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
CPAMD8_chr19_16887951_17031810	17013512	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02451.hp1 others(16): Show HG01891.hp2 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02647.hp1 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 NA18522.hp1 NA20129.hp2	a0002 a0014 a0016 others(15): Show a0002 a0014 a0016 a0017 a0020 a0028 a0030 a0042 a0045 a0060 a0062 a0063 a0075 a0097 a0098 a0100 a0108 a0109	a0002c0017 a0014c0105 a0016c0185 others(16): Show a0002c0017 a0014c0105 a0016c0185 a0017c0147 a0020c0011 a0028c0181 a0028c0182 a0030c0166 a0042c0174 a0045c0051 a0060c0157 a0062c0069 a0063c0144 a0075c0108 a0097c0171 a0098c0172 a0100c0068 a0108c0183 a0109c0184	a0002c0017t0001 a0014c0105t0001 a0016c0185t0001 others(16): Show a0002c0017t0001 a0014c0105t0001 a0016c0185t0001 a0017c0147t0001 a0020c0011t0001 a0028c0181t0002 a0028c0182t0001 a0030c0166t0002 a0042c0174t0001 a0045c0051t0001 a0060c0157t0002 a0062c0069t0001 a0063c0144t0001 a0075c0108t0001 a0097c0171t0002 a0098c0172t0001 a0100c0068t0002 a0108c0183t0001 a0109c0184t0001	a0002c0017t0001g0162 a0014c0105t0001g0140 a0016c0185t0001g0058 others(16): Show a0002c0017t0001g0162 a0014c0105t0001g0140 a0016c0185t0001g0058 a0017c0147t0001g0009 a0020c0011t0001g0020 a0028c0181t0002g0060 a0028c0182t0001g0062 a0030c0166t0002g0059 a0042c0174t0001g0160 a0045c0051t0001g0083 a0060c0157t0002g0142 a0062c0069t0001g0071 a0063c0144t0001g0118 a0075c0108t0001g0141 a0097c0171t0002g0163 a0098c0172t0001g0006 a0100c0068t0002g0159 a0108c0183t0001g0056 a0109c0184t0001g0057	19	278	0.0684	15	c.268 others(32): Show c.268-1770_268-1756dupATTTTATTTTATTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPEB1_chr15_82538201_82652363	82594364	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01361.hp1 others(2): Show HG00639.hp2 HG00735.hp1 HG01361.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0014g0213 others(2): Show a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0014g0213 a0001c0001t0014g0214 a0001c0001t0014g0215	5	354	0.0141	15	c.272 others(34): Show c.272-22847_272-22833dupCTTTTCTTTTCTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB3_chr10_92041692_92296078	92044163	A A	AGATGATG others(8): Show AGATGATGATGATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00438.hp1 others(83): Show HG00140.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp1 HG03239.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp2 NA18989.hp2 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0032 a0001c0001t0045 a0001c0002t0001 a0001c0002t0014 a0001c0003t0001 a0001c0003t0003 a0001c0003t0012 a0001c0003t0018 a0001c0003t0021 a0001c0003t0023 a0001c0003t0027 a0003c0006t0002	a0001c0001t0001g0111 a0001c0001t0002g0006 a0001c0001t0002g0125 others(83): Show a0001c0001t0001g0111 a0001c0001t0002g0006 a0001c0001t0002g0125 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0003g0218 a0001c0001t0005g0247 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0006g0222 a0001c0001t0006g0226 a0001c0001t0006g0228 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0007g0208 a0001c0001t0007g0241 a0001c0001t0011g0217 a0001c0001t0012g0224 a0001c0001t0019g0243 a0001c0001t0019g0244 a0001c0001t0032g0239 a0001c0001t0045g0277 a0001c0002t0001g0055 a0001c0002t0001g0072 a0001c0002t0001g0086 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0014g0060 a0001c0002t0014g0076 a0001c0002t0014g0090 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0001g0141 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0154 a0001c0003t0001g0162 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0169 a0001c0003t0001g0170 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0001g0174 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0001g0178 a0001c0003t0001g0179 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0192 a0001c0003t0001g0196 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0214 a0001c0003t0001g0216 a0001c0003t0003g0159 a0001c0003t0012g0188 a0001c0003t0012g0195 a0001c0003t0018g0160 a0001c0003t0018g0163 a0001c0003t0021g0202 a0001c0003t0023g0197 a0001c0003t0027g0140 a0003c0006t0002g0236	86	278	0.3094	15	c.80 others(26): Show c.8048_*8049insATCATCATCATCATC	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding		2528		chr10	TogoVar
