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
CTNNA3_chr10_65907523_67701195	66360816	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	46	0.0217	-16	c.173 others(37): Show c.1732+18320_1732+18335delAAAGAAAGAAAGAAAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	12/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66543905	GTGTGTGT others(9): Show GTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02922.hp1 HG03540.hp1 others(4): Show HG01070.hp2 HG02922.hp1 HG03540.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0004t0001 a0002c0002t0003	a0001c0001t0001g0015 a0001c0001t0004g0043 a0001c0001t0005g0010 others(4): Show a0001c0001t0001g0015 a0001c0001t0004g0043 a0001c0001t0005g0010 a0001c0001t0012g0038 a0001c0004t0001g0018 a0002c0002t0003g0039 a0002c0002t0003g0042	7	46	0.1522	-16	c.137 others(37): Show c.1375-23148_1375-23133delTATATATATACACACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66543907	GTGTGTAT others(9): Show GTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02896.hp2 HG02897.hp2 HG01243.hp2 HG02896.hp2 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0005 a0001c0001t0006 a0002c0002t0005	a0001c0001t0006g0007 a0001c0001t0006g0008 a0002c0002t0005g0014 a0001c0001t0006g0007 a0001c0001t0006g0008 a0002c0002t0005g0014	3	46	0.0652	-16	c.137 others(37): Show c.1375-23150_1375-23135delTATATATATATACACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66597511	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0007 a0001c0001t0006g0008	2	46	0.0435	-16	c.137 others(37): Show c.1374+24165_1374+24180delATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66635990	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG01070.hp1 HG01243.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0005 a0001c0001t0021 a0002c0002t0005	a0001c0001t0021g0012 a0002c0002t0005g0014 a0001c0001t0021g0012 a0002c0002t0005g0014	2	46	0.0435	-16	c.128 others(37): Show c.1282-14222_1282-14207delCACACACACACACACA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66685345	ATATATAT others(9): Show ATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02647.hp2 HG02717.hp1 others(2): Show HG01081.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0006 a0001c0001t0023 a0001c0003t0011 others(1): Show a0001c0001t0006 a0001c0001t0023 a0001c0003t0011 a0001c0004t0007	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0023g0011 others(2): Show a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0023g0011 a0001c0003t0011g0032 a0001c0004t0007g0005	5	46	0.1087	-16	c.128 others(37): Show c.1282-63577_1282-63562delAAAAAAAAAATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	9/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66840360	TCTCTCTC others(9): Show TCTCTCTCTCTCTCACA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02622.hp1 others(5): Show HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02717.hp1 HG02965.hp1 HG03195.hp1 HG03540.hp2 HG03579.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0004 a0001c0007 others(3): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0003c0009 a0005c0010	a0001c0001t0002 a0001c0001t0007 a0001c0004t0007 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0004t0007 a0001c0007t0015 a0002c0002t0013 a0003c0009t0003 a0005c0010t0002	a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0007g0020 others(5): Show a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0007g0020 a0001c0004t0007g0005 a0001c0007t0015g0016 a0002c0002t0013g0026 a0003c0009t0003g0036 a0005c0010t0002g0021	8	46	0.1739	-16	c.104 others(37): Show c.1048-64852_1048-64837delTGTGAGAGAGAGAGAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66840362	TCTCTCTC others(9): Show TCTCTCTCTCTCACACA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18960.hp1 HG02145.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0024 a0001c0001t0008 a0001c0001t0024	a0001c0001t0008g0004 a0001c0001t0024g0044 a0001c0001t0008g0004 a0001c0001t0024g0044	2	46	0.0435	-16	c.104 others(37): Show c.1048-64854_1048-64839delTGTGTGAGAGAGAGAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	66840364	TCTCTCTC others(9): Show TCTCTCTCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp1 HG02647.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0020 a0001c0003t0011 a0001c0001t0020 a0001c0003t0011	a0001c0001t0020g0030 a0001c0003t0011g0032 a0001c0001t0020g0030 a0001c0003t0011g0032	2	46	0.0435	-16	c.104 others(37): Show c.1048-64856_1048-64841delTGTGTGTGAGAGAGAG	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67079858	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	46	0.0217	-16	c.104 others(39): Show c.1047+100443_1047+100458delGTGTGTGTGTGTGTGT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	7/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67237122	GTATGTAT others(9): Show GTATGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02622.hp2 HG02896.hp2 others(1): Show HG01070.hp1 HG02622.