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
CPLX1_chr4_779957_831129	826344	GGGGGCGG others(5): Show GGGGGCGGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00735.hp2 others(66): Show HG00140.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01257.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02080.hp1 HG02109.hp2 HG02293.hp1 HG02559.hp2 HG02735.hp1 HG02809.hp2 HG03041.hp1 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03579.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18954.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19010.hp2 NA19060.hp2 NA19065.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0025	a0001c0001t0001g0011 a0001c0001t0001g0178 a0001c0001t0001g0179 others(64): Show a0001c0001t0001g0011 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0244 a0001c0001t0002g0289 a0001c0001t0003g0346 a0001c0001t0004g0240 a0001c0001t0007g0012 a0001c0001t0007g0194 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0215 a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0226 a0001c0001t0007g0252 a0001c0001t0007g0253 a0001c0001t0007g0254 a0001c0001t0008g0220 a0001c0001t0008g0247 a0001c0001t0010g0028 a0001c0001t0010g0034 a0001c0001t0010g0209 a0001c0001t0010g0213 a0001c0001t0012g0021 a0001c0001t0012g0022 a0001c0001t0012g0023 a0001c0001t0014g0182 a0001c0001t0025g0210	69	416	0.1659	-12	c.-39 others(21): Show c.-390_-379delGCCCCCCGCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		216		chr4	TogoVar
CPLX1_chr4_779957_831129	826387	GGGGGGTG others(5): Show GGGGGGTGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00741.hp2 others(27): Show HG00280.hp1 HG00323.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01978.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp1 NA18951.hp2 NA18973.hp2 NA18975.hp2 NA19083.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020	a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0341 others(23): Show a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0341 a0001c0001t0001g0387 a0001c0001t0003g0006 a0001c0001t0003g0136 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0357 a0001c0001t0003g0358 a0001c0001t0005g0073 a0001c0001t0008g0342 a0001c0001t0008g0343 a0001c0001t0008g0344 a0001c0001t0008g0345 a0001c0001t0009g0359 a0001c0001t0010g0001 a0001c0001t0010g0004 a0001c0001t0010g0029 a0001c0001t0010g0030 a0001c0001t0010g0031 a0001c0001t0010g0032 a0001c0001t0010g0033 a0001c0001t0020g0027	30	416	0.0721	-12	c.-43 others(21): Show c.-433_-422delGGGTCCACCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		259		chr4	TogoVar
CPLX1_chr4_779957_831129	826409	GCGGGGGT others(5): Show GCGGGGGTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02486.hp1 HG02647.hp1 others(1): Show HG01496.hp2 HG02486.hp1 HG02647.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0003g0080 a0001c0001t0004g0125 a0001c0001t0006g0081 others(1): Show a0001c0001t0003g0080 a0001c0001t0004g0125 a0001c0001t0006g0081 a0001c0001t0006g0377	4	416	0.0096	-12	c.-45 others(21): Show c.-455_-444delGGTCCACCCCCG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		281		chr4	TogoVar
CPLX1_chr4_779957_831129	826454	GGGGGGTG others(5): Show GGGGGGTGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02015.hp1 HG02165.hp2 others(21): Show HG00673.hp1 HG02015.hp1 HG02165.hp2 HG02735.hp2 HG03017.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03942.hp2 HG04184.hp2 NA18944.hp1 NA18946.hp2 NA18954.hp1 NA18964.hp1 NA18966.hp2 NA18975.hp1 NA18992.hp1 NA18995.hp1 NA19007.hp2 NA19056.hp2 NA19079.hp2 NA19085.hp2 NA19091.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0001t0029	a0001c0001t0001g0212 a0001c0001t0001g0383 a0001c0001t0001g0385 others(20): Show a0001c0001t0001g0212 a0001c0001t0001g0383 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0003g0020 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0003g0364 a0001c0001t0003g0365 a0001c0001t0003g0366 a0001c0001t0003g0367 a0001c0001t0003g0369 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0375 a0001c0001t0003g0380 a0001c0001t0003g0381 a0001c0001t0003g0384 a0001c0001t0005g0363 a0001c0001t0005g0371 a0001c0001t0005g0372 a0001c0001t0018g0024 a0001c0001t0029g0362	24	416	0.0577	-12	c.-50 others(21): Show c.-500_-489delGGGTCCACCCCC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		326		chr4	TogoVar
