t0018g0007 a0001c0001t0018g0008 a0001c0001t0019g0273 a0001c0001t0019g0274 a0001c0001t0019g0302 a0001c0001t0021g0033 a0001c0001t0021g0038 a0001c0001t0023g0002 a0001c0001t0024g0003 a0001c0001t0025g0056 a0001c0001t0026g0009 a0001c0001t0027g0031 a0001c0001t0028g0046 a0001c0001t0029g0074 a0001c0001t0031g0026 a0001c0001t0034g0221 a0001c0001t0036g0285 a0001c0001t0037g0310 a0001c0001t0040g0203 a0001c0001t0041g0202 a0001c0001t0044g0315 a0001c0002t0006g0004 a0001c0002t0006g0005 a0001c0002t0006g0011 a0001c0002t0006g0012 a0001c0002t0006g0013 a0001c0002t0006g0014 a0001c0002t0006g0015 a0001c0002t0010g0078 a0001c0002t0010g0079 a0001c0002t0010g0080 a0001c0002t0010g0082 a0001c0002t0010g0083 a0001c0002t0010g0084 a0001c0002t0030g0016 a0001c0002t0032g0081 a0001c0002t0035g0127 a0001c0006t0022g0076 a0001c0006t0022g0077 a0001c0008t0007g0209 a0001c0008t0007g0270 a0001c0010t0005g0248 a0001c0012t0003g0055 a0001c0014t0001g0305 a0001c0017t0001g0257 a0004c0007t0001g0283 a0004c0007t0001g0284 a0005c0016t0001g0204 a0006c0011t0006g0010 a0007c0013t0039g0090 a0009c0018t0003g0063	206	316	0.6519	-38	c.165 others(55): Show c.1657-173_1657-136delGACCTCACAGTAAGTGTACACAGTGGTC TTCAGTAAAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	14/32			chr2	TogoVar
CCDC88A_chr2_55282842_55424856	55416431	AATAAATA others(31): Show AATAAATAAATAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01346.hp2 HG01884.hp1 others(21): Show HG01167.hp1 HG01346.hp2 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0006c0011 a0007c0013 a0008c0015	a0001c0001t0015 a0001c0002t0006 a0001c0002t0010 others(5): Show a0001c0001t0015 a0001c0002t0006 a0001c0002t0010 a0001c0002t0032 a0001c0006t0022 a0006c0011t0006 a0007c0013t0039 a0008c0015t0033	a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0198 others(21): Show a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0015g0199 a0001c0001t0015g0200 a0001c0002t0006g0004 a0001c0002t0006g0005 a0001c0002t0006g0011 a0001c0002t0006g0012 a0001c0002t0006g0013 a0001c0002t0006g0014 a0001c0002t0006g0015 a0001c0002t0010g0078 a0001c0002t0010g0079 a0001c0002t0010g0080 a0001c0002t0010g0082 a0001c0002t0010g0083 a0001c0002t0010g0084 a0001c0002t0032g0081 a0001c0006t0022g0076 a0001c0006t0022g0077 a0006c0011t0006g0010 a0007c0013t0039g0090 a0008c0015t0033g0201	24	316	0.0760	-38	c.164 others(55): Show c.164+2347_164+2384delATATATATATATATATATATATATATTT ATTTATTTAT	CCDC88A	ENSG00000115355.18	transcript	ENST00000436346.7	protein_coding	2/32			chr2	TogoVar
CCDC93_chr2_117910481_118019070	117983630	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(95): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18946.hp2 NA18952.hp2 NA18965.hp1 NA18971.hp1 NA18980.hp2 NA18986.hp1 NA18992.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19079.hp2 NA19082.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0008	a0001c0002 a0002c0003 a0006c0009 others(2): Show a0001c0002 a0002c0003 a0006c0009 a0007c0011 a0008c0010	a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 others(20): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0015 a0001c0002t0017 a0001c0002t0022 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0002c0003t0006 a0002c0003t0010 a0002c0003t0018 a0002c0003t0044 a0002c0003t0045 a0006c0009t0040 a0007c0011t0005 a0008c0010t0003	a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0025 others(85): Show a0001c0002t0003g0010 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0205 a0001c0002t0003g0206 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0260 a0001c0002t0003g0272 