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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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
CLIP1_chr12_122266469_122427669	122390172	GATATATA others(20): Show GATATATATATATATATATATATATAAT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	234	0.0043	-27	c.-10 others(46): Show c.-106-9641_-106-9615delATTATATATATATATATATATATATA T	CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	1/25			chr12	TogoVar
CLMN_chr14_95176940_95324908	95245191	TATAATAT others(20): Show TATAATATATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01261.hp2 others(22): Show HG00558.hp1 HG00738.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01993.hp1 HG02055.hp1 HG02074.hp2 HG02145.hp1 HG02486.hp1 HG02698.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18945.hp1 NA18971.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0004 a0007c0018	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0033 a0001c0001t0039 a0001c0001t0069 a0001c0002t0009 a0001c0002t0034 a0001c0002t0060 a0001c0003t0002 a0001c0003t0013 a0001c0005t0013 a0001c0013t0017 a0002c0004t0025 a0007c0018t0001	a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 others(22): Show a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0097 a0001c0001t0011g0114 a0001c0001t0015g0100 a0001c0001t0033g0207 a0001c0001t0039g0138 a0001c0001t0069g0132 a0001c0002t0009g0045 a0001c0002t0009g0047 a0001c0002t0034g0026 a0001c0002t0060g0044 a0001c0003t0002g0093 a0001c0003t0002g0167 a0001c0003t0002g0223 a0001c0003t0013g0081 a0001c0005t0013g0004 a0001c0013t0017g0025 a0002c0004t0025g0109 a0002c0004t0025g0110 a0007c0018t0001g0198	25	276	0.0906	-27	c.83- others(44): Show c.83-15085_83-15059delTATATATATAATATATATATATATTAT	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123119047	CTCTCCCT others(20): Show CTCTCCCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18906.hp2 HG02451.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0113 a0001c0001t0014g0125 a0001c0001t0003g0113 a0001c0001t0014g0125	2	254	0.0079	-27	c.29- others(44): Show c.29-21122_29-21096delAGAGAGAGAGAGAGAGAGAGAGGGAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLN3_chr16_28472279_28497074	28495952	TCTCAGGC others(20): Show TCTCAGGCGGGGAGGAGGCTGAGACAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp2 HG02572.hp1 others(2): Show HG02055.hp2 HG02486.hp2 HG02572.hp1 NA18906.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0008 a0004c0004 a0001c0001 a0001c0008 a0004c0004	a0001c0001t0001 a0001c0008t0001 a0004c0004t0003 a0001c0001t0001 a0001c0008t0001 a0004c0004t0003	a0001c0001t0001g0125 a0001c0001t0001g0234 a0001c0001t0001g0237 others(2): Show a0001c0001t0001g0125 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0008t0001g0262 a0004c0004t0003g0259	5	360	0.0139	-27	c.-40 others(38): Show c.-4036_-4010delGCTGTCTCAGCCTCCTCCCCGCCTGAG	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding		3879		chr16	TogoVar
CLN3_chr16_28472279_28497074	28495974	GACAGCCT others(20): Show GACAGCCTCAGGCGGGGAGGAGGCTGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18962.hp2 NA18966.hp1 others(8): Show NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18986.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19056.hp2 NA19070.hp2 NA19082.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0094 others(7): Show a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0177 a0001c0001t0001g0184	11	360	0.0306	-27	c.-40 others(38): Show c.-4058_-4032delTTCAGCCTCCTCCCCGCCTGAGGCTGT	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding		3901		chr16	TogoVar
CLN3_chr16_28472279_28497074	28496076	TGGGACAG others(20): Show TGGGACAGCCTCAGGAGGGGAGGAGGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(94): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02257.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18950.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18987.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19057.hp2 NA19067.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(1): Show a0001c0001 a0001c0005 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0005t0002 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(66): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0126 a0001c0001t0001g0238 a0001c0001t0001g0258 a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0004g0013 a0001c0001t0006g0045 a0001c0001t0008g0070 a0001c0005t0002g0037 a0001c0009t0001g0079 a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0040 a0002c0002t0001g0046 a0002c0002t0001g0048	97	360	0.2694	-27	c.