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
CNOT2_chr12_70238433_70359993	70265273	T T	TTCTTCTC others(18): Show TTCTTCTCTTCTCTTCTCTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	280	0.0036	25	c.-95 others(44): Show c.-95-12829_-95-12805dupCTCTTCTCTTCTCTTCTCTTCTCTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT2_chr12_70238433_70359993	70281816	T T	TTAAATTT others(18): Show TTAAATTTAAACTCATTTAAATTAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00733.hp2 HG01070.hp1 others(19): Show HG00621.hp2 HG00733.hp2 HG01070.hp1 HG01123.hp2 HG01257.hp2 HG01433.hp2 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02257.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02886.hp2 HG02970.hp2 NA18522.hp1 NA18941.hp2 NA18945.hp1 NA18977.hp2 NA18988.hp1 NA18991.hp2	a0000 a0001 a0000 a0001	a0000c0003 a0001c0001 a0001c0002 others(1): Show a0000c0003 a0001c0001 a0001c0002 a0001c0004	a0000c0003t0002 a0001c0001t0001 a0001c0001t0008 others(4): Show a0000c0003t0002 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0004t0002	a0000c0003t0002g0229 a0000c0003t0002g0230 a0001c0001t0001g0112 others(19): Show a0000c0003t0002g0229 a0000c0003t0002g0230 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0008g0196 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0002g0228 a0001c0002t0002g0231 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0240 a0001c0002t0004g0232 a0001c0002t0004g0238 a0001c0002t0004g0239 a0001c0004t0002g0227	22	280	0.0786	25	c.48+ others(40): Show c.48+3575_48+3599dupAAACTCATTTAAATTAAATAAATTT	CNOT2	ENSG00000111596.14	transcript	ENST00000229195.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133778	T T	TCTCCACC others(18): Show TCTCCACCTCCCCTCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	223	0.0045	25	c.-42 others(36): Show c.-4266_-4265insCTCCACCTCCCCTCTCTCTCCCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3983		chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77778660	C C	CTCCCAAA others(18): Show CTCCCAAAGTGCTGGGATTACAGGCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	328	0.0031	25	c.6-2 others(38): Show c.6-2293_6-2269dupTGCCTGTAATCCCAGCACTTTGGGA	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77803989	A A	AAACACAG others(18): Show AAACACAGAAATACGTATGACCCAGC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0013 a0001c0001t0012g0013	1	328	0.0031	25	c.5+1 others(40): Show c.5+15314_5+15315insGCTGGGTCATACGTATTTCTGTGTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp1 HG03579.hp1 others(1): Show HG02622.hp2 HG02976.hp1 HG03579.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0054 a0001c0001t0005 a0001c0001t0054	a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0207 others(1): Show a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0207 a0001c0001t0054g0174	4	328	0.0122	25	c.5+1 others(40): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02055.hp2 NA19090.hp2 HG02004.hp1 HG02055.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0009 a0001c0002t0012 a0001c0004t0006 a0001c0001t0009 a0001c0002t0012 a0001c0004t0006	a0001c0001t0009g0239 a0001c0002t0012g0409 a0001c0004t0006g0032 a0001c0001t0009g0239 a0001c0002t0012g0409 a0001c0004t0006g0032	3	426	0.0070	25	c.100 others(44): Show c.100-17958_100-17957insAGAAAGAAAGAAAGAAAGAAAGAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNR2_chr1_23865515_23918362	23897481	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0047 a0001c0001t0012 a0001c0001t0047	a0001c0001t0012g0114 a0001c0001t0047g0117 a0001c0001t0012g0114 a0001c0001t0047g0117	2	268	0.0075	25	c.-46 others(44): Show c.-46+15764_-46+15765insAAAAAAAAAAAAAAAAAAAAAAAAA	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNRIP1_chr2_68288010_68324949	68306124	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01256.hp1 HG01258.hp2 others(2): Show HG00733.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0348 a0001c0002t0001g0349 a0001c0002t0001g0008 a0001c0002t0001g0348 a0001c0002t0001g0349	5	424	0.0118	25	c.330 others(44): Show c.330+11008_330+11032dupTTTTTTTTTTTTTTTTTTTTTTTTT	CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2			chr2	TogoVar
