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
CPNE4_chr3_131528569_132040014	131615913	ACACACAC others(9): Show ACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG03209.hp1 others(3): Show HG02258.hp1 HG02647.hp1 HG03209.hp1 HG03516.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0003t0001 a0001c0001t0001 a0001c0001t0011 a0001c0003t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0011g0093 a0001c0003t0001g0019 a0001c0003t0001g0044	6	94	0.0638	-16	c.682 others(35): Show c.682-28347_682-28332delCGTGTGTGTGTGTGTG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	7/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131708957	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	94	0.0106	-16	c.361 others(33): Show c.361-8993_361-8978delATATATATATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131717874	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0039 a0001c0002t0001g0039	1	94	0.0106	-16	c.360 others(33): Show c.360+5556_360+5571delGAAAGAAAGAAAGAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	3/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792693	ATACATAT others(9): Show ATACATATACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0092 a0001c0003t0016g0092	1	94	0.0106	-16	c.181 others(35): Show c.181-69084_181-69069delCGTGTGTGTATATGTA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131814572	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18939.hp1 NA18990.hp2 others(1): Show HG01081.hp2 NA18939.hp1 NA18990.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0002t0014 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0014 a0001c0003t0001	a0001c0001t0001g0040 a0001c0001t0009g0067 a0001c0002t0014g0065 others(1): Show a0001c0001t0001g0040 a0001c0001t0009g0067 a0001c0002t0014g0065 a0001c0003t0001g0019	4	94	0.0426	-16	c.180 others(35): Show c.180+90676_180+90691delAAAAAAAAAAAAAAAA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131861402	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02602.hp1 HG02622.hp2 others(9): Show HG01169.hp2 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG04228.hp2 NA18962.hp2 NA18966.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0005t0015	a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0056 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0005g0084 a0001c0001t0008g0064 a0001c0002t0002g0082 a0001c0005t0015g0091	12	94	0.1277	-16	c.180 others(35): Show c.180+43846_180+43861delCACACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131911543	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG01884.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0016 a0001c0005t0001g0012 a0001c0001t0001g0016 a0001c0005t0001g0012	2	94	0.0213	-16	c.-1- others(31): Show c.-1-6115_-1-6100delCACACACACACACACA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942461	TGTGAGAG others(9): Show TGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0012 a0001c0005t0001g0012	1	94	0.0106	-16	c.-1- others(33): Show c.-1-37033_-1-37018delTCTCTCTCTCTCTCAC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131942463	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG03041.hp1 others(2): Show HG02451.hp1 HG02572.hp1 HG03041.hp1 NA18939.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0014 a0001c0003t0001 a0001c0003t0003 others(2): Show a0001c0002t0014 a0001c0003t0001 a0001c0003t0003 a0001c0004t0002 a0001c0004t0010	a0001c0002t0014g0065 a0001c0003t0001g0018 a0001c0003t0003g0062 others(2): Show a0001c0002t0014g0065 a0001c0003t0001g0018 a0001c0003t0003g0062 a0001c0004t0002g0081 a0001c0004t0010g0086	5	94	0.0532	-16	c.-1- others(33): Show c.-1-37035_-1-37020delTCTCTCTCTCTCTCTC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132001553	GAGAAAGA others(9): Show GAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19240.hp1 HG02559.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0001 a0001c0001t0008 a0001c0003t0001	a0001c0001t0008g0066 a0001c0003t0001g0019 a0001c0001t0008g0066 a0001c0003t0001g0019	2	94	0.0213	-16	c.-2+ others(33): Show c.-2+32998_-2+33013delTTCTTTCTTTCTTTCT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	132005338	TATATACA others(9): Show TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	94	0.0106	-16	c.-2+ others(33): Show c.-2+29213_-2+29228delGTGTGTGTGTGTATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE5_chr6_36735775_36844444	36782816	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0326	1	380	0.0026	-16	c.529 others(33): Show c.529-3875_529-3860delGTGTGTGTGTGTGTGT	CPNE5	ENSG00000124772.12	transcript	ENST00000244751.7	protein_coding	8/20			chr6	TogoVar
