Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	142	0.0070	27	c.244 others(44): Show c.244+7110_244+7111insATATATATATATATTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	142	0.0070	27	c.244 others(44): Show c.244+7110_244+7111insATATATATATATATATTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02129.hp2 HG02055.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0044 a0001c0001t0036 a0001c0001t0044	a0001c0001t0036g0112 a0001c0001t0044g0083 a0001c0001t0036g0112 a0001c0001t0044g0083	2	142	0.0141	27	c.244 others(44): Show c.244+7110_244+7111insATATATATATATATATATTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0270 a0001c0001t0010g0270	1	338	0.0030	27	c.844 others(42): Show c.844-195_844-194insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12427700	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18959.hp2 NA18955.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0100 a0001c0002t0066 a0001c0001t0100 a0001c0002t0066	a0001c0001t0100g0135 a0001c0002t0066g0097 a0001c0001t0100g0135 a0001c0002t0066g0097	2	214	0.0094	27	c.92+ others(44): Show c.92+77815_92+77816insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12602895	G G	GTTATTAT others(20): Show GTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 NA18954.hp2 HG01256.hp1 HG01258.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0043 a0001c0001t0014 a0001c0001t0043	a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0043g0026 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0043g0026	3	214	0.0140	27	c.224 others(46): Show c.224+49542_224+49568dupATTATTATTATTATTATTATTATTAT T	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12620186	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19057.hp1 HG02165.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0001t0001 a0001c0002t0015	a0001c0001t0001g0076 a0001c0002t0015g0069 a0001c0001t0001g0076 a0001c0002t0015g0069	2	214	0.0094	27	c.225 others(46): Show c.225-46544_225-46518dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12672901	T T	TTTTTGTT others(20): Show TTTTTGTTTTGTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0035 a0001c0001t0089g0035	1	214	0.0047	27	c.299 others(44): Show c.299+6095_299+6096insGTTTTGTTTTTTTTTTTGTTTTGTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44304969	T T	TAGAGAAG others(20): Show TAGAGAAGGACTTTTTAAAACCATAGGC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG03225.hp2 HG02647.hp2 HG02818.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0004 a0001c0002t0001 a0002c0005t0010 a0001c0001t0004 a0001c0002t0001 a0002c0005t0010	a0001c0001t0004g0008 a0001c0002t0001g0021 a0002c0005t0010g0007 a0001c0001t0004g0008 a0001c0002t0001g0021 a0002c0005t0010g0007	3	242	0.0124	27	c.65+ others(44): Show c.65+20361_65+20387dupGCCTATGGTTTTAAAAAGTCCTTCTCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44323283	G G	GATGCCAG others(20): Show GATGCCAGGCCCCACTCCTCACCTCGCA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	242	0.0041	27	c.65+ others(42): Show c.65+2047_65+2073dupTGCGAGGTGAGGAGTGGGGCCTGGCAT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	198	0.0051	27	c.377 others(46): Show c.377-89323_377-89322insTTTTTTTTTTTTTTTTTTTTTTTTTT T	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	340	0.0029	27	c.161 others(44): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03491.hp1 HG03927.hp1 others(1): Show HG02683.hp2 HG03491.hp1 HG03927.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0019 a0001c0001t0003 a0001c0001t0019	a0001c0001t0003g0078 a0001c0001t0003g0086 a0001c0001t0003g0229 others(1): Show a0001c0001t0003g0078 a0001c0001t0003g0086 a0001c0001t0003g0229 a0001c0001t0019g0113	4	380	0.0105	27	c.721 others(42): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAPN12_chr19_38725192_38749474	38735639	G G	GGTAGGGA others(20): Show GGTAGGGACCGTAGGGACCGTAGGGACC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA20129.hp2 HG03516.hp2 NA20129.