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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
CNR2_chr1_23865515_23918362	23895998	G G	GCTACCAT others(8): Show GCTACCATTAGCTGGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0200 a0003c0003t0009g0200	1	268	0.0037	15	c.-46 others(34): Show c.-46+17233_-46+17247dupGCCAGCTAATGGTAG	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
CNRIP1_chr2_68288010_68324949	68306124	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0278 a0001c0003t0001g0278	1	424	0.0024	15	c.330 others(34): Show c.330+11018_330+11032dupTTTTTTTTTTTTTTT	CNRIP1	ENSG00000119865.9	transcript	ENST00000263655.4	protein_coding	2/2			chr2	TogoVar
CNST_chr1_246561456_246673595	246642132	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0170 a0001c0001t0004g0007 a0001c0001t0001g0170 a0001c0001t0004g0007	2	320	0.0063	15	c.937 others(28): Show c.937+95_937+96insTTTTTTTTTTTTTTT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10			chr1	TogoVar
CNST_chr1_246561456_246673595	246646279	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02717.hp2 HG02109.hp1 HG02486.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0001 a0001c0001t0004 a0001c0006t0001	a0001c0001t0004g0042 a0001c0001t0004g0153 a0001c0006t0001g0009 a0001c0001t0004g0042 a0001c0001t0004g0153 a0001c0006t0001g0009	3	320	0.0094	15	c.938 others(30): Show c.938-859_938-845dupAAAAAAAAAAAAAAA	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTLN_chr9_17130040_17508923	17185771	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0002 a0009c0010t0002	a0009c0010t0002g0001 a0009c0010t0002g0001	1	218	0.0046	15	c.450 others(34): Show c.450-40432_450-40431insGTGTGTGTGTGTGTG	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25			chr9	TogoVar
CNTLN_chr9_17130040_17508923	17202646	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0002 a0011c0015t0002	a0011c0015t0002g0214 a0011c0015t0002g0214	1	218	0.0046	15	c.450 others(34): Show c.450-23547_450-23533dupTTTTTTTTTTTTTTT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17312366	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0003 a0010c0012t0003	a0010c0012t0003g0025 a0010c0012t0003g0025	1	218	0.0046	15	c.134 others(34): Show c.1341+3115_1341+3129dupTATATATATATATAT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17359717	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0008 a0008c0009t0008	a0008c0009t0008g0185 a0008c0009t0008g0185	1	218	0.0046	15	c.188 others(34): Show c.1887-6895_1887-6894insAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTLN_chr9_17130040_17508923	17440588	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG02145.hp2 others(2): Show HG00597.hp1 HG00621.hp2 HG02145.hp2 NA18940.hp1 NA18949.hp1	a0003 a0003	a0003c0002 a0003c0052 a0003c0002 a0003c0052	a0003c0002t0001 a0003c0052t0002 a0003c0002t0001 a0003c0052t0002	a0003c0002t0001g0051 a0003c0002t0001g0057 a0003c0002t0001g0069 others(2): Show a0003c0002t0001g0051 a0003c0002t0001g0057 a0003c0002t0001g0069 a0003c0002t0001g0125 a0003c0052t0002g0183	5	218	0.0229	15	c.311 others(36): Show c.3115-16922_3115-16921insAAAAAAAAAAAAAAA	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40690769	A A	ATTATTTT others(8): Show ATTATTTTATTTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA19030.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0013 a0001c0004t0007 a0001c0001t0013 a0001c0004t0007	a0001c0001t0013g0211 a0001c0004t0007g0213 a0001c0001t0013g0211 a0001c0004t0007g0213	2	230	0.0087	15	c.-19 others(26): Show c.-1900_-1899insTTATTTTATTTTATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding		1669		chr12	TogoVar
CNTN1_chr12_40687439_41077415	40707227	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	230	0.0044	15	c.-77 others(34): Show c.-77+14660_-77+14674dupTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40813056	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0098 a0001c0002t0005g0098	1	230	0.0044	15	c.-76 others(34): Show c.-76-95296_-76-95295insTCTTTCTTTCTTCTT	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(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	230	0.0044	15	c.-76 others(34): Show c.-76-64286_-76-64272dupTTTTTTTTTTTTTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40867880	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG01884.