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
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02129.hp2 NA18612.hp1 others(4): Show HG00733.hp2 HG02129.hp2 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0002c0002t0004	a0001c0001t0002g0073 a0001c0001t0006g0062 a0001c0001t0006g0099 others(4): Show a0001c0001t0002g0073 a0001c0001t0006g0062 a0001c0001t0006g0099 a0001c0001t0007g0234 a0001c0001t0010g0033 a0001c0001t0010g0315 a0002c0002t0004g0069	7	354	0.0198	30	c.-72 others(49): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 NA19012.hp2 NA19090.hp2 HG03831.hp2 NA19012.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0169 a0001c0001t0007g0146 a0001c0001t0007g0304 a0001c0001t0002g0169 a0001c0001t0007g0146 a0001c0001t0007g0304	3	354	0.0085	30	c.57 others(41): Show c.5736_*5737insTATATATATATATATATATATATATTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(23): Show ATATATATATATATATATATATTATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	354	0.0028	30	c.57 others(41): Show c.5736_*5737insTATATATATATATATATATATTATTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	354	0.0028	30	c.57 others(41): Show c.5736_*5737insTATATATATATATATATATATTTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004708	G G	GCGATGAT others(23): Show GCGATGATAGTGATGATGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0034 a0034	a0034c0036 a0034c0036	a0034c0036t0000 a0034c0036t0000	a0034c0036t0000g0279 a0034c0036t0000g0279	1	346	0.0029	30	c.963 others(47): Show c.963+3287_963+3288insTCACCATCATCACCATCATCACTATCAT CG	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C5_chr9_120947335_121055275	120969306	G G	GAAGTCTT others(23): Show GAAGTCTTTAAATAATTAACTTAAATAATTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01981.hp2 others(25): Show HG00738.hp1 HG01175.hp2 HG01981.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0008 a0009 a0010 a0018	a0001c0001 a0001c0016 a0003c0004 others(6): Show a0001c0001 a0001c0016 a0003c0004 a0006c0008 a0007c0009 a0008c0010 a0009c0012 a0010c0014 a0018c0023	a0001c0001t0001 a0001c0016t0001 a0003c0004t0001 others(6): Show a0001c0001t0001 a0001c0016t0001 a0003c0004t0001 a0006c0008t0001 a0007c0009t0001 a0008c0010t0001 a0009c0012t0001 a0010c0014t0001 a0018c0023t0001	a0001c0001t0001g0227 a0001c0016t0001g0003 a0003c0004t0001g0017 others(23): Show a0001c0001t0001g0227 a0001c0016t0001g0003 a0003c0004t0001g0017 a0003c0004t0001g0018 a0003c0004t0001g0020 a0003c0004t0001g0056 a0006c0008t0001g0069 a0006c0008t0001g0104 a0006c0008t0001g0105 a0006c0008t0001g0106 a0006c0008t0001g0240 a0006c0008t0001g0241 a0007c0009t0001g0206 a0007c0009t0001g0207 a0007c0009t0001g0208 a0007c0009t0001g0209 a0008c0010t0001g0198 a0008c0010t0001g0199 a0008c0010t0001g0200 a0008c0010t0001g0210 a0009c0012t0001g0062 a0009c0012t0001g0064 a0009c0012t0001g0066 a0010c0014t0001g0005 a0010c0014t0001g0219 a0018c0023t0001g0205	28	276	0.1015	30	c.416 others(47): Show c.4163-189_4163-188insTAATTATTTAAGTTAATTATTTAAAGAC TT	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	32/40			chr9	TogoVar
C5_chr9_120947335_121055275	121024324	A A	AGGGGGAG others(23): Show AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	276	0.0036	30	c.100 others(47): Show c.1001-806_1001-805insCCTCCCCCTCCCCTCCCCCTCCCCTCCC CC	C5	ENSG00000106804.10	transcript	ENST00000223642.3	protein_coding	9/40			chr9	TogoVar
C5orf34_chr5_43481709_43520148	43519819	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	340	0.0029	30	c.-50 others(41): Show c.-5051_-5050insCACACACACACACACACACACACACACACA	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding		4672		chr5	TogoVar
