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.

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
CADPS_chr3_62393348_62880416	62428296	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02970.hp1 HG02976.hp2 others(3): Show HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0088 a0001c0001t0001g0147 a0001c0002t0001g0036	6	160	0.0375	-17	c.377 others(36): Show c.3777+9791_3777+9807delAAAAAAAAAAAAAAAAA	CADPS	ENSG00000163618.18	transcript	ENST00000383710.9	protein_coding	28/29			chr3	TogoVar
CAGE1_chr6_7321659_7394742	7333659	TATATATA others(10): Show TATATATATATATATACA	T T	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19077.hp2 NA19062.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0263 a0001c0001t0002g0246 a0001c0001t0002g0263	2	360	0.0056	-17	c.243 others(34): Show c.2438+346_2438+362delTGTATATATATATATAT	CAGE1	ENSG00000164304.16	transcript	ENST00000502583.6	protein_coding	12/13			chr6	TogoVar
CALB2_chr16_71353723_71395433	71380292	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02148.hp1 HG01255.hp2 HG02055.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0048 a0002c0002t0002g0245 a0002c0002t0002g0247	3	426	0.0070	-17	c.343 others(34): Show c.343-2408_343-2392delTTTTTTTTTTTTTTTTT	CALB2	ENSG00000172137.19	transcript	ENST00000302628.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALCOCO2_chr17_48826035_48870245	48842899	AAATTAAA others(10): Show AAATTAAATGCTTTTTAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp2 HG03139.hp1 others(3): Show HG01891.hp1 HG02809.hp2 HG03139.hp1 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0007 a0003c0003t0001 a0003c0003t0007	a0003c0003t0001g0132 a0003c0003t0001g0139 a0003c0003t0001g0140 others(3): Show a0003c0003t0001g0132 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0316 a0003c0003t0007g0142	6	328	0.0183	-17	c.180 others(34): Show c.180+1014_180+1030delATTAAATGCTTTTTACA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALCOCO2_chr17_48826035_48870245	48858029	GAATAGAA others(10): Show GAATAGAATAGAATAGAA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01515.hp2 HG01517.hp2 others(10): Show HG00673.hp1 HG01515.hp2 HG01517.hp2 HG02109.hp2 HG02145.hp2 HG02293.hp2 HG02622.hp1 HG02976.hp1 HG03225.hp1 HG03704.hp1 HG03927.hp1 NA18960.hp1 NA18981.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0005 a0004c0004t0012 others(2): Show a0004c0004t0003 a0004c0004t0005 a0004c0004t0012 a0004c0004t0016 a0004c0004t0019	a0004c0004t0003g0076 a0004c0004t0003g0077 a0004c0004t0003g0082 others(10): Show a0004c0004t0003g0076 a0004c0004t0003g0077 a0004c0004t0003g0082 a0004c0004t0003g0088 a0004c0004t0003g0118 a0004c0004t0003g0119 a0004c0004t0003g0120 a0004c0004t0005g0105 a0004c0004t0005g0106 a0004c0004t0005g0110 a0004c0004t0012g0074 a0004c0004t0016g0091 a0004c0004t0019g0100	13	328	0.0396	-17	c.100 others(36): Show c.1008+1860_1008+1876delAATAGAATAGAATAGAA	CALCOCO2	ENSG00000136436.15	transcript	ENST00000258947.8	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
CALD1_chr7_134774634_134975729	134805694	GAAAATGG others(10): Show GAAAATGGGCCAGTTATC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01081.hp2 others(16): Show HG00642.hp2 HG00733.hp2 HG01081.hp2 HG01361.hp2 HG02145.hp2 HG02258.hp1 HG02922.hp2 HG02970.hp1 HG03471.hp2 HG03490.hp2 HG04204.hp2 NA18522.hp2 NA18954.hp1 NA18983.hp1 NA18994.hp1 NA19005.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0019 a0002c0003t0001 a0003c0005t0002 a0003c0005t0016	a0001c0001t0001g0022 a0001c0001t0002g0038 a0001c0001t0003g0002 others(15): Show a0001c0001t0001g0022 a0001c0001t0002g0038 a0001c0001t0003g0002 a0001c0001t0003g0090 a0001c0001t0003g0169 a0002c0002t0001g0039 a0002c0002t0001g0167 a0002c0002t0003g0006 a0002c0002t0003g0036 a0002c0002t0003g0221 a0002c0002t0003g0250 a0002c0002t0004g0049 a0002c0002t0004g0168 a0002c0002t0004g0260 a0002c0002t0019g0048 a0002c0003t0001g0037 a0003c0005t0002g0222 a0003c0005t0016g0220	19	262	0.0725	-17	c.-13 others(38): Show c.-130+25946_-130+25962delAAAATGGGCCAGTTATC	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	1/14			chr7	TogoVar