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0016 a0001c0004t0002 a0001c0003t0016 a0001c0004t0002	a0001c0003t0016g0226 a0001c0004t0002g0008 a0001c0003t0016g0226 a0001c0004t0002g0008	2	230	0.0087	15	c.-76 others(34): Show c.-76-40462_-76-40448dupATTATTATTATTATT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74558982	C C	CAATAATA others(8): Show CAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp2 HG01261.hp2 others(18): Show HG00323.hp2 HG00609.hp2 HG01261.hp2 HG01346.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02615.hp1 HG02622.hp1 HG02922.hp1 HG03209.hp2 HG04184.hp2 NA18977.hp2 NA18981.hp1 NA19030.hp1 NA19074.hp1 NA20752.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0002 a0002c0015 others(3): Show a0001c0001 a0001c0002 a0002c0015 a0003c0026 a0004c0011 a0011c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0019 a0002c0015t0013 a0003c0026t0010 a0004c0011t0002 a0011c0020t0003	a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0002g0046 others(18): Show a0001c0001t0001g0118 a0001c0001t0001g0133 a0001c0001t0002g0046 a0001c0001t0003g0017 a0001c0001t0003g0049 a0001c0001t0004g0092 a0001c0001t0008g0001 a0001c0001t0008g0003 a0001c0001t0011g0008 a0001c0001t0011g0009 a0001c0002t0001g0091 a0001c0002t0001g0107 a0001c0002t0002g0022 a0001c0002t0002g0070 a0001c0002t0004g0119 a0001c0002t0010g0004 a0001c0002t0019g0002 a0002c0015t0013g0019 a0003c0026t0010g0005 a0004c0011t0002g0071 a0011c0020t0003g0026	21	174	0.1207	15	c.-80 others(34): Show c.-80-37805_-80-37791dupATTATTATTATTATT	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	1/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2234370	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp1 HG02258.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0021 a0001c0006 a0001c0021	a0001c0006t0002 a0001c0021t0002 a0001c0006t0002 a0001c0021t0002	a0001c0006t0002g0026 a0001c0021t0002g0025 a0001c0006t0002g0026 a0001c0021t0002g0025	2	116	0.0172	15	c.-14 others(38): Show c.-144-104801_-144-104787dupAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2294288	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	116	0.0086	15	c.-14 others(36): Show c.-144-44889_-144-44875dupTTTTTTTTTTTTTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2317893	T T	TCAAACTA others(8): Show TCAAACTATATCTTAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0044 a0001c0004t0006g0044	1	116	0.0086	15	c.-14 others(36): Show c.-144-21285_-144-21284insCAAACTATATCTTAC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2521345	C C	CCCCCCCC others(8): Show CCCCCCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	116	0.0086	15	c.-88 others(34): Show c.-88-50066_-88-50065insCCCACCCCCACCCCC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2534819	A A	ATGCTGCT others(8): Show ATGCTGCTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00738.hp1 others(35): Show HG00140.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01169.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp1 HG03041.hp1 HG03041.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG03927.hp1 HG04184.hp2 NA18990.hp2 NA19043.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0025 a0002c0014 a0007c0018 a0009c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0006 a0001c0005t0010 a0001c0006t0003 a0001c0007t0016 a0001c0013t0007 a0001c0025t0001 a0002c0014t0001 a0007c0018t0003 a0009c0027t0001	a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0050 others(35): Show a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0050 a0001c0001t0002g0028 a0001c0001t0003g0008 a0001c0001t0003g0095 a0001c0001t0004g0081 a0001c0001t0005g0018 a0001c0001t0005g0019 a0001c0001t0005g0054 a0001c0001t0005g0098 a0001c0001t0008g0043 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0003g0024 a0001c0002t0004g0017 a0001c0002t0005g0002 a0001c0002t0007g0112 a0001c0003t0001g0014 a0001c0003t0001g0037 a0001c0003t0001g0075 a0001c0003t0003g0015 a0001c0003t0003g0046 a0001c0003t0011g0113 a0001c0004t0001g0020 a0001c0004t0001g0097 a0001c0004t0002g0048 a0001c0005t0001g0096 a0001c0005t0006g0010 a0001c0005t0010g0001 a0001c0005t0010g0085 a0001c0006t0003g0069 a0001c0007t0016g0105 a0001c0013t0007g0056 a0001c0025t0001g0100 a0002c0014t0001g0016 a0007c0018t0003g0062 a0009c0027t0001g0007	38	116	0.3276	15	c.