C5orf46_chr5_147887722_147911538	147911208	G G	GTCTATTC others(23): Show GTCTATTCTATTCTATTCTATTCTATTCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02280.hp2 HG03453.hp2 others(3): Show HG02074.hp1 HG02280.hp2 HG03453.hp2 NA18979.hp2 NA19030.hp1 NA19083.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0001c0001t0001 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0002c0003t0001g0014 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0002c0003t0001g0014 a0003c0002t0001g0002 a0003c0002t0001g0089	6	452	0.0133	30	c.-47 others(41): Show c.-4708_-4707insATAGAATAGAATAGAATAGAATAGAATAGA	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		4671		chr5	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0229	1	380	0.0026	30	c.216 others(47): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1016738	C C	CCAGTGCA others(23): Show CCAGTGCACGCCAGCGCACAGCAGCACACAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02572.hp1 HG02109.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0287 a0001c0001t0014g0158 a0001c0001t0005g0287 a0001c0001t0014g0158	2	326	0.0061	30	c.130 others(47): Show c.130-6596_130-6595insCTGTGTGCTGCTGTGCGCTGGCGTGCAC TG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016782	A A	ACGCCAGT others(23): Show ACGCCAGTGCACAGCAGCACACAGCACACGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show HG01081.hp2 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0238 others(4): Show a0001c0001t0001g0099 a0001c0001t0003g0205 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0007g0144	7	326	0.0215	30	c.130 others(47): Show c.130-6640_130-6639insGCGTGTGCTGTGTGCTGCTGTGCACTGG CG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1059904	A A	AGGCGGGT others(23): Show AGGCGGGTCTTAGTGAGGCAGGTCTTAGTGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01928.hp2 HG01934.hp2 others(9): Show HG01081.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01993.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG03540.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0079 a0001c0001t0002g0211 a0001c0001t0002g0220 others(9): Show a0001c0001t0001g0079 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0003g0205 a0001c0001t0003g0210 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0007g0144	12	326	0.0368	30	c.130 others(49): Show c.130-49791_130-49762dupCCACTAAGACCTGCCTCACTAAGACC CGCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1059971	G G	GTAGTGGG others(23): Show GTAGTGGGGCGGGTCTTAGTGGGGCGGGTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp2 HG02895.hp1 HG01109.hp2 HG02809.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0099 a0001c0001t0002g0242 a0001c0001t0020g0001 a0001c0001t0001g0099 a0001c0001t0002g0242 a0001c0001t0020g0001	3	326	0.0092	30	c.130 others(49): Show c.130-49858_130-49829dupAGACCCGCCCCACTAAGACCCGCCCC ACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1060001	T T	TTAGTGGG others(23): Show TTAGTGGGGCGGGTCTGTAGTGGGGCGGGTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp2 HG01074.hp2 others(15): Show HG00741.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02735.hp2 HG03098.hp2 HG03710.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0026 a0001c0001t0007 a0001c0001t0010 a0001c0001t0026	a0001c0001t0007g0118 a0001c0001t0007g0124 a0001c0001t0007g0126 others(15): Show a0001c0001t0007g0118 a0001c0001t0007g0124 a0001c0001t0007g0126 a0001c0001t0007g0127 a0001c0001t0007g0129 a0001c0001t0007g0135 a0001c0001t0007g0146 a0001c0001t0010g0119 a0001c0001t0010g0120 a0001c0001t0010g0121 a0001c0001t0010g0122 a0001c0001t0010g0123 a0001c0001t0010g0125 a0001c0001t0010g0134 a0001c0001t0010g0136 a0001c0001t0010g0138 a0001c0001t0010g0149 a0001c0001t0026g0175	18	326	0.0552	30	c.130 others(49): Show c.130-49859_130-49858insGACCCGCCCCACTACAGACCCGCCCC ACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1060034	G G	GTAGTGAG others(23): Show GTAGTGAGGCGGGTCTTAGTGAGGCGGGTCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03225.hp2 HG03453.hp1 HG01243.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0012g0292 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0012g0292	3	326	0.0092	30	c.130 others(49): Show c.130-49921_130-49892dupAGACCCGCCTCACTAAGACCCGCCTC ACTA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8A_chr1_56849797_56923223	56885317	T T	TATATATT others(23): Show TATATATTTATTTAAATATATATTTACATAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	366	0.0027	30	c.856 others(45): Show c.856-606_856-605insATTTATTTAAATATATATTTACATAAATAT	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8A_chr1_56849797_56923223	56885429	T T	TAAATATA others(23): Show TAAATATATATTTATGTAAATATATATTTAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03453.hp1 HG02572.