CPNE7_chr16_89570758_89602246	89587984	ACCCACAG others(9): Show ACCCACAGATACACGGC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp2 HG02071.hp2 others(8): Show HG00639.hp1 HG01123.hp2 HG02071.hp2 HG02486.hp1 HG02622.hp2 HG03041.hp1 HG03486.hp1 NA18966.hp2 NA19004.hp2 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0029 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0008t0001 a0001c0029t0001 a0002c0003t0003	a0001c0001t0001g0098 a0001c0001t0001g0115 a0001c0001t0001g0178 others(8): Show a0001c0001t0001g0098 a0001c0001t0001g0115 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0239 a0001c0002t0001g0287 a0001c0002t0002g0042 a0001c0002t0005g0074 a0001c0008t0001g0005 a0001c0029t0001g0270 a0002c0003t0003g0125	11	348	0.0316	-16	c.928 others(31): Show c.928-687_928-672delACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588011	ACCCACAG others(9): Show ACCCACAGATACACGGC	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0254 a0001c0002t0002g0254	1	348	0.0029	-16	c.928 others(31): Show c.928-660_928-645delACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPNE7_chr16_89570758_89602246	89598130	ATCCACTC others(9): Show ATCCACTCACCCATCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0331 a0001c0002t0001g0331	1	348	0.0029	-16	c.15 others(27): Show c.1510_*1525delTCCACTCACCCATCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		885		chr16	TogoVar
CPNE8_chr12_38647203_38910591	38867335	TGTGTGAG others(9): Show TGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	342	0.0029	-16	c.186 others(33): Show c.186+5653_186+5668delTCTCTCTCTCTCACAC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	3/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38894658	ACTCTCTC others(9): Show ACTCTCTCTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp1 HG01167.hp2 others(17): Show HG00280.hp2 HG01081.hp1 HG01167.hp2 HG02004.hp1 HG02109.hp2 HG02132.hp1 HG02647.hp1 HG02717.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 NA19030.hp1 NA19056.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0109 others(17): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0109 a0001c0001t0001g0160 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0002t0002g0006 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0061	20	342	0.0585	-16	c.98+ others(33): Show c.98+10763_98+10778delAGAGAGAGAGAGAGAG	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE8_chr12_38647203_38910591	38902315	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02922.hp2 HG03486.hp2 others(6): Show HG02071.hp2 HG02922.hp2 HG03486.hp2 HG06807.hp2 NA18943.hp2 NA18951.hp1 NA18960.hp2 NA18995.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0014	a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 others(6): Show a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0006g0302 a0001c0001t0013g0298 a0001c0001t0013g0299 a0001c0001t0013g0300 a0001c0001t0014g0177	9	342	0.0263	-16	c.98+ others(31): Show c.98+3106_98+3121delTTTCTTTCTTTCTTTC	CPNE8	ENSG00000139117.14	transcript	ENST00000331366.10	protein_coding	1/19			chr12	TogoVar
CPNE9_chr3_9698833_9734908	9724719	CCTATCTA others(9): Show CCTATCTATCTATCTAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	440	0.0023	-16	c.124 others(35): Show c.1242-1191_1242-1176delATCTATCTATCTATCT	CPNE9	ENSG00000144550.14	transcript	ENST00000383832.8	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPO_chr2_206934518_206974474	206943702	AGATAGAT others(9): Show AGATAGATAGATAGATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00438.hp2 others(79): Show HG00099.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp2 HG02071.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18971.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19030.hp1 NA19043.hp1 NA19063.hp1 NA19067.hp1 NA19081.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0008 a0002c0012 a0003c0005 a0003c0006 a0006c0017 a0007c0018	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0003t0001 a0002c0008t0001 a0002c0012t0001 a0003c0005t0001 a0003c0006t0001 a0006c0017t0001 a0007c0018t0001	a0001c0001t0001g0018 a0001c0001t0001g0100 a0001c0001t0001g0103 others(65): Show a0001c0001t0001g0018 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0341 a0001c0004t0001g0004 a0001c0004t0001g0006 a0001c0004t0001g0019 a0001c0004t0001g0031 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0043 a0001c0004t0001g0047 a0001c0004t0001g0101 a0001c0004t0001g0107 a0001c0004t0001g0110 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0116 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0158 a0001c0004t0001g0159 a0001c0004t0001g0292 a0001c0004t0001g0293 