CPEB3_chr10_92041692_92296078	92059325	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02055.hp2 HG02717.hp1 others(2): Show HG01981.hp1 HG02055.hp2 HG02717.hp1 HG02976.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0005 a0001c0003t0001 a0001c0004t0011 others(1): Show a0001c0001t0005 a0001c0003t0001 a0001c0004t0011 a0001c0004t0033	a0001c0001t0005g0247 a0001c0001t0005g0271 a0001c0003t0001g0144 others(2): Show a0001c0001t0005g0247 a0001c0001t0005g0271 a0001c0003t0001g0144 a0001c0004t0011g0252 a0001c0004t0033g0269	5	278	0.0180	15	c.187 others(34): Show c.1870-6887_1870-6886insTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	9/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03098.hp1 NA18999.hp2 HG00735.hp2 HG03098.hp1 NA18999.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0007 a0001c0002t0003 a0003c0006t0002 a0001c0001t0007 a0001c0002t0003 a0003c0006t0002	a0001c0001t0007g0241 a0001c0002t0003g0087 a0003c0006t0002g0236 a0001c0001t0007g0241 a0001c0002t0003g0087 a0003c0006t0002g0236	3	278	0.0108	15	c.-12 others(32): Show c.-12+1193_-12+1207dupTTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289732	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG03209.hp2 others(1): Show HG02630.hp2 HG02717.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 others(1): Show a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0152 a0001c0001t0008g0219	4	278	0.0144	15	c.-12 others(32): Show c.-12+1193_-12+1194insATTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(8): Show TTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	140	0.0071	15	c.540 others(30): Show c.540+710_540+724dupCTTCTTCTTCTTCTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121087665	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02895.hp2 HG02897.hp1 HG01074.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060	3	140	0.0214	15	c.617 others(34): Show c.617-10033_617-10032insTTTTTTTTTTTTTTT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01257.hp2 others(8): Show HG01106.hp1 HG01192.hp1 HG01257.hp2 HG01975.hp1 HG02109.hp2 HG02523.hp1 HG02523.hp2 NA18941.hp1 NA19075.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0118 a0002c0002t0001g0073 a0002c0002t0001g0080 others(8): Show a0001c0001t0001g0118 a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0001g0087 a0002c0002t0001g0100 a0002c0002t0001g0140 a0002c0002t0002g0065 a0002c0002t0002g0069 a0002c0002t0002g0084 a0002c0002t0003g0002 a0002c0002t0004g0116	11	140	0.0786	15	c.617 others(32): Show c.617-8921_617-8907dupAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02976.hp1 HG01433.hp1 HG02976.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0004 a0004c0013t0006 a0001c0001t0004 a0004c0013t0006	a0001c0001t0004g0041 a0004c0013t0006g0035 a0001c0001t0004g0041 a0004c0013t0006g0035	2	140	0.0143	15	c.286 others(32): Show c.2869-632_2869-618dupAAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAGAA others(8): Show AAAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	332	0.0030	15	c.308 others(32): Show c.308-3203_308-3202insAAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AGAAAGAA others(8): Show AGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	332	0.0030	15	c.308 others(32): Show c.308-3204_308-3203insGAAAGAAAGAAAAAG	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8			chr4	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01928.hp1 others(11): Show HG00597.hp2 HG00735.hp1 HG01928.hp1 HG02074.hp2 HG03239.hp2 NA18940.hp2 NA18943.hp2 NA18968.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA19070.hp1 NA19072.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0136 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138	14	388	0.0361	15	c.25+ others(28): Show c.25+650_25+664dupAAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02922.hp1 HG03041.hp2 others(2): Show HG02109.hp2 HG02922.hp1 HG03041.hp2 NA19043.hp2 NA20752.hp1	a0001 a0006 a0010 a0001 a0006 a0010	a0001c0011 a0006c0005 a0010c0015 a0001c0011 a0006c0005 a0010c0015	a0001c0011t0004 a0006c0005t0002 a0010c0015t0001 a0001c0011t0004 a0006c0005t0002 a0010c0015t0001	a0001c0011t0004g0004 a0001c0011t0004g0005 a0006c0005t0002g0252 others(2): Show a0001c0011t0004g0004 a0001c0011t0004g0005 a0006c0005t0002g0252 a0006c0005t0002g0254 a0010c0015t0001g0051	5	268	0.0187	15	c.812 others(32): Show c.8120-481_8120-467dupAAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLX1_chr4_779957_831129	783059	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0127 a0001c0001t0015g0127	1	416	0.0024	15	c.34 others(26): Show c.3441_*3442insTTTTTTTTTTTTTTT	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		1897		chr4	TogoVar
CPLX1_chr4_779957_831129	826446	G G	GGTGGACC others(8): Show GGTGGACCCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0035 a0001c0001t0006g0035	1	416	0.0024	15	c.-48 others(24): Show c.-481_-480insGCCCCCCGGGTCCAC	CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding		318		chr4	TogoVar