CNTLN_chr9_17130040_17508923	17359725	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAACCAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0026 a0026	a0026c0033 a0026c0033	a0026c0033t0001 a0026c0033t0001	a0026c0033t0001g0174 a0026c0033t0001g0174	1	218	0.0046	25	c.188 others(44): Show c.1887-6872_1887-6871insCCAAAAAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359725	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAACCAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02647.hp2 NA18949.hp1 HG00673.hp2 HG02647.hp2 NA18949.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0020 a0003c0002 a0004c0020	a0003c0002t0001 a0004c0020t0005 a0003c0002t0001 a0004c0020t0005	a0003c0002t0001g0052 a0003c0002t0001g0057 a0004c0020t0005g0154 a0003c0002t0001g0052 a0003c0002t0001g0057 a0004c0020t0005g0154	3	218	0.0138	25	c.188 others(44): Show c.1887-6873_1887-6872insCCAAAAAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359725	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAACCAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18940.hp1 homoSapiens_chm13v2.hp1 HG02056.hp1 NA18940.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0003c0052 a0001c0001 a0003c0002 a0003c0052	a0001c0001t0001 a0003c0002t0001 a0003c0052t0002 a0001c0001t0001 a0003c0002t0001 a0003c0052t0002	a0001c0001t0001g0121 a0003c0002t0001g0073 a0003c0052t0002g0183 a0001c0001t0001g0121 a0003c0002t0001g0073 a0003c0052t0002g0183	3	218	0.0138	25	c.188 others(44): Show c.1887-6874_1887-6873insCCAAAAAAAAAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359744	A A	AACAAAAA others(18): Show AACAAAAAAAAAAAAAACAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02970.hp2 HG02145.hp1 HG02630.hp1 HG02970.hp2	a0006 a0018 a0006 a0018	a0006c0007 a0018c0042 a0006c0007 a0018c0042	a0006c0007t0002 a0006c0007t0014 a0018c0042t0002 a0006c0007t0002 a0006c0007t0014 a0018c0042t0002	a0006c0007t0002g0085 a0006c0007t0014g0087 a0018c0042t0002g0084 a0006c0007t0002g0085 a0006c0007t0014g0087 a0018c0042t0002g0084	3	218	0.0138	25	c.188 others(44): Show c.1887-6872_1887-6871insCAAAAAAAAAAAAAACAAAAAAAGA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40690769	A A	ATTATTTT others(18): Show ATTATTTTATTTTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG02559.hp1 HG03209.hp2 HG01167.hp1 HG02559.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0004t0007 a0001c0001t0001 a0001c0004t0001 a0001c0004t0007	a0001c0001t0001g0212 a0001c0004t0001g0217 a0001c0004t0007g0214 a0001c0001t0001g0212 a0001c0004t0001g0217 a0001c0004t0007g0214	3	230	0.0130	25	c.-19 others(36): Show c.-1900_-1899insTTATTTTATTTTATTTTATTTTATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding		1669		chr12	TogoVar
CNTN1_chr12_40687439_41077415	40822148	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	230	0.0044	25	c.-76 others(44): Show c.-76-86185_-76-86184insTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01255.hp1 others(7): Show HG01069.hp1 HG01167.hp2 HG01255.hp1 HG01346.hp1 HG02015.hp1 HG02083.hp2 HG03225.hp1 NA19011.hp1 NA19030.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0010	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0006t0006 a0005c0010t0002	a0001c0001t0001g0105 a0001c0001t0001g0229 a0001c0001t0006g0138 others(7): Show a0001c0001t0001g0105 a0001c0001t0001g0229 a0001c0001t0006g0138 a0001c0002t0001g0031 a0001c0002t0001g0083 a0001c0002t0001g0103 a0001c0002t0001g0161 a0001c0002t0001g0196 a0001c0006t0006g0021 a0005c0010t0002g0026	10	230	0.0435	25	c.-76 others(44): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40983828	A A	ATATATGC others(18): Show ATATATGCTATTATAGCATATTTTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02083.hp2 HG03579.hp1 others(1): Show HG00408.hp1 HG02083.hp2 HG03579.