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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CPNE4_chr3_131528569_132040014	132001549	A A	AGAGAAAG others(4): Show AGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG00738.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0004g0024 a0001c0005t0004g0026	2	94	0.0213	11	c.-2+ others(28): Show c.-2+33017_-2+33018insCTTTCTTTCTC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36758415	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02280.hp1 HG02630.hp1 others(10): Show HG00639.hp1 HG02280.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(4): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0003t0002 a0001c0007t0006 a0001c0008t0006	a0001c0002t0001g0010 a0001c0002t0001g0244 a0001c0002t0001g0248 others(10): Show a0001c0002t0001g0010 a0001c0002t0001g0244 a0001c0002t0001g0248 a0001c0002t0001g0270 a0001c0002t0005g0347 a0001c0002t0006g0057 a0001c0002t0006g0241 a0001c0002t0006g0328 a0001c0002t0017g0183 a0001c0003t0002g0068 a0001c0007t0006g0247 a0001c0008t0006g0069 a0001c0008t0006g0073	13	380	0.0342	11	c.856 others(28): Show c.856-2128_856-2118dupAAAAAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	12/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36762415	A A	AGACCAGG others(4): Show AGACCAGGTGCC	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	380	0.0026	11	c.855 others(26): Show c.855+491_855+501dupGGCACCTGGTC	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	12/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36834254	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG01169.hp1 others(7): Show HG01106.hp2 HG01168.hp2 HG01169.hp1 HG02683.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp2 HG03239.hp2 NA18994.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 others(7): Show a0001c0001t0001g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0004g0179 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0003t0002g0076 a0001c0003t0002g0193 a0001c0003t0002g0194	10	380	0.0263	11	c.95+ others(26): Show c.95+5018_95+5028dupTTTTTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587129	G G	GCCCCATG others(4): Show GCCCCATGCCGC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	348	0.0029	11	c.927 others(24): Show c.927+31_927+32insATGCCGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587781	G G	GCCCCCGT others(4): Show GCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	348	0.0029	11	c.927 others(26): Show c.927+683_927+693dupCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01257.hp1 HG01952.hp2 others(17): Show HG00323.hp2 HG01257.hp1 HG01952.hp2 HG02145.hp1 HG02257.hp2 HG02300.hp2 HG02717.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG03098.hp2 HG03130.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp2 NA18943.hp1 NA18959.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0005t0002 a0001c0007t0006 a0002c0003t0003	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0082 others(17): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0082 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0182 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0012g0142 a0001c0002t0002g0023 a0001c0002t0002g0204 a0001c0002t0004g0325 a0001c0002t0004g0326 a0001c0002t0005g0291 a0001c0005t0002g0303 a0001c0007t0006g0165 a0002c0003t0003g0207 a0002c0003t0003g0208	20	348	0.0575	11	c.927 others(26): Show c.927+693_927+694insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587817	T T	TCACCCCC others(4): Show TCACCCCCATAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	348	0.0029	11	c.927 others(26): Show c.927+720_927+721insCCATAGCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587845	G G	GCCCCCGT others(4): Show GCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02615.hp1 HG03239.hp2 HG00733.hp1 HG02615.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0277 a0001c0001t0001g0334 a0001c0002t0005g0292 a0001c0001t0001g0277 a0001c0001t0001g0334 a0001c0002t0005g0292	3	348	0.0086	11	c.927 others(26): Show c.927+752_927+753insCACCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587849	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG01516.hp1 others(18): Show HG01081.hp2 HG01175.hp1 HG01516.hp1 HG01517.hp1 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG03017.hp2 HG03579.hp2 HG03927.hp1 HG04184.hp1 NA18998.hp1 NA19043.