Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALM2_chr2_47155084_47181511	47167814	C C	CCTTTTTT others(15): Show CCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	432	0.0023	22	c.34+ others(37): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAG	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47167814	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp1 NA19030.hp1 HG01081.hp1 HG01884.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0079	3	432	0.0069	22	c.34+ others(37): Show c.34+2919_34+2920insAAAAAAAAAAAAAAAAAAAAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47175915	A A	AGGACGCG others(15): Show AGGACGCGGGCTAACTGCGACGC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0001g0384 a0001c0001t0001g0385	2	432	0.0046	22	c.3+5 others(33): Show c.3+504_3+525dupGCGTCGCAGTTAGCCCGCGTCC	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	1/5			chr2	TogoVar
CALM2_chr2_47155084_47181511	47179622	T T	TTTTATTT others(15): Show TTTTATTTTATTATTATTATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	432	0.0023	22	c.-31 others(33): Show c.-3180_-3179insGTGATAATAATAATAAAATAAA	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding		3112		chr2	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01167.hp1 HG01169.hp1 others(12): Show HG00280.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01952.hp2 HG02738.hp1 HG02738.hp2 HG03225.hp1 HG03486.hp1 HG03516.hp2 HG03942.hp1 HG06807.hp2 NA18944.hp1 NA18982.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0002t0002	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 a0001c0001t0020g0000 a0001c0002t0002g0000	15	452	0.0332	22	c.-38 others(33): Show c.-3863_-3862insTATATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521223	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA18940.hp2 NA19007.hp1 others(3): Show HG04184.hp1 NA18940.hp2 NA19007.hp1 NA19058.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0000 a0001c0002t0002g0000 a0001c0002t0001g0000 a0001c0002t0002g0000	6	452	0.0133	22	c.-38 others(33): Show c.-3863_-3862insTGTATATATATATATATATATA	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3737		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521239	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18983.hp2 NA18969.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	452	0.0044	22	c.-38 others(33): Show c.-3847_-3846insTATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3721		chr10	TogoVar
CALML3_chr10_5519961_5531771	5521241	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 NA19087.hp2 HG03490.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0000 a0001c0002t0003g0000 a0001c0001t0001g0000 a0001c0002t0003g0000	2	452	0.0044	22	c.-38 others(33): Show c.-3845_-3844insTATATATATATATATATATATG	CALML3	ENSG00000178363.5	transcript	ENST00000315238.3	protein_coding		3719		chr10	TogoVar
CALML4_chr15_68185705_68210332	68193959	A A	AAAAATTA others(15): Show AAAAATTAATTGCTCCAAGTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0066 a0001c0001t0018g0066	1	386	0.0026	22	c.34 others(29): Show c.34_*55dupAAAACTTGGAGCAATTAATTTT	CALML4	ENSG00000129007.16	transcript	ENST00000467889.3	protein_coding	5/5	55		chr15	TogoVar
CALN1_chr7_71774491_72417338	71907239	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19240.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0039 a0001c0001t0032 a0001c0001t0039	a0001c0001t0032g0076 a0001c0001t0039g0030 a0001c0001t0032g0076 a0001c0001t0039g0030	2	142	0.0141	22	c.502 others(41): Show c.502-96769_502-96748dupGTGTGTGTGTGTGTGTGTGTGT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71971945	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0068 a0001c0001t0021g0068	1	142	0.0070	22	c.501 others(41): Show c.501+51711_501+51712insCTTTCTTTCTTTCTTTCTTTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71971953	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03225.hp1 HG01361.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0107 a0001c0001t0015g0042 a0001c0001t0001g0107 a0001c0001t0015g0042	2	142	0.0141	22	c.501 others(41): Show c.501+51703_501+51704insCTTTCTTTCTTTCTTTCTTTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72016998	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18948.hp1 HG02523.