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
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	430	0.0023	38	c.545 others(53): Show c.545-745_545-744insAAAAAAAAAAAATATATATATATATATATA TATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0033 a0001c0002t0002g0033	1	430	0.0023	38	c.545 others(53): Show c.545-745_545-744insAAAAAAAAAATATATATATATATATATATA TATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG6_chr19_53986637_54017666	54011205	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0396 a0001c0001t0007g0396	1	430	0.0023	38	c.545 others(53): Show c.545-745_545-744insAAAATATATATATATATATATATATATATA TATATATA	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115284087	A A	ACTCTCTC others(31): Show ACTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02300.hp2 HG02818.hp2 others(6): Show HG01952.hp2 HG02300.hp2 HG02818.hp2 HG02886.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp1 NA19003.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0024 a0001c0001t0040 a0001c0001t0045	a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0001t0003g0046 others(6): Show a0001c0001t0003g0014 a0001c0001t0003g0022 a0001c0001t0003g0046 a0001c0001t0004g0127 a0001c0001t0012g0070 a0001c0001t0017g0121 a0001c0001t0024g0122 a0001c0001t0040g0068 a0001c0001t0045g0019	9	164	0.0549	38	c.125 others(57): Show c.125-43668_125-43667insAGAGAGAGAGAGAGGGAGAGAGAGAG AGAGAGAGAGAG	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115308211	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0025 a0001c0001t0007g0025	1	164	0.0061	38	c.125 others(57): Show c.125-67792_125-67791insGTATGTGTATATATATATATATATAT ATATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115308211	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0074 a0001c0002t0022g0074	1	164	0.0061	38	c.125 others(57): Show c.125-67792_125-67791insGTATATATATATATATATATATATAT ATATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85199370	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	146	0.0069	38	c.61+ others(57): Show c.61+239703_61+239704insTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAGAGAGAG	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0005 a0001c0002t0051g0005	1	146	0.0069	38	c.62- others(57): Show c.62-294650_62-294649insATATATATATATATATATATATATAT ATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85431860	C C	CATATGTA others(31): Show CATATGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03834.hp2 NA18982.hp2 HG03710.hp2 HG03834.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0028 a0001c0001t0003 a0001c0001t0005 a0001c0001t0028	a0001c0001t0003g0085 a0001c0001t0005g0083 a0001c0001t0028g0122 a0001c0001t0003g0085 a0001c0001t0005g0083 a0001c0001t0028g0122	3	146	0.0206	38	c.62- others(57): Show c.62-294658_62-294657insGTATATATATATATATATATATATAT ATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85541773	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02015.hp1 HG00621.hp2 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0010 a0001c0001t0018	a0001c0001t0010g0067 a0001c0001t0018g0039 a0001c0001t0010g0067 a0001c0001t0018g0039	2	146	0.0137	38	c.62- others(57): Show c.62-184748_62-184747insATATATATATATATATATATATATAT ATATATATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM4_chr19_43617368_43644850	43635650	A A	AACTCAGG others(31): Show AACTCAGGAGTCTAAGATCCCAGGCCCCTCCTCCCTCAG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG03239.hp2 HG01515.hp2 HG03239.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0004 a0004c0005t0004 a0001c0001t0004 a0004c0005t0004	a0001c0001t0004g0166 a0004c0005t0004g0167 a0001c0001t0004g0166 a0004c0005t0004g0167	2	424	0.0047	38	c.64+ others(53): Show c.64+4039_64+4076dupCTGAGGGAGGAGGGGCCTGGGATCTTAGAC TCCTGAGT	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding	1/8			chr19	TogoVar
