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
CALCR_chr7_93419486_93579724	93460560	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	292	0.0034	19	c.648 others(34): Show c.648+260_648+261insATATATATATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93532838	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	292	0.0034	19	c.-27 others(38): Show c.-27+41432_-27+41450dupTTTTTTTTTTTTTTTTTTT	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93578009	C C	CAAACTCC others(12): Show CAAACTCCACTTCAATTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(21): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG01106.hp1 HG01261.hp1 HG01884.hp1 HG02647.hp1 HG02738.hp2 HG02965.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 NA18943.hp1 NA18969.hp1 NA18979.hp1 NA18989.hp2 NA19000.hp1 NA19043.hp1 NA19084.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 others(7): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0001t0019 a0001c0005t0006 a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 a0002c0002t0014 a0002c0002t0020	a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0050 others(20): Show a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0050 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0008g0009 a0001c0001t0015g0008 a0001c0001t0015g0015 a0001c0001t0019g0010 a0001c0005t0006g0043 a0002c0002t0001g0056 a0002c0002t0007g0011 a0002c0002t0007g0012 a0002c0002t0007g0013 a0002c0002t0007g0017 a0002c0002t0007g0018 a0002c0002t0007g0019 a0002c0002t0008g0005 a0002c0002t0008g0006 a0002c0002t0008g0007 a0002c0002t0008g0016 a0002c0002t0014g0002 a0002c0002t0020g0014	24	292	0.0822	19	c.-35 others(30): Show c.-3563_-3562insCATAATTGAAGTGGAGTTT	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding		3286		chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	432	0.0023	19	c.34+ others(34): Show c.34+3022_34+3040dupTTTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp1 HG02965.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0386 a0001c0001t0001g0387 a0001c0001t0001g0386 a0001c0001t0001g0387	2	432	0.0046	19	c.34+ others(34): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM3_chr19_46596330_46615782	46611910	G G	GGGGATTG others(12): Show GGGGATTGGGGGGGATGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	19	c.27 others(30): Show c.2757_*2758insGGGATTGGGGGGGATGTGT	CALM3	ENSG00000160014.17	transcript	ENST00000291295.14	protein_coding		1129		chr19	TogoVar
CALN1_chr7_71774491_72417338	71971945	A A	AGAAAGAA others(12): Show AGAAAGAAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0033 a0001c0001t0005 a0001c0001t0033	a0001c0001t0005g0006 a0001c0001t0033g0115 a0001c0001t0005g0006 a0001c0001t0033g0115	2	142	0.0141	19	c.501 others(38): Show c.501+51711_501+51712insCTTTTCTTTCTTTTCTTTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03195.hp1 HG01109.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0019 a0001c0001t0022	a0001c0001t0019g0070 a0001c0001t0022g0001 a0001c0001t0019g0070 a0001c0001t0022g0001	2	142	0.0141	19	c.501 others(36): Show c.501+6640_501+6658dupTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(12): Show AAATATATACATACATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp1 HG02818.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0041 a0001c0001t0008g0067 a0001c0001t0001g0041 a0001c0001t0008g0067	2	142	0.0141	19	c.244 others(38): Show c.244+73134_244+73135insATATATGTATGTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72205551	A A	AAATATAT others(12): Show AAATATATACATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	142	0.0070	19	c.244 others(38): Show c.244+73134_244+73135insATATATATATGTATATATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	142	0.0070	19	c.244 others(36): Show c.244+7110_244+7111insATATATATATATATTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72299463	C C	CAGAGTTT others(12): Show CAGAGTTTACGTAAAACAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp1 others(135): Show HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18975.hp1 NA18975.