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0046 a0001c0001t0045 a0001c0001t0046	a0001c0001t0045g0099 a0001c0001t0046g0127 a0001c0001t0045g0099 a0001c0001t0046g0127	2	142	0.0141	22	c.501 others(39): Show c.501+6658_501+6659insTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72081417	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0142 a0001c0001t0061g0142	1	142	0.0070	22	c.388 others(41): Show c.388+24733_388+24734insGACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	4/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0133 a0001c0001t0052g0133	1	142	0.0070	22	c.244 others(39): Show c.244+7110_244+7111insATATATATATATATATATTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72271575	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0011 a0001c0001t0012g0011	1	142	0.0070	22	c.244 others(39): Show c.244+7110_244+7111insATATATATATATATATATATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338470	A A	AGAGTGTG others(15): Show AGAGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	142	0.0070	22	c.120 others(41): Show c.120-59661_120-59660insACACACACACACACACACACTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338470	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19043.hp2 HG02300.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0032 a0001c0001t0001 a0001c0001t0032	a0001c0001t0001g0038 a0001c0001t0032g0076 a0001c0001t0001g0038 a0001c0001t0032g0076	2	142	0.0141	22	c.120 others(41): Show c.120-59682_120-59661dupACACACACACACACACACACAC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(15): Show GTGTGTGTGTCTGTCTGTCTGTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0128 a0001c0001t0047g0128	1	142	0.0070	22	c.120 others(41): Show c.120-59716_120-59715insGACAGACAGACAGACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTCTGTCTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0069 a0001c0001t0041g0069	1	142	0.0070	22	c.120 others(41): Show c.120-59716_120-59715insGACAGACAGACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTCTGTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG02132.hp2 others(2): Show HG01081.hp2 HG01433.hp1 HG02132.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0054 a0001c0001t0055	a0001c0001t0001g0043 a0001c0001t0003g0094 a0001c0001t0006g0015 others(2): Show a0001c0001t0001g0043 a0001c0001t0003g0094 a0001c0001t0006g0015 a0001c0001t0054g0136 a0001c0001t0055g0134	5	142	0.0352	22	c.120 others(41): Show c.120-59716_120-59715insGACAGACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72338525	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTGTGTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp1 HG03098.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0006 a0001c0001t0015g0042 a0001c0001t0005g0006 a0001c0001t0015g0042	2	142	0.0141	22	c.120 others(41): Show c.120-59716_120-59715insGACACACACACACACACACACA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72396256	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG03654.hp1 others(1): Show HG01258.hp2 HG01346.hp2 HG03654.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 others(1): Show a0001c0001t0001g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0065	4	142	0.0282	22	c.119 others(39): Show c.119+6994_119+6995insCTTTCTTTCTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72396256	A A	AAAAAAAA others(15): Show AAAAAAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	142	0.0070	22	c.119 others(39): Show c.119+6994_119+6995insCTTTCTTTCTTTCTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128768847	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA19001.hp2 NA19010.hp2 NA18997.hp1 NA19001.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0218 a0001c0001t0002g0027 a0001c0001t0002g0218	3	338	0.0089	22	c.844 others(37): Show c.844-195_844-194insAAAAAAAAAAAAAAAAAAAAAA	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(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0200 a0001c0001t0017g0200	1	214	0.0047	22	c.92+ others(39): Show c.92+77794_92+77815dupTTTTTTTTTTTTTTTTTTTTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12520967	G G	GGGGAGGG others(15): Show GGGGAGGGGGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0162 a0001c0001t0103g0162	1	214	0.0047	22	c.93- others(39): Show c.93-32253_93-32252insGGGGAGGGAGAGGGAGAGGGAG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12662651	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03490.hp2 HG00735.