-41 others(38): Show c.-4160_-4134delGGCCTCCTCCCCTCCTGAGGCTGTCCC	CLN3	ENSG00000188603.22	transcript	ENST00000636147.2	protein_coding		4003		chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1327748	CATTCCAC others(20): Show CATTCCACCCAGCTCCTCCTCTACAGGG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0316 a0001c0001t0001g0317	2	370	0.0054	-27	c.108 others(46): Show c.1081-1959_1081-1933delCCCTGTAGAGGAGGAGCTGGGTGGAA T	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
CLSTN2_chr3_139930185_140582397	140556687	GCCAACTG others(20): Show GCCAACTGAGGCAGCAGTTGGGAAGGTC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19043.hp2 HG03453.hp1 NA19043.hp2	a0001 a0006 a0001 a0006	a0001c0019 a0006c0020 a0001c0019 a0006c0020	a0001c0019t0021 a0006c0020t0034 a0001c0019t0021 a0006c0020t0034	a0001c0019t0021g0036 a0006c0020t0034g0102 a0001c0019t0021g0036 a0006c0020t0034g0102	2	110	0.0182	-27	c.182 others(42): Show c.1823+37_1823+63delCAGCAGTTGGGAAGGTCCCAACTGAGG	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CLUAP1_chr16_3496004_3544048	3529554	TATATTAT others(20): Show TATATTATTATATATTATATATTATATA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0152 a0001c0001t0008g0152	1	382	0.0026	-27	c.929 others(43): Show c.929-1006_929-980delTATATATTATATATTATATAATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUAP1_chr16_3496004_3544048	3529657	ATATTATA others(20): Show ATATTATATATTATTATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02273.hp1 HG02300.hp1 others(3): Show HG00621.hp1 HG02273.hp1 HG02300.hp1 NA19003.hp1 NA19064.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0004 a0003c0003t0003 a0001c0001t0001 a0001c0001t0004 a0003c0003t0003	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(3): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0004g0229 a0003c0003t0003g0160	6	382	0.0157	-27	c.929 others(42): Show c.929-897_929-871delTATATATTATATATTATTATATATTAT	CLUAP1	ENSG00000103351.13	transcript	ENST00000576634.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLUH_chr17_2684387_2716764	2691939	GGCCCCGC others(20): Show GGCCCCGCCCCCGCCCCGCCACGCCCCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19043.hp2 HG02622.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0029 a0001c0003 a0001c0029	a0001c0003t0001 a0001c0029t0011 a0001c0003t0001 a0001c0029t0011	a0001c0003t0001g0132 a0001c0029t0011g0311 a0001c0003t0001g0132 a0001c0029t0011g0311	2	420	0.0048	-27	c.365 others(42): Show c.3654+38_3655-45delGGGGGCGTGGCGGGGCGGGGGCGGGGC	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUH_chr17_2684387_2716764	2691957	CCACGCCC others(20): Show CCACGCCCCCGCCCCGCCCCCGCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	420	0.0024	-27	c.365 others(42): Show c.3654+20_3654+46delCGGGGGCGGGGGCGGGGCGGGGGCGTG	CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25			chr17	TogoVar
CLUL1_chr18_591988_655182	596870	TCTGCAGG others(20): Show TCTGCAGGCCCCGCCCACCCGGCGTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	414	0.0024	-27	c.-39 others(36): Show c.-394_-368delCTGCAGGCCCCGCCCACCCGGCGTCAC	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		117		chr18	TogoVar
CLUL1_chr18_591988_655182	596921	TCTGCAGG others(20): Show TCTGCAGGCCCCGCCCACCCGGCGTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA20805.hp2 HG01074.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0384 a0001c0001t0001g0349 a0001c0001t0001g0384	2	414	0.0048	-27	c.-34 others(36): Show c.-343_-317delCTGCAGGCCCCGCCCACCCGGCGTCAC	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding		66		chr18	TogoVar
CLUL1_chr18_591988_655182	626982	GGAAGGAA others(20): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18959.hp2 HG01952.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0306 a0001c0001t0002g0039 a0001c0001t0001g0306 a0001c0001t0002g0039	2	414	0.0048	-27	c.424 others(41): Show c.424-114_424-88delGAAGGAAGGAAGGAAGGAAGGAAGGAA	CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9			chr18	TogoVar