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 others(135): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0003g0094 a0001c0001t0003g0123 a0001c0001t0004g0039 a0001c0001t0004g0066 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0100 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0006g0015 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0008g0027 a0001c0001t0008g0040 a0001c0001t0008g0067 a0001c0001t0009g0029 a0001c0001t0009g0031 a0001c0001t0009g0102 a0001c0001t0010g0104 a0001c0001t0010g0106 a0001c0001t0010g0114 a0001c0001t0012g0008 a0001c0001t0012g0011 a0001c0001t0013g0062 a0001c0001t0013g0117 a0001c0001t0014g0046 a0001c0001t0014g0054 a0001c0001t0015g0026 a0001c0001t0015g0042 a0001c0001t0016g0032 a0001c0001t0016g0081 a0001c0001t0017g0028 a0001c0001t0017g0035 a0001c0001t0018g0063 a0001c0001t0018g0126 a0001c0001t0019g0060 a0001c0001t0020g0077 a0001c0001t0020g0078 a0001c0001t0021g0055 a0001c0001t0021g0068 a0001c0001t0022g0001 a0001c0001t0023g0002 a0001c0001t0024g0016 a0001c0001t0025g0014 a0001c0001t0026g0009 a0001c0001t0027g0005 a0001c0001t0028g0013 a0001c0001t0029g0019 a0001c0001t0030g0020 a0001c0001t0031g0024 a0001c0001t0032g0076 a0001c0001t0033g0115 a0001c0001t0034g0088 a0001c0001t0035g0091 a0001c0001t0036g0112 a0001c0001t0037g0072 a0001c0001t0038g0025 a0001c0001t0039g0030 a0001c0001t0040g0122 a0001c0001t0041g0069 a0001c0001t0042g0052 a0001c0001t0043g0064 a0001c0001t0044g0083 a0001c0001t0045g0099 a0001c0001t0046g0127 a0001c0001t0047g0128 a0001c0001t0048g0129 a0001c0001t0049g0130 a0001c0001t0050g0131 a0001c0001t0051g0132 a0001c0001t0052g0133 a0001c0001t0053g0135 a0001c0001t0054g0136 a0001c0001t0055g0134 a0001c0001t0057g0138 a0001c0001t0058g0139 a0001c0001t0059g0140 a0001c0001t0060g0141 a0001c0001t0061g0142	138	142	0.9718	19	c.120 others(38): Show c.120-20654_120-20653insTTTGTTTTACGTAAACTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72311651	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0127 a0001c0001t0046g0127	1	142	0.0070	19	c.120 others(38): Show c.120-32860_120-32842dupAAAAAAAAAAAAAAAAAAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72396256	A A	AAAAAAAA others(12): Show AAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG02809.hp2 others(5): Show HG01255.hp1 HG02055.hp2 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03195.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0036 a0001c0001t0041 a0001c0001t0059	a0001c0001t0001g0041 a0001c0001t0002g0087 a0001c0001t0004g0039 others(5): Show a0001c0001t0001g0041 a0001c0001t0002g0087 a0001c0001t0004g0039 a0001c0001t0007g0023 a0001c0001t0019g0070 a0001c0001t0036g0112 a0001c0001t0041g0069 a0001c0001t0059g0140	8	142	0.0563	19	c.119 others(36): Show c.119+6994_119+6995insCTTTCTTTCTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01981.hp1 HG02080.hp1 others(2): Show HG01433.hp2 HG01981.hp1 HG02080.hp1 HG02280.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0199 others(2): Show a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0199 a0001c0001t0004g0087 a0001c0001t0005g0122	5	338	0.0148	19	c.844 others(34): Show c.844-213_844-195dupAAAAAAAAAAAAAAAAAAA	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(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01069.hp1 HG01109.hp2 others(4): Show HG00558.hp1 HG01069.hp1 HG01109.hp2 HG02258.hp2 HG03927.hp1 HG03927.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 others(4): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0037 a0001c0001t0082 a0001c0001t0096 a0001c0002t0045	a0001c0001t0003g0045 a0001c0001t0009g0213 a0001c0001t0019g0039 others(4): Show a0001c0001t0003g0045 a0001c0001t0009g0213 a0001c0001t0019g0039 a0001c0001t0037g0011 a0001c0001t0082g0067 a0001c0001t0096g0098 a0001c0002t0045g0118	7	214	0.0327	19	c.92+ others(36): Show c.92+77797_92+77815dupTTTTTTTTTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12541888	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0059 a0001c0001t0029g0059	1	214	0.0047	19	c.93- others(36): Show c.93-11336_93-11335insCCTTCCTTCCTTCCTTCCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12568221	G G	GCCCCTCC others(12): Show GCCCCTCCCTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0166 a0001c0002t0026g0166	1	214	0.0047	19	c.224 others(38): Show c.224+14879_224+14897dupTTCCTTCCCCTCCCTTCCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12611588	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18978.hp1 NA19030.hp1 others(1): Show HG03195.hp1 NA18978.