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0034 a0001c0001t0002 a0001c0001t0034	a0001c0001t0002g0172 a0001c0001t0034g0083 a0001c0001t0002g0172 a0001c0001t0034g0083	2	214	0.0094	22	c.225 others(39): Show c.225-4072_225-4071insAAAAAAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113526414	A A	ATATGTGT others(15): Show ATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp2 HG02451.hp2 others(3): Show HG02145.hp2 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG03516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0150 others(3): Show a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0160 a0001c0001t0004g0161	6	278	0.0216	22	c.601 others(39): Show c.601+4801_601+4802insCACACACACACACACACACATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	8/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113603773	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0010 a0001c0001t0040g0010	1	278	0.0036	22	c.275 others(39): Show c.275+5357_275+5378dupTATATATATATATATATATATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	4/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709745	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0005 a0001c0001t0038g0005	1	278	0.0036	22	c.161 others(41): Show c.161-47974_161-47973insTATATATATATATATATATATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(15): Show GATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0148 a0001c0001t0060g0148	1	278	0.0036	22	c.161 others(41): Show c.161-47975_161-47974insATATATATATATATGTATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2D_chr4_113446032_113766738	113709746	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01257.hp1 HG01496.hp2 others(15): Show HG00408.hp2 HG01257.hp1 HG01496.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02723.hp2 HG02735.hp1 HG03516.hp1 NA18942.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA19009.hp2 NA19012.hp2 NA19043.hp1 NA19074.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0028 a0001c0001t0046 a0001c0001t0063 a0001c0001t0074	a0001c0001t0001g0040 a0001c0001t0002g0191 a0001c0001t0002g0206 others(15): Show a0001c0001t0001g0040 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0002g0242 a0001c0001t0002g0253 a0001c0001t0002g0267 a0001c0001t0004g0163 a0001c0001t0004g0181 a0001c0001t0005g0158 a0001c0001t0006g0222 a0001c0001t0006g0241 a0001c0001t0007g0039 a0001c0001t0007g0046 a0001c0001t0011g0124 a0001c0001t0028g0091 a0001c0001t0046g0072 a0001c0001t0063g0188 a0001c0001t0074g0248	18	278	0.0648	22	c.161 others(41): Show c.161-47996_161-47975dupATATATATATATATATATATAT	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2G_chr10_73807501_73879555	73820464	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	280	0.0036	22	c.125 others(39): Show c.1250-841_1250-820dupTATATATATATATATATATATA	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	18/22			chr10	TogoVar
CAMK2G_chr10_73807501_73879555	73829700	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	280	0.0036	22	c.105 others(41): Show c.1054-1601_1054-1580dupACACACACACACACACACACAC	CAMK2G	ENSG00000148660.22	transcript	ENST00000423381.6	protein_coding	14/22			chr10	TogoVar
CAMK4_chr5_111219384_111499886	111406194	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	246	0.0041	22	c.459 others(41): Show c.459+11421_459+11442dupTCTCTCTCTCTCTCTCTCTCTC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111459686	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0169	a0001c0001t0169g0173 a0001c0001t0169g0173	1	246	0.0041	22	c.625 others(41): Show c.625+10488_625+10509dupTTTTTTTTTTTTTTTTTTTTTT	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111480249	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01109.hp1 HG02723.hp1 others(4): Show HG00558.hp1 HG01109.hp1 HG02723.hp1 HG02922.hp1 HG03516.hp1 NA18977.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0098 a0001c0001t0104 a0001c0001t0144 a0001c0001t0156	a0001c0001t0007g0243 a0001c0001t0011g0168 a0001c0001t0012g0225 others(4): Show a0001c0001t0007g0243 a0001c0001t0011g0168 a0001c0001t0012g0225 a0001c0001t0098g0142 a0001c0001t0104g0002 a0001c0001t0144g0021 a0001c0001t0156g0208	7	246	0.0285	22	c.828 others(39): Show c.828+1761_828+1782dupACACACACACACACACACACAC	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAA others(15): Show ATATATAATTATATATATAATTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp1 HG01069.hp1 others(12): Show HG00099.hp2 HG00733.hp1 HG01069.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01981.hp1 HG02080.hp2 HG02148.hp2 HG03471.hp1 HG04199.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0017 a0002c0002 a0001c0001 a0001c0017 a0002c0002	a0001c0001t0001 a0001c0017t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0017t0005 a0002c0002t0001 a0002c0002t0012	a0001c0001t0001g0066 a0001c0001t0001g0098 a0001c0001t0001g0201 others(12): Show a0001c0001t0001g0066 a0001c0001t0001g0098 a0001c0001t0001g0201 a0001c0001t0001g0304 a0001c0017t0005g0043 a0002c0002t0001g0097 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0215 a0002c0002t0001g0320 a0002c0002t0001g0322 a0002c0002t0012g0106 a0002c0002t0012g0122 a0002c0002t0012g0305	15	330	0.0455	22	c.907 others(37): Show c.907+205_907+206insAAATTATATATATAATTATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121268083	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02818.hp1 HG02895.hp2 others(2): Show HG01099.hp2 HG02818.hp1 HG02895.hp2 HG03098.