Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTCTTT others(23): Show CTTTCTTTTTCTTTCTTTCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0335 a0001c0015t0001g0335	1	360	0.0028	30	c.43 others(41): Show c.4364_*4365insAAAGAAAGAAAGGAAAGAAAGAAAAAGAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57879799	C C	CTTTTTCT others(23): Show CTTTTTCTTTCTTTCCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0306 a0001c0013t0001g0306	1	360	0.0028	30	c.43 others(41): Show c.4364_*4365insAAAGAAAGAAAGAAAGGAAAGAAAGAAAAA	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding		2540		chr16	TogoVar
CNGB1_chr16_57877340_57976128	57885557	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0008 a0008	a0008c0032 a0008c0032	a0008c0032t0002 a0008c0032t0002	a0008c0032t0002g0269 a0008c0032t0002g0269	1	360	0.0028	30	c.346 others(49): Show c.3463-1101_3463-1100insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	CNGB1	ENSG00000070729.14	transcript	ENST00000251102.13	protein_coding	32/32			chr16	TogoVar
CNKSR2_chrX_21369418_21659689	21635406	G G	GTATATAT others(23): Show GTATATATACACATATATATGTATATGTGTA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	163	0.0061	30	c.269 others(51): Show c.2693-13424_2693-13423insATATATACACATATATATGTATAT GTGTAT	CNKSR2	ENSG00000149970.16	transcript	ENST00000379510.5	protein_coding	20/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNKSR3_chr6_154382515_154515685	154382571	A A	AGGGAGGG others(23): Show AGGGAGGGCAGGGGAGGGGAGGGGAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG02559.hp2 others(2): Show HG01243.hp1 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0059 a0001c0001t0199 a0001c0002t0162 others(2): Show a0001c0001t0059 a0001c0001t0199 a0001c0002t0162 a0001c0005t0119 a0001c0005t0197	a0001c0001t0059g0042 a0001c0001t0199g0338 a0001c0002t0162g0297 others(2): Show a0001c0001t0059g0042 a0001c0001t0199g0338 a0001c0002t0162g0297 a0001c0005t0119g0298 a0001c0005t0197g0336	5	342	0.0146	30	c.23 others(43): Show c.23782_*23783insCTCCCCTCCCCTCCCCTCCCCTGCCCTCCC	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4943		chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154382579	C C	CAGGGGAG others(23): Show CAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0061 a0001c0001t0030g0061	1	342	0.0029	30	c.23 others(43): Show c.23774_*23775insCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4935		chr6	TogoVar
CNKSR3_chr6_154382515_154515685	154382594	G G	GAGGGCAG others(23): Show GAGGGCAGGGGAGGGCAGGGGAGGGGAGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0021 a0001c0001t0049g0021	1	342	0.0029	30	c.23 others(43): Show c.23759_*23760insGCCCTCCCCTCCCCTGCCCTCCCCTGCCCT	CNKSR3	ENSG00000153721.19	transcript	ENST00000607772.6	protein_coding		4920		chr6	TogoVar
CNMD_chr13_52698264_52744820	52701802	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp2 others(14): Show HG00408.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01346.hp1 HG01884.hp1 HG02300.hp1 HG03139.hp1 HG03239.hp1 HG04199.hp2 NA18965.hp2 NA18968.hp1 NA18981.hp1 NA19009.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0044 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0153 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0216 a0001c0001t0001g0224 a0001c0001t0002g0200 a0001c0001t0006g0033	17	330	0.0515	30	c.17 others(41): Show c.1792_*1793insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CNMD	ENSG00000136110.13	transcript	ENST00000377962.8	protein_coding		1461		chr13	TogoVar
CNNM1_chr10_99324356_99399330	99347576	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA19009.hp1 NA19075.hp2 HG01517.hp2 NA19009.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0001 a0001c0005t0003	a0001c0001t0001g0128 a0001c0005t0001g0108 a0001c0005t0003g0107 a0001c0001t0001g0128 a0001c0005t0001g0108 a0001c0005t0003g0107	3	320	0.0094	30	c.157 others(49): Show c.1574-9913_1574-9912insCACACACACACACACACACACACACA CACA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(23): Show CAGAAAGAAAGAAAGAAAAGAAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00609.hp2 others(18): Show HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01074.hp2 HG01109.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp2 HG02273.hp1 HG02698.hp1 HG02698.hp2 HG03688.hp1 NA18747.hp1 NA18945.hp2 NA18995.hp1 NA18995.hp2 NA19009.hp1 NA19066.hp1 NA19067.hp2 NA19075.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0005t0001 a0001c0005t0003 a0002c0003t0001 a0004c0012t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 others(18): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0098 a0001c0001t0005g0066 a0001c0001t0009g0099 a0001c0005t0001g0103 a0001c0005t0001g0108 a0001c0005t0003g0107 a0002c0003t0001g0084 a0004c0012t0001g0012	21	320	0.0656	30	c.157 others(47): Show c.1574-933_1574-932insAGAAAAGAAAGAAAGAAAGAAAGAAAGA AA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM1_chr10_99324356_99399330	99356562	C C	CAGAAAGA others(23): Show CAGAAAGAAAGAAAGAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0024 a0005c0010t0024	a0005c0010t0024g0050 a0005c0010t0024g0050	1	320	0.0031	30	c.157 others(47): Show c.1574-929_1574-928insAGAAAAGAAAGAAAGAAAGAAAGAAAGA AA	CNNM1	ENSG00000119946.12	transcript	ENST00000356713.