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0075 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0001t0075 a0001c0002t0008 a0001c0002t0027	a0001c0001t0001g0191 a0001c0001t0075g0210 a0001c0002t0008g0108 others(1): Show a0001c0001t0001g0191 a0001c0001t0075g0210 a0001c0002t0008g0108 a0001c0002t0027g0036	4	214	0.0187	19	c.225 others(38): Show c.225-55145_225-55127dupTTTTTTTTTTTTTTTTTTT	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(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0136 a0001c0001t0029g0136	1	214	0.0047	19	c.225 others(38): Show c.225-46536_225-46518dupAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12698673	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0144 a0001c0001t0062g0144	1	214	0.0047	19	c.299 others(38): Show c.299+31881_299+31882insTTTTTTTTTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1G_chr1_209578714_209618939	209595417	T T	TCAAACAA others(12): Show TCAAACAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02258.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	2	446	0.0045	19	c.92+ others(32): Show c.92+346_92+347insCAAAACAAAACAAAACAAA	CAMK1G	ENSG00000008118.10	transcript	ENST00000361322.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMK1G_chr1_209578714_209618939	209595906	G G	GGGAGGCT others(12): Show GGGAGGCTGCAGACTCTGAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01123.hp1 HG01175.hp1 others(17): Show HG00408.hp1 HG01123.hp1 HG01175.hp1 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp1 NA18747.hp2 NA18940.hp1 NA18954.hp1 NA18980.hp2 NA18986.hp2 NA18995.hp1 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0053 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267	20	446	0.0448	19	c.92+ others(32): Show c.92+833_92+851dupGAGGCTGCAGACTCTGACG	CAMK1G	ENSG00000008118.10	transcript	ENST00000361322.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMK2B_chr7_44212154_44330594	44227159	A A	AGGTGCAG others(12): Show AGGTGCAGGGGACAGAGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 HG02922.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0002g0194 a0001c0001t0002g0209	2	242	0.0083	19	c.146 others(36): Show c.1469-534_1469-516dupCTCCTCTGTCCCCTGCACC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227203	A A	AGGGGACA others(12): Show AGGGGACAGAGGGGGATGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp1 HG01258.hp1 others(13): Show HG00140.hp2 HG01109.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0010 others(3): Show a0001c0001 a0001c0003 a0001c0010 a0002c0005 a0002c0009 a0002c0011	a0001c0001t0002 a0001c0001t0008 a0001c0003t0004 others(4): Show a0001c0001t0002 a0001c0001t0008 a0001c0003t0004 a0001c0010t0008 a0002c0005t0004 a0002c0009t0004 a0002c0011t0004	a0001c0001t0002g0017 a0001c0001t0002g0104 a0001c0001t0002g0107 others(13): Show a0001c0001t0002g0017 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0172 a0001c0001t0008g0123 a0001c0003t0004g0180 a0001c0010t0008g0033 a0001c0010t0008g0034 a0001c0010t0008g0218 a0002c0005t0004g0171 a0002c0009t0004g0070 a0002c0011t0004g0142	16	242	0.0661	19	c.146 others(36): Show c.1469-578_1469-560dupCACATCCCCCTCTGTCCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227384	G G	GTGGGGGA others(12): Show GTGGGGGACAGAGGAGGGTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG02647.hp1 others(5): Show HG00741.hp2 HG01243.hp1 HG02647.hp1 HG02922.hp2 HG03130.hp2 HG03471.hp2 HG03579.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0012 a0001c0004 a0001c0006 a0002c0012	a0001c0004t0004 a0001c0004t0011 a0001c0006t0007 others(2): Show a0001c0004t0004 a0001c0004t0011 a0001c0006t0007 a0002c0012t0006 a0002c0012t0013	a0001c0004t0004g0105 a0001c0004t0011g0001 a0001c0004t0011g0024 others(4): Show a0001c0004t0004g0105 a0001c0004t0011g0001 a0001c0004t0011g0024 a0001c0004t0011g0029 a0001c0006t0007g0175 a0002c0012t0006g0219 a0002c0012t0013g0023	8	242	0.0331	19	c.146 others(36): Show c.1469-741_1469-740insGACCCTCCTCTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227413	A A	AGAGGGGG others(12): Show AGAGGGGGTGTGGGGGACAG	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0069 a0001c0003t0003g0069	1	242	0.0041	19	c.146 others(36): Show c.1469-788_1469-770dupCTGTCCCCCACACCCCCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227502	G G	GAGGAGGG others(12): Show GAGGAGGGTGTGGGGGACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0089 a0001c0002t0006g0089	1	242	0.0041	19	c.146 others(36): Show c.1469-859_1469-858insGTGTCCCCCACACCCTCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227670	G G	GAGGGGGT others(12): Show GAGGGGGTGTGGGGGACAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp2 others(91): Show HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01943.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03491.hp2 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18966.