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
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18522.hp2 HG02258.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0330 a0001c0004t0001g0246 a0001c0002t0001g0330 a0001c0004t0001g0246	2	410	0.0049	28	c.114 others(47): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT AT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03486.hp1 NA20129.hp2 HG01255.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0265 a0001c0004t0001g0252 a0001c0004t0001g0253 a0001c0004t0001g0265	3	410	0.0073	28	c.114 others(47): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC TC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(21): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18975.hp2 NA18989.hp2 others(3): Show HG02071.hp1 NA18975.hp2 NA18989.hp2 NA19010.hp2 NA19067.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0322 others(3): Show a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0322 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0003t0001g0220	6	410	0.0146	28	c.114 others(47): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT CT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp1 HG02486.hp2 HG03516.hp1	a0002 a0012 a0002 a0012	a0002c0030 a0012c0020 a0002c0030 a0012c0020	a0002c0030t0004 a0012c0020t0001 a0002c0030t0004 a0012c0020t0001	a0002c0030t0004g0217 a0012c0020t0001g0172 a0002c0030t0004g0217 a0012c0020t0001g0172	2	264	0.0076	28	c.254 others(45): Show c.2540+474_2540+475insTATATATATATATAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0004 a0001c0022t0004	a0001c0022t0004g0152 a0001c0022t0004g0152	1	264	0.0038	28	c.254 others(45): Show c.2540+474_2540+475insTATATATATATAGAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623096	C C	CTCTCTCT others(21): Show CTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 NA19043.hp1 HG03098.hp2 HG03453.hp1 NA19043.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0007c0012 a0002c0003 a0007c0012	a0002c0003t0004 a0007c0012t0001 a0002c0003t0004 a0007c0012t0001	a0002c0003t0004g0206 a0007c0012t0001g0218 a0007c0012t0001g0219 a0002c0003t0004g0206 a0007c0012t0001g0218 a0007c0012t0001g0219	3	264	0.0114	28	c.254 others(45): Show c.2540+474_2540+475insTATATATATAGAGAGAGAGAGAGAGAGA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORIN_chr4_47589001_47843067	47623117	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0182 a0002c0003t0004g0182	1	264	0.0038	28	c.254 others(45): Show c.2540+453_2540+454insGTGTGTGTATATATATATATATATATAT	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	19/21			chr4	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18992.hp2 NA18960.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0182 a0001c0001t0001g0074 a0001c0001t0001g0182	2	342	0.0059	28	c.201 others(45): Show c.201+3130_201+3131insTATATATATATATATATATATATATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATGT others(21): Show GTGTATGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	342	0.0029	28	c.201 others(45): Show c.201+3130_201+3131insTATATATATATATATATATATACATACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	342	0.0029	28	c.201 others(45): Show c.201+3130_201+3131insTATATATATATATATATATATATACACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COTL1_chr16_84560596_84623078	84581163	A A	ATATGTAT others(21): Show ATATGTATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0135 a0001c0001t0016g0135	1	440	0.0023	28	c.318 others(45): Show c.318+8941_318+8942insCATACATACATACATACATACATACATA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	3/3			chr16	TogoVar
COX16_chr14_70320081_70364683	70328332	G G	GTCAAAAT others(21): Show GTCAAAATAAAAATCAACACTCTTCAGAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	376	0.0027	28	c.204 others(43): Show c.204+814_204+841dupTTCTGAAGAGTGTTGATTTTTATTTTGA	COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	3/3			chr14	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01346.hp1 HG00639.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0006 a0001c0001t0012g0052 a0001c0001t0003g0006 a0001c0001t0012g0052	2	406	0.0049	28	c.-30 others(39): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01256.hp1 HG00673.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0203 a0001c0001t0001g0177 a0001c0001t0001g0203	2	300	0.0067	28	c.-49 others(47): Show c.-49-19486_-49-19485insTACATATATATATATATATATATATA TA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(21): Show GTATATATATATATATATATATATGTATA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	300	0.0033	28	c.-49 others(47): Show c.-49-19486_-49-19485insTATACATATATATATATATATATATA TA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	300	0.0033	28	c.-49 others(47): Show c.-49-19488_-49-19487insTATATATATATATATATATATATATA TA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02738.hp2 HG00642.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0294 a0001c0001t0001g0208 a0001c0001t0001g0294	2	300	0.0067	28	c.-49 others(47): Show c.-49-19488_-49-19487insTATATATATATATATATATATATATA CA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