CMC2_chr16_80961448_81011885	80965193	AAAAAAAA others(20): Show AAAAAAAAACATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0099 a0002c0002t0099	a0002c0002t0099g0305 a0002c0002t0099g0305	1	408	0.0025	-27	c.10 others(40): Show c.10873_*10899delATATATATATATATATATGTTTTTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1254		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965197	AAAAACAT others(20): Show AAAAACATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG02074.hp1 others(8): Show HG00408.hp2 HG00558.hp2 HG02074.hp1 NA18945.hp2 NA18979.hp2 NA19005.hp2 NA19057.hp1 NA19062.hp1 NA19070.hp2 NA19079.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0075 a0002c0002t0003 a0002c0002t0075	a0002c0002t0003g0002 a0002c0002t0003g0051 a0002c0002t0003g0289 others(3): Show a0002c0002t0003g0002 a0002c0002t0003g0051 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0294 a0002c0002t0075g0122	11	408	0.0270	-27	c.10 others(40): Show c.10869_*10895delATATATATATATATATATATATGTTTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1250		chr16	TogoVar
CMC2_chr16_80961448_81011885	80965199	AAACATAT others(20): Show AAACATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 NA19076.hp2 HG02080.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0217 a0001c0001t0001g0196 a0001c0001t0001g0217	2	408	0.0049	-27	c.10 others(40): Show c.10867_*10893delATATATATATATATATATATATATGTT	CMC2	ENSG00000103121.9	transcript	ENST00000219400.8	protein_coding		1248		chr16	TogoVar
CMIP_chr16_81439808_81716762	81444758	GGCGCCCC others(20): Show GGCGCCCCGGGCTCCGGGAGCCCGGCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	268	0.0037	-27	c.-48 others(36): Show c.-483_-457delGCGCCCCGGGCTCCGGGAGCCCGGCGC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding		49		chr16	TogoVar
CMTM7_chr3_32386853_32460528	32428237	CCCCAGGC others(20): Show CCCCAGGCCCTTTGCAACAAACCCCATT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01109.hp2 HG01361.hp1 others(8): Show HG00438.hp2 HG01109.hp2 HG01361.hp1 NA18962.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19063.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0025 others(6): Show a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0061 a0001c0001t0003g0100 a0001c0001t0003g0103	11	368	0.0299	-27	c.160 others(46): Show c.160-13602_160-13576delCCCAGGCCCTTTGCAACAAACCCCAT T	CMTM7	ENSG00000153551.14	transcript	ENST00000334983.10	protein_coding	1/4			chr3	TogoVar
CMYA5_chr5_79684836_79805222	79742048	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp2 HG03209.hp1 HG02809.hp2 HG03041.hp2 HG03209.hp1	a0019 a0050 a0019 a0050	a0019c0024 a0050c0104 a0019c0024 a0050c0104	a0019c0024t0001 a0019c0024t0017 a0050c0104t0003 a0019c0024t0001 a0019c0024t0017 a0050c0104t0003	a0019c0024t0001g0181 a0019c0024t0017g0355 a0050c0104t0003g0272 a0019c0024t0001g0181 a0019c0024t0017g0355 a0050c0104t0003g0272	3	358	0.0084	-27	c.106 others(48): Show c.10639-1753_10639-1727delCTTCTTCTTCTTCTTCTTCTTCTT CTT	CMYA5	ENSG00000164309.15	transcript	ENST00000446378.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNBD1_chr8_86861415_87387859	87220169	AACTTAAT others(20): Show AACTTAATGCTATGAATATGATGAATTC	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0149 a0003c0004t0001g0149	1	152	0.0066	-27	c.577 others(46): Show c.577+14059_577+14085delACTTAATGCTATGAATATGATGAATT C	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNBD1_chr8_86861415_87387859	87255995	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	152	0.0066	-27	c.771 others(46): Show c.771+18885_771+18911delATATATATATATATATATATTTTTTT T	CNBD1	ENSG00000176571.13	transcript	ENST00000518476.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
CNN1_chr19_11533851_11555323	11550951	ACACACAC others(20): Show ACACACACACACACACACACACACGACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	392	0.0026	-27	c.11 others(38): Show c.1157_*1183delCACACACACACACACACACACACGACC	CNN1	ENSG00000130176.8	transcript	ENST00000252456.7	protein_coding		629		chr19	TogoVar
CNNM2_chr10_102913294_103095222	102980122	GCAGGCTG others(20): Show GCAGGCTGGTCTCAGACGCCATGTTGGC	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0024 a0001c0001t0042g0024	1	270	0.0037	-27	c.162 others(48): Show c.1621+60037_1621+60063delCGCCATGTTGGCCAGGCTGGTCTC AGA	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT1_chr16_58514951_58634826	58619297	GCTAAAGA others(20): Show GCTAAAGAACTTGTTAAAACTCAAGTCC	G G	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	308	0.0033	-27	c.-17 others(48): Show c.-175+10404_-175+10430delGGACTTGAGTTTTAACAAGTTCTT TAG	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	1/48			chr16	TogoVar