CPM_chr12_68846175_68938171	68847187	G G	GTACATTA others(8): Show GTACATTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02738.hp1 NA18986.hp1 HG02523.hp1 HG02738.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0005 a0001c0002t0001 a0001c0006t0005	a0001c0002t0001g0066 a0001c0002t0001g0257 a0001c0006t0005g0296 a0001c0002t0001g0066 a0001c0002t0001g0257 a0001c0006t0005g0296	3	340	0.0088	15	c.92 others(26): Show c.9249_*9250insTATATATATAATGTA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3987		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86512724	A A	AGTAGGCA others(8): Show AGTAGGCAATCAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(124): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01106.hp1 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp1 HG03017.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0008 a0009 a0010	a0001c0001 a0001c0010 a0001c0017 others(5): Show a0001c0001 a0001c0010 a0001c0017 a0002c0003 a0006c0009 a0008c0014 a0009c0015 a0010c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0010t0001 a0001c0017t0001 a0002c0003t0004 a0002c0003t0005 a0006c0009t0002 a0008c0014t0003 a0009c0015t0001 a0010c0016t0008	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 others(124): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0078 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0003g0009 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0036 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0003g0062 a0001c0001t0003g0070 a0001c0001t0003g0081 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0114 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0004g0012 a0001c0001t0004g0018 a0001c0001t0004g0021 a0001c0001t0004g0025 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0006g0011 a0001c0001t0006g0022 a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0067 a0001c0001t0008g0058 a0001c0001t0008g0089 a0001c0001t0008g0090 a0001c0001t0008g0096 a0001c0001t0008g0110 a0001c0001t0008g0116 a0001c0001t0008g0119 a0001c0001t0009g0019 a0001c0001t0013g0130 a0001c0001t0016g0060 a0001c0001t0018g0026 a0001c0001t0020g0007 a0001c0010t0001g0049 a0001c0010t0001g0072 a0001c0017t0001g0105 a0002c0003t0004g0086 a0002c0003t0005g0020 a0002c0003t0005g0027 a0002c0003t0005g0031 a0002c0003t0005g0037 a0002c0003t0005g0065 a0002c0003t0005g0080 a0002c0003t0005g0083 a0002c0003t0005g0095 a0002c0003t0005g0100 a0006c0009t0002g0066 a0006c0009t0002g0084 a0008c0014t0003g0006 a0009c0015t0001g0048 a0010c0016t0008g0079	127	340	0.3735	15	c.-18 others(26): Show c.-1866_-1865insGTAGGCAATCAGGAT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding		1710		chr8	TogoVar
CPNE3_chr8_86509435_86566498	86527946	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03225.hp2 HG02965.hp2 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0139 a0002c0003t0005g0140 a0002c0003t0005g0139 a0002c0003t0005g0140	2	340	0.0059	15	c.-10 others(30): Show c.-10-579_-10-565dupTTTTTTTTTTTTTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86531031	G G	GAATGTTT others(8): Show GAATGTTTCTATTTCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19088.hp2 NA18960.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0183 a0001c0001t0003g0184 a0001c0001t0001g0183 a0001c0001t0003g0184	2	340	0.0059	15	c.313 others(30): Show c.313-119_313-105dupTTTCTATTTCTAATG	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552962	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02129.hp2 HG02698.hp1 others(3): Show HG02083.hp2 HG02129.hp2 HG02698.hp1 NA18964.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0104 others(3): Show a0001c0001t0001g0056 a0001c0001t0001g0082 a0001c0001t0001g0104 a0001c0001t0001g0112 a0001c0001t0001g0146 a0001c0001t0001g0220	6	340	0.0177	15	c.112 others(34): Show c.1120+1730_1120+1744dupCCCCCCCCCCCCCCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE3_chr8_86509435_86566498	86552980	C C	CCCCCCCC others(8): Show CCCCCCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	340	0.0029	15	c.112 others(34): Show c.1120+1748_1120+1749insCCCCCCCCCCCCGCC	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131650744	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0017 a0001c0001t0013g0017	1	94	0.0106	15	c.681 others(34): Show c.681+18916_681+18930dupTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131698233	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0089 a0001c0003t0002g0089	1	94	0.0106	15	c.433 others(32): Show c.433-1632_433-1618dupTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	4/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131700054	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0082 a0001c0002t0002g0082	1	94	0.0106	15	c.361 others(28): Show c.361-89_361-75dupAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131717945	T T	TCTTTCTT others(8): Show TCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	94	0.0106	15	c.360 others(32): Show c.360+5500_360+5501insGAGAAAGAAAGAAAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131737115	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0045 a0001c0003t0003g0045	1	94	0.0106	15	c.181 others(34): Show c.181-13505_181-13491dupAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131801338	