COX7B2_chr4_46729827_46914245	46754728	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA19081.hp1 HG02071.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0189 a0001c0001t0001g0199	2	300	0.0067	28	c.-49 others(47): Show c.-49-19488_-49-19487insTATATATATATATATATATATACACA CA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTCTCT others(21): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	400	0.0025	28	c.71+ others(41): Show c.71+824_71+825insCTCTTTCTTTCTTTCTTTCTTTCTTTCT	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01891.hp2 others(7): Show HG00544.hp2 HG00673.hp2 HG01891.hp2 NA18948.hp2 NA18983.hp2 NA18988.hp2 NA19005.hp1 NA19009.hp1 NA19083.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0001t0001g0236 a0001c0001t0001g0237 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0276 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0238	10	400	0.0250	28	c.71+ others(41): Show c.71+856_71+883dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	144	0.0069	28	c.839 others(47): Show c.839-14400_839-14399insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16967884	C C	CACACACG others(21): Show CACACACGTGTGTATATATGTGCATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00639.hp1 others(29): Show HG00099.hp1 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01070.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp2 HG01928.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1	a0001 a0003 a0004 others(18): Show a0001 a0003 a0004 a0009 a0010 a0012 a0015 a0019 a0025 a0037 a0040 a0049 a0060 a0062 a0064 a0066 a0082 a0103 a0112 a0115 a0116	a0001c0001 a0001c0013 a0003c0002 others(20): Show a0001c0001 a0001c0013 a0003c0002 a0004c0005 a0009c0010 a0010c0004 a0012c0029 a0015c0008 a0019c0039 a0025c0169 a0037c0093 a0037c0104 a0040c0141 a0049c0154 a0060c0157 a0062c0069 a0064c0161 a0066c0103 a0082c0165 a0103c0129 a0112c0135 a0115c0123 a0116c0138	a0001c0001t0002 a0001c0013t0001 a0003c0002t0002 others(21): Show a0001c0001t0002 a0001c0013t0001 a0003c0002t0002 a0004c0005t0002 a0009c0010t0002 a0010c0004t0001 a0012c0029t0001 a0015c0008t0001 a0015c0008t0004 a0019c0039t0001 a0025c0169t0001 a0037c0093t0001 a0037c0104t0001 a0040c0141t0002 a0049c0154t0001 a0060c0157t0002 a0062c0069t0001 a0064c0161t0002 a0066c0103t0002 a0082c0165t0002 a0103c0129t0001 a0112c0135t0002 a0115c0123t0001 a0116c0138t0001	a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0248 others(29): Show a0001c0001t0002g0199 a0001c0001t0002g0219 a0001c0001t0002g0248 a0001c0001t0002g0276 a0001c0013t0001g0261 a0003c0002t0002g0252 a0004c0005t0002g0146 a0009c0010t0002g0208 a0009c0010t0002g0209 a0010c0004t0001g0089 a0010c0004t0001g0201 a0010c0004t0001g0254 a0012c0029t0001g0151 a0012c0029t0001g0152 a0015c0008t0001g0035 a0015c0008t0004g0278 a0019c0039t0001g0227 a0019c0039t0001g0238 a0025c0169t0001g0120 a0037c0093t0001g0274 a0037c0104t0001g0150 a0040c0141t0002g0245 a0049c0154t0001g0195 a0060c0157t0002g0142 a0062c0069t0001g0071 a0064c0161t0002g0187 a0066c0103t0002g0022 a0082c0165t0002g0214 a0103c0129t0001g0129 a0112c0135t0002g0268 a0115c0123t0001g0226 a0116c0138t0001g0028	32	278	0.1151	28	c.221 others(47): Show c.2213+3006_2213+3007insATATATGCACATATATACACACGTGT GT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148849012	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	456	0.0022	28	c.981 others(45): Show c.981+3410_981+3411insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01891.hp1 HG02109.hp1 others(5): Show HG01167.hp1 HG01891.hp1 HG02109.hp1 HG03453.hp1 NA18948.hp2 NA19055.hp2 NA19083.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0002g0008 others(5): Show a0002c0002t0001g0104 a0002c0002t0001g0114 a0002c0002t0002g0008 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0103 a0002c0002t0002g0112 a0002c0002t0002g0126	8	330	0.0242	28	c.-31 others(39): Show c.-3149_-3148insTATATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPEB1_chr15_82538201_82652363	82542204	C C	CTTTATTT others(21): Show CTTTATTTATTTATTTATTTATTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03209.hp1 NA19240.hp1 others(1): Show HG03139.hp2 HG03209.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0015 a0001c0001t0026 a0001c0001t0009 a0001c0001t0015 a0001c0001t0026	a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0015g0189 others(1): Show a0001c0001t0009g0187 a0001c0001t0009g0188 a0001c0001t0015g0189 a0001c0001t0026g0190	4	354	0.0113	28	c.23 others(39): Show c.2387_*2388insTAAATAAATAAATAAATAAATAAATAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding		996		chr15	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAACAAGCAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18979.hp1 NA20129.hp1 HG02135.hp2 NA18979.