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
COL9A3_chr20_62812050_62846159	62824187	G G	GCGCGGAG others(25): Show GCGCGGAGTGGCCTCCCGGGGCCCCGTCACCCA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0025 a0025	a0025c0068 a0025c0068	a0025c0068t0001 a0025c0068t0001	a0025c0068t0001g0337 a0025c0068t0001g0337	1	412	0.0024	32	c.520 others(47): Show c.520-255_520-224dupCGGAGTGGCCTCCCGGGGCCCCGTCACCCA CG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC10_chr8_119062247_119113455	119069629	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	388	0.0026	32	c.148 others(49): Show c.148+2201_148+2202insAAAAAAAAAATATATATATATATATATA TATA	COLEC10	ENSG00000184374.3	transcript	ENST00000332843.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
COLEC12_chr18_311737_505701	312207	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02165.hp2 NA18994.hp1 others(1): Show HG02071.hp1 HG02165.hp2 NA18994.hp1 NA19003.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0001 a0003c0002 a0001c0003 a0002c0001 a0003c0002	a0001c0003t0058 a0001c0003t0163 a0002c0001t0071 others(1): Show a0001c0003t0058 a0001c0003t0163 a0002c0001t0071 a0003c0002t0142	a0001c0003t0058g0089 a0001c0003t0163g0281 a0002c0001t0071g0085 others(1): Show a0001c0003t0058g0089 a0001c0003t0163g0281 a0002c0001t0071g0085 a0003c0002t0142g0106	4	366	0.0109	32	c.78 others(43): Show c.7837_*7838insATATATATATATATATATATATATATATATAT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding		4529		chr18	TogoVar
COLQ_chr3_15445133_15526706	15456256	T T	TCAGAGAG others(25): Show TCAGAGAGGGGCTTCTATTTGGGAGTCAGGGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02615.hp2 others(11): Show HG01109.hp2 HG02055.hp1 HG02615.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0028 a0001c0003t0004g0121 a0001c0003t0004g0123 others(10): Show a0001c0003t0004g0028 a0001c0003t0004g0121 a0001c0003t0004g0123 a0001c0003t0004g0272 a0001c0003t0004g0311 a0001c0003t0004g0327 a0001c0003t0004g0331 a0001c0003t0004g0332 a0001c0003t0004g0335 a0001c0003t0004g0337 a0001c0003t0004g0339 a0001c0003t0004g0340 a0001c0003t0004g0341	14	382	0.0367	32	c.107 others(49): Show c.1074+172_1074+203dupCACCCTGACTCCCAAATAGAAGCCCCTC TCTG	COLQ	ENSG00000206561.14	transcript	ENST00000383788.10	protein_coding	14/16			chr3	TogoVar
COMMD10_chr5_116080025_116298287	116212496	C C	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	350	0.0029	32	c.510 others(51): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD10_chr5_116080025_116298287	116212522	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01891.hp1 HG02698.hp1 others(5): Show HG01258.hp2 HG01891.hp1 HG02698.hp1 HG03491.hp2 NA18906.hp1 NA18963.hp2 NA19043.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0004g0197 others(5): Show a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0004g0197 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0177	8	350	0.0229	32	c.510 others(51): Show c.510+78345_510+78346insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTAT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COMMD1_chr2_61900674_62141058	62019023	T T	TTCCCTCC others(25): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02818.hp1 HG02965.hp2 HG01891.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0279 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0279	3	286	0.0105	32	c.462 others(51): Show c.462+18064_462+18065insCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCC	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62063868	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG02055.hp2 others(5): Show HG00558.hp1 HG00597.hp1 HG02055.hp2 HG02129.hp2 HG02155.hp1 HG02615.hp2 HG02738.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0106 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0139 a0001c0001t0001g0152 a0001c0001t0001g0167 a0001c0001t0001g0220	8	286	0.0280	32	c.462 others(51): Show c.462+62916_462+62917insATATATATATATATATATATATATAT ATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD1_chr2_61900674_62141058	62095807	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01258.hp2 HG01943.hp2 others(15): Show HG01167.hp1 HG01258.hp2 HG01943.hp2 HG02257.hp1 HG02523.hp1 HG02647.hp1 HG03130.hp2 HG03209.hp1 HG04115.hp2 NA18962.hp1 NA18980.hp2 NA18993.hp2 NA19000.hp1 NA19057.hp1 NA19065.hp2 NA19072.hp2 NA19082.