T T	TATATATA others(8): Show TATATATATATGTACC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02615.hp2 others(3): Show HG02257.hp1 HG02258.hp2 HG02615.hp2 HG03195.hp2 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0015	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0058 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0058 a0001c0001t0002g0070 a0001c0002t0001g0028 a0001c0005t0015g0091	6	94	0.0638	15	c.181 others(34): Show c.181-77714_181-77713insGGTACATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131848956	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0044 a0001c0003t0001g0044	1	94	0.0106	15	c.180 others(34): Show c.180+56293_180+56307dupTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131876653	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18982.hp2 NA18960.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0002 a0001c0002t0001g0030 a0001c0001t0007g0002 a0001c0002t0001g0030	2	94	0.0213	15	c.180 others(34): Show c.180+28610_180+28611insCTTTCTTTCTTTCTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131955410	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG01169.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0076 a0001c0002t0002g0082 a0001c0001t0002g0076 a0001c0002t0002g0082	2	94	0.0213	15	c.-1- others(32): Show c.-1-49981_-1-49967dupAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978185	A A	ATTTACAT others(8): Show ATTTACATATTTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	94	0.0106	15	c.-2+ others(32): Show c.-2+56381_-2+56382insATATAAATATGTAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131999241	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0094 a0001c0002t0011g0094	1	94	0.0106	15	c.-2+ others(32): Show c.-2+35311_-2+35325dupTTTTTTTTTTTTTTT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132001549	A A	AGAGAAAG others(8): Show AGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0094 a0001c0002t0011g0094	1	94	0.0106	15	c.-2+ others(32): Show c.-2+33017_-2+33018insCTTTCTTTCTTTCTC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36768225	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01168.hp2 others(14): Show HG00735.hp1 HG00741.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01952.hp2 HG01975.hp2 HG02135.hp2 HG02698.hp1 HG03669.hp1 HG04184.hp2 NA18943.hp2 NA18950.hp1 NA18953.hp1 NA18961.hp2 NA19070.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009	a0001c0001t0003g0017 a0001c0001t0003g0037 a0001c0001t0003g0084 others(14): Show a0001c0001t0003g0017 a0001c0001t0003g0037 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0099 a0001c0001t0003g0123 a0001c0001t0003g0133 a0001c0001t0003g0143 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0185 a0001c0001t0003g0224 a0001c0001t0003g0299 a0001c0001t0003g0303 a0001c0001t0003g0359 a0001c0001t0004g0369 a0001c0001t0009g0265	17	380	0.0447	15	c.738 others(32): Show c.738-2864_738-2850dupAAAAAAAAAAAAAAA	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	10/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36834254	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 NA18906.hp2 HG02886.hp1 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 a0001c0001t0001 a0001c0001t0006 a0001c0002t0006	a0001c0001t0001g0059 a0001c0001t0006g0058 a0001c0002t0006g0057 a0001c0001t0001g0059 a0001c0001t0006g0058 a0001c0002t0006g0057	3	380	0.0079	15	c.95+ others(30): Show c.95+5014_95+5028dupTTTTTTTTTTTTTTT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587755	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03927.hp1 NA19074.hp2 HG00621.hp2 HG03927.hp1 NA19074.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0003 a0002c0003t0004 a0003c0006t0003 a0002c0003t0003 a0002c0003t0004 a0003c0006t0003	a0002c0003t0003g0129 a0002c0003t0004g0306 a0003c0006t0003g0147 a0002c0003t0003g0129 a0002c0003t0004g0306 a0003c0006t0003g0147	3	348	0.0086	15	c.927 others(30): Show c.927+656_927+657insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA21309.hp2 NA18944.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0173 a0001c0002t0003g0076 a0001c0001t0001g0173 a0001c0002t0003g0076	2	348	0.0058	15	c.927 others(30): Show c.927+720_927+721insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587883	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0208 a0002c0003t0003g0208	1	348	0.0029	15	c.927 others(30): Show c.927+784_927+785insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587883	A A	AGCCACAG others(8): Show AGCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02145.hp2 HG00621.hp2 HG02145.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0004 a0001c0001t0001 a0002c0003t0004	a0001c0001t0001g0068 a0002c0003t0004g0306 a0001c0001t0001g0068 a0002c0003t0004g0306	2	348	0.0058	15	c.927 others(30): Show c.927+781_927+782insGCCACAGATACACGG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89587920	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG03239.hp2 others(2): Show HG00438.hp2 HG00621.hp2 HG03239.hp2 NA18941.