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0030 a0001c0001 a0013c0030	a0001c0001t0007 a0013c0030t0007 a0001c0001t0007 a0013c0030t0007	a0001c0001t0007g0297 a0013c0030t0007g0300 a0001c0001t0007g0297 a0013c0030t0007g0300	2	342	0.0059	27	c.158 others(42): Show c.1584-96_1584-95insGGTCCCTACGGTCCCTACGGTCCCTAC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN12_chr19_38725192_38749474	38736008	A A	AGGTCTCG others(20): Show AGGTCTCGGGGGTCTCGGGGGTCTCGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0029 a0006c0029	a0006c0029t0003 a0006c0029t0003	a0006c0029t0003g0308 a0006c0029t0003g0308	1	342	0.0029	27	c.158 others(43): Show c.1583+75_1583+101dupCCCGAGACCCCCGAGACCCCCGAGACC	CAPN12	ENSG00000182472.9	transcript	ENST00000328867.9	protein_coding	12/20			chr19	TogoVar
CAPN14_chr2_31168056_31222515	31181386	T T	TTCTCTTC others(20): Show TTCTCTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0009 a0017c0027t0009	a0017c0027t0009g0142 a0017c0027t0009g0142	1	326	0.0031	27	c.164 others(44): Show c.1646-387_1646-386insGAAAGAAAGAAAGAAAGAAAGAAGAGA	CAPN14	ENSG00000214711.10	transcript	ENST00000403897.4	protein_coding	16/21			chr2	TogoVar
CAPN6_chrX_111240099_111275483	111270389	C C	CCTGCTGC others(20): Show CCTGCTGCTGCTGCTGCTGCTGCTGCTG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02922.hp1 others(2): Show HG01109.hp1 HG02451.hp1 HG02922.hp1 HG02970.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0011 a0002c0003t0005g0038 a0002c0003t0005g0039 a0002c0003t0005g0011 a0002c0003t0005g0038 a0002c0003t0005g0039	5	242	0.0207	27	c.-61 others(34): Show c.-61_-35dupCAGCAGCAGCAGCAGCAGCAGCAGCAG	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	1/13	6454		chrX	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0170 a0001c0001t0020g0170	1	354	0.0028	27	c.40- others(42): Show c.40-7419_40-7393dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116904969	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG06807.hp2 HG02451.hp1 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0016 a0001c0002t0003 a0001c0002t0016	a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0016g0332 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0016g0332	3	354	0.0085	27	c.426 others(42): Show c.426+606_426+607insAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19416860	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	364	0.0028	27	c.93+ others(42): Show c.93+2774_93+2800dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	2/8			chr1	TogoVar
CARD11_chr7_2901142_3048867	3022935	A A	ATATTTAT others(20): Show ATATTTATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	322	0.0031	27	c.-12 others(48): Show c.-126+20731_-126+20732insATATATATATATATATATATATAA ATA	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	1/24			chr7	TogoVar
CARD8_chr19_48203086_48260912	48220952	G G	GAAAGGAA others(20): Show GAAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19086.hp1 NA18982.hp2 NA19086.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0004 a0002c0001t0001 a0002c0001t0004	a0002c0001t0001g0059 a0002c0001t0004g0306 a0002c0001t0001g0059 a0002c0001t0004g0306	2	362	0.0055	27	c.116 others(44): Show c.1161+777_1161+778insTTCCTTCCTTCCTTCCTTCCTTCCTTT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARD8_chr19_48203086_48260912	48220954	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0240 a0001c0004t0003g0240	1	362	0.0028	27	c.116 others(44): Show c.1161+775_1161+776insCCTTCCTTCCTTCCTTCCTTCCTTCCT	CARD8	ENSG00000105483.18	transcript	ENST00000651546.1	protein_coding	11/13			chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25390320	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0005 a0001c0012t0005	a0001c0012t0005g0156 a0001c0012t0005g0156	1	186	0.0054	27	c.139 others(46): Show c.139-29793_139-29792insATATATATATATATATATATTTTTTT T	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459267	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0114 a0001c0003t0002g0114	1	186	0.0054	27	c.615 others(44): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25583456	T T	TTATTATT others(20): Show TTATTATTCATGGTAATATGCTCAGTGC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01175.hp2 HG02083.hp2 others(4): Show HG00597.hp2 HG01175.hp2 HG02083.hp2 HG02738.