a0001c0002t0003g0273 a0001c0002t0005g0009 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0209 a0001c0002t0005g0210 a0001c0002t0005g0211 a0001c0002t0005g0212 a0001c0002t0005g0213 a0001c0002t0005g0275 a0001c0002t0011g0217 a0001c0002t0011g0231 a0001c0002t0011g0251 a0001c0002t0014g0024 a0001c0002t0015g0028 a0001c0002t0017g0218 a0001c0002t0017g0221 a0001c0002t0022g0278 a0001c0002t0033g0271 a0001c0002t0034g0259 a0001c0002t0035g0277 a0001c0002t0036g0243 a0001c0002t0037g0222 a0001c0002t0038g0255 a0001c0002t0039g0219 a0001c0002t0042g0276 a0002c0003t0006g0026 a0002c0003t0006g0204 a0002c0003t0006g0261 a0002c0003t0006g0262 a0002c0003t0006g0263 a0002c0003t0006g0264 a0002c0003t0006g0265 a0002c0003t0006g0266 a0002c0003t0006g0267 a0002c0003t0006g0269 a0002c0003t0006g0270 a0002c0003t0010g0199 a0002c0003t0010g0200 a0002c0003t0010g0201 a0002c0003t0010g0203 a0002c0003t0018g0027 a0002c0003t0044g0268 a0002c0003t0045g0202 a0006c0009t0040g0252 a0007c0011t0005g0258 a0008c0010t0003g0274	98	322	0.3044	-38	c.620 others(55): Show c.620+2301_620+2338delTATATATATATATATATATATATATATA TATATATATA	CCDC93	ENSG00000125633.11	transcript	ENST00000376300.7	protein_coding	7/23			chr2	TogoVar
CCDC9_chr19_47251525_47276953	47252220	CTCAGCTC others(31): Show CTCAGCTCACTGCAACCTCTGCCTCCCAAATTCAAGCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0073 a0002c0001t0073	a0002c0001t0073g0136 a0002c0001t0073g0136	1	402	0.0025	-38	c.-44 others(49): Show c.-4460_-4423delTCAGCTCACTGCAACCTCTGCCTCCCAAATTCAA GCAA	CCDC9	ENSG00000105321.14	transcript	ENST00000221922.11	protein_coding		4304		chr19	TogoVar
CCL25_chr19_8047760_8067650	8058308	AATATATA others(31): Show AATATATAAGTAAATATATAATATATAAATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18948.hp1 HG01255.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0221 a0001c0001t0001g0109 a0001c0001t0001g0221	2	428	0.0047	-38	c.445 others(53): Show c.445+432_445+469delTAAGTAAATATATAATATATAAATATATAT AATATATA	CCL25	ENSG00000131142.14	transcript	ENST00000315626.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CCM2_chr7_44995201_45081453	45078732	ATCAGAAG others(31): Show ATCAGAAGGCGGTGAGGGGACATCAGTAATGAGGGGACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0059 a0001c0006t0001g0059	1	316	0.0032	-38	c.26 others(49): Show c.2676_*2713delTCAGAAGGCGGTGAGGGGACATCAGTAATGAGGG GACG	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2280		chr7	TogoVar
CCNF_chr16_2424447_2463854	2435644	CATATATA others(31): Show CATATATATATGCACACACACACATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp1 NA18939.hp1 others(2): Show HG02809.hp1 HG03579.hp1 NA18939.hp1 NA18991.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0210 a0001c0001t0002g0266 a0001c0002t0002g0265	5	276	0.0181	-38	c.279 others(53): Show c.279-151_279-114delGCACACACACACATATATATATATATATAT ATATATAT	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCNF_chr16_2424447_2463854	2441949	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp1 HG02257.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0205 a0001c0001t0001g0206	2	276	0.0073	-38	c.778 others(55): Show c.778-1698_778-1661delATATATATATATATATATATATATATAT ATATGTTTTT	CCNF	ENSG00000162063.13	transcript	ENST00000397066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCSER1_chr4_90122394_91610295	91490873	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	38	0.0263	-38	c.221 others(61): Show c.2218-107681_2218-107644delTATATATATATATATATATATA TATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar

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