CNOT2_chr12_70238433_70359993	70279857	CTTTCTAC others(20): Show CTTTCTACACTAAAAGTACTCCATTGTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02922.hp2 HG03139.hp1 others(2): Show HG02055.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0115 a0001c0001t0001g0140 a0001c0001t0001g0148 others(2): Show a0001c0001t0001g0115 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0002t0001g0139	5	280	0.0179	-27	c.48+ others(42): Show c.48+1585_48+1611delTTCTACACTAAAAGTACTCCATTGTTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT4_chr7_135356795_135515102	135472505	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG02622.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0297 a0001c0001t0001g0298	2	362	0.0055	-27	c.-92 others(46): Show c.-92-34109_-92-34083delATATATATATATATATATTTTTTTTT T	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135472507	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	362	0.0028	-27	c.-92 others(46): Show c.-92-34111_-92-34085delATATATATATATATATATATTTTTTT T	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495687	AAAAAAAG others(20): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01934.hp2 others(18): Show HG01106.hp1 HG01361.hp2 HG01934.hp2 HG02559.hp1 HG03491.hp2 HG03834.hp2 NA18612.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18953.hp1 NA18962.hp2 NA18965.hp1 NA18971.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA19000.hp2 NA19062.hp1 NA19088.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 others(18): Show a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0319 a0002c0002t0001g0018 a0002c0002t0001g0069 a0002c0002t0001g0070 a0004c0005t0001g0126	21	362	0.0580	-27	c.-93 others(46): Show c.-93+14175_-93+14201delCTTTCTTTCTTTCTTTCTTTCTTTTT T	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(81): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02523.hp1 HG02622.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18982.hp2 NA18984.hp2 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0032 a0001c0001t0033 a0001c0001t0047 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0002t0004 a0001c0002t0020 a0002c0004t0001	a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0236 others(81): Show a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0329 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0005g0109 a0001c0001t0005g0226 a0001c0001t0008g0238 a0001c0001t0008g0262 a0001c0001t0008g0295 a0001c0001t0008g0296 a0001c0001t0008g0297 a0001c0001t0008g0317 a0001c0001t0012g0255 a0001c0001t0012g0279 a0001c0001t0015g0012 a0001c0001t0017g0161 a0001c0001t0017g0164 a0001c0001t0017g0166 a0001c0001t0032g0154 a0001c0001t0033g0033 a0001c0001t0047g0242 a0001c0001t0050g0089 a0001c0001t0051g0096 a0001c0001t0052g0080 a0001c0001t0056g0266 a0001c0001t0058g0095 a0001c0001t0059g0300 a0001c0001t0061g0003 a0001c0001t0063g0230 a0001c0001t0064g0163 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0020g0056 a0002c0004t0001g0319	84	334	0.2515	-27	c.112 others(46): Show c.112+10193_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT T	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTLN_chr9_17130040_17508923	17312339	GTATTTAT others(20): Show GTATTTATATATATATATATATATATTA	G G	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0052 a0003c0052	a0003c0052t0002 a0003c0052t0002	a0003c0052t0002g0183 a0003c0052t0002g0183	1	218	0.0046	-27	c.134 others(46): Show c.1341+3091_1341+3117delTTATATATATATATATATATATTATA T	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	41056891	TATATTTA others(20): Show TATATTTAGATATTTATAAATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0195 a0001c0002t0001g0196	2	230	0.0087	-27	c.298 others(48): Show c.2981-13017_2981-12991delTATAATATTTAGATATTTATAAAT ATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41056944	TAATATTT others(20): Show TAATATTTAGATATTTATAAATATTATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp1 HG01175.hp1 others(7): Show HG00408.hp1 HG01123.hp1 HG01175.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp2 HG02027.hp2 NA18950.hp2 NA18974.