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
CPLANE1_chr5_37101235_37254376	37147971	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG00323.hp1 HG01109.hp1	a0010 a0010	a0010c0015 a0010c0025 a0010c0015 a0010c0025	a0010c0015t0001 a0010c0025t0001 a0010c0015t0001 a0010c0025t0001	a0010c0015t0001g0050 a0010c0025t0001g0049 a0010c0015t0001g0050 a0010c0025t0001g0049	2	268	0.0075	17	c.846 others(34): Show c.8461+193_8461+209dupTTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	43/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02055.hp1 HG03098.hp2 others(3): Show HG01515.hp1 HG02055.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp2 NA18906.hp1	a0001 a0006 a0010 others(1): Show a0001 a0006 a0010 a0020	a0001c0001 a0001c0045 a0006c0005 others(2): Show a0001c0001 a0001c0045 a0006c0005 a0010c0040 a0020c0035	a0001c0001t0009 a0001c0045t0001 a0006c0005t0002 others(2): Show a0001c0001t0009 a0001c0045t0001 a0006c0005t0002 a0010c0040t0001 a0020c0035t0002	a0001c0001t0009g0008 a0001c0045t0001g0197 a0006c0005t0002g0247 others(3): Show a0001c0001t0009g0008 a0001c0045t0001g0197 a0006c0005t0002g0247 a0006c0005t0002g0250 a0010c0040t0001g0052 a0020c0035t0002g0148	6	268	0.0224	17	c.812 others(34): Show c.8120-483_8120-467dupAAAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 HG03195.hp1 HG03209.hp1	a0008 a0009 a0008 a0009	a0008c0007 a0009c0012 a0008c0007 a0009c0012	a0008c0007t0003 a0009c0012t0005 a0008c0007t0003 a0009c0012t0005	a0008c0007t0003g0045 a0009c0012t0005g0266 a0008c0007t0003g0045 a0009c0012t0005g0266	2	268	0.0075	17	c.408 others(34): Show c.4080+337_4080+353dupTTTTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX1_chr4_779957_831129	826350	G G	GGGGGCGG others(10): Show GGGGGCGGAGGCGGACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0223 a0001c0001t0005g0223	1	416	0.0024	17	c.-38 others(26): Show c.-385_-384insGGGTCCGCCTCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		222		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0020 a0001c0001t0024g0020	1	378	0.0027	17	c.-33 others(26): Show c.-338_-337insGAGAGAGAGAGAGAGGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175879068	G G	GCAGATCC others(10): Show GCAGATCCGAGATAAGGT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	378	0.0027	17	c.196 others(26): Show c.196_207+5dupATCCGAGATAAGGTCAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0142 a0002c0003t0005g0142	1	340	0.0029	17	c.-10 others(32): Show c.-10-581_-10-565dupTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01928.hp1 HG02148.hp1 others(6): Show HG00609.hp1 HG01928.hp1 HG02148.hp1 HG02148.hp2 NA18982.hp2 NA18984.hp1 NA18995.hp2 NA19064.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0017t0001	a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0108 others(6): Show a0001c0001t0001g0044 a0001c0001t0001g0069 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0008g0089 a0001c0002t0001g0303 a0001c0017t0001g0105	9	340	0.0265	17	c.112 others(36): Show c.1120+1744_1120+1745insCCCCCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131700054	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0012	1	94	0.0106	17	c.361 others(30): Show c.361-91_361-75dupAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131717853	G G	GCTCCCTT others(10): Show GCTCCCTTTCTTTCCTCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01069.hp2 others(52): Show HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01169.hp1 HG01496.hp2 HG01884.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03516.hp1 HG03516.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18946.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0011 a0001c0002t0012 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0004t0001 a0001c0004t0010 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 others(52): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0001t0008g0066 a0001c0001t0011g0093 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0002g0082 a0001c0002t0003g0063 a0001c0002t0011g0094 a0001c0002t0012g0025 a0001c0003t0001g0005 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0045 a0001c0003t0016g0092 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0010g0086 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091 a0001c0006t0004g0008	55	94	0.5851	17	c.360 others(34): Show c.360+5592_360+5593insGGAGGAAAGAAAGGGAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131737115	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA18939.hp1 HG03098.hp2 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0014 a0001c0003t0002 a0001c0002t0014 a0001c0003t0002	a0001c0002t0014g0065 a0001c0003t0002g0071 a0001c0002t0014g0065 a0001c0003t0002g0071	2	94	0.0213	17	c.181 others(36): Show c.181-13507_181-13491dupAAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131743962	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	94	0.0106	17	c.181 others(36): Show c.181-20354_181-20338dupTTTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801338	T T	TATATATA others(10): Show TATATATATATATGTACC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG03041.hp2 others(1): Show HG01884.hp1 HG02647.