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003	a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0002t0001g0025 others(1): Show a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0002t0001g0025 a0001c0002t0003g0060	4	230	0.0174	25	c.196 others(44): Show c.1963+2788_1963+2812dupATATGCTATTATAGCATATTTTATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40983937	A A	ATTATAGC others(18): Show ATTATAGCATATTTTATTATATGCTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0140 a0001c0001t0006g0140	1	230	0.0044	25	c.196 others(44): Show c.1963+2871_1963+2872insTATAGCATATTTTATTATATGCTGT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74366780	G G	GTATATAT others(18): Show GTATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0121 a0002c0005t0004g0121	1	174	0.0058	25	c.947 others(42): Show c.947-1079_947-1078insTTATATATATATATATATATATATA	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	8/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2611297	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	116	0.0086	25	c.55+ others(42): Show c.55+39754_55+39755insAAAAAAAAAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2773762	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0013 a0001c0002t0012g0013	1	116	0.0086	25	c.358 others(44): Show c.358+28081_358+28082insTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2834898	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp2 HG03130.hp1 others(1): Show HG02647.hp1 HG02897.hp2 HG03130.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0016t0003	a0001c0001t0001g0059 a0001c0001t0003g0006 a0001c0001t0004g0042 others(1): Show a0001c0001t0001g0059 a0001c0001t0003g0006 a0001c0001t0004g0042 a0002c0016t0003g0079	4	116	0.0345	25	c.454 others(44): Show c.454+15341_454+15342insTTTTTTTTTTTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2864740	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0072 a0001c0003t0002g0072	1	116	0.0086	25	c.455 others(42): Show c.455-1997_455-1996insAAAAAAAAAAAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99388982	C C	CTTATTTT others(18): Show CTTATTTTATTTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19070.hp2 HG01496.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0021 a0001c0001t0014 a0002c0002t0021	a0001c0001t0014g0016 a0002c0002t0021g0055 a0001c0001t0014g0016 a0002c0002t0021g0055	2	66	0.0303	25	c.-71 others(44): Show c.-71+63536_-71+63560dupATTTTATTTTATTTTATTTTATTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99620027	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAACCAAAAAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19000.hp1 HG02132.hp1 NA19000.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0016 a0006c0006t0014 a0001c0001t0016 a0006c0006t0014	a0001c0001t0016g0049 a0006c0006t0014g0058 a0001c0001t0016g0049 a0006c0006t0014g0058	2	66	0.0303	25	c.55+ others(42): Show c.55+63768_55+63769insAAAAAAACCAAAAAGAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG02976.hp1 others(1): Show HG00733.hp2 HG00735.hp1 HG02976.hp1 NA18957.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006	a0001c0001t0001 a0002c0002t0022 a0003c0003t0007 others(1): Show a0001c0001t0001 a0002c0002t0022 a0003c0003t0007 a0006c0006t0009	a0001c0001t0001g0052 a0002c0002t0022g0013 a0003c0003t0007g0034 others(1): Show a0001c0001t0001g0052 a0002c0002t0022g0013 a0003c0003t0007g0034 a0006c0006t0009g0042	4	66	0.0606	25	c.56- others(42): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1245308	A A	AACATATA others(18): Show AACATATATATATAACATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	232	0.0043	25	c.358 others(44): Show c.358+17315_358+17316insACATATATATATAACATATATATAT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22			chr3	TogoVar
CNTN6_chr3_1088024_1409217	1319833	G G	GAAAATAA others(18): Show GAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp2 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0006t0001 a0001c0003t0001 a0001c0006t0001	a0001c0003t0001g0042 a0001c0006t0001g0223 a0001c0003t0001g0042 a0001c0006t0001g0223	2	232	0.0086	25	c.762 others(42): Show c.762-1797_762-1773dupTAAAATAAAATAAAATAAAATAAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146231042	A A	ATAAATAA others(18): Show ATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	1	40	0.0250	25	c.97+ others(44): Show c.97+114069_97+114070insTAAATAAATAAATAAATAAATAAAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146535397	A A	AATTAATT others(18): Show AATTAATTATATATAATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02886.hp2 HG03540.hp1 HG00735.hp1 HG02886.