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0001c0015 a0001c0029 a0002c0003	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(6): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0008t0002 a0001c0015t0001 a0001c0029t0001 a0002c0003t0003	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0068 others(18): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0213 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0002t0002g0042 a0001c0002t0003g0180 a0001c0002t0004g0326 a0001c0002t0005g0291 a0001c0008t0002g0015 a0001c0015t0001g0330 a0001c0029t0001g0270 a0002c0003t0003g0129	21	348	0.0603	11	c.927 others(26): Show c.927+752_927+753insCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587855	T T	TACCCGCG others(4): Show TACCCGCGTGTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0322	1	348	0.0029	11	c.927 others(26): Show c.927+757_927+758insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCCCGT others(4): Show CCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0012 a0001c0008t0002g0012	1	348	0.0029	11	c.928 others(26): Show c.928-719_928-718insCACCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCCCTCGT others(4): Show CCCCTCGTGTCA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	348	0.0029	11	c.928 others(26): Show c.928-725_928-724insTCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587947	C C	CCTCCCGT others(4): Show CCTCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0015 a0001c0008t0002g0015	1	348	0.0029	11	c.928 others(26): Show c.928-727_928-726insTCCCGTGTCAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCATGTCA others(4): Show CCATGTCACCCG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19057.hp1 NA18970.hp2 NA19057.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0021 a0001c0001 a0008c0021	a0001c0001t0001 a0008c0021t0001 a0001c0001t0001 a0008c0021t0001	a0001c0001t0001g0191 a0008c0021t0001g0224 a0001c0001t0001g0191 a0008c0021t0001g0224	2	348	0.0058	11	c.928 others(26): Show c.928-723_928-722insATGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02027.hp1 HG02080.hp2 others(14): Show HG01952.hp2 HG02027.hp1 HG02080.hp2 HG02132.hp2 HG02451.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18612.hp1 NA18940.hp1 NA18959.hp2 NA19070.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0015 a0002c0003 a0003c0006 a0004c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0007t0006 a0001c0015t0001 a0002c0003t0003 a0003c0006t0003 a0004c0011t0001	a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0001t0001g0333 others(14): Show a0001c0001t0001g0175 a0001c0001t0001g0241 a0001c0001t0001g0333 a0001c0001t0001g0336 a0001c0002t0001g0025 a0001c0002t0002g0204 a0001c0002t0003g0206 a0001c0002t0004g0226 a0001c0002t0005g0291 a0001c0007t0006g0165 a0001c0015t0001g0330 a0002c0003t0003g0113 a0002c0003t0003g0171 a0003c0006t0003g0145 a0003c0006t0003g0148 a0003c0006t0003g0230 a0004c0011t0001g0077	17	348	0.0489	11	c.928 others(26): Show c.928-719_928-718insCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587951	C C	CCGTGTTA others(4): Show CCGTGTTACCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	348	0.0029	11	c.928 others(26): Show c.928-714_928-713insGCGTGTTACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587957	T T	TACCCGCG others(4): Show TACCCGCGTGTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	348	0.0029	11	c.928 others(26): Show c.928-714_928-713insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587973	G G	GCCCCCGT others(4): Show GCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01952.hp2 HG03540.hp2 HG01257.hp1 HG01952.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0333 a0001c0001t0001g0062 a0001c0001t0001g0099 a0001c0001t0001g0333	3	348	0.0086	11	c.928 others(26): Show c.928-698_928-688dupCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCGTGTCA others(4): Show CCGTGTCACCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0015 a0001c0008t0002g0015	1	348	0.0029	11	c.928 others(26): Show c.928-696_928-686dupGTGTCACCCAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00741.hp2 HG01261.hp2 others(17): Show HG00438.hp2 HG00741.hp2 HG01261.hp2 HG01891.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 NA18522.hp2 NA18941.hp1 NA18950.hp2 NA18959.hp2 NA19009.hp2 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0015 a0002c0003 a0002c0004 a0004c0011 a0006c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0005t0002 a0001c0015t0001 a0002c0003t0003 a0002c0004t0002 a0004c0011t0001 a0006c0014t0001	a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0269 others(17): Show a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0269 a0001c0001t0001g0300 a0001c0001t0001g0336 a0001c0002t0001g0025 a0001c0002t0001g0331 a0001c0002t0002g0278 a0001c0002t0002g0338 a0001c0002t0003g0236 a0001c0002t0004g0326 a0001c0002t0005g0291 a0001c0005t0002g0303 a0001c0015t0001g0330 a0002c0003t0003g0113 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0004t0002g0324 a0004c0011t0001g0077 a0006c0014t0001g0008	20	348	0.0575	11	c.928 others(26): Show c.928-688_928-687insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588000	C C	CCCCCCGT others(4): Show CCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	348	0.0029	11	c.928 others(26): Show c.928-666_928-665insCACCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588004	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp2 HG01361.hp1 others(20): Show HG00741.hp2 HG01071.hp2 HG01361.