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19056.hp2 NA19057.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0013 a0001c0015 a0001c0019 a0001c0020 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0024 a0001c0001t0026 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0003t0003 a0001c0003t0007 a0001c0003t0016 a0001c0004t0002 a0001c0004t0003 a0001c0004t0007 a0001c0006t0007 a0001c0007t0001 a0001c0007t0009 a0001c0008t0001 a0001c0013t0003 a0001c0015t0001 a0001c0019t0004 a0001c0020t0001 a0002c0005t0004	a0001c0001t0001g0062 a0001c0001t0001g0193 a0001c0001t0002g0194 others(90): Show a0001c0001t0001g0062 a0001c0001t0001g0193 a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0003g0065 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0184 a0001c0001t0003g0226 a0001c0001t0004g0063 a0001c0001t0004g0096 a0001c0001t0009g0234 a0001c0001t0010g0114 a0001c0001t0013g0225 a0001c0001t0024g0146 a0001c0001t0026g0230 a0001c0002t0001g0009 a0001c0002t0001g0043 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0101 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0161 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0181 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0208 a0001c0002t0001g0233 a0001c0002t0006g0003 a0001c0002t0006g0055 a0001c0002t0006g0134 a0001c0002t0006g0165 a0001c0002t0006g0178 a0001c0002t0008g0128 a0001c0002t0009g0191 a0001c0002t0012g0044 a0001c0002t0018g0082 a0001c0002t0019g0095 a0001c0002t0020g0074 a0001c0002t0021g0197 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0061 a0001c0003t0003g0069 a0001c0003t0003g0119 a0001c0003t0007g0039 a0001c0003t0007g0053 a0001c0003t0016g0059 a0001c0004t0002g0066 a0001c0004t0003g0010 a0001c0004t0003g0011 a0001c0004t0003g0013 a0001c0004t0003g0028 a0001c0004t0003g0075 a0001c0004t0003g0098 a0001c0004t0003g0102 a0001c0004t0003g0147 a0001c0004t0003g0150 a0001c0004t0003g0162 a0001c0004t0003g0173 a0001c0004t0003g0179 a0001c0004t0007g0100 a0001c0006t0007g0138 a0001c0006t0007g0152 a0001c0006t0007g0154 a0001c0006t0007g0166 a0001c0006t0007g0175 a0001c0007t0001g0051 a0001c0007t0009g0057 a0001c0008t0001g0041 a0001c0008t0001g0143 a0001c0008t0001g0202 a0001c0008t0001g0203 a0001c0013t0003g0141 a0001c0015t0001g0073 a0001c0015t0001g0215 a0001c0019t0004g0216 a0001c0020t0001g0235 a0002c0005t0004g0121 a0002c0005t0004g0227	94	242	0.3884	19	c.146 others(38): Show c.1469-1045_1469-1027dupTCTGTCCCCCACACCCCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227717	G G	GTGGGGGA others(12): Show GTGGGGGACAGAGGGGTATA	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18747.hp2 HG02148.hp1 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0012 a0001c0002t0001 a0001c0002t0012	a0001c0002t0001g0195 a0001c0002t0012g0229 a0001c0002t0001g0195 a0001c0002t0012g0229	2	242	0.0083	19	c.146 others(38): Show c.1468+1060_1469-1074dupTATACCCCTCTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227734	A A	ATATGGGG others(12): Show ATATGGGGGACAGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03239.hp2 HG01099.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0004 a0001c0001t0003 a0001c0004t0004	a0001c0001t0003g0217 a0001c0004t0004g0213 a0001c0001t0003g0217 a0001c0004t0004g0213	2	242	0.0083	19	c.146 others(38): Show c.1468+1043_1468+1061dupCCCTCCTCTGTCCCCCATA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227736	A A	ATGGGGGA others(12): Show ATGGGGGACACAGGAGGGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0128 a0001c0002t0008g0128	1	242	0.0041	19	c.146 others(38): Show c.1468+1059_1468+1060insCACCCTCCTGTGTCCCCCA	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227746	G G	GAGGAGGG others(12): Show GAGGAGGGTGTGGGGGACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG00738.hp1 others(23): Show HG00140.hp1 HG00673.hp2 HG00738.hp1 HG01071.hp2 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG01515.hp1 HG01943.hp1 HG01943.hp2 HG02129.hp1 HG02738.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18945.hp1 NA18990.hp1 NA19007.