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 a0001c0002 a0001c0005 a0001c0006	a0001c0002t0010 a0001c0005t0022 a0001c0006t0014 a0001c0002t0010 a0001c0005t0022 a0001c0006t0014	a0001c0002t0010g0002 a0001c0005t0022g0032 a0001c0006t0014g0033 a0001c0002t0010g0002 a0001c0005t0022g0032 a0001c0006t0014g0033	3	40	0.0750	25	c.98- others(44): Show c.98-238874_98-238873insATTAATTATATATAATTATTATTAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23			chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146665788	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	40	0.0250	25	c.98- others(44): Show c.98-108473_98-108472insAAAAAAAAAAAAAACAAAAAAAAAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146721889	A A	ATATATAT others(18): Show ATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0021 a0004c0014t0021	a0004c0014t0021g0022 a0004c0014t0021g0022	1	40	0.0250	25	c.98- others(42): Show c.98-52381_98-52380insATATATATATATTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147246056	C C	CACATATA others(18): Show CACATATATATGGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG02886.hp2 others(4): Show HG01891.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp1 HG03139.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0010 others(2): Show a0001c0001 a0001c0005 a0001c0010 a0001c0011 a0005c0020	a0001c0001t0006 a0001c0001t0018 a0001c0005t0008 others(4): Show a0001c0001t0006 a0001c0001t0018 a0001c0005t0008 a0001c0005t0022 a0001c0010t0002 a0001c0011t0016 a0005c0020t0005	a0001c0001t0006g0009 a0001c0001t0018g0001 a0001c0005t0008g0005 others(4): Show a0001c0001t0006g0009 a0001c0001t0018g0001 a0001c0005t0008g0005 a0001c0005t0022g0032 a0001c0010t0002g0014 a0001c0011t0016g0019 a0005c0020t0005g0016	7	40	0.1750	25	c.134 others(46): Show c.1349-54056_1349-54032dupTATATATGGCATATATATATATAC A	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147246068	G G	GCATATAT others(18): Show GCATATATATATATACATATATATGC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0023 a0001c0003t0011g0023	1	40	0.0250	25	c.134 others(46): Show c.1349-54049_1349-54048insCCATATATATATATACATATATAT G	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148135973	G G	GAGGAAGG others(18): Show GAGGAAGGAAGGAAGGAAGGAAAGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0003 a0001c0013t0003	a0001c0013t0003g0039 a0001c0013t0003g0039	1	40	0.0250	25	c.255 others(46): Show c.2555-11497_2555-11496insAGGAAGGAAGGAAGGAAGGAAGGA A	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148405420	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0002 a0001c0018t0002	a0001c0018t0002g0012 a0001c0018t0002g0012	1	40	0.0250	25	c.371 others(44): Show c.3716-3969_3716-3945dupTTTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148413401	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	40	0.0250	25	c.379 others(44): Show c.3797-2015_3797-2014insAAAAAAAAAAAAAAAAAAATATATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP4_chr16_76272401_76565757	76408351	C C	CTTAACAA others(18): Show CTTAACAATTAACAGTTGTTAATCTA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01884.hp2 HG02109.hp1 others(18): Show HG00597.hp2 HG01884.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02559.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03942.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0004 a0001c0015 others(7): Show a0001c0001 a0001c0004 a0001c0015 a0002c0002 a0002c0005 a0002c0014 a0003c0003 a0003c0028 a0006c0009 a0007c0013	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0015t0006 a0002c0002t0004 a0002c0005t0002 a0002c0014t0006 a0003c0003t0001 a0003c0003t0004 a0003c0003t0006 a0003c0003t0011 a0003c0003t0030 a0003c0028t0005 a0006c0009t0001 a0006c0009t0004 a0007c0013t0002 a0007c0013t0022	a0001c0001t0001g0174 a0001c0001t0004g0172 a0001c0004t0001g0087 others(18): Show a0001c0001t0001g0174 a0001c0001t0004g0172 a0001c0004t0001g0087 a0001c0015t0006g0166 a0002c0002t0004g0021 a0002c0005t0002g0194 a0002c0014t0006g0269 a0003c0003t0001g0098 a0003c0003t0001g0271 a0003c0003t0004g0270 a0003c0003t0006g0264 a0003c0003t0006g0268 a0003c0003t0011g0243 a0003c0003t0011g0244 a0003c0003t0011g0246 a0003c0003t0030g0245 a0003c0028t0005g0274 a0006c0009t0001g0258 a0006c0009t0004g0273 a0007c0013t0002g0210 a0007c0013t0022g0249	21	274	0.0766	25	c.391 others(44): Show