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017	a0001c0001t0006g0245 a0001c0001t0010g0119 a0001c0001t0017g0128 a0001c0001t0006g0245 a0001c0001t0010g0119 a0001c0001t0017g0128	3	278	0.0108	28	c.145 others(47): Show c.1454-8905_1454-8904insTTGCTTGTTTTTTTTTTTTTTTTTTT TT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAACAAGCAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG03516.hp1 HG01109.hp1 HG02622.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0002t0007 a0001c0001t0003 a0001c0001t0006 a0001c0002t0007	a0001c0001t0003g0120 a0001c0001t0006g0242 a0001c0002t0007g0081 a0001c0001t0003g0120 a0001c0001t0006g0242 a0001c0002t0007g0081	3	278	0.0108	28	c.145 others(47): Show c.1454-8905_1454-8904insTTTGCTTGTTTTTTTTTTTTTTTTTT TT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92120098	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAACAAGCAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03453.hp2 HG03486.hp2 HG02055.hp2 HG03453.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0038 a0001c0001t0005 a0001c0001t0038	a0001c0001t0005g0261 a0001c0001t0005g0271 a0001c0001t0038g0263 a0001c0001t0005g0261 a0001c0001t0005g0271 a0001c0001t0038g0263	3	278	0.0108	28	c.145 others(47): Show c.1454-8905_1454-8904insTTTTGCTTGTTTTTTTTTTTTTTTTT TT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	6/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0006	1	140	0.0071	28	c.617 others(45): Show c.617-8934_617-8907dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(21): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01069.hp2 others(10): Show HG00621.hp1 HG00673.hp1 HG01069.hp2 HG01070.hp1 HG02027.hp2 HG02135.hp2 HG03669.hp2 NA18950.hp2 NA18953.hp2 NA18973.hp2 NA18989.hp2 NA19081.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0021	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0002g0002 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0079 a0001c0001t0006g0002 a0001c0001t0012g0002 a0001c0001t0021g0002	13	378	0.0344	28	c.-38 others(37): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	378	0.0027	28	c.-36 others(37): Show c.-361_-360insAGAGAGAGAGAGAGAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871456	A A	AGAGAGAG others(21): Show AGAGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 NA18940.hp2 HG02074.hp1 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	378	0.0053	28	c.-33 others(37): Show c.-338_-337insGAGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		121		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871458	A A	AGAGAGAG others(21): Show AGAGAGAGAGGGAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	28	c.-33 others(37): Show c.-336_-335insGAGAGAGAGGGAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		119		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871464	A A	AGAGAGAG others(21): Show AGAGAGAGAGAAAGAGAGAGAGAGAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02922.hp2 HG03195.hp1 others(2): Show HG02723.hp2 HG02922.hp2 HG03195.hp1 NA18965.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0001t0054	a0001c0001t0001g0004 a0001c0001t0004g0081 a0001c0001t0019g0004 others(1): Show a0001c0001t0001g0004 a0001c0001t0004g0081 a0001c0001t0019g0004 a0001c0001t0054g0044	5	378	0.0132	28	c.-33 others(37): Show c.-330_-329insGAGAGAGAGAAAGAGAGAGAGAGAGAGG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		113		chr5	TogoVar
CPM_chr12_68846175_68938171	68847136	T T	TACATATA others(21): Show TACATATATTACATATATATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18980.hp1 NA18962.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0088 a0001c0002t0001g0090 a0001c0001t0006g0088 a0001c0002t0001g0090	2	340	0.0059	28	c.92 others(39): Show c.9273_*9300dupGTATTATATATATATATGTAATATATGT	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		4038		chr12	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02109.hp2 HG02155.hp2 others(7): Show HG01516.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 NA18612.hp1 NA18747.hp2 NA18977.hp2 NA19062.hp1 NA19072.hp2 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0008 others(1): Show a0001c0001 a0001c0007 a0002c0008 a0002c0009	a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0007t0001 a0002c0008t0004 a0002c0009t0001	a0001c0001t0001g0170 a0001c0001t0001g0215 a0001c0001t0001g0237 others(7): Show a0001c0001t0001g0170 a0001c0001t0001g0215 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0004g0112 a0001c0007t0001g0132 a0002c0008t0004g0321 a0002c0009t0001g0311	10	340	0.0294	28	c.92 others(39): Show c.9240_*9241insTATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847210	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0046 a0002c0010t0046	a0002c0010t0046g0029 a0002c0010t0046g0029	1	340	0.0029	28	c.92 others(39): Show c.9226_*9227insCATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3964		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86524848	T T	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp1 HG04199.hp1 others(1): Show HG02109.hp2 HG03098.hp1 HG04199.