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0011 a0001c0003t0001 others(1): Show a0001c0001t0011 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003	a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0044 others(1): Show a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0044 a0001c0003t0003g0045	4	94	0.0426	17	c.181 others(36): Show c.181-77730_181-77714dupGGTACATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(10): Show CTTTTTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00673.hp2 others(19): Show HG00099.hp2 HG00558.hp1 HG00673.hp2 HG00738.hp2 HG03017.hp1 HG04184.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18973.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA19010.hp1 NA19055.hp2 NA19058.hp1 NA19074.hp2 NA19080.hp2 NA19087.hp2 NA19089.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0088 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0214 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0341 a0001c0001t0001g0370 a0001c0001t0002g0220 a0001c0001t0002g0353 a0001c0001t0006g0267 a0001c0001t0008g0117 a0001c0001t0008g0377 a0001c0001t0008g0378	22	380	0.0579	17	c.738 others(34): Show c.738-2850_738-2849insAAAAAAAAAGAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587755	A A	ACCCACAG others(10): Show ACCCACAGATACACGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	348	0.0029	17	c.927 others(32): Show c.927+656_927+657insACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01070.hp2 others(40): Show HG00099.hp2 HG00544.hp1 HG01070.hp2 HG01071.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01943.hp1 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02523.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03927.hp2 HG04184.hp2 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp2 NA18960.hp2 NA18969.hp1 NA18977.hp2 NA18982.hp1 NA18984.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19072.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0024 a0001c0002t0002	a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0003g0052 others(40): Show a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0003g0052 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0193 a0001c0001t0003g0199 a0001c0001t0003g0202 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0005g0324 a0001c0001t0006g0161 a0001c0001t0006g0165 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0205 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0302 a0001c0001t0014g0177 a0001c0001t0014g0203 a0001c0001t0024g0178 a0001c0002t0002g0089	43	342	0.1257	17	c.723 others(34): Show c.723-5877_723-5876insCACACACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPQ_chr8_96640242_97148501	96767635	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	126	0.0079	17	c.-34 others(36): Show c.-34-17219_-34-17203dupTTTTTTTTTTTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01884.hp1 HG02723.hp1 others(5): Show HG01517.hp1 HG01884.hp1 HG02723.hp1 HG02922.hp1 HG02965.hp1 HG03225.hp2 NA18962.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0076 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0002t0001g0098	8	126	0.0635	17	c.641 others(36): Show c.641+19363_641+19379dupAAAAAAAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97099115	C C	CTCTCTCT others(10): Show CTCTCTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02004.hp2 HG01943.hp1 HG02004.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0047 a0006c0010t0001g0045 a0001c0001t0001g0047 a0006c0010t0001g0045	2	126	0.0159	17	c.125 others(38): Show c.1255+32906_1255+32907insCTCTCTTTTTTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0161 a0001c0001t0161	a0001c0001t0161g0030 a0001c0001t0161g0030	1	388	0.0026	17	c.41 others(28): Show c.4119_*4135dupTTTTTTTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0129 a0001c0001t0007g0129	1	364	0.0028	17	c.103 others(34): Show c.103+1490_103+1491insATATATATATATTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19056.hp1 HG02818.