-88 others(34): Show c.-88-36594_-88-36580dupCTGCTGCTGCTGCTG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2611297	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19043.hp1 HG03041.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0095 a0001c0001t0001g0033 a0001c0001t0003g0095	2	116	0.0172	15	c.55+ others(32): Show c.55+39740_55+39754dupAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2864740	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00639.hp1 HG00639.hp2 others(26): Show HG00438.hp1 HG00639.hp1 HG00639.hp2 HG01169.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01978.hp1 HG02074.hp1 HG02165.hp1 HG02257.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02683.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18906.hp2 NA18990.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0013 a0001c0022 a0003c0008 a0004c0011 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0005t0010 a0001c0006t0004 a0001c0009t0004 a0001c0013t0007 a0001c0022t0003 a0003c0008t0001 a0004c0011t0003 a0005c0012t0009	a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0002g0074 others(26): Show a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0002g0074 a0001c0001t0003g0006 a0001c0001t0003g0058 a0001c0001t0003g0101 a0001c0001t0005g0098 a0001c0001t0005g0115 a0001c0002t0002g0035 a0001c0002t0002g0063 a0001c0003t0001g0037 a0001c0003t0001g0045 a0001c0003t0001g0116 a0001c0003t0002g0061 a0001c0004t0001g0020 a0001c0004t0002g0022 a0001c0004t0002g0064 a0001c0004t0002g0076 a0001c0004t0006g0044 a0001c0005t0010g0001 a0001c0005t0010g0085 a0001c0006t0004g0004 a0001c0009t0004g0005 a0001c0013t0007g0056 a0001c0022t0003g0083 a0003c0008t0001g0084 a0004c0011t0003g0065 a0004c0011t0003g0111 a0005c0012t0009g0093	29	116	0.2500	15	c.455 others(32): Show c.455-2011_455-1997dupAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2961231	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01361.hp2 HG02486.hp2 others(5): Show HG01175.hp1 HG01361.hp2 HG02486.hp2 HG02572.hp2 HG02738.hp2 HG02886.hp2 HG03239.hp2 HG03831.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0007c0018	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 others(5): Show a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0002t0005 a0001c0003t0002 a0001c0004t0002 a0001c0010t0003 a0007c0018t0003	a0001c0001t0002g0030 a0001c0001t0005g0115 a0001c0002t0004g0017 others(5): Show a0001c0001t0002g0030 a0001c0001t0005g0115 a0001c0002t0004g0017 a0001c0002t0005g0003 a0001c0003t0002g0072 a0001c0004t0002g0022 a0001c0010t0003g0077 a0007c0018t0003g0062	8	116	0.0690	15	c.135 others(36): Show c.1359-27109_1359-27095dupAAAAAAAAAAAAAAA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2969515	G G	GGATTATT others(8): Show GGATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02897.hp2 HG00735.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0006 a0001c0004t0001g0036 a0001c0001t0003g0006 a0001c0004t0001g0036	2	116	0.0172	15	c.135 others(36): Show c.1359-18829_1359-18815dupGATTATTATTATTAT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	3059668	T T	TTGATCAG others(8): Show TTGATCAGACTAAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG03139.hp1 HG01884.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0009 a0003c0008t0013 a0001c0001t0009 a0003c0008t0013	a0001c0001t0009g0052 a0003c0008t0013g0109 a0001c0001t0009g0052 a0003c0008t0013g0109	2	116	0.0172	15	c.34 others(26): Show c.3448_*3449insTGATCAGACTAAGCC	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding		1710		chr3	TogoVar
CNTN5_chr11_99015949_100363885	99140460	C C	CTTTTATT others(8): Show CTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0012	1	66	0.0152	15	c.-21 others(38): Show c.-210+119200_-210+119214dupATTTTATTTTATTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99168578	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00735.hp2 others(18): Show HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01099.hp2 HG01243.hp1 HG01496.hp1 HG01934.hp1 HG02109.hp2 HG02258.hp2 HG02602.hp1 HG02602.hp2 HG02723.hp2 HG02735.hp1 HG02895.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 NA18957.hp1 NA19000.