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0244	18	286	0.0629	32	c.463 others(51): Show c.463-40010_463-40009insATATATATATATATATATATATATAT ATATAT	COMMD1	ENSG00000173163.11	transcript	ENST00000311832.6	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD7_chr20_32697699_32748467	32747854	T T	TAGTGCTA others(25): Show TAGTGCTATTTTTGATATGGTAGGACAGGACTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	400	0.0025	32	c.-44 others(43): Show c.-4464_-4463insTAGTCCTGTCCTACCATATCAAAAATAGCACT	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding		4388		chr20	TogoVar
COMMD9_chr11_36267292_36294424	36270137	T T	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG02622.hp2 HG02965.hp1 others(6): Show HG01175.hp1 HG02622.hp2 HG02965.hp1 HG03139.hp1 HG03688.hp2 NA18956.hp1 NA18960.hp2 NA18974.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0003g0008 others(6): Show a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0018 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0005g0142 a0001c0001t0005g0146	9	448	0.0201	32	c.44 others(43): Show c.4494_*4495insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding		2154		chr11	TogoVar
COP1_chr1_175939831_176212286	175951437	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19084.hp1 NA19066.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0060 a0001c0001t0001g0071	2	300	0.0067	32	c.213 others(51): Show c.2134-4199_2134-4198insATATATATATATATATATATATATAT ATATAT	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	18/19			chr1	TogoVar
COPG1_chr3_129244606_129282773	129247226	G G	GTATATAT others(25): Show GTATATATATGTGTGTGTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0050 a0001c0003t0002g0050	1	326	0.0031	32	c.-24 others(43): Show c.-2484_-2483insTATATATATGTGTGTGTATATATATATATATA	COPG1	ENSG00000181789.14	transcript	ENST00000314797.10	protein_coding		2379		chr3	TogoVar
COPZ2_chr17_48021167_48042797	48026119	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	2	396	0.0051	32	c.30 others(41): Show c.308_*309insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COPZ2	ENSG00000005243.10	transcript	ENST00000621465.5	protein_coding		47		chr17	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	410	0.0024	32	c.114 others(51): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATAGAGA others(25): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03239.hp2 HG03017.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0211 a0001c0003t0001g0331 a0001c0003t0001g0211 a0001c0003t0001g0331	2	410	0.0049	32	c.114 others(51): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATAGA others(25): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0210 a0001c0003t0001g0210	1	410	0.0024	32	c.114 others(51): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTCT CTATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0248 a0001c0004t0001g0248	1	410	0.0024	32	c.114 others(51): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697851	T T	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0343 a0001c0002t0004g0343	1	410	0.0024	32	c.114 others(51): Show c.1144-1798_1144-1797insCTCTCTCTCTCTCTCTCTCTCTATAT ATATAT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697874	A A	AGAGAGAG others(25): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0255 a0001c0004t0001g0255	1	410	0.0024	32	c.114 others(51): Show c.1144-1821_1144-1820insACTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0329 a0001c0002t0001g0329	1	410	0.0024	32	c.114 others(51): Show c.1144-1822_1144-1821insGTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
COQ8B_chr19_40686530_40721886	40697875	G G	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03516.hp1 HG00639.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0020 a0001c0004 a0001c0020	a0001c0004t0001 a0001c0020t0001 a0001c0004t0001 a0001c0020t0001	a0001c0004t0001g0259 a0001c0020t0001g0233 a0001c0004t0001g0259 a0001c0020t0001g0233	2	410	0.0049	32	c.114 others(51): Show c.1144-1822_1144-1821insGTCTCTCTCCCTCTCTCTCTCTCTCT CTCTCT	COQ8B	ENSG00000123815.13	transcript	ENST00000324464.8	protein_coding	12/14			chr19	TogoVar