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0021 a0001c0003t0022 a0001c0001t0006 a0001c0001t0021 a0001c0003t0022	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0021g0012 others(1): Show a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0021g0012 a0001c0003t0022g0022	4	46	0.0870	-16	c.580 others(35): Show c.580-17268_580-17253delTATATATATATACATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67289749	AGGATGGA others(9): Show AGGATGGATGAATGGAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	46	0.0217	-16	c.580 others(35): Show c.580-69895_580-69880delATCCATTCATCCATCC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67302002	CGAAAGAA others(9): Show CGAAAGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02145.hp1 NA18964.hp2 HG01070.hp1 HG02145.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0021 a0001c0001t0025 a0001c0001t0008 a0001c0001t0021 a0001c0001t0025	a0001c0001t0008g0004 a0001c0001t0021g0012 a0001c0001t0025g0045 a0001c0001t0008g0004 a0001c0001t0021g0012 a0001c0001t0025g0045	3	46	0.0652	-16	c.580 others(35): Show c.580-82148_580-82133delTTTCTTTCTTTCTTTC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	5/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67566043	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	46	0.0217	-16	c.293 others(35): Show c.293-26390_293-26375delTATATATATATATATA	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67578996	GATATATA others(9): Show GATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02622.hp2 others(7): Show HG02280.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG02922.hp2 HG03579.hp1 HG06807.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0004c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0020 a0001c0003t0014 a0001c0003t0022 a0001c0004t0001 a0001c0004t0007 a0002c0002t0013 a0004c0008t0005	a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0007g0020 others(7): Show a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0007g0020 a0001c0001t0020g0030 a0001c0003t0014g0025 a0001c0003t0022g0022 a0001c0004t0001g0018 a0001c0004t0007g0005 a0002c0002t0013g0026 a0004c0008t0005g0033	10	46	0.2174	-16	c.292 others(35): Show c.292+27845_292+27860delATATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNA3_chr10_65907523_67701195	67579018	TATATATA others(9): Show TATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	46	0.0217	-16	c.292 others(35): Show c.292+27823_292+27838delGTATATATATATATAT	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	3/17			chr10	TogoVar
CTNNBL1_chr20_37689030_37877118	37722473	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02922.hp2 others(1): Show HG02630.hp1 HG02647.hp1 HG02922.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162	4	266	0.0150	-16	c.31- others(33): Show c.31-10370_31-10355delTAAATAAATAAATAAA	CTNNBL1	ENSG00000132792.21	transcript	ENST00000361383.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CTNND2_chr5_10966836_11909446	11382595	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	26	0.0385	-16	c.117 others(35): Show c.1177+2054_1177+2069delCACACACACACACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	7/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11404602	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG03130.hp1 others(4): Show HG02258.hp1 HG02258.hp2 HG03130.hp1 HG03453.hp1 HG03471.hp1 NA19043.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0026 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020	7	26	0.2692	-16	c.439 others(33): Show c.439+6918_439+6933delAAAAAAAAAAAAAAAA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	5/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11439740	ATATCTAT others(9): Show ATATCTATCTATCTATC	A A	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	26	0.0385	-16	c.288 others(35): Show c.288-27687_288-27672delGATAGATAGATAGATA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11547268	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02647.hp1 NA18522.hp2 others(1): Show HG00738.hp1 HG02647.hp1 NA18522.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0001 a0002c0008t0001 a0001c0001t0001 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0023 a0002c0008t0001g0014	4	26	0.1539	-16	c.287 others(35): Show c.287+17660_287+17675delATTTATTTATTTATTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	3/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11578669	GAATAAAT others(9): Show GAATAAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02647.hp2 others(6): Show HG02258.hp1 HG02258.hp2 HG02647.hp2 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0003g0026 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007	9	26	0.3462	-16	c.175 others(35): Show c.175-13629_175-13614delTATTTATTTATTTATT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11592236	CTGCCTTC others(9): Show CTGCCTTCCTGCCTGCT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02258.hp1 HG02258.hp2 others(18): Show HG00738.hp1 HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02647.