CADM4_chr19_43617368_43644850	43635705	T T	TCCCAGGC others(31): Show TCCCAGGCCCCTCCTCCCTCAGACTCAGGAGTCTAAGAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	424	0.0024	38	c.64+ others(53): Show c.64+3984_64+4021dupGTCTTAGACTCCTGAGTCTGAGGGAGGAGG GGCCTGGG	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding	1/8			chr19	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	328	0.0031	38	c.912 others(55): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATATTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp1 NA19011.hp2 HG01099.hp1 HG02300.hp1 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0155 a0002c0002t0001g0169 a0002c0002t0001g0193 a0002c0002t0001g0155 a0002c0002t0001g0169 a0002c0002t0001g0193	3	328	0.0092	38	c.912 others(55): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATATTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18951.hp1 HG00609.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0223 a0002c0002t0001g0201 a0002c0002t0001g0223	2	328	0.0061	38	c.912 others(55): Show c.912+1385_912+1386insATATATATATATATATATATATATATAT ATTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48854396	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0230	1	328	0.0031	38	c.912 others(55): Show c.912+1385_912+1386insATATATATATATATATATATATATATTT TTTTTTTTTT	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCR_chr7_93419486_93579724	93460585	A A	ATATATAT others(31): Show ATATATATATATATATACGTATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0004 a0001c0001t0018g0004	1	292	0.0034	38	c.648 others(53): Show c.648+235_648+236insCGTATATATATATATATATACGTATATATA TATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	8/13			chr7	TogoVar
CALCR_chr7_93419486_93579724	93554769	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18968.hp2 NA18973.hp2 others(1): Show HG02965.hp2 NA18968.hp2 NA18973.hp2 NA19000.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0002g0132 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0002g0132 a0002c0002t0001g0143	4	292	0.0137	38	c.-27 others(57): Show c.-27+19519_-27+19520insTATATATATATATATATATATATATA TATATATATATA	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	1	452	0.0022	38	c.-38 others(49): Show c.-3863_-3862insTATATATATATATATATATATATATATATATATA TATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18956.hp2 NA19000.hp1 HG02165.hp2 NA18956.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0001t0001g0000 a0001c0002t0002g0000	3	452	0.0066	38	c.-38 others(49): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATA TATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18984.hp1 HG02165.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	2	452	0.0044	38	c.-38 others(49): Show c.-3847_-3846insTATATATATATATATATATATATATATATATATG TATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA19012.hp2 NA18939.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	2	452	0.0044	38	c.-38 others(49): Show c.-3845_-3844insTATATATATATATATATATATATATATATATATA TATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALN1_chr7_71774491_72417338	72054438	T T	TATATATA others(31): Show TATATATACATATATACATATATATACATATATACATAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0128 a0001c0001t0047g0128	1	142	0.0070	38	c.389 others(57): Show c.389-30670_389-30669insGTATGTATATATGTATATATATGTAT ATATGTATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72054492	C C	CATATATA others(31): Show CATATATACATATATATACATATATATACATATATACAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0069 a0001c0001t0041g0069	1	142	0.0070	38	c.389 others(57): Show c.389-30761_389-30724dupATGTATATATGTATATATATGTATAT ATATGTATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081417	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0017 a0001c0001t0006g0017	1	142	0.0070	38	c.388 others(57): Show c.388+24733_388+24734insGACACACACACACACACACACACACA CACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0030 a0001c0001t0039g0030	1	142	0.0070	38	c.244 others(55): Show c.244+7110_244+7111insATATATATATATATATTTTTTTTTTTTT TTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	142	0.0070	38	c.244 others(55): Show c.244+7110_244+7111insATATATATATATATATATATATTTTTTT TTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0013 