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	366	0.0055	30	c.856 others(45): Show c.856-497_856-496insAATATATATTTATGTAAATATATATTTAAA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8A_chr1_56849797_56923223	56885429	T T	TAAATATA others(23): Show TAAATATATATTTATTTAAATATATATTTAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG02717.hp1 others(6): Show HG01109.hp2 HG02109.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0003c0003t0002 a0006c0006t0001	a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0003g0077 others(6): Show a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0003g0077 a0001c0001t0003g0207 a0001c0001t0003g0208 a0003c0003t0002g0081 a0003c0003t0002g0213 a0006c0006t0001g0082 a0006c0006t0001g0089	9	366	0.0246	30	c.856 others(45): Show c.856-497_856-496insAATATATATTTATTTAAATATATATTTAAA	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf34_chr8_68325955_68824023	68376184	C C	CATAAAAT others(23): Show CATAAAATAAAATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp1 HG02615.hp1 others(7): Show HG02055.hp1 HG02109.hp1 HG02615.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp2 HG03540.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0002c0007 a0003c0006 a0003c0008	a0001c0001t0001 a0001c0001t0006 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0005t0001 a0001c0005t0002 a0002c0003t0002 a0002c0007t0001 a0002c0007t0003 a0003c0006t0001 a0003c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0001t0006g0127 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0113 a0001c0001t0006g0127 a0001c0005t0001g0044 a0001c0005t0002g0042 a0002c0003t0002g0109 a0002c0007t0001g0045 a0002c0007t0003g0041 a0003c0006t0001g0125 a0003c0008t0001g0123	10	128	0.0781	30	c.327 others(49): Show c.327+44847_327+44876dupTAAAATAAAATAAAATAAAATAAAAT AAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68466765	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp2 HG02622.hp2 others(3): Show HG01346.hp2 HG01891.hp2 HG02622.hp2 HG02647.hp1 HG02818.hp1 HG03195.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0018 a0001c0001 a0002c0003 a0004c0018	a0001c0001t0001 a0002c0003t0001 a0004c0018t0007 a0001c0001t0001 a0002c0003t0001 a0004c0018t0007	a0001c0001t0001g0021 a0001c0001t0001g0094 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0120 a0002c0003t0001g0086 a0004c0018t0007g0126	6	128	0.0469	30	c.608 others(47): Show c.608-1927_608-1926insTATATATATATATATATATATATATATA TG	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	3/13			chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774327	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0048 a0002c0004t0001g0048	1	128	0.0078	30	c.140 others(49): Show c.1405-2071_1405-2070insATATATATATATATATATATATATAT ATAT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	128	0.0078	30	c.140 others(49): Show c.1405-1432_1405-1431insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf88_chr8_90953471_90990238	90968657	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02132.hp2 HG02148.hp1 others(4): Show HG00735.hp2 HG02132.hp2 HG02148.hp1 HG02559.hp2 HG02622.hp1 NA18952.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0177 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0002g0081 a0001c0001t0002g0106	7	368	0.0190	30	c.223 others(47): Show c.223+2408_223+2409insATATATATATATATATATATATATATAT AT	C8orf88	ENSG00000253250.3	transcript	ENST00000517562.3	protein_coding	4/5			chr8	TogoVar
C9_chr5_39279140_39369495	39282138	T T	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18943.hp2 NA18953.hp1 others(3): Show NA18612.hp1 NA18943.hp2 NA18953.hp1 NA18969.hp2 NA19083.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0005 a0001c0001t0001 a0003c0003t0005	a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0148 a0001c0001t0001g0254 a0001c0001t0001g0262 a0003c0003t0005g0219	6	394	0.0152	30	c.30 others(41): Show c.3060_*3061insGAAAGAAAGAAAGAGAAAGAAAGAAAGAAA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2001		chr5	TogoVar