CPLX1_chr4_779957_831129	826476	GCGGGGGT others(5): Show GCGGGGGTGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG04204.hp2 NA20905.hp2 HG01099.hp1 HG04204.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0005 a0001c0001t0009 a0001c0001t0028	a0001c0001t0005g0059 a0001c0001t0009g0058 a0001c0001t0028g0042 a0001c0001t0005g0059 a0001c0001t0009g0058 a0001c0001t0028g0042	3	416	0.0072	-12	c.-52 others(21): Show c.-522_-511delGGTCCACCCCCG	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		348		chr4	TogoVar
CPLX4_chr18_59290402_59323649	59310947	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00544.hp1 HG00597.hp1 others(43): Show HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG01109.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02165.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03654.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18968.hp1 NA18972.hp1 NA18973.hp2 NA18984.hp1 NA18988.hp2 NA18994.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19062.hp1 NA19068.hp1 NA19072.hp1 NA19079.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0040 a0001c0001t0042 a0001c0002t0002	a0001c0001t0001g0120 a0001c0001t0003g0156 a0001c0001t0003g0249 others(28): Show a0001c0001t0001g0120 a0001c0001t0003g0156 a0001c0001t0003g0249 a0001c0001t0005g0003 a0001c0001t0005g0140 a0001c0001t0005g0205 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0246 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0005g0257 a0001c0001t0006g0269 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0008g0284 a0001c0001t0008g0285 a0001c0001t0008g0286 a0001c0001t0008g0287 a0001c0001t0014g0065 a0001c0001t0014g0066 a0001c0001t0017g0288 a0001c0001t0017g0289 a0001c0001t0017g0291 a0001c0001t0018g0029 a0001c0001t0020g0290 a0001c0001t0040g0250 a0001c0001t0042g0245 a0001c0002t0002g0042	46	418	0.1101	-12	c.255 others(29): Show c.255+1726_255+1737delACACACACACAC	CPLX4	ENSG00000166569.8	transcript	ENST00000299721.3	protein_coding	2/2			chr18	TogoVar
CPM_chr12_68846175_68938171	68870752	TGTCTCAG others(5): Show TGTCTCAGAAAGA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	340	0.0029	-12	c.432 others(27): Show c.432-365_432-354delTCTTTCTGAGAC	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	4/8			chr12	TogoVar
CPM_chr12_68846175_68938171	68917997	TTCCTGCA others(5): Show TTCCTGCACCATA	T T	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18991.hp2 NA19057.hp2 NA18961.hp1 NA18991.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 a0001c0001t0001 a0001c0002t0001 a0001c0002t0010	a0001c0001t0001g0094 a0001c0002t0001g0306 a0001c0002t0010g0093 a0001c0001t0001g0094 a0001c0002t0001g0306 a0001c0002t0010g0093	3	340	0.0088	-12	c.160 others(31): Show c.160+14669_160+14680delTATGGTGCAGGA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPM_chr12_68846175_68938171	68923158	AGAGTGTG others(5): Show AGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02055.hp2 HG02145.hp2 others(10): Show HG01123.hp1 HG02055.hp2 HG02145.hp2 HG02523.hp1 HG02809.hp1 HG02970.hp2 NA18967.hp2 NA18973.hp2 NA18977.hp1 NA18994.hp2 NA19010.hp2 NA19072.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0002t0031 a0001c0002t0061 a0002c0003t0003 a0002c0009t0001	a0001c0001t0001g0248 a0001c0001t0002g0303 a0001c0002t0001g0034 others(10): Show a0001c0001t0001g0248 a0001c0001t0002g0303 a0001c0002t0001g0034 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0066 a0001c0002t0007g0247 a0001c0002t0031g0050 a0001c0002t0061g0046 a0002c0003t0003g0015 a0002c0003t0003g0033 a0002c0009t0001g0311	13	340	0.0382	-12	c.160 others(29): Show c.160+9508_160+9519delACACACACACTC	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding	2/8			chr12	TogoVar
CPM_chr12_68846175_68938171	68935243	ATTGTTTG others(5): Show ATTGTTTGTTTGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA19043.hp1 HG02615.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0315 a0002c0003t0004g0314 a0002c0003t0003g0315 a0002c0003t0004g0314	2	340	0.0059	-12	c.-21 others(23): Show c.-2117_-2106delACAAACAAACAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		2073		chr12	TogoVar
CPM_chr12_68846175_68938171	68935266	GTTTGTTT others(5): Show GTTTGTTTGTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	340	0.0029	-12	c.-21 others(23): Show c.-2140_-2129delAAAACAAACAAA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		2096		chr12	TogoVar