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0002c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0009t0001 a0002c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0003g0026 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0003t0001g0007 a0001c0004t0001g0019 a0001c0005t0001g0020 a0001c0009t0001g0008 a0002c0008t0001g0014	21	26	0.8077	-16	c.175 others(35): Show c.175-27196_175-27181delAGCAGGCAGGAAGGCA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11623800	GTGTGTAT others(9): Show GTGTGTATGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 homoSapiens_chm13v2.hp1 HG02922.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0012 a0001c0001t0001g0017	2	26	0.0769	-16	c.175 others(35): Show c.175-58760_175-58745delTATATATACATACACA	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	2/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11770408	AAAGGAAA others(9): Show AAAGGAAAGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	26	0.0385	-16	c.38- others(33): Show c.38-38152_38-38137delCCTTCCTTCTTTCCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11816992	AGAGAGAG others(9): Show AGAGAGAGAGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	26	0.0385	-16	c.38- others(33): Show c.38-84736_38-84721delCTCCTCTCTCTCTCTC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11817410	GGAGAGAG others(9): Show GGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	26	0.0385	-16	c.38- others(33): Show c.38-85154_38-85139delTCTCTCTCTCTCTCTC	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNND2_chr5_10966836_11909446	11818070	TCATTTGG others(9): Show TCATTTGGTAGGTTCTA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0003 a0001c0009t0001 a0001c0001t0003 a0001c0009t0001	a0001c0001t0003g0026 a0001c0009t0001g0008 a0001c0001t0003g0026 a0001c0009t0001g0008	2	26	0.0769	-16	c.37+ others(33): Show c.37+85731_37+85746delTAGAACCTACCAAATG	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CTNS_chr17_3631760_3668103	3635193	TGAAGGAA others(9): Show TGAAGGAAGGAAGGAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	372	0.0027	-16	c.-18 others(27): Show c.-1867_-1852delGAAGGAAGGAAGGAAG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding		1566		chr17	TogoVar
CTNS_chr17_3631760_3668103	3645219	GAGGCTCC others(9): Show GAGGCTCCACATAAGGA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0074 a0001c0001t0080g0074	1	372	0.0027	-16	c.62- others(31): Show c.62-2221_62-2206delCTCCACATAAGGAAGG	CTNS	ENSG00000040531.16	transcript	ENST00000046640.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTPS1_chr1_40974696_41017565	41008306	CTCCCATC others(9): Show CTCCCATCCTGCCACGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(43): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG03017.hp2 HG03669.hp2 NA18941.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18980.hp2 NA18986.hp2 NA18999.hp1 NA19001.hp1 NA19011.hp1 NA19056.hp2 NA19059.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19085.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007	a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0004t0002 a0001c0007t0002	a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 others(28): Show a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0187 a0001c0001t0002g0195 a0001c0001t0002g0205 a0001c0001t0002g0230 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0005g0069 a0001c0001t0005g0070 a0001c0001t0005g0071 a0001c0001t0005g0073 a0001c0002t0002g0011 a0001c0002t0002g0046 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0004t0002g0066 a0001c0004t0002g0072 a0001c0007t0002g0181	46	388	0.1186	-16	c.139 others(33): Show c.1394-347_1394-332delTCCTGCCACGTTCCCA	CTPS1	ENSG00000171793.17	transcript	ENST00000650070.2	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
CTPS2_chrX_16582999_16717669	16603416	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	226	0.0044	-16	c.169 others(35): Show c.1691+6109_1691+6124delATTTATTTATTTATTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	17/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16639777	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02523.hp1 NA18991.hp1 others(2): Show HG00438.hp2 HG02523.hp1 NA18991.hp1 NA19004.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0029 a0001c0001t0001g0089 a0001c0002t0002g0124 others(2): Show a0001c0001t0001g0029 a0001c0001t0001g0089 a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0148	5	226	0.0221	-16	c.129 others(33): Show c.1297-550_1297-535delCTTTCTTTCTTTCTTT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	13/18			chrX	TogoVar