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0141 a0001c0001t0007g0140 a0001c0001t0003g0141 a0001c0001t0007g0140	2	364	0.0055	17	c.103 others(34): Show c.103+1490_103+1491insATATATATATTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF4_chr7_99433943_99462373	99440674	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18963.hp1 NA19089.hp1 HG03942.hp2 NA18963.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176	3	364	0.0082	17	c.103 others(34): Show c.103+1490_103+1491insATATATATTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPSF6_chr12_69234569_69279358	69249152	C C	CGGTGGGG others(10): Show CGGTGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02135.hp2 HG03688.hp2 others(5): Show HG01071.hp2 HG02135.hp2 HG03688.hp2 NA18947.hp2 NA18984.hp1 NA19064.hp2 NA19074.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0024 a0001c0002t0035 a0001c0002t0088	a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0144 others(5): Show a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0004g0142 a0001c0002t0006g0167 a0001c0002t0024g0143 a0001c0002t0035g0145 a0001c0002t0088g0168	8	392	0.0204	17	c.61- others(32): Show c.61-1975_61-1974insTGGGGGGGGGGGGGGGG	CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
CPSF7_chr11_61397729_61434975	61434591	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	190	0.0053	17	c.-47 others(28): Show c.-4750_-4734dupAAAAAAAAAAAAAAAAA	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding		4617		chr11	TogoVar
CPT1A_chr11_68749883_68846916	68838571	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG03516.hp1 others(2): Show HG02257.hp2 HG02717.hp1 HG03516.hp1 HG04115.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0002c0009t0032	a0001c0001t0001g0020 a0001c0001t0001g0217 a0001c0001t0004g0215 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0217 a0001c0001t0004g0215 a0001c0002t0002g0214 a0002c0009t0032g0216	5	236	0.0212	17	c.-14 others(34): Show c.-14+3203_-14+3204insTTTTTTTTTTTTTTTTT	CPT1A	ENSG00000110090.13	transcript	ENST00000265641.10	protein_coding	1/18			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49695709	A A	AACACTAG others(10): Show AACACTAGATCGCGTGTT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	350	0.0029	17	c.142 others(34): Show c.142-1616_142-1615insCACTAGATCGCGTGTTA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT1C_chr19_49686116_49718731	49712343	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	350	0.0029	17	c.202 others(34): Show c.2020-377_2020-376insAAAAAAAAAAAAAAAAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPVL_chr7_28990235_29151537	29000408	T T	TGTGGAAA others(10): Show TGTGGAAATGCAGGAGGC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG02965.hp2 others(1): Show HG02572.hp2 HG02818.hp1 HG02965.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0010 a0003c0003 a0003c0010	a0003c0003t0001 a0003c0010t0001 a0003c0003t0001 a0003c0010t0001	a0003c0003t0001g0050 a0003c0003t0001g0235 a0003c0003t0001g0250 others(1): Show a0003c0003t0001g0050 a0003c0003t0001g0235 a0003c0003t0001g0250 a0003c0010t0001g0055	4	282	0.0142	17	c.132 others(36): Show c.1321-4543_1321-4527dupGCCTCCTGCATTTCCAC	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	12/12			chr7	TogoVar
CPXM2_chr10_123740639_123896807	123809709	T T	TGTGTTAA others(10): Show TGTGTTAAGTTAAGGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02027.hp2 HG02055.hp2 others(9): Show HG01175.hp2 HG02027.hp2 HG02055.hp2 HG02155.hp2 HG02647.hp1 HG02738.hp1 HG03669.hp2 HG04204.hp1 NA19000.hp1 NA19085.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0011 a0001c0013 a0001c0031 a0001c0032 a0014c0033	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0008t0002 a0001c0011t0001 a0001c0011t0002 a0001c0013t0001 a0001c0013t0018 a0001c0031t0006 a0001c0032t0001 a0014c0033t0001	a0001c0001t0001g0049 a0001c0001t0002g0258 a0001c0003t0001g0127 others(9): Show a0001c0001t0001g0049 a0001c0001t0002g0258 a0001c0003t0001g0127 a0001c0008t0002g0256 a0001c0011t0001g0210 a0001c0011t0002g0209 a0001c0011t0002g0231 a0001c0013t0001g0205 a0001c0013t0018g0213 a0001c0031t0006g0193 a0001c0032t0001g0225 a0014c0033t0001g0179	12	288	0.0417	17	c.654 others(36): Show c.654-10511_654-10510insCTTCCTTAACTTAACAC	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	4/13			chr10	TogoVar
CPZ_chr4_8587765_8624752	8622800	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG02257.hp2 HG02451.hp2 others(2): Show HG00597.hp1 HG02257.hp2 HG02451.hp2 HG04115.hp1 NA20129.hp2	a0002 a0005 a0002 a0005	a0002c0014 a0005c0005 a0002c0014 a0005c0005	a0002c0014t0002 a0005c0005t0002 a0005c0005t0009 a0002c0014t0002 a0005c0005t0002 a0005c0005t0009	a0002c0014t0002g0022 a0002c0014t0002g0245 a0005c0005t0002g0006 others(1): Show a0002c0014t0002g0022 a0002c0014t0002g0245 a0005c0005t0002g0006 a0005c0005t0009g0254	5	442	0.0113	17	c.31 others(28): Show c.3183_*3184insAAAAAAAAAAAAAAAAA	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding		3049		chr4	TogoVar