a0001c0004t0001g0294 a0001c0004t0001g0295 a0001c0004t0001g0296 a0002c0002t0001g0340 a0002c0003t0001g0028 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0003t0001g0099 a0002c0003t0001g0114 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0326 a0002c0003t0001g0327 a0002c0003t0001g0328 a0002c0003t0001g0335 a0002c0003t0001g0336 a0002c0003t0001g0337 a0002c0003t0001g0338 a0002c0003t0001g0339 a0002c0003t0001g0342 a0002c0003t0001g0343 a0002c0003t0001g0344 a0002c0003t0001g0345 a0002c0003t0001g0346 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0008t0001g0098 a0002c0008t0001g0104 a0002c0008t0001g0108 a0002c0012t0001g0102 a0003c0005t0001g0109 a0003c0006t0001g0011 a0006c0017t0001g0131 a0007c0018t0001g0132	82	422	0.1943	-16	c.68+ others(31): Show c.68+4036_68+4051delGATAGATAGATAGATG	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8			chr2	TogoVar
CPO_chr2_206934518_206974474	206943728	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	422	0.0024	-16	c.68+ others(31): Show c.68+4097_68+4112delAGATAGATAGATAGAT	CPO	ENSG00000144410.5	transcript	ENST00000272852.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPPED1_chr16_12654799_12808887	12660497	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0059 a0002c0002t0059	a0002c0002t0059g0011 a0002c0002t0059g0011	1	290	0.0035	-16	c.43 others(27): Show c.4373_*4388delCACACACACACACACA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	4/4	4373		chr16	TogoVar
CPPED1_chr16_12654799_12808887	12734058	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0255 a0001c0001t0055g0255	1	290	0.0035	-16	c.290 others(35): Show c.290-29025_290-29010delAAAAAAAAAAAAAAAA	CPPED1	ENSG00000103381.12	transcript	ENST00000381774.9	protein_coding	2/3			chr16	TogoVar
CPQ_chr8_96640242_97148501	96717024	AATATATA others(9): Show AATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	126	0.0079	-16	c.-34 others(35): Show c.-34-67802_-34-67787delTATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	96849064	TTTTAACA others(9): Show TTTTAACATGTAATCCA	T T	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	126	0.0079	-16	c.641 others(35): Show c.641+13885_641+13900delTTTAACATGTAATCCA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	3/7			chr8	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02717.hp2 HG00733.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0041 a0001c0001t0001g0042	2	126	0.0159	-16	c.849 others(31): Show c.849+557_849+572delTATATATATATATATA	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97038353	CTTCTGGC others(9): Show CTTCTGGCACAAATAGT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02004.hp2 HG01943.hp1 HG02004.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0006c0010t0001 a0001c0001t0001 a0006c0010t0001	a0001c0001t0001g0047 a0006c0010t0001g0045 a0001c0001t0001g0047 a0006c0010t0001g0045	2	126	0.0159	-16	c.105 others(35): Show c.1053+8865_1053+8880delGCACAAATAGTTTCTG	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97066916	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0116 a0001c0008t0001g0116	1	126	0.0079	-16	c.125 others(33): Show c.1255+720_1255+735delTTTTTTTTTTTTTTTT	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97078763	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02615.hp1 others(5): Show HG02109.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0002g0044 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0002g0044 a0001c0002t0001g0115 a0001c0002t0001g0124 a0001c0002t0002g0004 a0001c0002t0002g0039 a0002c0003t0001g0087	8	126	0.0635	-16	c.125 others(37): Show c.1255+12582_1255+12597delTCTCTCTCTCTCTCTC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPQ_chr8_96640242_97148501	97120371	CATTCCTT others(9): Show CATTCCTTTACTGATCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01943.hp1 HG02004.hp2 others(1): Show HG00099.hp1 HG01943.hp1 HG02004.hp2 HG03017.hp2	a0001 a0006 a0007 a0001 a0006 a0007	a0001c0001 a0001c0002 a0006c0010 others(1): Show a0001c0001 a0001c0002 a0006c0010 a0007c0009	a0001c0001t0001 a0001c0002t0002 a0006c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0006c0010t0001 a0007c0009t0001	a0001c0001t0001g0047 a0001c0002t0002g0051 a0006c0010t0001g0045 others(1): Show a0001c0001t0001g0047 a0001c0002t0002g0051 a0006c0010t0001g0045 a0007c0009t0001g0062	4	126	0.0318	-16	c.125 others(37): Show c.1256-22617_1256-22602delTATTCCTTTACTGATC	CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