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG02055.hp2 HG02129.hp1 HG02145.hp2 HG02257.hp2 HG02602.hp1 HG02723.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03239.hp2 HG03688.hp1 HG03831.hp1 HG04228.hp2 HG06807.hp2 NA18942.hp1 NA19030.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0013 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(7): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0007t0006 a0001c0008t0002 a0001c0013t0002 a0002c0003t0003 a0002c0004t0002	a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0057 others(20): Show a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0097 a0001c0001t0001g0182 a0001c0001t0001g0214 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0300 a0001c0002t0002g0046 a0001c0002t0005g0019 a0001c0002t0010g0219 a0001c0002t0013g0194 a0001c0007t0006g0064 a0001c0007t0006g0165 a0001c0008t0002g0010 a0001c0013t0002g0006 a0002c0003t0003g0073 a0002c0004t0002g0279 a0002c0004t0002g0304	23	348	0.0661	11	c.928 others(26): Show c.928-666_928-665insCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588010	T T	TACCCGCG others(4): Show TACCCGCGTGTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19009.hp2 NA19087.hp1 others(1): Show HG02080.hp1 NA19009.hp2 NA19087.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0004 a0002c0003t0003 a0001c0001t0001 a0001c0002t0004 a0002c0003t0003	a0001c0001t0001g0045 a0001c0002t0004g0223 a0002c0003t0003g0139 others(1): Show a0001c0001t0001g0045 a0001c0002t0004g0223 a0002c0003t0003g0139 a0002c0003t0003g0170	4	348	0.0115	11	c.928 others(26): Show c.928-661_928-660insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588065	C C	CCCCCCGT others(4): Show CCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0085 a0001c0001t0001g0086	2	348	0.0058	11	c.928 others(26): Show c.928-601_928-600insCACCCCCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG01071.hp2 others(11): Show HG00099.hp1 HG00438.hp2 HG01071.hp2 HG01952.hp2 HG02083.hp2 HG03041.hp2 HG04184.hp2 NA18942.hp1 NA18950.hp2 NA18979.hp1 NA19010.hp2 NA19030.hp2 NA19066.hp2 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0013 a0001c0013t0002 a0002c0004t0002 a0003c0006t0003	a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0097 others(11): Show a0001c0001t0001g0040 a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0001g0121 a0001c0001t0001g0176 a0001c0001t0001g0190 a0001c0001t0001g0333 a0001c0002t0003g0229 a0001c0002t0003g0236 a0001c0002t0013g0194 a0001c0013t0002g0006 a0002c0004t0002g0324 a0003c0006t0003g0232 a0003c0006t0003g0268	14	348	0.0402	11	c.928 others(26): Show c.928-601_928-600insCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CCGTGTTA others(4): Show CCGTGTTACCCG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	348	0.0029	11	c.928 others(26): Show c.928-596_928-595insGCGTGTTACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CGTGTCAC others(4): Show CGTGTCACCCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	348	0.0029	11	c.928 others(26): Show c.928-606_928-605insGTGTCACCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588075	T T	TACCCGCG others(4): Show TACCCGCGTGTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp2 NA18962.hp2 others(1): Show HG01261.hp2 HG01346.hp2 NA18962.hp2 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0002 a0002c0004t0002 a0001c0001t0001 a0001c0002t0002 a0002c0004t0002	a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0002t0002g0278 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0154 a0001c0002t0002g0278 a0002c0004t0002g0319	4	348	0.0115	11	c.928 others(26): Show c.928-596_928-595insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588091	G G	GCCCCCGT others(4): Show GCCCCCGTGTCA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01952.hp2 HG01891.hp1 HG01952.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0001 a0006c0014t0001 a0001c0001t0001 a0006c0014t0001	a0001c0001t0001g0333 a0006c0014t0001g0008 a0001c0001t0001g0333 a0006c0014t0001g0008	2	348	0.0058	11	c.928 others(26): Show c.928-580_928-570dupCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588095	C C	CCGTGTCA others(4): Show CCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01346.hp2 HG01361.hp1 others(27): Show HG00140.