CALD1_chr7_134774634_134975729	134857158	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp1 HG03540.hp2 others(2): Show HG02258.hp2 HG02922.hp1 HG03540.hp2 NA18906.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008	a0002c0002t0001g0032 a0002c0002t0004g0128 a0002c0002t0004g0130 others(2): Show a0002c0002t0001g0032 a0002c0002t0004g0128 a0002c0002t0004g0130 a0002c0002t0004g0161 a0002c0002t0008g0160	5	262	0.0191	-17	c.-41 others(36): Show c.-41-10524_-41-10508delTTTTTTTTTTTTTTTTT	CALD1	ENSG00000122786.20	transcript	ENST00000361675.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CALM2_chr2_47155084_47181511	47167693	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	432	0.0023	-17	c.34+ others(32): Show c.34+3024_34+3040delTTTTTTTTTTTTTTTTT	CALM2	ENSG00000143933.20	transcript	ENST00000272298.12	protein_coding	2/5			chr2	TogoVar
CALN1_chr7_71774491_72417338	71902253	CAACCAAC others(10): Show CAACCAACCAACCAATCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0135 a0001c0001t0053g0135	1	142	0.0070	-17	c.502 others(36): Show c.502-91778_502-91762delTGATTGGTTGGTTGGTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71960166	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18942.hp2 NA18961.hp2 HG03225.hp2 NA18942.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0038 a0001c0001t0053 a0001c0001t0031 a0001c0001t0038 a0001c0001t0053	a0001c0001t0031g0024 a0001c0001t0038g0025 a0001c0001t0053g0135 a0001c0001t0031g0024 a0001c0001t0038g0025 a0001c0001t0053g0135	3	142	0.0211	-17	c.501 others(36): Show c.501+63474_501+63490delTATTTATTTATTTATTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71971948	AAAAAAAA others(10): Show AAAAAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0127 a0001c0001t0046g0127	1	142	0.0070	-17	c.501 others(36): Show c.501+51692_501+51708delCTTTCTTTCTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72108642	ACTCCTGC others(10): Show ACTCCTGCCTTTCCCTAC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0025 a0001c0001t0038g0025	1	142	0.0070	-17	c.245 others(34): Show c.245-2365_245-2349delGTAGGGAAAGGCAGGAG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72118685	GATGAGAT others(10): Show GATGAGATTTAAATATGT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00438.hp2 others(44): Show HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp2 HG02015.hp2 HG02055.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02300.hp1 HG02622.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18948.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18975.hp1 NA18990.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0042 a0001c0001t0045 a0001c0001t0051	a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 others(44): Show a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0002g0048 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0113 a0001c0001t0003g0094 a0001c0001t0003g0123 a0001c0001t0004g0071 a0001c0001t0004g0100 a0001c0001t0006g0018 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0009g0029 a0001c0001t0009g0102 a0001c0001t0012g0008 a0001c0001t0016g0032 a0001c0001t0017g0028 a0001c0001t0018g0126 a0001c0001t0020g0077 a0001c0001t0020g0078 a0001c0001t0025g0014 a0001c0001t0026g0009 a0001c0001t0028g0013 a0001c0001t0031g0024 a0001c0001t0035g0091 a0001c0001t0037g0072 a0001c0001t0038g0025 a0001c0001t0040g0122 a0001c0001t0042g0052 a0001c0001t0045g0099 a0001c0001t0051g0132	47	142	0.3310	-17	c.245 others(36): Show c.245-12408_245-12392delACATATTTAAATCTCAT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72247227	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	142	0.0070	-17	c.244 others(36): Show c.244+31442_244+31458delAAAAAAAAAAAAAAAAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72308371	GGGAGAGA others(10): Show GGGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0129 a0001c0001t0048g0129	1	142	0.0070	-17	c.120 others(36): Show c.120-29578_120-29562delTCTCTCTCTCTCTCTCC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CALU_chr7_128734359_128778400	128772058	TTTTTGTT others(10): Show TTTTTGTTTTTTTTTTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(47): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01943.hp1 HG01981.hp2 HG02074.hp2 HG02080.hp2 HG02257.hp2 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG04184.hp1 HG04228.hp1 NA18941.