CPS1_chr2_210551599_210684107	210565011	AATAAAAA others(9): Show AATAAAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0060 a0003c0003t0002g0060	1	340	0.0029	-16	c.126 others(33): Show c.126+8154_126+8169delTAAAAATAAATAAATA	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210571855	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01934.hp2 others(2): Show HG01168.hp2 HG01169.hp1 HG01934.hp2 NA18953.hp1 NA18965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0005 a0001c0001t0001 a0001c0001t0003 a0003c0003t0005	a0001c0001t0001g0111 a0001c0001t0003g0112 a0003c0003t0005g0113 others(2): Show a0001c0001t0001g0111 a0001c0001t0003g0112 a0003c0003t0005g0113 a0003c0003t0005g0114 a0003c0003t0005g0116	5	340	0.0147	-16	c.127 others(33): Show c.127-1403_127-1388delGTGTGTGTGTGTGTGT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210646867	TCTCACGC others(9): Show TCTCACGCTGGTTTACC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02622.hp2 others(5): Show HG01891.hp2 HG02486.hp1 HG02622.hp2 HG02647.hp2 HG02922.hp1 HG02976.hp2 HG03209.hp2 NA19043.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0005 a0002c0009 a0003c0003 others(1): Show a0002c0005 a0002c0009 a0003c0003 a0004c0007	a0002c0005t0003 a0002c0009t0003 a0002c0009t0006 others(2): Show a0002c0005t0003 a0002c0009t0003 a0002c0009t0006 a0003c0003t0027 a0004c0007t0005	a0002c0005t0003g0132 a0002c0009t0003g0155 a0002c0009t0006g0071 others(5): Show a0002c0005t0003g0132 a0002c0009t0003g0155 a0002c0009t0006g0071 a0002c0009t0006g0072 a0003c0003t0027g0242 a0004c0007t0005g0158 a0004c0007t0005g0159 a0004c0007t0005g0160	8	340	0.0235	-16	c.314 others(33): Show c.3142-990_3142-975delGCTGGTTTACCCTCAC	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	25/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPS1_chr2_210551599_210684107	210668076	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0259 a0003c0003t0004g0259	1	340	0.0029	-16	c.400 others(31): Show c.4003-96_4003-81delGTGTGTGTGTGTGTGT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	33/37		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9425407	AGATGAAT others(9): Show AGATGAATAAAAGCATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00639.hp2 others(130): Show HG00099.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA19004.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19079.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(120): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0002t0001g0008 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0005t0001g0180 a0002c0006t0001g0027	133	230	0.5783	-16	c.50+ others(31): Show c.50+1604_50+1619delGAATAAAAGCATGGAT	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9466386	ACACGCGC others(9): Show ACACGCGCACACACACG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	230	0.0044	-16	c.178 others(35): Show c.1787-1307_1787-1292delACGCACGCGCACACAC	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF3_chr2_9418654_9478101	9466418	ACACGCGC others(9): Show ACACGCGCACACACGCG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp1 HG02647.hp2 others(3): Show HG01884.hp1 HG02486.hp1 HG02647.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0170 a0001c0002t0001g0008 a0001c0002t0001g0162 others(2): Show a0001c0001t0001g0170 a0001c0002t0001g0008 a0001c0002t0001g0162 a0001c0003t0001g0166 a0001c0003t0001g0167	6	230	0.0261	-16	c.178 others(35): Show c.1787-1285_1787-1270delGCGCACACACGCGCAC	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CPSF7_chr11_61397729_61434975	61416739	GAATGTTT others(9): Show GAATGTTTTCCATCCAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp2 HG01891.hp2 others(11): Show HG01243.hp2 HG01261.hp2 HG01891.hp2 HG02145.hp1 HG02486.hp1 HG02572.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp2 HG03540.hp2 HG03942.hp2 NA18522.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0111 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0149	14	190	0.0737	-16	c.524 others(31): Show c.524-236_524-221delATGGATGGAAAACATT	CPSF7	ENSG00000149532.16	transcript	ENST00000439958.8	protein_coding	5/9			chr11	TogoVar
CPT1C_chr19_49686116_49718731	49694087	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00642.hp1 others(80): Show HG00423.hp2 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01168.hp1 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02683.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03017.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18994.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0011 a0001c0001 a0002c0003 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0002c0003t0002 a0004c0011t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(76): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0164 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0209 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0090 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0007g0061 a0002c0003t0002g0051 a0002c0003t0002g0055 a0002c0003t0002g0067 a0002c0003t0002g0210 a0004c0011t0001g0084	83	350	0.2371	-16	c.141 others(33): Show c.141+1717_141+1732delATAAATAAATAAATAA	CPT1C	ENSG00000169169.15	transcript	ENST00000598293.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