C9_chr5_39279140_39369495	39333554	A A	ATCTCCCT others(23): Show ATCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0310 a0002c0002t0001g0310	1	394	0.0025	30	c.477 others(47): Show c.477-1741_477-1740insGGGAGAGGGAGAGGGAGAGGGAGAGGGA GA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9_chr5_39279140_39369495	39359102	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0358 a0002c0002t0001g0358	1	394	0.0025	30	c.77+ others(45): Show c.77+5285_77+5286insTATATATATATATATATATATATACACACA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAAAA others(23): Show AAAGAAAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	466	0.0022	30	c.-23 others(41): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTTTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209892	A A	AAAGAGAA others(23): Show AAAGAGAAGAGAAGAGAAGAGAAGAGAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01255.hp2 others(23): Show HG00140.hp1 HG00741.hp1 HG01255.hp2 HG01261.hp2 HG01515.hp2 HG01934.hp1 HG02071.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02735.hp2 HG04184.hp1 NA18940.hp2 NA18952.hp1 NA18963.hp1 NA18974.hp2 NA18980.hp1 NA18997.hp1 NA19059.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp1 NA19084.hp2 NA19090.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 a0001c0002t0007 a0001c0003t0013 a0003c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0094 a0001c0001t0001g0109 a0001c0001t0008g0009 a0001c0001t0008g0017 a0001c0001t0012g0018 a0001c0001t0014g0014 a0001c0001t0017g0022 a0001c0001t0039g0102 a0001c0002t0007g0066 a0001c0003t0013g0090 a0003c0007t0008g0080	26	466	0.0558	30	c.-23 others(41): Show c.-2314_-2313insCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1734		chr9	TogoVar
C9orf152_chr9_110194561_110213159	110209936	A A	AGAAGAGA others(23): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0157 a0001c0002t0046g0157	1	466	0.0022	30	c.-23 others(41): Show c.-2358_-2357insGCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		1778		chr9	TogoVar
C9orf153_chr9_86215265_86264657	86231600	T T	TATATATA others(23): Show TATATATATATATATACATGTATGTATATGC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02615.hp1 HG02717.hp2 others(3): Show HG01255.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG03130.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0009 a0002c0002t0005 a0002c0002t0009	a0002c0002t0005g0188 a0002c0002t0005g0250 a0002c0002t0005g0252 others(3): Show a0002c0002t0005g0188 a0002c0002t0005g0250 a0002c0002t0005g0252 a0002c0002t0005g0253 a0002c0002t0005g0318 a0002c0002t0009g0039	6	384	0.0156	30	c.-26 others(47): Show c.-26-2001_-26-1972dupGCATATACATACATGTATATATATATAT AT	C9orf153	ENSG00000187753.13	transcript	ENST00000339137.7	protein_coding	1/3			chr9	TogoVar
C9orf72_chr9_27541546_27578481	27573523	C C	CGCCCCGG others(23): Show CGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp2 others(33): Show HG00099.hp2 HG00140.hp1 HG00423.hp2 HG00735.hp2 HG01081.hp1 HG01261.hp1 HG01361.hp2 HG01975.hp1 HG02074.hp2 HG02083.hp2 HG02559.hp1 HG02572.hp2 HG02630.hp2 HG02647.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03927.hp1 HG04199.hp1 NA18946.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18986.hp2 NA18992.hp2 NA18997.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0002t0002 a0001c0004t0003	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0039 others(26): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0158 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0180 a0001c0001t0009g0040 a0001c0001t0017g0165 a0001c0002t0002g0050 a0001c0004t0003g0139	36	438	0.0822	30	c.-13 others(39): Show c.-138_-137insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGC	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding		43		chr9	TogoVar