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2	a0001 a0003 a0001 a0003	a0001c0012 a0001c0029 a0001c0032 others(1): Show a0001c0012 a0001c0029 a0001c0032 a0003c0010	a0001c0012t0005 a0001c0012t0006 a0001c0029t0006 others(2): Show a0001c0012t0005 a0001c0012t0006 a0001c0029t0006 a0001c0032t0011 a0003c0010t0003	a0001c0012t0005g0156 a0001c0012t0006g0118 a0001c0012t0006g0119 others(4): Show a0001c0012t0005g0156 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0029t0006g0129 a0001c0032t0011g0097 a0003c0010t0003g0132	7	186	0.0376	27	c.300 others(46): Show c.3006+2019_3006+2045dupATTATTCATGGTAATATGCTCAGTGC T	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	31/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNS1_chr11_67410678_67430604	67421519	G G	GCGTTAGC others(20): Show GCGTTAGCGCCAGAGTGGGGGCCTTGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0052 a0002c0006t0002g0052	1	346	0.0029	27	c.162 others(44): Show c.1626+301_1626+327dupCGTTAGCGCCAGAGTGGGGGCCTTGAA	CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
CARS2_chr13_110636417_110711116	110649931	C C	CTGTTTTT others(20): Show CTGTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0305 a0001c0003t0002g0305	1	372	0.0027	27	c.105 others(46): Show c.1054+1102_1054+1103insAAAAAAAAAAAAAAAAAAAAAAAAAC A	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	10/14			chr13	TogoVar
CARS2_chr13_110636417_110711116	110677564	C C	CCAGACAG others(20): Show CCAGACAGTCACCCCCACCATGGAAACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00738.hp2 others(61): Show HG00438.hp1 HG00597.hp1 HG00738.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG02015.hp1 HG02074.hp1 HG02148.hp2 HG02155.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp1 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18952.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18967.hp1 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19064.hp1 NA19065.hp2 NA19070.hp1 NA19078.hp1 NA19080.hp1 NA19087.hp1 NA19091.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0002c0004 others(3): Show a0001c0001 a0001c0003 a0002c0004 a0002c0008 a0004c0012 a0006c0015	a0001c0001t0002 a0001c0003t0002 a0002c0004t0001 others(6): Show a0001c0001t0002 a0001c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0008t0001 a0004c0012t0002 a0004c0012t0004 a0006c0015t0002	a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 others(60): Show a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0315 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0003t0002g0066 a0001c0003t0002g0304 a0001c0003t0002g0305 a0001c0003t0002g0309 a0001c0003t0002g0312 a0001c0003t0002g0314 a0001c0003t0002g0316 a0001c0003t0002g0319 a0001c0003t0002g0320 a0002c0004t0001g0007 a0002c0004t0001g0027 a0002c0004t0001g0028 a0002c0004t0001g0029 a0002c0004t0001g0030 a0002c0004t0001g0031 a0002c0004t0001g0032 a0002c0004t0001g0035 a0002c0004t0001g0036 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0039 a0002c0004t0001g0040 a0002c0004t0001g0041 a0002c0004t0001g0042 a0002c0004t0001g0044 a0002c0004t0001g0045 a0002c0004t0001g0046 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0002g0043 a0002c0004t0002g0058 a0002c0004t0002g0241 a0002c0004t0003g0239 a0002c0004t0003g0302 a0002c0008t0001g0033 a0002c0008t0001g0034 a0002c0008t0001g0236 a0002c0008t0001g0237 a0004c0012t0002g0263 a0004c0012t0002g0264 a0004c0012t0004g0262 a0006c0015t0002g0064 a0006c0015t0002g0065	64	372	0.1720	27	c.656 others(42): Show c.656-488_656-462dupTGTTTCCATGGTGGGGGTGACTGTCTG	CARS2	ENSG00000134905.17	transcript	ENST00000257347.9	protein_coding	6/14			chr13	TogoVar
CASP5_chr11_104989243_105028168	104997031	T T	TTTACCCC others(20): Show TTTACCCCTTTGTCATCAGGATGAAGCC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0115 a0003c0003t0001g0115	1	396	0.0025	27	c.120 others(44): Show c.1206+325_1206+351dupGGCTTCATCCTGATGACAAAGGGGTAA	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	8/9			chr11	TogoVar