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	103072455	A A	ACCACCAG others(23): Show ACCACCAGGCAGGCGACCCCGCTTCTCCCCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	270	0.0037	30	c.223 others(47): Show c.2233+675_2233+704dupCGCCACCAGGCAGGCGACCCCGCTTCTC CC	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	354	0.0028	30	c.159 others(49): Show c.1596-4968_1596-4967insAAAAAAAAAAAAAAAAAATATATATA TATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18974.hp1 NA18983.hp1 NA18946.hp1 NA18974.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0198 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0198	3	354	0.0085	30	c.159 others(49): Show c.1596-4968_1596-4967insAAAAAAAATATATATATATATATATA TATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT10_chr3_32680188_32778875	32754489	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02630.hp1 NA18969.hp2 HG00438.hp2 HG02630.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0202 a0001c0001t0001g0166 a0001c0001t0001g0182 a0001c0001t0001g0202	3	354	0.0085	30	c.159 others(49): Show c.1596-4968_1596-4967insAAAATATATATATATATATATATATA TATA	CNOT10	ENSG00000182973.20	transcript	ENST00000328834.10	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNOT3_chr19_54132762_54160681	54133878	C C	CCCCTCTC others(23): Show CCCCTCTCTCCACCTCCCCTCACTCCACCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03486.hp2 HG03041.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	223	0.0090	30	c.-41 others(41): Show c.-4166_-4165insCCCTCTCTCCACCTCCCCTCACTCCACCTT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3883		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54133893	C C	CCCTCACT others(23): Show CCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	223	0.0045	30	c.-41 others(41): Show c.-4151_-4150insCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3868		chr19	TogoVar
CNOT3_chr19_54132762_54160681	54142433	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG01123.hp1 others(6): Show HG00280.hp1 HG00735.hp1 HG01123.hp1 HG01257.hp1 HG02040.hp2 HG02886.hp2 HG03834.hp2 NA18981.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0034 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0074	9	223	0.0404	30	c.-50 others(45): Show c.-50-478_-50-477insACACACACACACACACACACACACACACAC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT6L_chr4_77708387_77824368	77807276	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	328	0.0031	30	c.5+1 others(45): Show c.5+12027_5+12028insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6L_chr4_77708387_77824368	77819049	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18980.hp1 NA19064.hp2 HG00558.hp2 NA18980.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0018g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0018g0281	3	328	0.0092	30	c.5+2 others(41): Show c.5+254_5+255insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	CNOT6L	ENSG00000138767.14	transcript	ENST00000504123.7	protein_coding	1/11			chr4	TogoVar
CNOT6_chr5_180489379_180583358	180533312	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	334	0.0030	30	c.112 others(47): Show c.112+3926_112+3955dupATATATATATATATATATATATATATAT AT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNOT6_chr5_180489379_180583358	180538686	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0095 a0001c0001t0058g0095	1	334	0.0030	30	c.112 others(47): Show c.112+9299_112+9328dupTATATATATATATATATATATATATATA TA	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	426	0.0024	30	c.100 others(49): Show c.100-17958_100-17957insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNPY1_chr7_155496129_155551559	155527054	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0377 a0001c0001t0008g0377	1	426	0.0024	30	c.100 others(49): Show c.100-17958_100-17957insAAAAAAGAAAGAAAGAAAGAAAGAAA GAAA	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNST_chr1_246561456_246673595	246583157	T T	TTTGGTGG others(23): Show TTTGGTGGTTATGAGTGCTTTCATTCCTTCC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	320	0.0031	30	c.-51 others(47): Show c.-51-8353_-51-8324dupTGGTGGTTATGAGTGCTTTCATTCCTTC CT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTLN_chr9_17130040_17508923	17312349	A A	ATATATAT others(23): Show ATATATATATATATATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0003 a0022c0024t0003	a0022c0024t0003g0024 a0022c0024t0003g0024	1	218	0.0046	30	c.134 others(49): Show c.1341+3098_1341+3127dupTATATATATATATATTATATATATAT ATAT	CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTN1_chr12_40687439_41077415	40844069	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 NA18961.hp1 NA19010.hp2 HG00733.hp1 NA18961.