CR1_chr1_207491157_207646765	207527202	G G	GCTTAAAA others(10): Show GCTTAAAAGAAAGACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02451.hp1 others(10): Show HG01884.hp1 HG02257.hp1 HG02451.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0001 a0006c0006t0001g0029 a0006c0006t0001g0082 others(9): Show a0006c0006t0001g0001 a0006c0006t0001g0029 a0006c0006t0001g0082 a0006c0006t0001g0089 a0006c0006t0001g0107 a0006c0006t0001g0153 a0006c0006t0001g0154 a0006c0006t0001g0155 a0006c0006t0001g0156 a0006c0006t0001g0157 a0006c0006t0001g0185 a0006c0006t0001g0186	13	360	0.0361	17	c.116 others(32): Show c.1166+80_1166+81insTTAAAAGAAAGACACAC	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	7/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
CR2_chr1_207449328_207494892	207486230	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp2 NA18946.hp2 others(11): Show HG00544.hp2 HG02083.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18977.hp1 NA18987.hp2 NA18991.hp2 NA18998.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19066.hp1 NA19083.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0003 a0013c0032 a0001c0001 a0001c0003 a0013c0032	a0001c0001t0001 a0001c0003t0001 a0013c0032t0001 a0001c0001t0001 a0001c0003t0001 a0013c0032t0001	a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0122 others(9): Show a0001c0001t0001g0031 a0001c0001t0001g0084 a0001c0001t0001g0122 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0003t0001g0040 a0001c0003t0001g0183 a0001c0003t0001g0188 a0001c0003t0001g0192 a0001c0003t0001g0204 a0001c0003t0001g0206 a0013c0032t0001g0108	14	378	0.0370	17	c.18 others(32): Show c.18+668_*18+684dupAAAAAAAAAAAAAAAAA	CR2	ENSG00000117322.19	transcript	ENST00000367057.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATATTTTT others(10): Show ATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA19057.hp2 HG02004.hp1 NA19057.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0187 a0003c0003t0001g0265 a0001c0001t0001g0187 a0003c0003t0001g0265	2	316	0.0063	17	c.275 others(34): Show c.2750-407_2750-406insAAAAAAAAAAAAAAATA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98795077	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03834.hp2 HG02717.hp2 HG03834.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0001 a0005c0005t0001 a0003c0003t0001 a0005c0005t0001	a0003c0003t0001g0160 a0005c0005t0001g0028 a0003c0003t0001g0160 a0005c0005t0001g0028	2	316	0.0063	17	c.275 others(34): Show c.2750-407_2750-406insAAAAAAAAAAAAAAAAA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	9/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98866475	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	316	0.0032	17	c.-10 others(36): Show c.-10-19682_-10-19666dupAAAAAAAAAAAAAAAAA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACDL_chr2_98788846_98941225	98891376	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18906.hp1 NA19043.hp2 HG01258.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0181 a0001c0001t0001g0041 a0001c0001t0001g0066 a0001c0001t0001g0181	3	316	0.0095	17	c.-11 others(36): Show c.-11+44545_-11+44561dupTTTTTTTTTTTTTTTTT	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CRACD_chr4_56044098_56335609	56286525	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0014 a0004c0004t0014	a0004c0004t0014g0086 a0004c0004t0014g0086	1	250	0.0040	17	c.-16 others(36): Show c.-16-11683_-16-11667dupAAAAAAAAAAAAAAAAA	CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CRACR2A_chr12_3610328_3758109	3621648	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02647.hp2 others(3): Show HG02280.hp2 HG02451.hp1 HG02647.hp2 HG02809.hp2 HG03486.hp2 NA18994.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0004 a0005c0005 a0001c0001 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0005c0005t0001	a0001c0001t0001g0049 a0001c0001t0001g0198 a0001c0001t0001g0318 others(3): Show a0001c0001t0001g0049 a0001c0001t0001g0198 a0001c0001t0001g0318 a0001c0001t0002g0069 a0004c0004t0001g0210 a0005c0005t0001g0307	6	320	0.0188	17	c.193 others(36): Show c.1933-2293_1933-2277dupTTTTTTTTTTTTTTTTT	CRACR2A	ENSG00000130038.10	transcript	ENST00000440314.7	protein_coding	17/19			chr12	TogoVar