CORO1A_chr16_30178602_30194076	30190179	T T	TATATATT others(25): Show TATATATTTTAATATATAAATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	342	0.0029	32	c.12 others(43): Show c.1215_*1216insATATATTTTAATATATAAATATATTATATATA	CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding		1104		chr16	TogoVar
CORO1A_chr16_30178602_30194076	30190402	A A	ATATAATA others(25): Show ATATAATAATATAGTATAATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	342	0.0029	32	c.14 others(43): Show c.1438_*1439insTATAATAATATAGTATAATATATAATATATAT	CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding		1327		chr16	TogoVar
CORO2A_chr9_98115975_98197637	98154329	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG04184.hp2 NA18949.hp1 others(1): Show HG00558.hp1 HG04184.hp2 NA18949.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0037 a0001c0001t0038	a0001c0001t0001g0070 a0001c0001t0006g0331 a0001c0001t0037g0166 others(1): Show a0001c0001t0001g0070 a0001c0001t0006g0331 a0001c0001t0037g0166 a0001c0001t0038g0055	4	342	0.0117	32	c.201 others(49): Show c.201+3130_201+3131insTATATATATATATATATATATATATATA TACA	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	2/11			chr9	TogoVar
COTL1_chr16_84560596_84623078	84581163	A A	ATATGTAT others(25): Show ATATGTATGTATGTATGTATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	440	0.0023	32	c.318 others(49): Show c.318+8941_318+8942insCATACATACATACATACATACATACATA CATA	COTL1	ENSG00000103187.8	transcript	ENST00000262428.5	protein_coding	3/3			chr16	TogoVar
COX7A2L_chr2_42344338_42366217	42364250	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG02257.hp1 others(3): Show HG00741.hp1 HG01243.hp2 HG02257.hp1 HG03225.hp2 NA18943.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0003g0003 a0001c0001t0003g0006 a0001c0001t0003g0025	6	406	0.0148	32	c.-30 others(43): Show c.-3090_-3089insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	COX7A2L	ENSG00000115944.15	transcript	ENST00000234301.3	protein_coding		3034		chr2	TogoVar
COX7B2_chr4_46729827_46914245	46754726	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18994.hp2 NA18974.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0184 a0001c0001t0001g0198	2	300	0.0067	32	c.-49 others(51): Show c.-49-19486_-49-19485insTATATATATATATATATATATATATA TATATA	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPA2_chr7_130261863_130294798	130267773	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	400	0.0025	32	c.71+ others(45): Show c.71+852_71+883dupTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	144	0.0069	32	c.193 others(51): Show c.193-42114_193-42113insATATATATATATATATATATATATAT ATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16967893	G G	GTGTGTGT others(25): Show GTGTGTGTATATATGTGCATATATACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA18959.hp1 NA18985.hp2 others(1): Show HG02155.hp1 NA18959.hp1 NA18985.hp2 NA18992.hp2	a0003 a0005 a0036 others(1): Show a0003 a0005 a0036 a0080	a0003c0002 a0005c0003 a0036c0025 others(1): Show a0003c0002 a0005c0003 a0036c0025 a0080c0089	a0003c0002t0002 a0005c0003t0002 a0036c0025t0002 others(1): Show a0003c0002t0002 a0005c0003t0002 a0036c0025t0002 a0080c0089t0002	a0003c0002t0002g0186 a0005c0003t0002g0051 a0036c0025t0002g0189 others(1): Show a0003c0002t0002g0186 a0005c0003t0002g0051 a0036c0025t0002g0189 a0080c0089t0002g0250	4	278	0.0144	32	c.221 others(51): Show c.2213+2966_2213+2997dupTGTGTGTGTATATATGCACATATATA CACACA	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	18/41			chr19	TogoVar
CPB2_chr13_46048186_46110033	46108157	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01074.hp2 HG01358.hp2 others(11): Show HG00621.hp2 HG01074.hp2 HG01358.hp2 HG01952.hp1 HG02074.hp1 HG02145.hp1 HG03688.hp1 NA18747.hp2 NA18947.hp1 NA18952.hp1 NA18957.hp2 NA18982.hp1 NA19057.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0132 a0002c0002t0002g0002 a0002c0002t0002g0016 others(10): Show a0001c0001t0001g0132 a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0099 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0002g0131 a0002c0002t0002g0133	14	330	0.0424	32	c.-31 others(43): Show c.-3149_-3148insTATATATATATATATATATATATATATATATA	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding		3125		chr13	TogoVar