CPN2_chr3_194334768_194356328	194349775	CTTCTTTT others(5): Show CTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0006 a0004c0003t0006	a0004c0003t0006g0079 a0004c0003t0006g0081 a0004c0003t0006g0079 a0004c0003t0006g0081	2	440	0.0046	-12	c.-4+ others(27): Show c.-4+1455_-4+1466delAAAAAAAAAGAA	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPN2_chr3_194334768_194356328	194349778	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01074.hp2 others(21): Show HG00323.hp1 HG00323.hp2 HG01074.hp2 HG01516.hp2 HG01884.hp2 HG01993.hp2 HG02109.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG03540.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18969.hp2 NA18984.hp2 NA19030.hp2 NA19043.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0020 a0002c0002 others(3): Show a0001c0001 a0001c0020 a0002c0002 a0003c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0027 a0001c0020t0001 others(4): Show a0001c0001t0001 a0001c0001t0027 a0001c0020t0001 a0002c0002t0003 a0003c0004t0004 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0180 a0001c0001t0001g0183 others(12): Show a0001c0001t0001g0020 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0027g0178 a0001c0020t0001g0177 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0179 a0003c0004t0004g0009 a0003c0004t0004g0075 a0003c0004t0004g0131 a0003c0004t0004g0135 a0003c0004t0004g0139 a0005c0006t0001g0136 a0006c0007t0001g0133	24	440	0.0546	-12	c.-4+ others(27): Show c.-4+1452_-4+1463delAAAAAAAAAAAA	CPN2	ENSG00000178772.7	transcript	ENST00000323830.4	protein_coding	1/1			chr3	TogoVar
CPNE1_chr20_35621044_35669900	35646252	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03579.hp1 HG02280.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0116 a0003c0003t0001g0117	2	272	0.0074	-12	c.1-1 others(27): Show c.1-13341_1-13330delTTTTTTTTTTTT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	1/15			chr20	TogoVar
CPNE1_chr20_35621044_35669900	35658802	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02293.hp2 HG02723.hp1 others(1): Show HG01261.hp2 HG02293.hp2 HG02723.hp1 NA18747.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0130 a0001c0001t0001g0211 a0001c0001t0001g0213 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0211 a0001c0001t0001g0213 a0005c0006t0001g0038	4	272	0.0147	-12	c.-1+ others(27): Show c.-1+5946_-1+5957delGTGTGTGTGTGT	CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	1/15			chr20	TogoVar
CPNE2_chr16_57087583_57153369	57118648	AGATGGAT others(5): Show AGATGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA19240.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0127 a0001c0001t0001g0157	2	362	0.0055	-12	c.508 others(27): Show c.508-515_508-504delGGATGGATGGAT	CPNE2	ENSG00000140848.17	transcript	ENST00000290776.13	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE3_chr8_86509435_86566498	86522548	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03490.hp2 NA18964.hp2 HG00323.hp2 HG03490.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0004 a0001c0001t0001 a0001c0001t0003 a0002c0003t0004	a0001c0001t0001g0146 a0001c0001t0003g0199 a0002c0003t0004g0200 a0001c0001t0001g0146 a0001c0001t0003g0199 a0002c0003t0004g0200	3	340	0.0088	-12	c.-10 others(29): Show c.-10-5970_-10-5959delTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86533024	TTATCTAT others(5): Show TTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG02074.hp2 others(10): Show HG00558.hp2 HG00609.hp1 HG02074.hp2 HG02145.hp1 HG02922.hp2 HG03041.hp1 HG03195.hp2 NA18943.hp1 NA18960.hp1 NA18993.hp2 NA19043.hp2 NA19063.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0006	a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0001g0210 others(10): Show a0001c0001t0001g0189 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0235 a0001c0001t0001g0261 a0001c0001t0004g0208 a0001c0001t0004g0232 a0001c0001t0007g0138 a0001c0002t0006g0267 a0001c0002t0006g0268 a0001c0002t0006g0269 a0001c0002t0006g0270	13	340	0.0382	-12	c.459 others(27): Show c.459+478_459+489delATCTATCTATCT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131547490	AAAAAAAA others(5): Show AAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02451.hp2 others(2): Show HG01884.hp1 HG02257.hp1 HG02451.hp2 HG02922.