CASR_chr3_122178668_122296629	122252399	G G	GAAAAAGA others(20): Show GAAAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1 HG00280.hp1 HG03834.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0009 a0004c0003t0004 a0001c0001t0009 a0004c0003t0004	a0001c0001t0009g0004 a0004c0003t0004g0154 a0001c0001t0009g0004 a0004c0003t0004g0154	3	314	0.0096	27	c.-24 others(46): Show c.-242-1547_-242-1546insAAAGAAAGAAAGAAAGAAAGAAAGAA A	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CATSPER4_chr1_26185602_26207964	26207777	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	398	0.0025	27	c.52 others(38): Show c.5235_*5236insAAGAAAGAAAGAAAGAAAGAAAGAAAG	CATSPER4	ENSG00000188782.9	transcript	ENST00000456354.7	protein_coding		4814		chr1	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0001 a0004c0044t0001	a0004c0044t0001g0211 a0004c0044t0001g0211	1	336	0.0030	27	c.142 others(46): Show c.1428-1156_1428-1155insATATATATATATATATATATTTTTTT T	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18954.hp1 NA18967.hp2 others(1): Show HG02040.hp1 NA18954.hp1 NA18967.hp2 NA19066.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0003 a0007c0010 a0002c0002 a0004c0003 a0007c0010	a0002c0002t0001 a0004c0003t0001 a0007c0010t0001 a0002c0002t0001 a0004c0003t0001 a0007c0010t0001	a0002c0002t0001g0205 a0002c0002t0001g0270 a0004c0003t0001g0313 others(1): Show a0002c0002t0001g0205 a0002c0002t0001g0270 a0004c0003t0001g0313 a0007c0010t0001g0029	4	336	0.0119	27	c.142 others(46): Show c.1428-1156_1428-1155insATATATATATATATATATTTTTTTTT T	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5762058	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	336	0.0030	27	c.142 others(46): Show c.1428-1156_1428-1155insATATATATATATATATTTTTTTTTTT T	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERD_chr19_5715637_5783734	5763847	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG00621.hp2 others(36): Show HG00280.hp1 HG00544.hp2 HG00621.hp2 HG01074.hp1 HG01081.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02040.hp1 HG02056.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02683.hp2 HG02698.hp2 HG02896.hp2 HG03130.hp2 HG03139.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18986.hp1 NA19078.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0012 a0013 a0014 a0017 a0028	a0001c0001 a0002c0002 a0002c0019 others(6): Show a0001c0001 a0002c0002 a0002c0019 a0004c0003 a0012c0015 a0013c0030 a0014c0017 a0017c0014 a0028c0029	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0019t0001 a0004c0003t0001 a0012c0015t0001 a0013c0030t0001 a0014c0017t0002 a0017c0014t0002 a0028c0029t0001	a0001c0001t0001g0045 a0001c0001t0001g0194 a0001c0001t0001g0195 others(36): Show a0001c0001t0001g0045 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0221 a0002c0002t0001g0043 a0002c0002t0001g0050 a0002c0002t0001g0056 a0002c0002t0001g0073 a0002c0002t0001g0085 a0002c0002t0001g0097 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0139 a0002c0002t0001g0176 a0002c0002t0001g0184 a0002c0002t0001g0193 a0002c0002t0001g0201 a0002c0002t0001g0215 a0002c0002t0001g0271 a0002c0002t0001g0278 a0002c0002t0001g0286 a0002c0002t0001g0305 a0002c0002t0003g0081 a0002c0002t0003g0138 a0002c0019t0001g0330 a0002c0019t0001g0332 a0004c0003t0001g0104 a0004c0003t0001g0117 a0004c0003t0001g0248 a0004c0003t0001g0274 a0004c0003t0001g0313 a0004c0003t0001g0320 a0004c0003t0001g0321 a0012c0015t0001g0125 a0013c0030t0001g0295 a0014c0017t0002g0223 a0017c0014t0002g0013 a0028c0029t0001g0264	39	336	0.1161	27	c.150 others(44): Show c.1506+572_1506+573insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CATSPERD	ENSG00000174898.16	transcript	ENST00000381624.4	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0009 a0002c0004t0002g0009	1	206	0.0049	27	c.264 others(46): Show c.2648+7747_2648+7748insATATATATATATATATTTTTTTTTTT T	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0002 a0004c0009t0002	a0004c0009t0002g0076 a0004c0009t0002g0076	1	206	0.0049	27	c.264 others(46): Show c.2648+7747_2648+7748insATATATATATATATTTTTTTTTTTTT T	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CATSPERE_chr1_244456273_244645504	244625432	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	206	0.0049	27	c.264 others(46): Show c.2648+7747_2648+7748insATATATATATTTTTTTTTTTTTTTTT T	CATSPERE	ENSG00000179397.18	transcript	ENST00000366534.9	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	342	0.0029	27	c.195 others(44): Show c.195+7707_195+7708insATATATATATATATATATATATATTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA19067.hp1 NA18993.