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0008 a0002c0005 a0001c0002 a0001c0008 a0002c0005	a0001c0002t0002 a0001c0002t0003 a0001c0008t0004 others(1): Show a0001c0002t0002 a0001c0002t0003 a0001c0008t0004 a0002c0005t0005	a0001c0002t0002g0328 a0001c0002t0003g0334 a0001c0008t0004g0298 others(1): Show a0001c0002t0002g0328 a0001c0002t0003g0334 a0001c0008t0004g0298 a0002c0005t0005g0327	4	340	0.0118	28	c.-10 others(45): Show c.-10-3665_-10-3664insCTTTCTTTCTTTCTTTCTTTCTTTCTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03098.hp2 HG03139.hp1 others(1): Show HG01261.hp1 HG03098.hp2 HG03139.hp1 NA19240.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0003c0004 a0004c0006	a0003c0004t0006 a0004c0006t0005 a0004c0006t0011 a0003c0004t0006 a0004c0006t0005 a0004c0006t0011	a0003c0004t0006g0170 a0004c0006t0005g0281 a0004c0006t0011g0155 others(1): Show a0003c0004t0006g0170 a0004c0006t0005g0281 a0004c0006t0011g0155 a0004c0006t0011g0171	4	340	0.0118	28	c.-10 others(43): Show c.-10-565_-10-564insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131743962	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0087 a0001c0003t0010g0087	1	94	0.0106	28	c.181 others(47): Show c.181-20338_181-20337insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792636	C C	CGTGTGTA others(21): Show CGTGTGTATATATGTATATATACACACGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02451.hp1 others(3): Show HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0010	a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0002g0070 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0002g0070 a0001c0002t0001g0028 a0001c0002t0001g0039 a0001c0004t0010g0086	6	94	0.0638	28	c.181 others(47): Show c.181-69012_181-69011insACGTGTGTATATATACATATATACAC AC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792663	G G	GTGTATAT others(21): Show GTGTATATATGTATATATACACACGTGTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18960.hp2 NA18982.hp2 HG01496.hp1 NA18960.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0002 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0001t0007g0002 a0001c0002t0001g0030 a0001c0002t0001g0031	3	94	0.0319	28	c.181 others(47): Show c.181-69039_181-69038insTACACGTGTGTATATATACATATATA CA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801452	G G	GTGTGTAT others(21): Show GTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0061	1	94	0.0106	28	c.181 others(47): Show c.181-77828_181-77827insTATATATATATATATATATATATACA CA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978184	T T	TATTTATA others(21): Show TATTTATATAAATATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0066	1	94	0.0106	28	c.-2+ others(45): Show c.-2+56382_-2+56383insTATATATTTTATATATATTTATATAAAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCCG others(21): Show GCCCCCCGTGTCACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03453.hp1 HG02083.hp2 HG03453.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0003 a0001c0002t0001 a0003c0006t0003	a0001c0002t0001g0167 a0003c0006t0003g0232 a0001c0002t0001g0167 a0003c0006t0003g0232	2	348	0.0058	28	c.928 others(43): Show c.928-761_928-760insCGTGTCACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587909	G G	GCCCCCCG others(21): Show GCCCCCCGTGTTACCCACAGATACATGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp1 HG02630.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0335 a0001c0001t0001g0284 a0001c0001t0001g0335	2	348	0.0058	28	c.928 others(43): Show c.928-761_928-760insCGTGTTACCCACAGATACATGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588117	G G	GCCCCCCG others(21): Show GCCCCCCGTGTCACCCACAGAAACACGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0279 a0002c0004t0002g0279	1	348	0.0029	28	c.928 others(43): Show c.928-553_928-552insCGTGTCACCCACAGAAACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588117	G G	GCCCCCCG others(21): Show GCCCCCCGTGTTACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18998.hp2 HG02723.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0003 a0001c0007 a0002c0003	a0001c0007t0006 a0002c0003t0003 a0001c0007t0006 a0002c0003t0003	a0001c0007t0006g0064 a0002c0003t0003g0135 a0001c0007t0006g0064 a0002c0003t0003g0135	2	348	0.0058	28	c.928 others(43): Show c.928-553_928-552insCGTGTTACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588154	G G	GCCCCCCG others(21): Show GCCCCCCGTGTCACCCACAGATACATGGC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0304 a0002c0004t0002g0304	1	348	0.0029	28	c.928 others(43): Show c.928-516_928-515insCGTGTCACCCACAGATACATGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588154	G G	GCCCCCCG others(21): Show GCCCCCCGTGTTACCCACAGATACACGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0064 a0001c0007t0006g0064	1	348	0.0029	28	c.928 others(43): Show c.928-516_928-515insCGTGTTACCCACAGATACACGGCCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar

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