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0011 a0001c0004t0001 a0001c0002t0001 a0001c0002t0011 a0001c0004t0001	a0001c0002t0001g0006 a0001c0002t0001g0028 a0001c0002t0011g0094 others(2): Show a0001c0002t0001g0006 a0001c0002t0001g0028 a0001c0002t0011g0094 a0001c0004t0001g0007 a0001c0004t0001g0009	5	94	0.0532	-12	c.130 others(31): Show c.1302+2445_1302+2456delGTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	14/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131580388	CTATACAT others(5): Show CTATACATATACA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02683.hp2 others(10): Show HG01169.hp2 HG02602.hp1 HG02683.hp2 HG03041.hp1 HG03195.hp1 HG03239.hp1 NA18939.hp2 NA18960.hp2 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18990.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001 a0001c0003t0016	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0059 others(10): Show a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0009g0067 a0001c0002t0001g0030 a0001c0002t0001g0039 a0001c0002t0002g0082 a0001c0002t0003g0063 a0001c0002t0009g0068 a0001c0003t0001g0018 a0001c0003t0016g0092	13	94	0.1383	-12	c.867 others(29): Show c.867+1179_867+1190delTGTATATGTATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	9/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131586726	ATCTGTCT others(5): Show ATCTGTCTGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02735.hp1 HG02559.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0016 a0001c0001t0001g0043	2	94	0.0213	-12	c.780 others(27): Show c.780+746_780+757delCAGACAGACAGA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	8/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131615917	ACACACAC others(5): Show ACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG02257.hp2 others(2): Show HG00738.hp1 HG01169.hp1 HG02257.hp2 HG03195.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0001 a0001c0005t0004 a0001c0005t0015 others(1): Show a0001c0003t0001 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0003t0001g0005 a0001c0005t0004g0024 a0001c0005t0004g0026 others(2): Show a0001c0003t0001g0005 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091 a0001c0006t0004g0008	5	94	0.0532	-12	c.682 others(31): Show c.682-28347_682-28336delCGTGTGTGTGTG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131676029	CTATTATT others(5): Show CTATTATTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG02257.hp2 others(14): Show HG00738.hp1 HG01169.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02896.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0003t0010 a0001c0005t0004 a0001c0005t0015 a0001c0006t0004	a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0002g0069 others(14): Show a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0088 a0001c0002t0001g0013 a0001c0002t0001g0029 a0001c0003t0001g0044 a0001c0003t0010g0087 a0001c0005t0004g0024 a0001c0005t0004g0026 a0001c0005t0015g0091 a0001c0006t0004g0008	17	94	0.1809	-12	c.592 others(29): Show c.592-6277_592-6266delATAATAATAATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	6/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131717874	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18522.hp2 HG04228.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0001 a0001c0001t0005 a0001c0003t0001	a0001c0001t0005g0084 a0001c0003t0001g0005 a0001c0001t0005g0084 a0001c0003t0001g0005	2	94	0.0213	-12	c.360 others(29): Show c.360+5560_360+5571delGAAAGAAAGAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131799919	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03225.hp1 HG02486.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0010	a0001c0001t0002g0069 a0001c0003t0010g0087 a0001c0001t0002g0069 a0001c0003t0010g0087	2	94	0.0213	-12	c.181 others(31): Show c.181-76306_181-76295delCACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131814572	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01169.hp1 HG02622.hp2 others(4): Show HG00738.hp1 HG01169.hp1 HG02622.hp2 HG02922.hp1 HG03516.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0005t0004	a0001c0001t0001g0011 a0001c0001t0002g0080 a0001c0001t0002g0085 others(4): Show a0001c0001t0001g0011 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0002t0001g0049 a0001c0004t0001g0009 a0001c0005t0004g0024 a0001c0005t0004g0026	7	94	0.0745	-12	c.180 others(31): Show c.180+90680_180+90691delAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131861402	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02615.hp1 HG02922.hp2 others(2): Show HG01496.hp1 HG02615.hp1 HG02922.hp2 HG04199.