CA12_chr15_63316378_63386846	63376600	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	356	0.0028	30	c.86- others(43): Show c.86-923_86-922insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937801	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	400	0.0025	30	c.-13 others(41): Show c.-1352_-1351insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1273		chr16	TogoVar
CA8_chr8_60180412_60286400	60190938	C C	CACTATAT others(23): Show CACTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG03540.hp1 HG02572.hp2 HG02895.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0043 a0002c0004t0019 a0001c0002t0043 a0002c0004t0019	a0001c0002t0043g0119 a0002c0004t0019g0082 a0002c0004t0019g0083 a0001c0002t0043g0119 a0002c0004t0019g0082 a0002c0004t0019g0083	3	344	0.0087	30	c.36 others(45): Show c.36-954_*36-953insTATATATATATATATATATATATATATAGT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02886.hp1 NA20129.hp1 HG01884.hp1 HG02886.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0006 a0001c0005t0021 a0001c0003t0006 a0001c0005t0021	a0001c0003t0006g0018 a0001c0003t0006g0026 a0001c0005t0021g0091 a0001c0003t0006g0018 a0001c0003t0006g0026 a0001c0005t0021g0091	3	344	0.0087	30	c.36 others(45): Show c.36-973_*36-972insGTGTGTGTATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01106.hp2 others(12): Show HG00738.hp2 HG01069.hp2 HG01106.hp2 HG01243.hp2 HG01934.hp1 HG02074.hp1 HG03490.hp2 NA18747.hp2 NA18953.hp1 NA18963.hp2 NA18982.hp2 NA18985.hp2 NA19079.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0049 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0049 a0001c0002t0005 a0001c0002t0035	a0001c0001t0002g0224 a0001c0001t0002g0301 a0001c0001t0002g0310 others(12): Show a0001c0001t0002g0224 a0001c0001t0002g0301 a0001c0001t0002g0310 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0006g0055 a0001c0001t0006g0067 a0001c0001t0006g0077 a0001c0001t0049g0264 a0001c0002t0005g0095 a0001c0002t0005g0170 a0001c0002t0005g0187 a0001c0002t0005g0198 a0001c0002t0005g0200 a0001c0002t0035g0193	15	344	0.0436	30	c.36 others(45): Show c.36-973_*36-972insGTGTGTATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02258.hp2 HG03471.hp2 HG02071.hp1 HG02258.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0018 a0001c0002t0013 a0001c0002t0044 a0001c0001t0018 a0001c0002t0013 a0001c0002t0044	a0001c0001t0018g0016 a0001c0002t0013g0182 a0001c0002t0044g0197 a0001c0001t0018g0016 a0001c0002t0013g0182 a0001c0002t0044g0197	3	344	0.0087	30	c.36 others(45): Show c.36-973_*36-972insGTGTATATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0204 a0001c0002t0047g0204	1	344	0.0029	30	c.36 others(45): Show c.36-973_*36-972insGTATATATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAAP1_chr9_26835685_26897802	26872553	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0025 a0007c0006t0001g0025	1	372	0.0027	30	c.666 others(49): Show c.666-11415_666-11414insATATATATATATATATATATATATAT ATAT	CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	4/5			chr9	TogoVar
CAB39L_chr13_49303650_49449064	49346085	T T	TATATATA others(23): Show TATATATATGCTAGATATATATATATGCTAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03490.hp2 HG03834.hp1 others(1): Show HG03225.hp2 HG03490.hp2 HG03834.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0001g0239 a0001c0001t0002g0319 others(1): Show a0001c0001t0001g0094 a0001c0001t0001g0239 a0001c0001t0002g0319 a0001c0001t0003g0019	4	324	0.0124	30	c.565 others(47): Show c.565-1848_565-1847insGTAGCATATATATATATCTAGCATATAT AT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GAGATATA others(23): Show GAGATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG00140.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0204 a0001c0002t0003g0014 a0001c0002t0001g0204 a0001c0002t0003g0014	2	324	0.0062	30	c.565 others(47): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT CT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49346100	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 HG02148.hp2 others(17): Show HG01175.hp2 HG01981.hp1 HG02148.