CPD_chr17_30373927_30474989	30470256	C C	CACACGTG others(25): Show CACACGTGTGTATGTATATGTATATACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 NA20300.hp2 HG03490.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0261 a0001c0001t0021g0128 a0001c0001t0001g0261 a0001c0001t0021g0128	2	296	0.0068	32	c.54 others(43): Show c.5442_*5443insACACGTGTGTATGTATATGTATATACATACAT	CPD	ENSG00000108582.12	transcript	ENST00000225719.9	protein_coding		268		chr17	TogoVar
CPED1_chr7_120983711_121302442	121199689	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp1 HG02976.hp2 NA18522.hp1	a0005 a0005	a0005c0011 a0005c0012 a0005c0011 a0005c0012	a0005c0011t0001 a0005c0012t0001 a0005c0011t0001 a0005c0012t0001	a0005c0011t0001g0052 a0005c0012t0001g0079 a0005c0011t0001g0052 a0005c0012t0001g0079	2	140	0.0143	32	c.205 others(53): Show c.2056-37022_2056-37021insGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 NA19001.hp2 others(1): Show HG00544.hp2 HG00597.hp1 NA19001.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0237 a0001c0001t0001g0276 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0237 a0001c0001t0001g0276 a0001c0001t0001g0280	4	332	0.0121	32	c.308 others(49): Show c.308-3203_308-3202insAAAAAAAAAAAAAAAAGAAAGAAAGAAA AAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02056.hp1 others(6): Show HG00423.hp1 HG00597.hp1 HG02056.hp1 HG02293.hp1 HG04204.hp1 NA18963.hp1 NA19056.hp1 NA19080.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0022 a0001c0001t0002 a0001c0001t0006 a0001c0001t0022	a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0006g0002 others(1): Show a0001c0001t0002g0002 a0001c0001t0002g0059 a0001c0001t0006g0002 a0001c0001t0022g0010	9	378	0.0238	32	c.-38 others(41): Show c.-384_-383insGAGAGAGAGAGAGAGAGAGACAGAGAGAGAGA	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		167		chr5	TogoVar
CPM_chr12_68846175_68938171	68847196	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01257.hp1 others(15): Show HG01074.hp2 HG01109.hp2 HG01257.hp1 HG01258.hp1 HG02056.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG04184.hp1 NA18968.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0005 a0002c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0067 others(11): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0067 a0001c0002t0001 a0001c0002t0048 a0001c0002t0062 a0001c0004t0008 a0001c0004t0017 a0001c0006t0008 a0002c0003t0004 a0002c0003t0025 a0002c0003t0028 a0002c0005t0020 a0002c0008t0025	a0001c0001t0001g0091 a0001c0001t0001g0160 a0001c0001t0001g0304 others(14): Show a0001c0001t0001g0091 a0001c0001t0001g0160 a0001c0001t0001g0304 a0001c0001t0004g0203 a0001c0001t0067g0083 a0001c0002t0001g0001 a0001c0002t0001g0283 a0001c0002t0048g0287 a0001c0002t0062g0280 a0001c0004t0008g0233 a0001c0004t0017g0103 a0001c0006t0008g0244 a0002c0003t0004g0314 a0002c0003t0025g0007 a0002c0003t0028g0006 a0002c0005t0020g0316 a0002c0008t0025g0024	18	340	0.0529	32	c.92 others(43): Show c.9240_*9241insTATATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3978		chr12	TogoVar
CPM_chr12_68846175_68938171	68847210	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02922.hp1 HG03471.hp2 others(1): Show HG02572.hp1 HG02922.hp1 HG03471.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0012 a0001c0006t0040 a0002c0003t0015 others(1): Show a0001c0006t0012 a0001c0006t0040 a0002c0003t0015 a0002c0003t0033	a0001c0006t0012g0225 a0001c0006t0040g0242 a0002c0003t0015g0330 others(1): Show a0001c0006t0012g0225 a0001c0006t0040g0242 a0002c0003t0015g0330 a0002c0003t0033g0336	4	340	0.0118	32	c.92 others(43): Show c.9226_*9227insCATATATATATATATATATATATATATATATA	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3964		chr12	TogoVar
CPM_chr12_68846175_68938171	68847211	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0232 a0001c0001t0018g0232	1	340	0.0029	32	c.92 others(43): Show c.9225_*9226insGTATATATATATATATATATATATATATATAT	CPM	ENSG00000135678.12	transcript	ENST00000551568.6	protein_coding		3963		chr12	TogoVar