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02145.hp1 HG02602.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18995.hp1 NA19064.hp1 NA19070.hp1 NA19084.hp1 NA20129.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0002c0003 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0007t0006 a0001c0008t0001 a0002c0003t0003 a0002c0004t0002 a0003c0006t0003	a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0057 others(27): Show a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0198 a0001c0001t0001g0239 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0281 a0001c0001t0012g0142 a0001c0002t0001g0025 a0001c0002t0001g0167 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0210 a0001c0002t0003g0053 a0001c0002t0004g0169 a0001c0002t0004g0325 a0001c0002t0005g0197 a0001c0007t0006g0165 a0001c0008t0001g0009 a0002c0003t0003g0122 a0002c0003t0003g0171 a0002c0004t0002g0279 a0002c0004t0002g0304 a0002c0004t0002g0319 a0003c0006t0003g0148	30	348	0.0862	11	c.928 others(26): Show c.928-570_928-569insGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38653617	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01071.hp2 others(19): Show HG00639.hp2 HG01070.hp2 HG01071.hp2 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG01943.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 NA18906.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp2 NA18964.hp2 NA18982.hp1 NA19007.hp2 NA19012.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0008 a0001c0002t0023 a0001c0001t0006 a0001c0002t0008 a0001c0002t0023	a0001c0001t0006g0101 a0001c0001t0006g0161 a0001c0001t0006g0165 others(19): Show a0001c0001t0006g0101 a0001c0001t0006g0161 a0001c0001t0006g0165 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0006g0205 a0001c0001t0006g0218 a0001c0001t0006g0219 a0001c0001t0006g0302 a0001c0002t0008g0008 a0001c0002t0008g0015 a0001c0002t0008g0027 a0001c0002t0008g0032 a0001c0002t0008g0039 a0001c0002t0008g0216 a0001c0002t0023g0080	22	342	0.0643	11	c.25 others(20): Show c.254_*264dupTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	20/20	264		chr12	TogoVar
CPNE8_chr12_38647203_38910591	38653620	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG03017.hp2 HG03239.hp1 others(1): Show HG02698.hp2 HG03017.hp2 HG03239.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0011 a0001c0001t0020 a0001c0003t0011	a0001c0001t0020g0094 a0001c0003t0011g0001 a0001c0003t0011g0002 others(1): Show a0001c0001t0020g0094 a0001c0003t0011g0001 a0001c0003t0011g0002 a0001c0003t0011g0003	4	342	0.0117	11	c.26 others(20): Show c.261_*262insCTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	20/20	261		chr12	TogoVar
CPNE8_chr12_38647203_38910591	38710268	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0285 a0001c0002t0028g0285	1	342	0.0029	11	c.915 others(28): Show c.915-7358_915-7348dupTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00642.hp2 others(56): Show HG00140.hp1 HG00423.hp2 HG00642.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02300.hp1 HG03491.hp2 HG03579.hp1 HG03710.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0014 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0016 a0001c0002t0019 a0001c0002t0025 a0001c0002t0026 a0001c0004t0002	a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0127 others(56): Show a0001c0001t0001g0095 a0001c0001t0001g0111 a0001c0001t0001g0127 a0001c0001t0014g0051 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0002t0002g0079 a0001c0002t0002g0100 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0256 a0001c0002t0002g0263 a0001c0002t0002g0325 a0001c0002t0004g0036 a0001c0002t0004g0056 a0001c0002t0004g0060 a0001c0002t0004g0066 a0001c0002t0004g0297 a0001c0002t0008g0008 a0001c0002t0008g0027 a0001c0002t0008g0032 a0001c0002t0008g0039 a0001c0002t0010g0075 a0001c0002t0010g0077 a0001c0002t0010g0078 a0001c0002t0016g0081 a0001c0002t0016g0082 a0001c0002t0019g0048 a0001c0002t0025g0063 a0001c0002t0026g0042 a0001c0004t0002g0074	59	342	0.1725	11	c.723 others(28): Show c.723-5877_723-5876insCACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38756039	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02615.hp2 HG03471.hp2 others(1): Show HG01934.hp2 HG02615.hp2 HG03471.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0002 a0001c0001t0012 a0001c0002t0002	a0001c0001t0012g0227 a0001c0001t0012g0231 a0001c0002t0002g0221 others(1): Show a0001c0001t0012g0227 a0001c0001t0012g0231 a0001c0002t0002g0221 a0001c0002t0002g0289	4	342	0.0117	11	c.722 others(28): Show c.722+4797_722+4807dupTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902362	A A	AAGAAAAG others(4): Show AAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02074.hp1 NA19002.hp1 HG00438.hp2 HG02074.