CPT2_chr1_53191824_53219197	53192639	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG02083.hp2 HG02109.hp2 others(16): Show HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp2 NA18939.hp2 NA18942.hp1 NA18980.hp1 NA18993.hp2 NA18999.hp1 NA19001.hp1 NA19010.hp2 NA19058.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0096 a0002c0002t0001g0001 a0002c0002t0001g0080 a0003c0003t0001g0005 a0003c0003t0001g0012	19	386	0.0492	-16	c.-43 others(27): Show c.-4304_-4289delTGTGTGTGTGTGTGTG	CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding		4184		chr1	TogoVar
CPTP_chr1_1319802_1333896	1323919	ACTGGGGG others(9): Show ACTGGGGGGCTGAGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 NA18522.hp2 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	2	378	0.0053	-16	c.-12 others(27): Show c.-1258_-1243delCTGGGGGGCTGAGGGG	CPTP	ENSG00000224051.7	transcript	ENST00000343938.9	protein_coding		882		chr1	TogoVar
CPVL_chr7_28990235_29151537	29069770	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01934.hp2 HG03927.hp1 others(2): Show HG01243.hp2 HG01934.hp2 HG03927.hp1 HG04228.hp1 NA19063.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0014 a0001c0001 a0002c0002 a0009c0014	a0001c0001t0001 a0002c0002t0001 a0009c0014t0001 a0001c0001t0001 a0002c0002t0001 a0009c0014t0001	a0001c0001t0001g0079 a0001c0001t0001g0176 a0001c0001t0001g0229 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0176 a0001c0001t0001g0229 a0002c0002t0001g0218 a0009c0014t0001g0006	5	282	0.0177	-16	c.864 others(33): Show c.864+1987_864+2002delCACACACACACACACA	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	9/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29123597	GAAAAAAA others(9): Show GAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01175.hp1 others(1): Show HG00738.hp1 HG01167.hp2 HG01175.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0275	4	282	0.0142	-16	c.-10 others(33): Show c.-10-2542_-10-2527delTTTTTTTTTTTTTTTT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPVL_chr7_28990235_29151537	29145579	CATAGACT others(9): Show CATAGACTTCATCATCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp2 HG02717.hp1 others(4): Show HG02572.hp1 HG02572.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0004t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0001c0004t0002g0048 a0002c0002t0001g0051 a0002c0002t0002g0046 others(4): Show a0001c0004t0002g0048 a0002c0002t0001g0051 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0052 a0003c0003t0001g0050	7	282	0.0248	-16	c.-11 others(31): Show c.-11+834_-11+849delTGATGATGAAGTCTAT	CPVL	ENSG00000106066.15	transcript	ENST00000265394.10	protein_coding	1/12			chr7	TogoVar
CPXCR1_chrX_88742225_88759781	88752524	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19057.hp1 NA19063.hp1 others(1): Show HG02071.hp1 NA19057.hp1 NA19063.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	4	308	0.0130	-16	c.-8- others(29): Show c.-8-858_-8-843delTTTATTTATTTATTTA	CPXCR1	ENSG00000147183.10	transcript	ENST00000276127.9	protein_coding	2/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
CPXM2_chr10_123740639_123896807	123768376	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00597.hp2 others(94): Show HG00140.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02615.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0007 a0008 a0012	a0001c0003 a0001c0004 a0001c0010 others(12): Show a0001c0003 a0001c0004 a0001c0010 a0001c0011 a0001c0022 a0001c0025 a0001c0027 a0001c0028 a0001c0032 a0002c0039 a0003c0009 a0005c0026 a0007c0037 a0008c0038 a0012c0029	a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 others(19): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0017 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0010t0001 a0001c0010t0002 a0001c0010t0013 a0001c0011t0001 a0001c0011t0002 a0001c0022t0019 a0001c0025t0001 a0001c0027t0001 a0001c0028t0001 a0001c0032t0001 a0002c0039t0007 a0003c0009t0001 a0005c0026t0011 a0007c0037t0004 a0008c0038t0016 a0012c0029t0001	a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0081 others(94): Show a0001c0003t0001g0061 a0001c0003t0001g0064 a0001c0003t0001g0081 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0104 