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0009	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0006 a0009c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0021 a0002c0002t0022 a0004c0004t0002 a0005c0005t0003 a0006c0006t0009 a0006c0006t0014 a0009c0012t0008	a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0021 others(18): Show a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0004g0044 a0001c0001t0006g0032 a0001c0001t0006g0066 a0001c0001t0010g0023 a0001c0001t0011g0062 a0001c0001t0012g0030 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0039 a0002c0002t0005g0015 a0002c0002t0021g0055 a0002c0002t0022g0013 a0004c0004t0002g0041 a0005c0005t0003g0045 a0006c0006t0009g0042 a0006c0006t0014g0058 a0009c0012t0008g0026	21	66	0.3182	15	c.-21 others(38): Show c.-210+147319_-210+147333dupCAAAACAAAACAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99201351	T T	TTCCTTCC others(8): Show TTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp2 HG00738.hp2 others(4): Show HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01243.hp2 HG02895.hp1 HG02895.hp2 HG03041.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0002c0002t0005 a0002c0002t0022 a0004c0004t0002 a0004c0004t0013	a0001c0001t0005g0014 a0001c0001t0009g0063 a0001c0001t0010g0023 others(4): Show a0001c0001t0005g0014 a0001c0001t0009g0063 a0001c0001t0010g0023 a0002c0002t0005g0015 a0002c0002t0022g0013 a0004c0004t0002g0041 a0004c0004t0013g0050	7	66	0.1061	15	c.-20 others(38): Show c.-209-123994_-209-123993insCCTTCCTTCCTTCCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99382844	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02109.hp2 HG00738.hp1 HG01243.hp1 HG02109.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0003 a0002c0002t0004	a0001c0001t0003g0021 a0002c0002t0003g0036 a0002c0002t0004g0039 a0001c0001t0003g0021 a0002c0002t0003g0036 a0002c0002t0004g0039	3	66	0.0455	15	c.-71 others(34): Show c.-71+57360_-71+57361insTTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24			chr11	TogoVar
CNTN5_chr11_99015949_100363885	99382845	C C	CCTTTTTT others(8): Show CCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0017 a0003c0003t0017	a0003c0003t0017g0065 a0003c0003t0017g0065	1	66	0.0152	15	c.-71 others(34): Show c.-71+57361_-71+57362insCTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24			chr11	TogoVar
CNTN5_chr11_99015949_100363885	99382845	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0011 a0003c0003t0002g0011	1	66	0.0152	15	c.-71 others(34): Show c.-71+57377_-71+57391dupTTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99388982	C C	CTTATTTT others(8): Show CTTATTTTATTTTATT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03471.hp2 NA18939.hp1 HG00733.hp2 HG03471.hp2 NA18939.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0002c0002t0022 a0003c0003t0017 a0001c0001t0004 a0002c0002t0022 a0003c0003t0017	a0001c0001t0004g0029 a0002c0002t0022g0013 a0003c0003t0017g0065 a0001c0001t0004g0029 a0002c0002t0022g0013 a0003c0003t0017g0065	3	66	0.0455	15	c.-71 others(34): Show c.-71+63546_-71+63560dupATTTTATTTTATTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99432439	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	66	0.0152	15	c.-71 others(36): Show c.-71+106965_-71+106979dupTCTTTTCTTTTCTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99432464	C C	CCTTTTCT others(8): Show CCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG01099.hp1 others(6): Show HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01496.hp2 HG02004.hp2 HG02895.hp1 HG06807.hp2 NA18939.hp2 NA19070.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0002c0002 a0006c0006 others(1): Show a0001c0001 a0002c0002 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0002c0002t0005 a0002c0002t0022 a0006c0006t0009 a0007c0007t0023	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0004g0010 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0004g0010 a0001c0001t0012g0018 a0001c0001t0014g0016 a0002c0002t0005g0015 a0002c0002t0022g0013 a0006c0006t0009g0042 a0007c0007t0023g0046	9	66	0.1364	15	c.-71 others(36): Show c.-71+107000_-71+107014dupTCTTTTCTTTTCTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99448730	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp2 HG02976.hp1 HG03471.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0004 a0003c0003t0007 a0001c0001t0004 a0003c0003t0007	a0001c0001t0004g0029 a0003c0003t0007g0034 a0001c0001t0004g0029 a0003c0003t0007g0034	2	66	0.0303	15	c.