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0012	a0001c0001t0001g0010 a0001c0001t0002g0088 a0001c0002t0001g0031 others(2): Show a0001c0001t0001g0010 a0001c0001t0002g0088 a0001c0002t0001g0031 a0001c0002t0001g0049 a0001c0002t0012g0025	5	94	0.0532	-12	c.180 others(31): Show c.180+43850_180+43861delCACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131876239	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02451.hp2 HG02572.hp2 others(6): Show HG01069.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp2 HG02896.hp1 HG04199.hp1 HG04228.hp1 NA18906.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001	a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 others(6): Show a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0005g0077 a0001c0002t0001g0006 a0001c0002t0001g0048 a0001c0002t0001g0049	9	94	0.0957	-12	c.180 others(31): Show c.180+29013_180+29024delATTTATTTATTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942461	TGTGAGAG others(5): Show TGTGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18960.hp2 NA18962.hp1 others(3): Show NA18939.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18971.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0009	a0001c0001t0001g0059 a0001c0001t0005g0073 a0001c0001t0009g0067 others(3): Show a0001c0001t0001g0059 a0001c0001t0005g0073 a0001c0001t0009g0067 a0001c0002t0001g0030 a0001c0002t0001g0039 a0001c0002t0009g0068	6	94	0.0638	-12	c.-1- others(29): Show c.-1-37029_-1-37018delTCTCTCTCTCAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942463	TGAGAGAG others(5): Show TGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG03516.hp2 others(1): Show HG02257.hp1 HG02258.hp2 HG03516.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0002g0072 others(1): Show a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0002g0072 a0001c0002t0001g0028	4	94	0.0426	-12	c.-1- others(29): Show c.-1-37031_-1-37020delTCTCTCTCTCTC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131953238	TTAAAAAA others(5): Show TTAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0086 a0001c0004t0010g0086	1	94	0.0106	-12	c.-1- others(29): Show c.-1-47806_-1-47795delTTTTTTTTTTTA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132001553	GAGAAAGA others(5): Show GAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0014 a0001c0003t0001g0014	1	94	0.0106	-12	c.-2+ others(29): Show c.-2+33002_-2+33013delTTCTTTCTTTCT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005338	TATATACA others(5): Show TATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	94	0.0106	-12	c.-2+ others(29): Show c.-2+29217_-2+29228delGTGTGTGTATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005340	TATACACA others(5): Show TATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0012	1	94	0.0106	-12	c.-2+ others(29): Show c.-2+29215_-2+29226delGTGTGTGTGTAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005342	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02647.hp1 HG02647.hp2 others(3): Show HG01496.hp2 HG02647.hp1 HG02647.hp2 HG02895.hp1 NA19007.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0060 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0013g0017 a0001c0002t0001g0046 a0001c0003t0001g0044	6	94	0.0638	-12	c.-2+ others(29): Show c.-2+29213_-2+29224delGTGTGTGTGTGT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36767616	ACCAACAC others(5): Show ACCAACACCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02717.hp2 others(3): Show HG02486.hp1 HG02630.hp2 HG02717.hp2 HG03098.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0006 a0001c0003t0006 a0001c0002t0001 a0001c0002t0006 a0001c0003t0006	a0001c0002t0001g0055 a0001c0002t0001g0160 a0001c0002t0001g0294 others(3): Show a0001c0002t0001g0055 a0001c0002t0001g0160 a0001c0002t0001g0294 a0001c0002t0001g0321 a0001c0002t0006g0056 a0001c0003t0006g0155	6	380	0.0158	-12	c.738 others(29): Show c.738-2252_738-2241delGGCTGGTGTTGG	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36777764	CACCACAC others(5): Show CACCACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01884.hp1 others(19): Show HG00639.hp1 HG00639.hp2 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02280.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03490.