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0111 a0001c0002t0001g0085 a0001c0002t0001g0089 a0001c0002t0001g0111	3	230	0.0130	30	c.-76 others(49): Show c.-76-64272_-76-64271insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN1_chr12_40687439_41077415	40924881	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp2 HG01256.hp2 others(9): Show HG00408.hp1 HG01123.hp2 HG01256.hp2 HG02622.hp1 HG02895.hp1 HG03239.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp1 NA18957.hp2 NA18959.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0005t0002	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0101 a0001c0001t0002g0011 a0001c0001t0002g0027 a0001c0001t0002g0096 a0001c0001t0002g0175 a0001c0001t0012g0125 a0001c0001t0013g0133 a0001c0002t0001g0025 a0001c0005t0002g0081 a0001c0005t0002g0173	12	230	0.0522	30	c.496 others(45): Show c.496+246_496+247insTATATATATATATATATATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN3_chr3_74257568_74619659	74355212	A A	ACAACTTT others(23): Show ACAACTTTCACTTTAACTAATTTCTTATAAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0158 a0002c0005t0005g0158	1	174	0.0058	30	c.136 others(49): Show c.1364+6677_1364+6678insATTATAAGAAATTAGTTAAAGTGAAA GTTG	CNTN3	ENSG00000113805.9	transcript	ENST00000263665.7	protein_coding	11/22			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2120351	T T	TTATATAT others(23): Show TTATATATATATATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0087 a0001c0002t0007g0087	1	116	0.0086	30	c.-14 others(51): Show c.-145+19732_-145+19733insAATATATATATATATATATATATA TATATA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340705	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03209.hp2 HG02165.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0011 a0001c0005t0006 a0001c0003t0011 a0001c0005t0006	a0001c0003t0011g0113 a0001c0005t0006g0032 a0001c0003t0011g0113 a0001c0005t0006g0032	2	116	0.0172	30	c.-89 others(47): Show c.-89+1472_-89+1473insGAGAGAGAGAGAGAGAGAGAGAGAGAGG GG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24			chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340706	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp2 HG01884.hp1 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0002 a0001c0025t0001 a0001c0003t0002 a0001c0025t0001	a0001c0003t0002g0073 a0001c0025t0001g0100 a0001c0003t0002g0073 a0001c0025t0001g0100	2	116	0.0172	30	c.-89 others(47): Show c.-89+1474_-89+1475insGAGAGAGAGAGAGAGAGAGAGAGAGGGG GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340708	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03130.hp2 HG02451.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0006 a0001c0002t0001 a0001c0004t0006	a0001c0002t0001g0108 a0001c0004t0006g0068 a0001c0002t0001g0108 a0001c0004t0006g0068	2	116	0.0172	30	c.-89 others(47): Show c.-89+1476_-89+1477insGAGAGAGAGAGAGAGAGAGAGAGGGGGA GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0034 a0001c0007t0003g0034	1	116	0.0086	30	c.-89 others(47): Show c.-89+1501_-89+1502insGGGGAGAGAGAGAGAGAGAGAGAGAGAG AG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TAGAGAGA others(23): Show TAGAGAGAGAGAGAGAGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0001 a0001c0005t0010g0001	1	116	0.0086	30	c.-89 others(47): Show c.-89+1499_-89+1500insGGGGAGAGAGAGAGAGAGAGAGAGAGAG AG	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATAGAGA others(23): Show TATAGAGAGAGAGAGAGAGAGAGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0010 a0001c0005t0006g0010	1	116	0.0086	30	c.-89 others(47): Show c.-89+1478_-89+1479insTAGAGAGAGAGAGAGAGAGAGGGGGAGA GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02622.hp2 HG02683.hp1 others(1): Show HG00735.hp1 HG02622.hp2 HG02683.hp1 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0001c0005 others(1): Show a0001c0002 a0001c0004 a0001c0005 a0003c0008	a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 others(1): Show a0001c0002t0002 a0001c0004t0001 a0001c0005t0001 a0003c0008t0001	a0001c0002t0002g0063 a0001c0004t0001g0036 a0001c0005t0001g0090 others(1): Show a0001c0002t0002g0063 a0001c0004t0001g0036 a0001c0005t0001g0090 a0003c0008t0001g0084	4	116	0.0345	30	c.-89 others(47): Show c.-89+1478_-89+1479insTATATATATATATAGAGAGAGAGAGAGA GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2340710	T T	TATATATA others(23): Show TATATATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	116	0.0086	30	c.-89 others(47): Show c.-89+1478_-89+1479insTATATATATATATATAGAGAGAGAGAGA GA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2481067	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTCTCTTTCTCTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	116	0.0086	30	c.-88 others(49): Show c.-88-90346_-88-90345insTTCTTTCTTTCTCTCTTTCTCTCTTT CTCT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2520259	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0007 a0001c0013t0007	a0001c0013t0007g0056 a0001c0013t0007g0056	1	116	0.0086	30	c.