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0294 a0001c0001t0003g0171 a0001c0001t0003g0294	2	342	0.0059	27	c.195 others(44): Show c.195+7707_195+7708insATATATATATATATATATTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02109.hp1 NA20752.hp1 HG00738.hp1 HG02109.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0213 a0001c0001t0002g0197 a0001c0001t0009g0062 a0001c0001t0001g0213 a0001c0001t0002g0197 a0001c0001t0009g0062	3	342	0.0088	27	c.195 others(44): Show c.195+7707_195+7708insATATATATATATATATTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116534395	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02965.hp1 HG04184.hp1 others(1): Show HG02165.hp1 HG02965.hp1 HG04184.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0200 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0200 a0001c0001t0002g0310	4	342	0.0117	27	c.195 others(44): Show c.195+7707_195+7708insATATATATATATATTTTTTTTTTTTTT	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555542	G G	GAGAGAGA others(20): Show GAGAGAGAGAGAGAGAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	342	0.0029	27	c.196 others(44): Show c.196-3401_196-3400insGAGAGAGAGAGAAGAAAGAAAGAAAGA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV2_chr7_116494738_116513541	116498923	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	27	c.-85 others(36): Show c.-859_-858insCACACACACACACACACACACACACAC	CAV2	ENSG00000105971.15	transcript	ENST00000222693.5	protein_coding		814		chr7	TogoVar
CAVIN1_chr17_42397449_42428256	42411192	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0212 a0001c0001t0006g0212	1	338	0.0030	27	c.472 others(44): Show c.472-5805_472-5804insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAVIN1	ENSG00000177469.13	transcript	ENST00000357037.6	protein_coding	1/1			chr17	TogoVar
CBFA2T2_chr20_33485096_33655030	33557004	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0015 a0001c0001t0015g0015	1	298	0.0034	27	c.35- others(44): Show c.35-49950_35-49924dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621192	T T	TTCAATTG others(20): Show TTCAATTGTTACTGTATTTTGAATTTTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	298	0.0034	27	c.510 others(44): Show c.510+1592_510+1618dupTGTTACTGTATTTTGAATTTTGTCAAT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T2_chr20_33485096_33655030	33621287	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18945.hp1 HG02523.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0258 a0001c0001t0001g0268	2	298	0.0067	27	c.510 others(44): Show c.510+1707_510+1708insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CBFA2T2	ENSG00000078699.22	transcript	ENST00000342704.11	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
CBFA2T3_chr16_88869858_88982207	88870675	C C	CGCCCTGC others(20): Show CGCCCTGCCTCTTCCCCGTCGTGCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01884.hp1 HG02451.hp1 others(4): Show HG01167.hp2 HG01884.hp1 HG02451.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021	a0001c0001t0001 a0001c0001t0033 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0001t0033 a0001c0002t0005 a0001c0002t0030 a0001c0003t0011 a0001c0021t0011	a0001c0001t0001g0084 a0001c0001t0033g0116 a0001c0002t0005g0005 others(4): Show a0001c0001t0001g0084 a0001c0001t0033g0116 a0001c0002t0005g0005 a0001c0002t0005g0217 a0001c0002t0030g0089 a0001c0003t0011g0007 a0001c0021t0011g0077	7	284	0.0247	27	c.63 others(38): Show c.6300_*6301insAGGAGCACGACGGGGAAGAGGCAGGGC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding		4182		chr16	TogoVar

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Search Results (Total: 7463 hits)