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0011 a0002c0002 a0001c0001 a0001c0011 a0002c0002	a0001c0001t0003 a0001c0011t0010 a0002c0002t0001 others(1): Show a0001c0001t0003 a0001c0011t0010 a0002c0002t0001 a0002c0002t0002	a0001c0001t0003g0011 a0001c0011t0010g0087 a0002c0002t0001g0008 others(2): Show a0001c0001t0003g0011 a0001c0011t0010g0087 a0002c0002t0001g0008 a0002c0002t0001g0262 a0002c0002t0002g0261	5	330	0.0152	22	c.625 others(37): Show c.625+554_625+555insATATATATATATATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	5/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44410231	G G	GTATATAT others(15): Show GTATATATATATAGTCTATAGGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19030.hp1 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	198	0.0101	22	c.376 others(41): Show c.376+19938_376+19939insGTCTATAGGCTATATATATATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44497709	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	198	0.0051	22	c.376 others(43): Show c.376+107417_376+107438dupAGAGAGAGAGAGAGAGAGAGAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44621266	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	198	0.0051	22	c.377 others(41): Show c.377-82998_377-82997insAAAAAAAAAAAAAAAAAAAAAA	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(15): Show ATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp2 HG02486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0042 a0001c0001t0002g0021 a0001c0001t0002g0042	2	198	0.0101	22	c.894 others(39): Show c.894+1801_894+1802insATATATATATATATATTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP1_chr9_135803487_135912546	135892848	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01516.hp2 HG02897.hp1 others(1): Show HG01358.hp2 HG01516.hp2 HG02897.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0017 a0001c0001 a0001c0002 a0007c0017	a0001c0001t0001 a0001c0002t0003 a0007c0017t0024 a0001c0001t0001 a0001c0002t0003 a0007c0017t0024	a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0002t0003g0287 others(1): Show a0001c0001t0001g0075 a0001c0001t0001g0123 a0001c0002t0003g0287 a0007c0017t0024g0122	4	340	0.0118	22	c.161 others(39): Show c.161-9771_161-9770insTTTTTTTTTTTTTTTTTTTTTT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	1/16			chr9	TogoVar
CAMSAP2_chr1_200733893_200865704	200816810	A A	ATGTGTGT others(15): Show ATGTGTGTATACGCACACGCGTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp1 HG03831.hp2 HG01109.hp2 HG02615.hp1 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0191 a0003c0004t0008g0192 a0003c0004t0008g0193 a0003c0004t0008g0191 a0003c0004t0008g0192 a0003c0004t0008g0193	3	366	0.0082	22	c.645 others(39): Show c.645+1167_645+1168insGTGTGTATACGCACACGCGTGT	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP2_chr1_200733893_200865704	200816873	C C	CACACACG others(15): Show CACACACGCGTGTGTATGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	366	0.0027	22	c.645 others(39): Show c.645+1235_645+1236insGCGTGTGTATGTGTGTACACAC	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7605147	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG01109.hp2 others(12): Show HG00323.hp1 HG00609.hp2 HG01109.hp2 HG01175.hp1 HG01361.hp1 HG01943.hp1 HG01993.hp1 HG02300.hp2 HG02602.hp2 HG02647.hp2 NA18973.hp2 NA19057.hp1 NA19060.hp2 NA19067.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(12): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0286 a0001c0001t0002g0244 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0002t0001g0196 a0001c0003t0001g0303	15	358	0.0419	22	c.149 others(35): Show c.149-70_149-49dupGTGTGTGTGTGTGTGTGTGTGT	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6995295	C C	CTTTTCTT others(15): Show CTTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0039 a0001c0009t0019g0039	1	58	0.0172	22	c.235 others(41): Show c.235-96005_235-96004insCTTTTTTTTTTTTTTTTTTTTT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7221906	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02280.hp1 HG01884.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0012 a0001c0001t0013	a0001c0001t0012g0019 a0001c0001t0013g0056 a0001c0001t0012g0019 a0001c0001t0013g0056	2	58	0.0345	22	c.303 others(41): Show c.303-27564_303-27563insCACACACACACACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar

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