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0114 a0001c0001t0001g0152 a0001c0001t0001g0206 others(7): Show a0001c0001t0001g0114 a0001c0001t0001g0152 a0001c0001t0001g0206 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0001g0092 a0001c0002t0001g0102 a0001c0002t0001g0132 a0001c0002t0001g0205	10	230	0.0435	-27	c.298 others(48): Show c.2981-12966_2981-12940delATTATAAATATTTAGATATTTATA AAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	41057019	TGATATTT others(20): Show TGATATTTATAAATATTATAAATATTTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01167.hp2 HG01169.hp2 others(1): Show HG01106.hp1 HG01167.hp2 HG01169.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0188 a0001c0002t0001g0035 a0001c0002t0001g0195 others(1): Show a0001c0001t0001g0188 a0001c0002t0001g0035 a0001c0002t0001g0195 a0001c0002t0001g0196	4	230	0.0174	-27	c.298 others(48): Show c.2981-12866_2981-12840delAATATTTAGATATTTATAAATATT ATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74344396	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02109.hp1 HG02451.hp1 others(10): Show HG01255.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02809.hp2 HG03041.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0008	a0001c0001 a0001c0002 a0001c0014 others(6): Show a0001c0001 a0001c0002 a0001c0014 a0002c0005 a0003c0003 a0003c0021 a0004c0011 a0006c0024 a0008c0016	a0001c0001t0014 a0001c0002t0002 a0001c0002t0009 others(9): Show a0001c0001t0014 a0001c0002t0002 a0001c0002t0009 a0001c0002t0014 a0001c0014t0013 a0002c0005t0006 a0003c0003t0002 a0003c0003t0003 a0003c0021t0003 a0004c0011t0002 a0006c0024t0002 a0008c0016t0007	a0001c0001t0014g0051 a0001c0002t0002g0070 a0001c0002t0009g0085 others(10): Show a0001c0001t0014g0051 a0001c0002t0002g0070 a0001c0002t0009g0085 a0001c0002t0014g0076 a0001c0014t0013g0057 a0002c0005t0006g0160 a0003c0003t0002g0052 a0003c0003t0003g0077 a0003c0021t0003g0048 a0004c0011t0002g0045 a0004c0011t0002g0071 a0006c0024t0002g0054 a0008c0016t0007g0080	13	174	0.0747	-27	c.136 others(46): Show c.1365-7765_1365-7739delAAAAAAAAAAAAAAAAAAAAAAAAAA C	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287684	AGAAGAAG others(20): Show AGAAGAAGAGGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02622.hp1 HG02886.hp2 others(2): Show HG02523.hp2 HG02622.hp1 HG02886.hp2 HG02897.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0014	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0004t0002 a0002c0014t0001	a0001c0001t0002g0030 a0001c0002t0001g0027 a0001c0002t0005g0002 others(2): Show a0001c0001t0002g0030 a0001c0002t0001g0027 a0001c0002t0005g0002 a0001c0004t0002g0076 a0002c0014t0001g0016	5	116	0.0431	-27	c.-14 others(48): Show c.-144-51485_-144-51459delGGAAGAAGAAGAAGAAGAGGAAGA AGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02602.hp1 HG02683.hp2 others(1): Show HG00438.hp2 HG02602.hp1 HG02683.hp2 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0001 a0001c0003t0003 a0001c0020t0002 a0001c0003t0001 a0001c0003t0003 a0001c0020t0002	a0001c0003t0001g0094 a0001c0003t0003g0015 a0001c0003t0003g0046 others(1): Show a0001c0003t0001g0094 a0001c0003t0003g0015 a0001c0003t0003g0046 a0001c0020t0002g0082	4	116	0.0345	-27	c.-14 others(48): Show c.-144-51467_-144-51441delGGAAGAAGAAGAAGAAGAAGAAGA AGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2287711	GGAAGAAG others(20): Show GGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	116	0.0086	-27	c.-14 others(48): Show c.-144-51426_-144-51400delAAGAAGAAGAAGAAGAAGAAGAAG AAG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2705850	AATATATG others(20): Show AATATATGTGTTTATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	116	0.0086	-27	c.56- others(44): Show c.56-30364_56-30338delATATATGTGTTTATATATAATATATAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24			chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146712121	TGTATACA others(20): Show TGTATACATATCTTATGTATACTATATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0003g0035 a0001c0004t0003g0036	2	40	0.0500	-27	c.98- others(44): Show c.98-62128_98-62102delTATATAGTATACATATCTTATGTATAC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146712148	AGTATACA others(20): Show AGTATACATATCTTATGTATACAAATAT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	40	0.0250	-27	c.98- others(44): Show c.98-62019_98-61993delAATATGTATACATATCTTATGTATACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146897045	GGACAGAA others(20): Show GGACAGAAATTAGTTTCATATTGAACAC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03098.