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0002t0003 a0002c0003t0003 a0002c0003t0004	a0001c0001t0001g0277 a0001c0002t0003g0236 a0002c0003t0003g0138 others(2): Show a0001c0001t0001g0277 a0001c0002t0003g0236 a0002c0003t0003g0138 a0002c0003t0003g0208 a0002c0003t0004g0306	5	348	0.0144	15	c.928 others(30): Show c.928-752_928-751insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588038	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA18943.hp1 HG01975.hp1 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0248 a0002c0003t0003g0208 a0001c0001t0001g0248 a0002c0003t0003g0208	2	348	0.0058	15	c.928 others(30): Show c.928-634_928-633insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588128	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01975.hp1 HG02145.hp2 others(4): Show HG00438.hp1 HG01975.hp1 HG02145.hp2 HG02559.hp2 HG02622.hp2 HG06807.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0029 a0002c0004	a0001c0001t0001 a0001c0002t0005 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0002t0005 a0001c0005t0002 a0001c0029t0001 a0002c0004t0002	a0001c0001t0001g0068 a0001c0001t0001g0248 a0001c0002t0005g0019 others(4): Show a0001c0001t0001g0068 a0001c0001t0001g0248 a0001c0002t0005g0019 a0001c0002t0005g0187 a0001c0005t0002g0302 a0001c0029t0001g0270 a0002c0004t0002g0315	7	348	0.0201	15	c.928 others(30): Show c.928-544_928-543insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588165	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01346.hp2 HG02109.hp2 others(3): Show HG00544.hp2 HG01346.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0002c0004t0002	a0001c0001t0001g0221 a0001c0002t0003g0290 a0001c0002t0004g0225 others(3): Show a0001c0001t0001g0221 a0001c0002t0003g0290 a0001c0002t0004g0225 a0001c0002t0004g0226 a0002c0004t0002g0315 a0002c0004t0002g0319	6	348	0.0172	15	c.928 others(30): Show c.928-507_928-506insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588202	A A	ACCCACAG others(8): Show ACCCACAGATACACGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03239.hp2 NA19005.hp2 HG02572.hp2 HG03239.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0002c0004t0002 a0001c0001t0001 a0001c0002t0001 a0002c0004t0002	a0001c0001t0001g0277 a0001c0002t0001g0029 a0002c0004t0002g0332 a0001c0001t0001g0277 a0001c0002t0001g0029 a0002c0004t0002g0332	3	348	0.0086	15	c.928 others(30): Show c.928-470_928-469insACAGATACACGGCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE8_chr12_38647203_38910591	38710268	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	342	0.0029	15	c.915 others(32): Show c.915-7362_915-7348dupTTTTTTTTTTTTTTT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38736234	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01081.hp1 others(16): Show HG00280.hp2 HG00639.hp2 HG01081.hp1 HG01884.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp1 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG03017.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp2 NA18964.hp2 NA18985.hp2 NA18995.hp2 NA19084.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0233 a0001c0001t0003g0166 others(16): Show a0001c0001t0001g0021 a0001c0001t0001g0233 a0001c0001t0003g0166 a0001c0001t0003g0176 a0001c0001t0003g0204 a0001c0001t0003g0245 a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0307 a0001c0001t0006g0194 a0001c0001t0006g0201 a0001c0001t0013g0298 a0001c0001t0013g0299 a0001c0001t0013g0300 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0019	19	342	0.0556	15	c.723 others(32): Show c.723-5877_723-5876insCACACACACACACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902362	A A	AAGAAAGA others(8): Show AAGAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01515.hp2 HG02165.hp2 others(4): Show HG00408.hp1 HG01515.hp2 HG02165.hp2 HG02486.hp1 HG02523.hp1 NA18968.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0281 others(4): Show a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0004g0291 a0001c0001t0018g0286	7	342	0.0205	15	c.98+ others(30): Show c.98+3074_98+3075insCTTTCTTTTCTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902370	A A	AAGAAAAG others(8): Show AAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	342	0.0029	15	c.98+ others(30): Show c.98+3066_98+3067insCTTTCTTTCTTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902374	A A	AAGAAAAG others(8): Show AAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0229 a0001c0001t0012g0229	1	342	0.0029	15	c.98+ others(30): Show c.98+3062_98+3063insCTTTCTTTCTTTTCT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar

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