CTPS2_chrX_16582999_16717669	16668618	GAGGGAAG others(9): Show GAGGGAAGGAAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02280.hp2 HG02818.hp2 others(1): Show HG01106.hp1 HG02280.hp2 HG02818.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0001g0216 a0001c0001t0002g0127 a0001c0001t0003g0214 others(1): Show a0001c0001t0001g0216 a0001c0001t0002g0127 a0001c0001t0003g0214 a0001c0003t0002g0136	4	226	0.0177	-16	c.119 others(33): Show c.1190-910_1190-895delTCTTCCTTCCTTCCCT	CTPS2	ENSG00000047230.15	transcript	ENST00000359276.9	protein_coding	11/18			chrX	TogoVar
CTSB_chr8_11837524_11873087	11839668	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02451.hp2 HG00558.hp1 HG02451.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0012 a0002c0002 a0003c0012	a0002c0002t0067 a0003c0012t0031 a0002c0002t0067 a0003c0012t0031	a0002c0002t0067g0146 a0003c0012t0031g0157 a0002c0002t0067g0146 a0003c0012t0031g0157	2	438	0.0046	-16	c.54 others(27): Show c.5441_*5456delTTTTTTTTTTTTTTTT	CTSB	ENSG00000164733.23	transcript	ENST00000353047.11	protein_coding		2855		chr8	TogoVar
CTSC_chr11_88288592_88342736	88290844	CATATATA others(9): Show CATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG00673.hp2 others(6): Show HG00423.hp1 HG00609.hp2 HG00673.hp2 HG02074.hp1 HG02523.hp1 NA18968.hp1 NA18984.hp1 NA18986.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0181 others(5): Show a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0006g0172	9	434	0.0207	-16	c.31 others(27): Show c.3146_*3161delATATATATATATATAT	CTSC	ENSG00000109861.17	transcript	ENST00000227266.10	protein_coding		2747		chr11	TogoVar
CTSF_chr11_66558464_66573606	66567401	TGGCTCCT others(9): Show TGGCTCCTCAAGCTGAG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02074.hp1 HG02132.hp2 others(6): Show HG01243.hp1 HG02074.hp1 HG02132.hp2 HG02258.hp2 HG02630.hp2 HG03471.hp1 NA18988.hp2 NA19060.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0010 a0001c0002t0003g0011 a0001c0002t0003g0025 a0001c0002t0001g0010 a0001c0002t0003g0011 a0001c0002t0003g0025	9	412	0.0218	-16	c.531 others(29): Show c.531+27_531+42delCTCAGCTTGAGGAGCC	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	3/12			chr11	TogoVar
CTSF_chr11_66558464_66573606	66568532	ACCCACCG others(9): Show ACCCACCGGGTACCGAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0045 a0001c0001t0009g0045	1	412	0.0024	-16	c.-62 others(23): Show c.-62_-47delCTCGGTACCCGGTGGG	CTSF	ENSG00000174080.12	transcript	ENST00000310325.10	protein_coding	1/13	47		chr11	TogoVar
CTSH_chr15_78916058_78950046	78945098	AGGGGCGG others(9): Show AGGGGCGGAGCGAGCGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00544.hp1 others(120): Show HG00280.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18999.hp2 NA19003.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0008 a0001c0001 a0001c0002 a0006c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0005 a0001c0002t0020 a0006c0008t0009	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 others(89): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0102 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0251 a0001c0001t0001g0263 a0001c0001t0003g0025 a0001c0001t0003g0188 a0001c0001t0003g0216 a0001c0001t0004g0003 a0001c0001t0004g0006 a0001c0001t0004g0012 a0001c0001t0004g0024 a0001c0001t0004g0162 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0192 a0001c0001t0004g0215 a0001c0001t0004g0225 a0001c0001t0005g0008 a0001c0001t0005g0160 a0001c0001t0005g0194 a0001c0001t0010g0156 a0001c0001t0010g0158 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0250 a0001c0002t0005g0007 a0001c0002t0005g0101 a0001c0002t0005g0163 a0001c0002t0005g0181 a0001c0002t0005g0212 a0001c0002t0005g0213 a0001c0002t0005g0231 a0001c0002t0020g0180 a0006c0008t0009g0198 a0006c0008t0009g0209 a0006c0008t0009g0220	123	414	0.2971	-16	c.-13 others(25): Show c.-133_-118delGCGCTCGCTCCGCCCC	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding		53		chr15	TogoVar
CTSL_chr9_87721119_87736469	87727041	AAAATAAA others(9): Show AAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	388	0.0026	-16	c.-10 others(31): Show c.-10-527_-10-512delAATAAATAAATAAATA	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
CTSL_chr9_87721119_87736469	87734804	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	388	0.0026	-16	c.36 others(27): Show c.3698_*3713delTTTTTTTTTTTTTTTT	CTSL	ENSG00000135047.16	transcript	ENST00000343150.10	protein_coding		3336		chr9	TogoVar