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0013 a0001c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0026 a0001c0002t0001 a0001c0002t0018 a0001c0003t0003 a0001c0003t0016 a0001c0004t0002 a0001c0004t0003 a0001c0008t0001 a0001c0013t0003 a0001c0015t0001	a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0003g0065 others(23): Show a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0003g0065 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0137 a0001c0001t0003g0184 a0001c0001t0009g0234 a0001c0001t0026g0230 a0001c0002t0001g0092 a0001c0002t0001g0127 a0001c0002t0001g0199 a0001c0002t0018g0082 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0061 a0001c0003t0016g0059 a0001c0004t0002g0066 a0001c0004t0003g0010 a0001c0004t0003g0028 a0001c0004t0003g0102 a0001c0004t0003g0150 a0001c0008t0001g0041 a0001c0013t0003g0140 a0001c0013t0003g0141 a0001c0015t0001g0073	26	242	0.1074	19	c.146 others(38): Show c.1468+1049_1468+1050insGTGTCCCCCACACCCTCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227785	G G	GAAGGGGG others(12): Show GAAGGGGGTGTGGGGGACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0029 a0001c0004t0011g0029	1	242	0.0041	19	c.146 others(38): Show c.1468+1010_1468+1011insGTGTCCCCCACACCCCCTT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44306774	A A	AGCAGGGG others(12): Show AGCAGGGGAGGAGGGTGTGG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02074.hp2 HG00673.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0003 a0001c0002t0001 a0001c0004t0003	a0001c0002t0001g0155 a0001c0004t0003g0150 a0001c0002t0001g0155 a0001c0004t0003g0150	2	242	0.0083	19	c.65+ others(36): Show c.65+18564_65+18582dupCCACACCCTCCTCCCCTGC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	1/23			chr7	TogoVar
CAMK2G_chr10_73807501_73879555	73820493	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	280	0.0036	19	c.125 others(36): Show c.1250-849_1250-848insTATATATATATATATATAT	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMKK1_chr17_3855315_3898053	3892092	G G	GTGTGCCC others(12): Show GTGTGCCCCTCCCACACTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02886.hp2 HG02895.hp1 others(1): Show HG02809.hp2 HG02886.hp2 HG02895.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0068 a0001c0003t0030 a0001c0003t0031 a0001c0002t0068 a0001c0003t0030 a0001c0003t0031	a0001c0002t0068g0425 a0001c0003t0030g0426 a0001c0003t0031g0427 others(1): Show a0001c0002t0068g0425 a0001c0003t0030g0426 a0001c0003t0031g0427 a0001c0003t0031g0428	4	446	0.0090	19	c.-44 others(34): Show c.-44+828_-44+846dupGGAGTGTGGGAGGGGCACA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	1/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44614936	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp2 HG03139.hp2 others(1): Show HG01109.hp2 HG02647.hp2 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0005g0009 a0001c0001t0005g0010 others(1): Show a0001c0001t0001g0019 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0012	4	198	0.0202	19	c.377 others(38): Show c.377-89341_377-89323dupTTTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44768361	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	198	0.0051	19	c.894 others(36): Show c.894+1801_894+1802insATATATATATATATATTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44768361	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	198	0.0051	19	c.894 others(36): Show c.894+1801_894+1802insATATATATATATATTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135847842	A A	AAGGGGAG others(12): Show AAGGGGAGGGGAGTGGGGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01106.hp2 HG01167.hp2 others(7): Show HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG02109.hp2 HG02630.hp2 HG02922.hp2 HG02970.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 others(7): Show a0001c0002t0004g0003 a0001c0002t0004g0004 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0002t0004g0008 a0001c0002t0004g0009 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0012	10	340	0.0294	19	c.104 others(38): Show c.1045+2276_1045+2294dupCCCCCCACTCCCCTCCCCT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01515.hp1 HG01517.hp2 others(10): Show HG00673.hp2 HG01515.hp1 HG01517.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp2 HG02886.hp1 HG03225.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0011 a0001c0001 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 others(2): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 a0001c0006t0001 a0001c0011t0006	a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 others(10): Show a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0014g0014 a0001c0001t0023g0116 a0001c0006t0001g0063 a0001c0011t0006g0117	13	340	0.0382	19	c.161 others(36): Show c.161-9789_161-9771dupTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP1_chr9_135803487_135912546	135905825	T T	TTTGCACC others(12): Show TTTGCACCTGTTCTTTGCAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	340	0.0029	19	c.160 others(36): Show c.160+1174_160+1175insGTGCAAAGAACAGGTGCAA	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200814131	C C	CGGGGGGA others(12): Show CGGGGGGAGGGGTGGGCGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01261.hp1 HG01981.hp1 others(8): Show HG01081.hp2 HG01261.hp1 HG01981.hp1 NA18612.hp1 NA18978.hp2 NA18991.hp2 NA19001.hp1 NA19043.hp2 NA19074.