c.391-19062_391-19038dupGTTGTTAATCTATTAACAATTAACA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19004.hp1 HG03098.hp1 NA19004.hp1	a0003 a0012 a0003 a0012	a0003c0003 a0012c0020 a0003c0003 a0012c0020	a0003c0003t0007 a0012c0020t0009 a0003c0003t0007 a0012c0020t0009	a0003c0003t0007g0260 a0012c0020t0009g0103 a0003c0003t0007g0260 a0012c0020t0009g0103	2	274	0.0073	25	c.133 others(44): Show c.1334-1182_1334-1181insAAAAAAAAAAAAATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp2 HG02451.hp2 HG02615.hp2	a0006 a0017 a0006 a0017	a0006c0009 a0017c0036 a0006c0009 a0017c0036	a0006c0009t0001 a0017c0036t0004 a0006c0009t0001 a0017c0036t0004	a0006c0009t0001g0251 a0017c0036t0004g0248 a0006c0009t0001g0251 a0017c0036t0004g0248	2	274	0.0073	25	c.133 others(44): Show c.1334-1182_1334-1181insAAAAAAAAAAATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76460773	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0021 a0003c0006t0021	a0003c0006t0021g0001 a0003c0006t0021g0001	1	274	0.0037	25	c.133 others(44): Show c.1334-1182_1334-1181insAAAAAAATATATATATATATATATA	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76522687	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18968.hp1 NA18987.hp2 others(1): Show HG03942.hp1 NA18968.hp1 NA18987.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0076 a0001c0001t0001g0219 a0001c0001t0001g0230 others(1): Show a0001c0001t0001g0076 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0004t0001g0006	4	274	0.0146	25	c.275 others(42): Show c.2755+498_2755+522dupTCTTTTCTTTTCTTTTCTTTTCTTT	CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP5_chr2_124020287_124926219	124485631	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02723.hp2 HG03225.hp1 others(1): Show HG01069.hp1 HG02723.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0007 a0001c0002t0019 a0001c0002t0001 a0001c0002t0007 a0001c0002t0019	a0001c0002t0001g0003 a0001c0002t0001g0062 a0001c0002t0007g0009 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0062 a0001c0002t0007g0009 a0001c0002t0019g0051	4	64	0.0625	25	c.106 others(46): Show c.1062+10752_1062+10753insAAAAAAAAAAAAAAAGAAGAAGAA A	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124541179	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0013 a0004c0006t0001g0013	1	64	0.0156	25	c.164 others(46): Show c.1649+13740_1649+13741insTTTTTTTTTTTTTTTTTTTTTTTT T	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124571527	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	64	0.0156	25	c.175 others(44): Show c.1756+8225_1756+8226insTTTTTTTTTTTTTTTTTTTTTTTTT	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	11/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTNAP5_chr2_124020287_124926219	124721514	T T	TAAATAAA others(18): Show TAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0056 a0001c0002t0003g0056	1	64	0.0156	25	c.207 others(46): Show c.2078-25706_2078-25705insAATAAATAAATAAATAAAATAAAT A	CNTNAP5	ENSG00000155052.15	transcript	ENST00000682447.1	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
COA1_chr7_43634257_43734523	43664103	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	384	0.0026	25	c.-38 others(44): Show c.-38-15452_-38-15451insCTCTCTCTCTCTCTCTCTCTCTCTC	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA1_chr7_43634257_43734523	43710375	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0377 a0001c0001t0001g0377	1	384	0.0026	25	c.-39 others(44): Show c.-39+19053_-39+19054insATATATATATATATATATATATTTT	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding	1/5			chr7	TogoVar
COA4_chr11_73867667_73881846	73878353	G G	GGCTATAG others(18): Show GGCTATAGCCATGTCACAAAGTTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	394	0.0025	25	c.-16 others(36): Show c.-1614_-1613insTTAAACTTTGTGACATGGCTATAGC	COA4	ENSG00000181924.7	transcript	ENST00000355693.5	protein_coding		1508		chr11	TogoVar
COBL_chr7_51011212_51321809	51098224	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0081 a0001c0004t0006g0081	1	230	0.0044	25	c.958 others(44): Show c.958-12921_958-12920insAAAAAGAAAAAAAAAAAAAAAAAAA	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	6/12			chr7	TogoVar

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