-88 others(49): Show c.-88-51155_-88-51126dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2607610	C C	CCACACAC others(23): Show CCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02738.hp1 HG02486.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0008 a0001c0002t0001g0038 a0001c0001t0003g0008 a0001c0002t0001g0038	2	116	0.0172	30	c.55+ others(47): Show c.55+36068_55+36069insCACACACACACACACACACACACACACA CA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	4/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN4_chr3_2093866_3062959	2815873	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0001 a0005c0012t0009 a0001c0002t0001 a0005c0012t0009	a0001c0002t0001g0021 a0005c0012t0009g0093 a0001c0002t0001g0021 a0005c0012t0009g0093	2	116	0.0172	30	c.359 others(47): Show c.359-3595_359-3594insATATATATATATATATATATATATATAT AT	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99432458	T T	TTCTTTTC others(23): Show TTCTTTTCTTTCCTTTTCTTTTCTTTTCTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp2 HG02109.hp1 NA18522.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0005 a0003c0003 a0005c0005	a0003c0003t0007 a0005c0005t0010 a0003c0003t0007 a0005c0005t0010	a0003c0003t0007g0057 a0005c0005t0010g0006 a0003c0003t0007g0057 a0005c0005t0010g0006	2	66	0.0303	30	c.-71 others(51): Show c.-71+106979_-71+106980insTCTTTCCTTTTCTTTTCTTTTCTT GTCTTT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99727312	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0040 a0001c0001t0006g0040	1	66	0.0152	30	c.56- others(47): Show c.56-92210_56-92209insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941567	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0055 a0002c0002t0021g0055	1	66	0.0152	30	c.674 others(49): Show c.674-15236_674-15235insCACACACACACACACACACACACACA CACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	99941571	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0012 a0002c0002 a0009c0012	a0002c0002t0005 a0009c0012t0008 a0002c0002t0005 a0009c0012t0008	a0002c0002t0005g0015 a0009c0012t0008g0026 a0002c0002t0005g0015 a0009c0012t0008g0026	2	66	0.0303	30	c.674 others(49): Show c.674-15220_674-15219insCACACACACACACACACACACACACA CACA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN5_chr11_99015949_100363885	100060991	T T	TTAATTGC others(23): Show TTAATTGCTTTCCTGAAATACGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01081.hp1 others(32): Show HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01934.hp2 HG02004.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02602.hp2 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03471.hp1 HG03471.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA19000.hp1 NA19043.hp2 NA19070.hp1 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0012	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0008c0008 a0009c0012 a0012c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0003c0003t0002 a0003c0003t0007 a0003c0003t0017 a0004c0004t0002 a0005c0005t0001 a0005c0005t0003 a0005c0005t0018 a0006c0006t0009 a0006c0006t0013 a0006c0006t0014 a0008c0008t0007 a0009c0012t0008 a0012c0013t0008	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0021 others(32): Show a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0060 a0001c0001t0004g0010 a0001c0001t0004g0029 a0001c0001t0004g0044 a0001c0001t0005g0014 a0001c0001t0010g0023 a0001c0001t0010g0047 a0001c0001t0016g0049 a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0007 a0002c0002t0004g0039 a0002c0002t0008g0019 a0003c0003t0002g0011 a0003c0003t0002g0012 a0003c0003t0002g0027 a0003c0003t0007g0034 a0003c0003t0007g0057 a0003c0003t0017g0065 a0004c0004t0002g0051 a0005c0005t0001g0017 a0005c0005t0001g0035 a0005c0005t0003g0045 a0005c0005t0018g0028 a0006c0006t0009g0042 a0006c0006t0013g0025 a0006c0006t0014g0058 a0008c0008t0007g0038 a0009c0012t0008g0026 a0012c0013t0008g0031	35	66	0.5303	30	c.981 others(45): Show c.981-202_981-201insCGAAAGAAAAGTAATTGCTTTCCTGAAATA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1098789	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	232	0.0043	30	c.-83 others(47): Show c.-83+5698_-83+5699insTATATATATATATATATATATATATATA TA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1119322	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0223 a0001c0006t0001g0223	1	232	0.0043	30	c.-83 others(49): Show c.-83+26204_-83+26233dupTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN6_chr3_1088024_1409217	1160344	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01361.hp1 HG01099.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0152 a0001c0008t0001g0167 a0001c0001t0001g0152 a0001c0008t0001g0167	2	232	0.0086	30	c.55+ others(47): Show c.55+12305_55+12306insTATATATATATATATATATATATATATA TA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar

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