CTSS_chr1_150725188_150770778	150726447	TACACACA others(9): Show TACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02280.hp1 HG02647.hp1 HG02109.hp1 HG02280.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221	3	344	0.0087	-16	c.65 others(27): Show c.6583_*6598delGTGTGTGTGTGTGTGT	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding		3740		chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117773648	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp1 HG02145.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0164 a0001c0001t0002g0033 a0001c0001t0001g0164 a0001c0001t0002g0033	2	164	0.0122	-16	c.277 others(35): Show c.2778+3847_2778+3862delGTGTGTGTGTGTGTGT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	8/22			chr7	TogoVar
CTTNBP2_chr7_117705651_117878441	117847819	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18954.hp2 HG02165.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0092 a0001c0001t0001g0106	2	164	0.0122	-16	c.189 others(35): Show c.189+13374_189+13389delAAAAAAAAAAAAAAAA	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CTXND1_chr15_80190481_80257213	80220099	CATCTATC others(9): Show CATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0049 a0001c0003t0037g0049	1	396	0.0025	-16	c.-21 others(37): Show c.-217-16375_-217-16360delAGATAGATAGATAGAT	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CTXND1_chr15_80190481_80257213	80220134	CTATCTAT others(9): Show CTATCTATCTATCATCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19009.hp2 HG00673.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0201 a0001c0001t0002g0202	2	396	0.0051	-16	c.-21 others(37): Show c.-217-16410_-217-16395delAGATGATAGATAGATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CTXND1_chr15_80190481_80257213	80220138	CTATCTAT others(9): Show CTATCTATCATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02004.hp1 HG02040.hp2 others(30): Show HG01516.hp2 HG02004.hp1 HG02040.hp2 HG02135.hp2 HG02683.hp2 HG02965.hp2 HG03710.hp2 HG04115.hp2 NA18612.hp2 NA18947.hp2 NA18954.hp1 NA18962.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18979.hp1 NA18987.hp2 NA18992.hp2 NA18994.hp1 NA19000.hp1 NA19012.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19077.hp2 NA19079.hp1 NA19083.hp1 NA19084.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0002t0026 others(2): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0026 a0001c0002t0070 a0001c0003t0008	a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0013 others(25): Show a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0013 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0276 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0281 a0001c0002t0003g0285 a0001c0002t0003g0286 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0329 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0004g0039 a0001c0002t0004g0130 a0001c0002t0004g0149 a0001c0002t0004g0188 a0001c0002t0026g0252 a0001c0002t0070g0280 a0001c0003t0008g0279	33	396	0.0833	-16	c.-21 others(37): Show c.-217-16414_-217-16399delAGATAGATGATAGATA	CTXND1	ENSG00000259417.3	transcript	ENST00000560778.3	protein_coding	1/2			chr15	TogoVar
CUBN_chr10_16818966_17134811	16825628	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0081 a0002c0017t0001g0081	1	192	0.0052	-16	c.107 others(35): Show c.10765-562_10765-547delACACACACACACACAC	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	66/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16906909	CACTTCTA others(9): Show CACTTCTAAATTTTAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00621.hp2 others(7): Show HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00733.hp2 HG01952.hp2 HG02004.hp2 HG02523.hp2 HG03239.hp1 HG03834.hp1 NA18942.hp2	a0023 a0024 a0048 others(5): Show a0023 a0024 a0048 a0053 a0059 a0077 a0085 a0097	a0023c0064 a0023c0065 a0024c0039 others(7): Show a0023c0064 a0023c0065 a0024c0039 a0024c0059 a0048c0098 a0053c0101 a0059c0109 a0077c0054 a0085c0034 a0097c0027	a0023c0064t0001 a0023c0065t0001 a0024c0039t0001 others(7): Show a0023c0064t0001 a0023c0065t0001 a0024c0039t0001 a0024c0059t0001 a0048c0098t0003 a0053c0101t0003 a0059c0109t0001 a0077c0054t0001 a0085c0034t0003 a0097c0027t0002	a0023c0064t0001g0158 a0023c0065t0001g0157 a0024c0039t0001g0067 others(7): Show a0023c0064t0001g0158 a0023c0065t0001g0157 a0024c0039t0001g0067 a0024c0059t0001g0092 a0048c0098t0003g0031 a0053c0101t0003g0132 a0059c0109t0001g0079 a0077c0054t0001g0102 a0085c0034t0003g0093 a0097c0027t0002g0098	10	192	0.0521	-16	c.770 others(33): Show c.7706-516_7706-501delTTTAAAATTTAGAAGT	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	49/66			chr10	TogoVar
CUBN_chr10_16818966_17134811	16942792	GGGAAGGG others(9): Show GGGAAGGGAAGGGAAAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0042 a0042	a0042c0130 a0042c0130	a0042c0130t0001 a0042c0130t0001	a0042c0130t0001g0121 a0042c0130t0001g0121	1	192	0.0052	-16	c.534 others(35): Show c.5343-2571_5343-2556delTTTTCCCTTCCCTTCC	CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	36/66			chr10	TogoVar

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