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp1 NA18946.hp1 NA18946.hp2 NA18960.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19063.hp2 NA19066.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0002	a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0082 others(17): Show a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0082 a0001c0002t0001g0086 a0001c0002t0001g0145 a0001c0002t0001g0180 a0001c0002t0001g0205 a0001c0002t0001g0218 a0001c0002t0001g0269 a0001c0002t0001g0291 a0001c0002t0001g0301 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0093 a0001c0002t0002g0125 a0001c0002t0002g0179 a0001c0002t0002g0192 a0001c0002t0002g0224 a0001c0002t0002g0226 a0002c0003t0002g0244	20	324	0.0617	30	c.565 others(47): Show c.565-1863_565-1862insATATATATATATATATATATATATATAT AT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	342	0.0029	30	c.115 others(47): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABLES2_chr20_62383634_62412285	62397916	A A	AGTGGTGA others(23): Show AGTGGTGATGGTGGTGGTGGTGATGGCGGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA20905.hp1 HG02602.hp2 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0037 a0002c0003t0001g0037	2	400	0.0050	30	c.363 others(47): Show c.363-1325_363-1324insCACCGCCATCACCACCACCACCATCACC AC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62397979	G G	GATGGCGG others(23): Show GATGGCGGTGGTGGTGATGATGGTGATGGTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19087.hp1 NA18947.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	2	400	0.0050	30	c.363 others(47): Show c.363-1417_363-1388dupAACCATCACCATCATCACCACCACCGCC AT	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398088	A A	ATGGTGGT others(23): Show ATGGTGGTGGTGGTGGTGGTGGTGGTGATGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19074.hp1 NA18986.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0158 a0001c0001t0001g0147 a0001c0001t0001g0158	2	400	0.0050	30	c.363 others(47): Show c.363-1497_363-1496insCCATCACCACCACCACCACCACCACCAC CA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398097	G G	GTGACAGT others(23): Show GTGACAGTGATGGTGATGGTGGTGATGGCGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0206 a0001c0005t0004g0206	1	400	0.0025	30	c.363 others(47): Show c.363-1506_363-1505insTCGCCATCACCACCATCACCATCACTGT CA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABP5_chr19_48024383_48049079	48025655	A A	ACCTCCTT others(23): Show ACCTCCTTCTCCTCCTCCCTCTCCTTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01358.hp1 HG02055.hp2 others(22): Show HG01106.hp1 HG01358.hp1 HG02055.hp2 HG02129.hp1 HG02165.hp2 HG02486.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03490.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18952.hp1 NA18954.hp2 NA19000.hp1 NA19004.hp2 NA19074.hp1 NA19084.hp1 NA20129.hp2 NA20805.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0008	a0001c0001 a0001c0002 a0004c0007 others(2): Show a0001c0001 a0001c0002 a0004c0007 a0006c0009 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0002t0010 a0004c0007t0074 a0004c0007t0076 a0006c0009t0022 a0008c0012t0001	a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0002g0269 others(19): Show a0001c0001t0001g0011 a0001c0001t0001g0102 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0003g0007 a0001c0001t0003g0027 a0001c0001t0003g0137 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0199 a0001c0001t0007g0021 a0001c0001t0007g0026 a0001c0001t0007g0136 a0001c0001t0015g0261 a0001c0002t0010g0232 a0001c0002t0010g0233 a0004c0007t0074g0227 a0004c0007t0076g0225 a0006c0009t0022g0083 a0008c0012t0001g0041	25	376	0.0665	30	c.49 others(41): Show c.4901_*4902insAGGAGAAGGAGAGGGAGGAGGAGAAGGAGG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		3727		chr19	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0068 a0003c0004t0068	a0003c0004t0068g0218 a0003c0004t0068g0218	1	376	0.0027	30	c.20 others(41): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)