-70 others(36): Show c.-70-107365_-70-107351dupATTTTATTTTATTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99508686	C C	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19000.hp2 HG03041.hp1 NA19000.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0009c0012 a0004c0004 a0009c0012	a0004c0004t0002 a0009c0012t0008 a0004c0004t0002 a0009c0012t0008	a0004c0004t0002g0001 a0009c0012t0008g0026 a0004c0004t0002g0001 a0009c0012t0008g0026	2	66	0.0303	15	c.-70 others(34): Show c.-70-47456_-70-47455insCTTTTTTTTTTTTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99523704	C C	CAGAACAG others(8): Show CAGAACAGAACAGAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	66	0.0152	15	c.-70 others(34): Show c.-70-32437_-70-32436insCAGAACAGAATAGAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99637010	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02602.hp2 HG03130.hp2 others(2): Show HG01243.hp2 HG02602.hp2 HG03130.hp2 NA18939.hp2 NA19070.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0007c0007t0023	a0001c0001t0001g0053 a0001c0001t0005g0014 a0001c0001t0006g0040 others(2): Show a0001c0001t0001g0053 a0001c0001t0005g0014 a0001c0001t0006g0040 a0001c0001t0014g0016 a0007c0007t0023g0046	5	66	0.0758	15	c.55+ others(32): Show c.55+80758_55+80772dupAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99819313	T T	TCCTCCCC others(8): Show TCCTCCCCTCTCCTCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG02004.hp1 others(4): Show HG00733.hp1 HG00735.hp1 HG02004.hp1 HG02723.hp2 HG02735.hp2 HG02976.hp2 HG03471.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0003 a0005c0005 others(1): Show a0001c0001 a0003c0003 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0003c0003t0002 a0005c0005t0001 a0006c0006t0009	a0001c0001t0001g0054 a0001c0001t0004g0029 a0001c0001t0004g0044 others(4): Show a0001c0001t0001g0054 a0001c0001t0004g0029 a0001c0001t0004g0044 a0001c0001t0009g0063 a0003c0003t0002g0061 a0005c0005t0001g0017 a0006c0006t0009g0042	7	66	0.1061	15	c.56- others(28): Show c.56-222_56-221insTCCTCCCCTCCCCTC	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99919802	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	66	0.0152	15	c.673 others(32): Show c.673+3676_673+3690dupTATTTTATTTTATTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100072990	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02886.hp1 NA18522.hp1 HG00733.hp1 HG02886.hp1 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0009 a0002c0002t0004 a0003c0003t0002 a0001c0001t0009 a0002c0002t0004 a0003c0003t0002	a0001c0001t0009g0063 a0002c0002t0004g0007 a0003c0003t0002g0027 a0001c0001t0009g0063 a0002c0002t0004g0007 a0003c0003t0002g0027	3	66	0.0455	15	c.143 others(34): Show c.1430-1147_1430-1133dupAAAAAAAAAAAAAAA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1280459	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01256.hp1 others(1): Show HG01167.hp2 HG01169.hp2 HG01256.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0019 a0001c0001 a0001c0006 a0001c0019	a0001c0001t0002 a0001c0006t0001 a0001c0019t0001 a0001c0001t0002 a0001c0006t0001 a0001c0019t0001	a0001c0001t0002g0124 a0001c0006t0001g0200 a0001c0006t0001g0201 others(1): Show a0001c0001t0002g0124 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0019t0001g0202	4	232	0.0172	15	c.454 others(32): Show c.454+1960_454+1974dupTTTTTTTTTTTTTTT	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1319833	G G	GAAAATAA others(8): Show GAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00609.hp1 others(51): Show HG00140.hp2 HG00423.hp2 HG00609.hp1 HG00741.hp1 HG01071.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01258.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02145.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03710.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18961.hp2 NA18972.hp1 NA19000.hp1 NA19043.hp1 NA19084.