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0290 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0290	3	342	0.0088	11	c.98+ others(26): Show c.98+3074_98+3075insCTTTCTTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902366	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03540.hp2 HG01261.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0277 a0001c0001t0005g0324 a0001c0001t0004g0277 a0001c0001t0005g0324	2	342	0.0059	11	c.98+ others(26): Show c.98+3070_98+3071insCTTTCTTTCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902370	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02615.hp2 HG03486.hp1 others(3): Show HG02155.hp1 HG02615.hp2 HG03486.hp1 NA18960.hp1 NA18979.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0001 a0001c0001t0005 a0001c0001t0012	a0001c0001t0001g0097 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show a0001c0001t0001g0097 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0230 a0001c0001t0005g0322 a0001c0001t0012g0231	6	342	0.0175	11	c.98+ others(26): Show c.98+3066_98+3067insCTTTCTTTCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902374	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0172 a0001c0001t0017g0172	1	342	0.0029	11	c.98+ others(26): Show c.98+3062_98+3063insCTTTCTTTCTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPPED1_chr16_12654799_12808887	12689217	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp1 HG02630.hp1 HG03516.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0090 a0004c0004t0007g0092 a0004c0004t0007g0090 a0004c0004t0007g0092	2	290	0.0069	11	c.715 others(30): Show c.715+15396_715+15406dupAAAAAAAAAAA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	3/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12713831	T T	TGTAATTC others(4): Show TGTAATTCAGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00609.hp1 others(24): Show HG00140.hp2 HG00597.hp1 HG00609.hp1 HG01109.hp2 HG01884.hp2 HG02040.hp2 HG02056.hp2 HG02165.hp2 HG02300.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG04228.hp2 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18984.hp1 NA18985.hp1 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19062.hp1 NA19077.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0014 a0015	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0014c0012 a0015c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0020 a0001c0001t0044 a0002c0002t0001 a0002c0002t0003 a0002c0002t0023 a0002c0002t0030 a0002c0002t0054 a0002c0002t0057 a0002c0002t0066 a0002c0002t0067 a0003c0003t0002 a0004c0004t0002 a0004c0004t0006 a0004c0004t0032 a0014c0012t0009 a0015c0013t0004	a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0190 others(24): Show a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0003g0264 a0001c0001t0008g0186 a0001c0001t0011g0157 a0001c0001t0020g0274 a0001c0001t0044g0209 a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0003g0112 a0002c0002t0003g0121 a0002c0002t0023g0069 a0002c0002t0023g0071 a0002c0002t0030g0289 a0002c0002t0054g0125 a0002c0002t0057g0131 a0002c0002t0066g0045 a0002c0002t0067g0134 a0003c0003t0002g0187 a0004c0004t0002g0004 a0004c0004t0002g0123 a0004c0004t0002g0129 a0004c0004t0006g0137 a0004c0004t0032g0078 a0014c0012t0009g0061 a0015c0013t0004g0113	27	290	0.0931	11	c.290 others(28): Show c.290-8783_290-8782insCACTGAATTAC	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12783976	A A	ATCCCTGC others(4): Show ATCCCTGCCCCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG02055.hp2 others(14): Show HG01074.hp2 HG01261.hp2 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03516.hp2 HG03579.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0002c0002t0004 a0002c0002t0011 others(9): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0027 a0002c0002t0029 a0002c0002t0049 a0004c0004t0007 a0004c0004t0009 a0004c0004t0012 a0004c0004t0013	a0002c0002t0001g0065 a0002c0002t0001g0076 a0002c0002t0004g0064 others(14): Show a0002c0002t0001g0065 a0002c0002t0001g0076 a0002c0002t0004g0064 a0002c0002t0004g0074 a0002c0002t0011g0066 a0002c0002t0011g0068 a0002c0002t0022g0070 a0002c0002t0023g0069 a0002c0002t0023g0071 a0002c0002t0027g0077 a0002c0002t0029g0067 a0002c0002t0049g0062 a0004c0004t0007g0079 a0004c0004t0009g0072 a0004c0004t0009g0073 a0004c0004t0012g0075 a0004c0004t0013g0091	17	290	0.0586	11	c.71- others(26): Show c.71-2574_71-2573insGGGGGCAGGGA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	1/3			chr16	TogoVar