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0007 a0001c0002t0001 a0001c0004t0003 a0001c0001t0007 a0001c0002t0001 a0001c0004t0003	a0001c0001t0007g0018 a0001c0002t0001g0021 a0001c0004t0003g0035 others(1): Show a0001c0001t0007g0018 a0001c0002t0001g0021 a0001c0004t0003g0035 a0001c0004t0003g0036	4	40	0.1000	-27	c.402 others(46): Show c.402+57142_402+57168delGACAGAAATTAGTTTCATATTGAACA C	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	3/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147084347	ATATGCAT others(20): Show ATATGCATAATGCTATATATGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG01891.hp1 HG02486.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0007 a0004c0014t0021 a0001c0001t0007 a0004c0014t0021	a0001c0001t0007g0020 a0004c0014t0021g0022 a0001c0001t0007g0020 a0004c0014t0021g0022	2	40	0.0500	-27	c.551 others(46): Show c.551-23799_551-23773delTATGCATAATGCTATATATGTATATA T	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23			chr7	TogoVar
CNTNAP5_chr2_124020287_124926219	124702346	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	64	0.0156	-27	c.207 others(48): Show c.2078-44859_2078-44833delTTTTTTTTTTTTTTTTTTTTTTTT TTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124706777	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG01891.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0005 a0001c0001t0017	a0001c0001t0005g0040 a0001c0001t0017g0012 a0001c0001t0005g0040 a0001c0001t0017g0012	2	64	0.0313	-27	c.207 others(48): Show c.2078-40449_2078-40423delAAGAAGAAGAAGAAGAAGGAGGAG GAG	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43691270	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp1 HG02559.hp2 others(3): Show HG00621.hp2 HG01891.hp1 HG02559.hp2 HG02572.hp1 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(3): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0118	6	384	0.0156	-27	c.-39 others(46): Show c.-39+38132_-39+38158delCTTTCTTTCTTTCTTTCTTTCTTTCT T	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43691403	GGAAGGAA others(20): Show GGAAGGAAGGAAGAAAGAAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	384	0.0026	-27	c.-39 others(46): Show c.-39+37999_-39+38025delTCTTTCTTTTTCTTTCTTCCTTCCTT C	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COBL_chr7_51011212_51321809	51018906	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0064 a0010c0064	a0010c0064t0011 a0010c0064t0011	a0010c0064t0011g0062 a0010c0064t0011g0062	1	230	0.0044	-27	c.376 others(46): Show c.3769-1365_3769-1339delATATATATATATATATATATATATAT A	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	12/12			chr7	TogoVar
COG6_chr13_39650662_39757628	39711508	TTCTAAGA others(20): Show TTCTAAGAACAGTGGGACCTTTGGAAGG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(220): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0006 a0001c0011 others(5): Show a0001c0001 a0001c0006 a0001c0011 a0001c0012 a0002c0002 a0002c0007 a0004c0004 a0008c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0006t0003 a0001c0011t0003 a0001c0012t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0007t0002 a0004c0004t0002 a0004c0004t0007 a0008c0010t0002	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(214): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0158 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0126 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0004g0049 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0206 a0001c0006t0003g0040 a0001c0006t0003g0041 a0001c0011t0003g0210 a0001c0012t0003g0073 a0002c0002t0002g0011 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0349 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0002g0353 a0002c0002t0002g0354 a0002c0002t0002g0356 a0002c0002t0003g0224 a0002c0002t0004g0215 a0002c0002t0004g0216 a0002c0002t0004g0221 a0002c0002t0004g0225 a0002c0002t0004g0263 a0002c0002t0004g0347 a0002c0002t0006g0231 a0002c0002t0006g0233 a0002c0002t0006g0292 a0002c0002t0006g0302 a0002c0002t0006g0320 a0002c0002t0006g0321 a0002c0002t0006g0326 a0002c0002t0007g0306 a0002c0002t0007g0330 a0002c0002t0007g0355 a0002c0002t0008g0241 a0002c0002t0008g0242 a0002c0002t0008g0243 a0002c0002t0008g0335 a0002c0002t0009g0276 a0002c0002t0009g0277 a0002c0002t0009g0278 a0002c0002t0011g0012 a0002c0007t0002g0300 a0004c0004t0002g0254 a0004c0004t0002g0255 a0004c0004t0002g0256 a0004c0004t0007g0253 a0008c0010t0002g0247	223	370	0.6027	-27	c.128 others(46): Show c.1285-7726_1285-7700delCTAAGAACAGTGGGACCTTTGGAAGG T	COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr13	TogoVar

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