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0003t0002 a0001c0006t0002	a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0002t0001g0010 others(19): Show a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0002t0001g0010 a0001c0002t0001g0165 a0001c0002t0001g0244 a0001c0002t0001g0251 a0001c0002t0001g0270 a0001c0002t0003g0148 a0001c0002t0005g0060 a0001c0002t0005g0347 a0001c0002t0005g0375 a0001c0002t0006g0057 a0001c0002t0006g0154 a0001c0002t0006g0241 a0001c0002t0006g0308 a0001c0002t0006g0328 a0001c0002t0017g0183 a0001c0003t0002g0068 a0001c0003t0002g0139 a0001c0003t0002g0211 a0001c0003t0002g0218 a0001c0006t0002g0348	22	380	0.0579	-12	c.632 others(29): Show c.632+1078_632+1089delTGTGTGTGTGGT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	9/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36782816	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03516.hp1 NA19066.hp1 others(1): Show HG03130.hp1 HG03516.hp1 NA19066.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0003t0002	a0001c0001t0001g0041 a0001c0002t0001g0244 a0001c0002t0006g0313 others(1): Show a0001c0001t0001g0041 a0001c0002t0001g0244 a0001c0002t0006g0313 a0001c0003t0002g0068	4	380	0.0105	-12	c.529 others(29): Show c.529-3871_529-3860delGTGTGTGTGTGT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	8/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36834268	AAAAAAAA others(5): Show AAAAAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG01943.hp1 others(2): Show HG00280.hp1 HG01358.hp2 HG01943.hp1 HG02148.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0001t0001 a0001c0001t0004 a0001c0003t0002	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(2): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0004g0232 a0001c0003t0002g0236	5	380	0.0132	-12	c.95+ others(27): Show c.95+5003_95+5014delCCTTTTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587811	CCCGTGTC others(5): Show CCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02071.hp2 HG03471.hp2 others(2): Show HG01361.hp1 HG02071.hp2 HG03471.hp2 HG03669.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0040 a0001c0001t0001g0220 a0001c0001t0001g0239 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0220 a0001c0001t0001g0239 a0001c0001t0001g0281 a0001c0001t0012g0142	5	348	0.0144	-12	c.927 others(27): Show c.927+711_927+722delCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587875	CCCGTGTC others(5): Show CCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 HG02683.hp2 others(7): Show HG01123.hp2 HG01891.hp2 HG02683.hp2 HG02896.hp2 HG03139.hp2 HG03516.hp2 HG03927.hp1 NA18994.hp1 NA19010.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0005t0002 a0001c0008t0002 a0002c0003t0002 a0002c0003t0003	a0001c0001t0001g0098 a0001c0001t0001g0242 a0001c0002t0001g0322 others(7): Show a0001c0001t0001g0098 a0001c0001t0001g0242 a0001c0002t0001g0322 a0001c0002t0002g0024 a0001c0002t0004g0110 a0001c0002t0004g0326 a0001c0005t0002g0323 a0001c0008t0002g0010 a0002c0003t0002g0312 a0002c0003t0003g0129	10	348	0.0287	-12	c.927 others(27): Show c.927+775_927+786delCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588026	GCCCCCCG others(5): Show GCCCCCCGTGTCA	G G	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19087.hp1 NA19004.hp2 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0125 a0002c0003t0003g0170 a0002c0003t0003g0125 a0002c0003t0003g0170	2	348	0.0058	-12	c.928 others(27): Show c.928-645_928-634delCCCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588030	CCCGTGTC others(5): Show CCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02055.hp1 HG02273.hp1 others(2): Show HG02027.hp1 HG02055.hp1 HG02273.hp1 HG03516.hp2 NA18959.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0002c0003t0003	a0001c0001t0001g0184 a0001c0002t0001g0322 a0001c0005t0002g0107 others(2): Show a0001c0001t0001g0184 a0001c0002t0001g0322 a0001c0005t0002g0107 a0002c0003t0003g0171 a0002c0003t0003g0207	5	348	0.0144	-12	c.928 others(27): Show c.928-643_928-632delCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89597780	CCCACCCA others(5): Show CCCACCCATCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00423.hp2 others(70): Show HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02809.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG03688.hp2 HG03927.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18971.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18994.hp1 NA19000.hp1 NA19005.