CPNE3_chr8_86509435_86566498	86524848	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp2 HG02258.hp1 others(11): Show HG00099.hp2 HG01175.hp2 HG02258.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03927.hp1 NA18522.hp1 NA18965.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0002c0005t0005	a0001c0002t0001g0319 a0001c0002t0001g0321 a0001c0002t0001g0322 others(10): Show a0001c0002t0001g0319 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0002g0299 a0001c0002t0002g0335 a0001c0002t0004g0301 a0001c0002t0005g0325 a0001c0002t0005g0326 a0002c0005t0005g0003 a0002c0005t0005g0304 a0002c0005t0005g0320	14	340	0.0412	32	c.-10 others(49): Show c.-10-3665_-10-3664insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPNE4_chr3_131528569_132040014	131978058	A A	AATATATA others(25): Show AATATATATAAATATATATAAATATATATAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA20129.hp2 HG01884.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0001t0011g0093 a0001c0002t0011g0094	2	94	0.0213	32	c.-2+ others(49): Show c.-2+56477_-2+56508dupATTTATATATATTTATATATATTTATAT ATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36788623	A A	AGTATTAC others(25): Show AGTATTACAGGCAGTAACAATCGTTTTACTGCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(43): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG01074.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03486.hp2 HG03669.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18942.hp2 NA18946.hp1 NA18949.hp1 NA18956.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA19043.hp2 NA19067.hp2 NA19080.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0011 a0001c0003t0002 a0001c0004t0002 a0001c0006t0002 a0001c0011t0002	a0001c0001t0001g0027 a0001c0001t0001g0105 a0001c0001t0001g0108 others(43): Show a0001c0001t0001g0027 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0200 a0001c0001t0001g0219 a0001c0001t0001g0258 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0349 a0001c0001t0001g0372 a0001c0001t0003g0122 a0001c0001t0003g0137 a0001c0001t0003g0213 a0001c0001t0004g0135 a0001c0001t0004g0216 a0001c0001t0006g0267 a0001c0001t0008g0377 a0001c0001t0008g0378 a0001c0002t0001g0120 a0001c0002t0001g0165 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0321 a0001c0002t0002g0038 a0001c0002t0002g0203 a0001c0002t0002g0217 a0001c0002t0002g0276 a0001c0002t0004g0049 a0001c0002t0005g0374 a0001c0002t0007g0197 a0001c0002t0007g0199 a0001c0002t0011g0358 a0001c0003t0002g0138 a0001c0003t0002g0142 a0001c0004t0002g0161 a0001c0006t0002g0332 a0001c0011t0002g0048	46	380	0.1211	32	c.528 others(49): Show c.528+3378_528+3409dupAGCAGTAAAACGATTGTTACTGCCTGTA ATAC	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	8/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36788643	T T	TCGTTTTA others(25): Show TCGTTTTACTGCTGTATTACAGGCAGTAACAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(35): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG01168.hp2 HG01169.hp1 HG02015.hp2 HG02080.hp1 HG02523.hp1 HG02698.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18965.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp2 NA18985.hp2 NA18986.hp1 NA19055.hp1 NA19056.hp2 NA19083.hp2 NA19087.hp1 NA19089.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0004c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0003t0012 a0001c0013t0001 a0004c0010t0004	a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0088 others(35): Show a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0259 a0001c0001t0003g0008 a0001c0001t0003g0080 a0001c0001t0003g0083 a0001c0001t0003g0094 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0201 a0001c0001t0003g0224 a0001c0001t0003g0287 a0001c0001t0003g0303 a0001c0001t0003g0352 a0001c0001t0004g0229 a0001c0001t0008g0093 a0001c0001t0008g0117 a0001c0001t0009g0028 a0001c0001t0009g0264 a0001c0001t0015g0240 a0001c0002t0001g0077 a0001c0002t0001g0225 a0001c0002t0002g0355 a0001c0003t0002g0013 a0001c0003t0002g0046 a0001c0003t0002g0081 a0001c0003t0002g0202 a0001c0003t0012g0106 a0001c0013t0001g0029 a0004c0010t0004g0227	38	380	0.1000	32	c.528 others(49): Show c.528+3389_528+3390insGTTGTTACTGCCTGTAATACAGCAGTAA AACG	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	8/20			chr6	TogoVar