CRB1_chr1_197263252_197483455	197290305	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0132 a0002c0003t0001g0132	1	186	0.0054	17	c.70+ others(34): Show c.70+21823_70+21824insGTGTGTGTGTGTGTGTG	CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	1/11			chr1	TogoVar
CRB2_chr9_123351197_123383753	123359430	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0110 a0001c0005t0001g0110	1	432	0.0023	17	c.94+ others(32): Show c.94+3081_94+3082insTTTTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRB2_chr9_123351197_123383753	123378798	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	432	0.0023	17	c.17 others(28): Show c.1736_*1737insTTTTTTTTTTTTTTTTT	CRB2	ENSG00000148204.12	transcript	ENST00000373631.8	protein_coding		46		chr9	TogoVar
CRBN_chr3_3145011_3184691	3181983	T T	TATATATA others(10): Show TATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG03098.hp2 HG02647.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0111 a0001c0001t0013g0041 a0001c0001t0003g0111 a0001c0001t0013g0041	2	376	0.0053	17	c.-22 others(28): Show c.-2297_-2296insTATATATATATATATAT	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding		2293		chr3	TogoVar
CRBN_chr3_3145011_3184691	3181984	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp1 HG02572.hp1 others(1): Show HG02055.hp2 HG02486.hp1 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0107	4	376	0.0106	17	c.-22 others(28): Show c.-2298_-2297insATATATATATATATATA	CRBN	ENSG00000113851.16	transcript	ENST00000231948.9	protein_coding		2294		chr3	TogoVar
CREB3L2_chr7_137869979_138007086	137927278	G G	GAAAGGAG others(10): Show GAAAGGAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG02809.hp1 others(5): Show HG01891.hp2 HG02451.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0055 a0002c0002t0015 a0002c0002t0018 others(3): Show a0001c0001t0055 a0002c0002t0015 a0002c0002t0018 a0002c0008t0008 a0002c0008t0022 a0002c0008t0041	a0001c0001t0055g0026 a0002c0002t0015g0193 a0002c0002t0018g0032 others(5): Show a0001c0001t0055g0026 a0002c0002t0015g0193 a0002c0002t0018g0032 a0002c0002t0018g0156 a0002c0008t0008g0007 a0002c0008t0022g0033 a0002c0008t0022g0034 a0002c0008t0041g0272	8	288	0.0278	17	c.319 others(32): Show c.319+871_319+872insTCCTTCCTTCCTCCTTT	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L3_chr19_4148631_4178054	4173433	G G	GTCGCCCC others(10): Show GTCGCCCCCACTGCGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0231 a0001c0001t0009g0231	1	404	0.0025	17	c.14 others(28): Show c.1464_*1465insTCGCCCCCACTGCGGGC	CREB3L3	ENSG00000060566.14	transcript	ENST00000078445.7	protein_coding		380		chr19	TogoVar
CREBBP_chr16_3720054_3885713	3759588	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01074.hp2 HG02055.hp1 others(12): Show HG00673.hp2 HG01074.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp1 HG02922.hp2 HG03041.hp1 NA18944.hp2 NA18947.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0007 a0001c0028 others(3): Show a0001c0001 a0001c0007 a0001c0028 a0002c0006 a0003c0008 a0005c0019	a0001c0001t0004 a0001c0001t0024 a0001c0007t0002 others(6): Show a0001c0001t0004 a0001c0001t0024 a0001c0007t0002 a0001c0028t0010 a0002c0006t0016 a0002c0006t0019 a0003c0008t0007 a0003c0008t0049 a0005c0019t0007	a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0243 others(12): Show a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0024g0268 a0001c0007t0002g0218 a0001c0028t0010g0010 a0002c0006t0016g0265 a0002c0006t0016g0266 a0002c0006t0019g0238 a0003c0008t0007g0223 a0003c0008t0049g0263 a0005c0019t0007g0008	15	286	0.0525	17	c.325 others(34): Show c.3251-617_3251-616insTTTTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	16/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3768136	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0019 a0002c0006t0019	a0002c0006t0019g0238 a0002c0006t0019g0238	1	286	0.0035	17	c.306 others(34): Show c.3061-244_3061-228dupAAAAAAAAAAAAAAAAA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	15/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3787070	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0031 a0001c0018t0031	a0001c0018t0031g0009 a0001c0018t0031g0009	1	286	0.0035	17	c.133 others(36): Show c.1331-4145_1331-4144insTTTTTTTTTTTTTTTTT	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	5/30			chr16	TogoVar
CREBBP_chr16_3720054_3885713	3802114	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0004 a0001c0033t0004	a0001c0033t0004g0234 a0001c0033t0004g0234	1	286	0.0035	17	c.975 others(34): Show c.975+8472_975+8488dupAAAAAAAAAAAAAAAAA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	3/30			chr16	TogoVar

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