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0010	a0001c0002 a0001c0005 a0001c0008 others(7): Show a0001c0002 a0001c0005 a0001c0008 a0001c0012 a0001c0013 a0001c0024 a0002c0003 a0002c0004 a0009c0019 a0010c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(11): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0005t0002 a0001c0008t0002 a0001c0012t0002 a0001c0013t0002 a0001c0024t0001 a0002c0003t0002 a0002c0004t0002 a0002c0004t0014 a0009c0019t0002 a0010c0018t0002	a0001c0002t0001g0322 a0001c0002t0002g0004 a0001c0002t0002g0022 others(65): Show a0001c0002t0001g0322 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0032 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0084 a0001c0002t0002g0196 a0001c0002t0002g0199 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0209 a0001c0002t0002g0210 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0264 a0001c0002t0002g0278 a0001c0002t0002g0316 a0001c0002t0002g0338 a0001c0002t0004g0325 a0001c0002t0005g0020 a0001c0002t0005g0074 a0001c0002t0005g0289 a0001c0002t0005g0291 a0001c0005t0002g0002 a0001c0005t0002g0003 a0001c0005t0002g0043 a0001c0005t0002g0056 a0001c0005t0002g0072 a0001c0005t0002g0107 a0001c0005t0002g0193 a0001c0005t0002g0212 a0001c0005t0002g0240 a0001c0005t0002g0247 a0001c0005t0002g0250 a0001c0005t0002g0302 a0001c0005t0002g0303 a0001c0005t0002g0317 a0001c0005t0002g0323 a0001c0008t0002g0015 a0001c0012t0002g0296 a0001c0012t0002g0297 a0001c0013t0002g0006 a0001c0024t0001g0218 a0002c0003t0002g0119 a0002c0003t0002g0153 a0002c0003t0002g0312 a0002c0004t0002g0001 a0002c0004t0002g0016 a0002c0004t0002g0279 a0002c0004t0002g0301 a0002c0004t0002g0304 a0002c0004t0002g0307 a0002c0004t0002g0308 a0002c0004t0002g0309 a0002c0004t0002g0314 a0002c0004t0002g0315 a0002c0004t0002g0319 a0002c0004t0002g0324 a0002c0004t0002g0332 a0002c0004t0014g0305 a0009c0019t0002g0253 a0010c0018t0002g0246	73	348	0.2098	-12	c.11 others(23): Show c.1160_*1171delCCACCCATCCGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		535		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598071	CCCACCCA others(5): Show CCCACCCATCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG02572.hp1 HG01516.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0001g0070 a0001c0001t0001g0079	2	348	0.0058	-12	c.14 others(23): Show c.1451_*1462delCCACCCATCCGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		826		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598271	TCCACCCA others(5): Show TCCACCCATCCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02717.hp2 HG03579.hp2 HG00639.hp1 HG02717.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0001 a0001c0015t0001 a0001c0002t0001 a0001c0015t0001	a0001c0002t0001g0287 a0001c0002t0001g0331 a0001c0015t0001g0330 a0001c0002t0001g0287 a0001c0002t0001g0331 a0001c0015t0001g0330	3	348	0.0086	-12	c.16 others(23): Show c.1651_*1662delCCACCCATCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1026		chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598290	GTCCGTCC others(5): Show GTCCGTCCACCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03139.hp2 HG03942.hp2 HG02809.hp2 HG03139.hp2 HG03942.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0020 a0001c0001 a0001c0008 a0004c0020	a0001c0001t0001 a0001c0008t0002 a0004c0020t0001 a0001c0001t0001 a0001c0008t0002 a0004c0020t0001	a0001c0001t0001g0179 a0001c0008t0002g0010 a0004c0020t0001g0340 a0001c0001t0001g0179 a0001c0008t0002g0010 a0004c0020t0001g0340	3	348	0.0086	-12	c.16 others(23): Show c.1670_*1681delTCCGTCCACCCA	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		1045		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38717429	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	342	0.0029	-12	c.914 others(29): Show c.914+6331_914+6342delTATATATATATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38738807	TTTTTTTT others(5): Show TTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG01169.hp2 HG00639.hp1 HG01074.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0073 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0001t0002g0073 a0001c0002t0002g0071 a0001c0002t0002g0072	3	342	0.0088	-12	c.723 others(29): Show c.723-8461_723-8450delGAAAAAAAAAAA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38867305	AGTGTGTG others(5): Show AGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02622.hp2 HG01109.hp1 HG01884.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0306 a0001c0001t0003g0301 a0001c0001t0003g0304 a0001c0001t0003g0306	3	342	0.0088	-12	c.186 others(29): Show c.186+5687_186+5698delACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	3/19			chr12	TogoVar

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