CPNE5_chr6_36735775_36844444	36832722	T T	TGGTGTTA others(25): Show TGGTGTTACCTGTCACCAGGTAGATGGTGTCAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00735.hp2 others(41): Show HG00140.hp2 HG00280.hp2 HG00735.hp2 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01952.hp1 HG01975.hp1 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03688.hp1 HG04184.hp2 NA18950.hp2 NA18994.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19068.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0017 a0001c0003t0002 a0001c0003t0006 a0001c0004t0002	a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 others(41): Show a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0185 a0001c0001t0004g0156 a0001c0001t0004g0168 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0189 a0001c0002t0001g0160 a0001c0002t0001g0165 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0180 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0002g0184 a0001c0002t0002g0231 a0001c0002t0005g0163 a0001c0002t0006g0154 a0001c0002t0006g0164 a0001c0002t0017g0183 a0001c0003t0002g0158 a0001c0003t0002g0166 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0182 a0001c0003t0002g0188 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0006g0155 a0001c0004t0002g0161	44	380	0.1158	32	c.95+ others(47): Show c.95+6560_95+6561insCTGACACCATCTACCTGGTGACAGGTAACA CC	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	1/20			chr6	TogoVar
CPNE8_chr12_38647203_38910591	38704826	G G	GTATATAT others(25): Show GTATATATATGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01934.hp2 NA19056.hp1 HG00099.hp2 HG01934.hp2 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0089 a0001c0002t0002g0289 a0001c0002t0002g0006 a0001c0002t0002g0089 a0001c0002t0002g0289	3	342	0.0088	32	c.915 others(49): Show c.915-1906_915-1905insTATATATATATATATATATACACATATA TATA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	13/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38760435	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp2 HG02257.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0235 a0001c0001t0001g0010 a0001c0001t0001g0235	2	342	0.0059	32	c.722 others(47): Show c.722+411_722+412insTATATATATATATATATATATATATATATA TA	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	10/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902393	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19005.hp2 HG03579.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0233 a0001c0001t0001g0134 a0001c0001t0001g0233	2	342	0.0059	32	c.98+ others(47): Show c.98+3043_98+3044insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9725682	A A	ATGTATAT others(25): Show ATGTATATATATGTATATATATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(38): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp2 HG01978.hp1 HG02055.hp1 HG02155.hp1 HG02258.hp2 HG02572.hp2 HG02622.hp1 HG02738.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA19057.hp1 NA19078.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0033 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0313 a0001c0001t0001g0329 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0348 a0001c0001t0001g0357 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0363 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0372	41	440	0.0932	32	c.124 others(49): Show c.1242-266_1242-265insGTATATATATGTATATATATGTGTATAT ATGT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE9_chr3_9698833_9734908	9725682	A A	ATGTATAT others(25): Show ATGTATATATATGTATATATGTGTGTATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp1 HG01192.hp2 others(11): Show HG00639.hp1 HG01074.hp1 HG01192.hp2 HG01256.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02071.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0136 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0309 a0001c0001t0001g0386 a0001c0001t0001g0388 a0001c0001t0001g0390 a0001c0001t0001g0391	14	440	0.0318	32	c.124 others(49): Show c.1242-266_1242-265insGTATATATATGTATATATGTGTGTATAT ATGT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPNE9_chr3_9698833_9734908	9725682	A A	ATGTATAT others(25): Show ATGTATATATATGTATATATGTGTTTATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03490.hp1 HG03492.hp1 others(1): Show HG01496.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0209 a0001c0001t0001g0308 a0001c0001t0001g0014 a0001c0001t0001g0209 a0001c0001t0001g0308	4	440	0.0091	32	c.124 others(49): Show c.1242-266_1242-265insGTATATATATGTATATATGTGTTTATAT ATGT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar

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