a0001c0001t0028g0013	1	142	0.0070	38	c.244 others(55): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	142	0.0070	38	c.244 others(55): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	142	0.0070	38	c.244 others(55): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0115 a0001c0001t0033g0115	1	142	0.0070	38	c.244 others(55): Show c.244+7110_244+7111insATATATATATATATATATATATATATAT ATATATATAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	142	0.0070	38	c.120 others(57): Show c.120-59716_120-59715insGACAGACAGACACACACACACACACA CACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12401110	A A	ATATATAA others(31): Show ATATATAATATATATATTATATATATTATATATATATTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0096 a0001c0001t0081g0096	1	214	0.0047	38	c.92+ others(55): Show c.92+51206_92+51207insATATATATATTATATATATTATATATAT ATTTTATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12547682	T T	TCTCTCTC others(31): Show TCTCTCTCTCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0030 a0001c0001t0091g0030	1	214	0.0047	38	c.93- others(53): Show c.93-5542_93-5541insTCTCTCTCACACACACACACACACACACAC ACACACAC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227129	A A	AGGACAGA others(31): Show AGGACAGAGGGGGATGTGGGGGACAGAGAGAGGTGCAGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0119 a0001c0003t0003g0119	1	242	0.0041	38	c.146 others(55): Show c.1469-523_1469-486dupCCTGCACCTCTCTCTGTCCCCCACATCC CCCTCTGTCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227159	A A	AGGTGCAG others(31): Show AGGTGCAGGGGACAGAGGAGGGTGCAGGGGACAGAGGAG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	242	0.0041	38	c.146 others(55): Show c.1469-553_1469-516dupCTCCTCTGTCCCCTGCACCCTCCTCTGT CCCCTGCACC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227178	G G	GGATGTGG others(31): Show GGATGTGGGGGACAGAGGGGGATGTGGGGGACAGAGAGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	242	0.0041	38	c.146 others(55): Show c.1469-535_1469-534insTCTCTCTGTCCCCCACATCCCCCTCTGT CCCCCACATC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227203	A A	AGGGGACA others(31): Show AGGGGACAGAGGAGGGTGCAGGGGACAGAGGGGGATGTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG02027.hp2 HG01070.hp2 HG01081.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0008 a0001c0001t0005 a0001c0004t0008	a0001c0001t0005g0005 a0001c0004t0008g0149 a0001c0001t0005g0005 a0001c0004t0008g0149	3	242	0.0124	38	c.146 others(55): Show c.1469-560_1469-559insCACATCCCCCTCTGTCCCCTGCACCCTC CTCTGTCCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227670	G G	GAGGGGGT others(31): Show GAGGGGGTGTGGGGGACAGAAGGGGGTGTGGGGGACAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 NA19067.hp1 HG00741.hp1 HG01106.hp2 NA19067.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0008 a0004c0018 a0001c0002 a0001c0008 a0004c0018	a0001c0002t0006 a0001c0008t0001 a0004c0018t0001 a0001c0002t0006 a0001c0008t0001 a0004c0018t0001	a0001c0002t0006g0115 a0001c0008t0001g0012 a0004c0018t0001g0160 a0001c0002t0006g0115 a0001c0008t0001g0012 a0004c0018t0001g0160	3	242	0.0124	38	c.146 others(57): Show c.1469-1027_1469-1026insTCTGTCCCCCACACCCCCTTCTGTCC CCCACACCCCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227671	A A	AGGGGGTG others(31): Show AGGGGGTGTGGGGGACAGAAGGGGGTGTGGGGGACAGAG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0002 a0001c0003t0007g0228 a0001c0003t0007g0002 a0001c0003t0007g0228	3	242	0.0124	38	c.146 others(57): Show c.1469-1028_1469-1027insCTCTGTCCCCCACACCCCCTTCTGTC CCCCACACCCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227746	G G	GAGGAGGG others(31): Show GAGGAGGGTGTGGGGGACACAGGAGGGTGTGGGGGACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0114 a0001c0001t0010g0114	1	242	0.0041	38	c.146 others(57): Show c.1468+1049_1468+1050insGTGTCCCCCACACCCTCCTGTGTCCC CCACACCCTCCT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(31): Show GATATATACATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA20300.hp2 HG03540.