a0001c0003t0001g0122 a0001c0003t0001g0127 a0001c0003t0001g0133 a0001c0003t0001g0143 a0001c0003t0001g0164 a0001c0003t0001g0170 a0001c0003t0001g0173 a0001c0003t0001g0177 a0001c0003t0001g0182 a0001c0003t0001g0186 a0001c0003t0001g0188 a0001c0003t0001g0195 a0001c0003t0001g0203 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0220 a0001c0003t0001g0222 a0001c0003t0001g0236 a0001c0003t0001g0243 a0001c0003t0001g0284 a0001c0003t0001g0287 a0001c0003t0002g0050 a0001c0003t0002g0067 a0001c0003t0002g0075 a0001c0003t0002g0125 a0001c0003t0002g0156 a0001c0003t0002g0204 a0001c0003t0002g0275 a0001c0003t0017g0123 a0001c0004t0001g0044 a0001c0004t0001g0047 a0001c0004t0001g0060 a0001c0004t0001g0076 a0001c0004t0001g0083 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0001g0096 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0124 a0001c0004t0001g0136 a0001c0004t0001g0141 a0001c0004t0001g0142 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0159 a0001c0004t0001g0165 a0001c0004t0001g0169 a0001c0004t0001g0183 a0001c0004t0001g0184 a0001c0004t0001g0187 a0001c0004t0001g0189 a0001c0004t0001g0192 a0001c0004t0001g0199 a0001c0004t0001g0211 a0001c0004t0001g0212 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0004t0001g0244 a0001c0004t0001g0273 a0001c0004t0002g0072 a0001c0004t0004g0005 a0001c0010t0001g0247 a0001c0010t0002g0048 a0001c0010t0013g0254 a0001c0011t0001g0210 a0001c0011t0002g0209 a0001c0011t0002g0231 a0001c0022t0019g0035 a0001c0025t0001g0094 a0001c0027t0001g0046 a0001c0028t0001g0191 a0001c0032t0001g0225 a0002c0039t0007g0012 a0003c0009t0001g0117 a0003c0009t0001g0118 a0003c0009t0001g0119 a0005c0026t0011g0001 a0007c0037t0004g0009 a0008c0038t0016g0016 a0012c0029t0001g0278	97	288	0.3368	-16	c.129 others(33): Show c.1299+134_1299+149delATTTATTTATTTATTT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	9/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123793462	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02300.hp2 NA18960.hp2 HG01168.hp1 HG02300.hp2 NA18960.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0001 a0001c0002t0003 a0001c0003t0001	a0001c0002t0003g0091 a0001c0002t0003g0154 a0001c0003t0001g0064 a0001c0002t0003g0091 a0001c0002t0003g0154 a0001c0003t0001g0064	3	288	0.0104	-16	c.889 others(33): Show c.889+4498_889+4513delTTTTTTTTTTTTTTTT	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding	6/13			chr10	TogoVar
CPXM2_chr10_123740639_123896807	123895112	CTTTTTTT others(9): Show CTTTTTTTTCTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00738.hp1 others(26): Show HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01167.hp1 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp2 HG02738.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp2 NA18960.hp1 NA18967.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA19010.hp2 NA19056.hp2 NA19066.hp2 NA19074.hp1 NA19085.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0001c0032	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0011t0002 a0001c0032t0001	a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 others(26): Show a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0002g0260 a0001c0002t0002g0115 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0221 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0100 a0001c0003t0001g0133 a0001c0003t0001g0220 a0001c0003t0001g0222 a0001c0003t0001g0236 a0001c0004t0001g0083 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0110 a0001c0004t0001g0113 a0001c0004t0001g0223 a0001c0004t0001g0226 a0001c0004t0001g0227 a0001c0011t0002g0231 a0001c0032t0001g0225	29	288	0.1007	-16	c.-34 others(27): Show c.-3469_-3454delAAAAAAAGAAAAAAAA	CPXM2	ENSG00000121898.13	transcript	ENST00000241305.4	protein_coding		3306		chr10	TogoVar
CPZ_chr4_8587765_8624752	8605322	TCATCCAT others(9): Show TCATCCATCCATCCATC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02965.hp2 others(2): Show HG02280.hp1 HG02559.hp2 HG02965.hp2 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0002 a0001c0001t0001 a0001c0012t0002	a0001c0001t0001g0009 a0001c0012t0002g0132 a0001c0001t0001g0009 a0001c0012t0002g0132	5	442	0.0113	-16	c.710 others(31): Show c.710-655_710-640delCCATCCATCCATCCAT	CPZ	ENSG00000109625.19	transcript	ENST00000360986.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CR1_chr1_207491157_207646765	207514990	TATATACA others(9): Show TATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	360	0.0028	-16	c.487 others(33): Show c.487+3338_487+3353delTATACACACACACACA	CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	4/46		INFO_REALIGN_3_PRIME	chr1	TogoVar

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