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0019 a0001c0024 a0002c0014 a0002c0017	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0006t0004 a0001c0007t0001 a0001c0007t0006 a0001c0008t0001 a0001c0013t0001 a0001c0019t0001 a0001c0024t0001 a0002c0014t0001 a0002c0017t0001	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0071 others(51): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0171 a0001c0002t0001g0053 a0001c0002t0001g0227 a0001c0002t0003g0079 a0001c0002t0007g0059 a0001c0002t0009g0205 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0040 a0001c0003t0001g0101 a0001c0003t0001g0224 a0001c0004t0001g0123 a0001c0005t0001g0005 a0001c0005t0001g0106 a0001c0005t0001g0159 a0001c0005t0001g0182 a0001c0005t0001g0188 a0001c0005t0001g0193 a0001c0005t0001g0196 a0001c0005t0001g0203 a0001c0005t0001g0230 a0001c0005t0004g0194 a0001c0006t0001g0037 a0001c0006t0001g0183 a0001c0006t0001g0185 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0001g0213 a0001c0006t0004g0119 a0001c0007t0001g0017 a0001c0007t0001g0048 a0001c0007t0001g0052 a0001c0007t0001g0102 a0001c0007t0001g0133 a0001c0007t0001g0134 a0001c0007t0001g0135 a0001c0007t0001g0146 a0001c0007t0001g0155 a0001c0007t0006g0170 a0001c0008t0001g0043 a0001c0008t0001g0075 a0001c0008t0001g0087 a0001c0008t0001g0197 a0001c0008t0001g0218 a0001c0013t0001g0199 a0001c0019t0001g0202 a0001c0024t0001g0070 a0002c0014t0001g0220 a0002c0014t0001g0232 a0002c0017t0001g0179	54	232	0.2328	15	c.762 others(32): Show c.762-1787_762-1773dupTAAAATAAAATAAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1332526	G G	GGGGCGAG others(8): Show GGGGCGAGCAAGGAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01123.hp1 HG02486.hp2 others(1): Show HG00733.hp2 HG01123.hp1 HG02486.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0011 a0001c0002 a0002c0011	a0001c0002t0001 a0002c0011t0001 a0001c0002t0001 a0002c0011t0001	a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0227 others(1): Show a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0227 a0002c0011t0001g0006	4	232	0.0172	15	c.136 others(34): Show c.1364+2592_1364+2593insGGCGAGCAAGGAATG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1348157	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01952.hp2 others(20): Show HG00609.hp1 HG01123.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03209.hp1 NA18961.hp1 NA19030.hp1 NA19043.hp2 NA19065.hp1 NA19084.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0002c0011 a0002c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0002c0011t0001 a0002c0014t0001	a0001c0001t0001g0044 a0001c0001t0001g0171 a0001c0002t0001g0094 others(20): Show a0001c0001t0001g0044 a0001c0001t0001g0171 a0001c0002t0001g0094 a0001c0002t0001g0122 a0001c0002t0003g0069 a0001c0003t0001g0031 a0001c0003t0001g0101 a0001c0003t0001g0112 a0001c0004t0001g0034 a0001c0005t0001g0196 a0001c0005t0001g0215 a0001c0005t0001g0230 a0001c0006t0001g0162 a0001c0006t0001g0183 a0001c0006t0001g0195 a0001c0006t0001g0223 a0001c0006t0001g0229 a0001c0007t0001g0135 a0001c0008t0001g0212 a0001c0008t0001g0218 a0001c0009t0001g0150 a0002c0011t0001g0217 a0002c0014t0001g0232	23	232	0.0991	15	c.136 others(34): Show c.1365-4162_1365-4148dupAAAAAAAAAAAAAAA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1386907	T T	TATATGCG others(8): Show TATATGCGTATATTTG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0023 a0001c0004t0001g0023	1	232	0.0043	15	c.270 others(34): Show c.2704+1111_2704+1125dupATATGCGTATATTTG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1406674	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	232	0.0043	15	c.32 others(26): Show c.3256_*3257insGTGTGTGTGTGTGTG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding		2458		chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146352750	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0021 a0004c0014t0021	a0004c0014t0021g0022 a0004c0014t0021g0022	1	40	0.0250	15	c.97+ others(34): Show c.97+235784_97+235798dupTTTTTTTTTTTTTTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146404141	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0024 a0002c0016t0004g0024	1	40	0.0250	15	c.97+ others(34): Show c.97+287169_97+287170insAAAAAAAAAAAAACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146529965	A A	AAACAACA others(8): Show AAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp1 NA19030.hp1 HG02897.hp1 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0001c0001t0001 a0001c0001t0012 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0008 a0001c0001t0001g0038 a0001c0001t0012g0034 a0001c0002t0001g0008	3	40	0.0750	15	c.98- others(34): Show c.98-244288_98-244274dupCAACAACAACAACAA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)