CPPED1_chr16_12654799_12808887	12803886	T T	TAACCGCG others(4): Show TAACCGCGGGAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0289 a0002c0002t0030g0289	1	290	0.0035	11	c.-11 others(20): Show c.-111_-110insGTCCCGCGGTT	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	1/4	111		chr16	TogoVar
CPPED1_chr16_12654799_12808887	12803887	C C	CGGGGCGG others(4): Show CGGGGCGGGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG01346.hp2 others(20): Show HG01255.hp1 HG01258.hp1 HG01346.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG03834.hp1 HG03927.hp2 NA18747.hp1 NA18972.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp1 NA19077.hp2 NA19091.hp1	a0002 a0004 a0013 a0002 a0004 a0013	a0002c0002 a0002c0006 a0004c0004 others(1): Show a0002c0002 a0002c0006 a0004c0004 a0013c0009	a0002c0002t0001 a0002c0002t0003 a0002c0002t0016 others(10): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0016 a0002c0002t0021 a0002c0002t0047 a0002c0002t0053 a0002c0002t0054 a0002c0002t0057 a0002c0002t0067 a0002c0006t0001 a0004c0004t0002 a0004c0004t0006 a0013c0009t0001	a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0127 others(20): Show a0002c0002t0001g0118 a0002c0002t0001g0122 a0002c0002t0001g0127 a0002c0002t0001g0133 a0002c0002t0003g0121 a0002c0002t0003g0128 a0002c0002t0003g0132 a0002c0002t0016g0135 a0002c0002t0021g0136 a0002c0002t0047g0119 a0002c0002t0053g0126 a0002c0002t0054g0125 a0002c0002t0057g0131 a0002c0002t0067g0134 a0002c0006t0001g0130 a0004c0004t0002g0116 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0123 a0004c0004t0002g0129 a0004c0004t0006g0115 a0004c0004t0006g0137 a0013c0009t0001g0124	23	290	0.0793	11	c.-11 others(20): Show c.-112_-111insAGTCCCGCCCC	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding		1		chr16	TogoVar
CPQ_chr8_96640242_97148501	96854530	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	126	0.0079	11	c.641 others(30): Show c.641+19369_641+19379dupAAAAAAAAAAA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96975311	G G	GAACAGAC others(4): Show GAACAGACCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG01081.hp1 others(86): Show HG00099.hp1 HG00733.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp1 HG01261.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18962.hp2 NA18964.hp1 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0002c0003 a0003c0005 a0004c0006 a0005c0013 a0006c0010 a0007c0009 a0008c0011 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0007t0001 a0001c0008t0001 a0002c0003t0001 a0003c0005t0001 a0004c0006t0001 a0005c0013t0001 a0006c0010t0001 a0007c0009t0001 a0008c0011t0002 a0009c0012t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 others(86): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0004g0083 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0025 a0001c0002t0001g0040 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0081 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0106 a0001c0002t0001g0115 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0002g0004 a0001c0002t0002g0039 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0082 a0001c0002t0003g0001 a0001c0004t0001g0107 a0001c0004t0001g0114 a0001c0007t0001g0038 a0001c0008t0001g0116 a0002c0003t0001g0015 a0002c0003t0001g0053 a0002c0003t0001g0089 a0003c0005t0001g0007 a0003c0005t0001g0068 a0004c0006t0001g0074 a0004c0006t0001g0075 a0005c0013t0001g0043 a0006c0010t0001g0045 a0007c0009t0001g0062 a0008c0011t0002g0037 a0009c0012t0001g0090	89	126	0.7064	11	c.961 others(28): Show c.961+9270_961+9271insACCAGTAACAG	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF2_chr14_92116969_92177145	92165854	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0121 a0001c0001t0121	a0001c0001t0121g0258 a0001c0001t0121g0258	1	388	0.0026	11	c.41 others(22): Show c.4125_*4135dupTTTTTTTTTTT	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding	16/16	4136	INFO_REALIGN_3_PRIME	chr14	TogoVar
CPSF2_chr14_92116969_92177145	92173373	A A	ATAATATA others(4): Show ATAATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0160 a0001c0001t0088g0160	1	388	0.0026	11	c.11 others(24): Show c.11629_*11630insTAATATATACG	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1229		chr14	TogoVar
CPSF4_chr7_99433943_99462373	99446771	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18971.hp1 HG00099.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0101 a0001c0003t0002g0307 a0001c0003t0002g0101 a0001c0003t0002g0307	2	364	0.0055	11	c.155 others(28): Show c.155-1323_155-1313dupTTTTTTTTTTT	CPSF4	ENSG00000160917.15	transcript	ENST00000292476.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)