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0034 a0001c0001t0029 a0001c0001t0034	a0001c0001t0029g0185 a0001c0001t0034g0002 a0001c0001t0029g0185 a0001c0001t0034g0002	2	278	0.0072	38	c.161 others(57): Show c.161-47975_161-47974insATATATATATATATATATATATATAT ATATGTATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0243 a0001c0001t0008g0243	1	278	0.0036	38	c.161 others(57): Show c.161-47975_161-47974insATATATATATATATATATATATATAT ATATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK4_chr5_111219384_111499886	111432664	A A	ATATATAT others(31): Show ATATATATATATACATATATATGTGTATATATGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0094 a0001c0004t0094	a0001c0004t0094g0222 a0001c0004t0094g0222	1	246	0.0041	38	c.460 others(57): Show c.460-14010_460-14009insCATATATATGTGTATATATGTGTGTG TATATATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3868052	C C	CGGGGGAG others(31): Show CGGGGGAGATGCAGGCACCGTCTAACTGATACGTGGGCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0019 a0001c0002t0020g0019	1	446	0.0022	38	c.134 others(57): Show c.1341+1434_1341+1435insTGCCCACGTATCAGTTAGACGGTGCC TGCATCTCCCCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868093	T T	TGGGGGAG others(31): Show TGGGGGAGACGCAGGCCCGTCTAACTGATACGTGGGCAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0388 a0001c0002t0016g0388	1	446	0.0022	38	c.134 others(57): Show c.1341+1393_1341+1394insGTGCCCACGTATCAGTTAGACGGGCC TGCGTCTCCCCC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868188	C C	CCCGTCTA others(31): Show CCCGTCTAACTGATACGCGGGATCTGGGGGAGACGCAGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0031 a0001c0003t0031	a0001c0003t0031g0428 a0001c0003t0031g0428	1	446	0.0022	38	c.134 others(57): Show c.1341+1298_1341+1299insCCTGCGTCTCCCCCAGATCCCGCGTA TCAGTTAGACGG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868228	C C	CCCGTCTA others(31): Show CCCGTCTAACTGATACGCGGGATCTGGGGGAGACGCAGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp2 others(15): Show HG00558.hp1 HG00621.hp2 HG00639.hp2 HG02015.hp1 HG02015.hp2 HG02148.hp1 HG03831.hp1 HG04199.hp1 NA18954.hp2 NA18960.hp2 NA18962.hp1 NA18983.hp2 NA18998.hp2 NA19004.hp1 NA19011.hp2 NA19068.hp1 NA19087.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0008t0004 a0001c0008t0028	a0001c0002t0002g0060 a0001c0002t0003g0332 a0001c0002t0003g0341 others(15): Show a0001c0002t0002g0060 a0001c0002t0003g0332 a0001c0002t0003g0341 a0001c0002t0007g0065 a0001c0002t0007g0093 a0001c0002t0007g0099 a0001c0002t0007g0123 a0001c0002t0007g0124 a0001c0002t0007g0125 a0001c0002t0007g0169 a0001c0002t0009g0321 a0001c0002t0009g0374 a0001c0002t0009g0375 a0001c0002t0010g0218 a0001c0002t0010g0260 a0001c0002t0010g0277 a0001c0008t0004g0035 a0001c0008t0028g0405	18	446	0.0404	38	c.134 others(57): Show c.1341+1258_1341+1259insCCTGCGTCTCCCCCAGATCCCGCGTA TCAGTTAGACGG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(31): Show ATATATATAAAATTATATATATAATTATATATATATAAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG02280.hp1 others(2): Show HG01168.hp1 HG01169.hp2 HG02280.hp1 HG02559.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0009 a0002c0002t0001 a0002c0002t0009 a0001c0007t0009 a0002c0002t0001 a0002c0002t0009	a0001c0007t0009g0007 a0002c0002t0001g0041 a0002c0002t0001g0042 others(2): Show a0001c0007t0009g0007 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0009g0132 a0002c0002t0009g0316	5	330	0.0152	38	c.907 others(53): Show c.907+327_907+328insATTATATATATATAATTATATATATAATTT TATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(31): Show GTATATATATATAGTCTATAGACTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02145.hp2 HG02486.hp2 others(3): Show HG01975.hp1 HG02145.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0048 a0001c0001t0001g0091 a0001c0001t0001g0096 others(3): Show a0001c0001t0001g0048 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0003g0092 a0001c0001t0007g0101	6	198	0.0303	38	c.376 others(57): Show c.376+19938_376+19939insGTCTATAGACTATATATATATATATA TATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar

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