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0026 a0001c0002t0002 a0001c0001t0003 a0001c0001t0026 a0001c0002t0002	a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0072 others(8): Show a0001c0001t0003g0055 a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0003g0080 a0001c0001t0026g0081 a0001c0002t0002g0030 a0001c0002t0002g0101 a0001c0002t0002g0145 a0001c0002t0002g0158 a0001c0002t0002g0169 a0001c0002t0002g0190	11	366	0.0301	19	c.562 others(36): Show c.562-1429_562-1411dupGGGGGGAGGGGTGGGCGGG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200814138	A A	AGGGGTGG others(12): Show AGGGGTGGGCGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	366	0.0027	19	c.562 others(36): Show c.562-1411_562-1410insGGGGGAGGGGGTGGGCGGG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200814141	G G	GGTGGGCG others(12): Show GGTGGGCGGGGGGGGAGGGT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	366	0.0027	19	c.562 others(36): Show c.562-1411_562-1410insGGGGGAGGGTGTGGGCGGG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	6852986	T T	TAACTCAG others(12): Show TAACTCAGGAAAGTCCAAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01243.hp1 others(29): Show HG00558.hp2 HG00735.hp1 HG01243.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 NA18999.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0008	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0017 a0002c0004 a0005c0013 a0006c0007 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0003t0001 a0001c0003t0008 a0001c0003t0010 a0001c0010t0004 a0001c0017t0026 a0002c0004t0011 a0002c0004t0018 a0005c0013t0009 a0006c0007t0014 a0008c0011t0016	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(29): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0012g0019 a0001c0001t0013g0056 a0001c0001t0015g0037 a0001c0001t0021g0014 a0001c0002t0001g0020 a0001c0002t0003g0006 a0001c0002t0003g0025 a0001c0002t0004g0030 a0001c0002t0006g0008 a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0008g0032 a0001c0003t0010g0035 a0001c0010t0004g0031 a0001c0017t0026g0027 a0002c0004t0011g0005 a0002c0004t0018g0015 a0005c0013t0009g0033 a0006c0007t0014g0018 a0008c0011t0016g0029	32	58	0.5517	19	c.234 others(38): Show c.234+27776_234+27777insAACTCAGGAAAGTCCAAGA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22			chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7310600	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0038	1	58	0.0172	19	c.438 others(38): Show c.438+60976_438+60977insCTTTCTTTCTTTCTTTCTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND2_chr3_12791680_12839803	12812221	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0003 a0008c0008t0003	a0008c0008t0003g0026 a0008c0008t0003g0026	1	378	0.0027	19	c.758 others(34): Show c.758-768_758-750dupTTTTTTTTTTTTTTTTTTT	CAND2	ENSG00000144712.13	transcript	ENST00000456430.6	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
CANX_chr5_179693967_179736641	179710707	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00642.hp1 others(46): Show HG00323.hp1 HG00438.hp2 HG00642.hp1 HG00738.hp1 HG01099.hp2 HG01258.hp2 HG01928.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02071.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02738.hp1 HG02896.hp1 HG03209.hp1 HG03490.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18960.hp2 NA18961.hp1 NA18982.hp1 NA18986.hp1 NA18999.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0031 a0001c0001t0033 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(35): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0003g0082 a0001c0001t0004g0005 a0001c0001t0004g0118 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0132 a0001c0001t0004g0163 a0001c0001t0004g0168 a0001c0001t0004g0170 a0001c0001t0005g0100 a0001c0001t0006g0009 a0001c0001t0006g0021 a0001c0001t0006g0189 a0001c0001t0006g0207 a0001c0001t0014g0180 a0001c0001t0031g0188 a0001c0001t0033g0007 a0004c0004t0001g0214	49	380	0.1290	19	c.721 others(34): Show c.721+658_721+659insAAAAAAAAAAAAAAAAAAA	CANX	ENSG00000127022.16	transcript	ENST00000247461.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)