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18995.hp2 NA19072.hp1 NA19090.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0025 a0001c0001t0026 a0001c0001t0044 a0001c0001t0045	a0001c0001t0003g0008 a0001c0001t0003g0098 a0001c0001t0003g0186 others(41): Show a0001c0001t0003g0008 a0001c0001t0003g0098 a0001c0001t0003g0186 a0001c0001t0003g0225 a0001c0001t0003g0250 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0088 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0009g0014 a0001c0001t0009g0016 a0001c0001t0009g0077 a0001c0001t0009g0078 a0001c0001t0009g0086 a0001c0001t0009g0093 a0001c0001t0009g0100 a0001c0001t0025g0015 a0001c0001t0026g0097 a0001c0001t0026g0187 a0001c0001t0044g0079 a0001c0001t0045g0099	50	338	0.1479	-17	c.29 others(28): Show c.2901_*2917delTTTTTTTGTTTTGTTTT	CALU	ENSG00000128595.17	transcript	ENST00000249364.9	protein_coding	7/7	2901	INFO_REALIGN_3_PRIME	chr7	TogoVar
CALY_chr10_133319072_133341896	133334353	AGGGGGGA others(10): Show AGGGGGGAAGGCTCTGAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02809.hp2 others(16): Show HG02280.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG03540.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0033 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0003g0161	19	250	0.0760	-17	c.-21 others(34): Show c.-21+2464_-21+2480delCTCAGAGCCTTCCCCCC	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12722446	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0036 a0001c0002t0027g0036	1	214	0.0047	-17	c.300 others(36): Show c.300-38489_300-38473delAAAAAAAAAAAAAAAAA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12740963	AGGCAATT others(10): Show AGGCAATTTCAGATAATT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18990.hp1 NA18999.hp2 others(1): Show NA18974.hp2 NA18990.hp1 NA18999.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0015 a0001c0002t0021 others(1): Show a0001c0001t0001 a0001c0002t0015 a0001c0002t0021 a0001c0002t0067	a0001c0001t0001g0051 a0001c0002t0015g0148 a0001c0002t0021g0048 others(1): Show a0001c0001t0001g0051 a0001c0002t0015g0148 a0001c0002t0021g0048 a0001c0002t0067g0053	4	214	0.0187	-17	c.300 others(36): Show c.300-19982_300-19966delCAATTTCAGATAATTGG	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827461	TTTGTCTG others(10): Show TTTGTCTGTCTGTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01099.hp1 HG01168.hp2 others(9): Show HG00735.hp2 HG01099.hp1 HG01168.hp2 HG02040.hp1 HG02132.hp2 HG03491.hp2 HG03669.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18955.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0036 a0001c0001t0037 a0001c0001t0081 a0001c0001t0100	a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0095 others(9): Show a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0002g0003 a0001c0001t0002g0172 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0018g0013 a0001c0001t0036g0125 a0001c0001t0037g0011 a0001c0001t0081g0096 a0001c0001t0100g0135	12	214	0.0561	-17	c.104 others(36): Show c.1040-1305_1040-1289delGTCTGTCTGTCTTTCTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1_chr3_9752347_9774947	9761341	TGGAAGGA others(10): Show TGGAAGGAAGGGAGGGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	426	0.0024	-17	c.632 others(32): Show c.632+103_632+119delCTCCCTCCCTTCCTTCC	CAMK1	ENSG00000134072.11	transcript	ENST00000256460.8	protein_coding	7/11			chr3	TogoVar
CAMK2A_chr5_150214491_150294773	150219628	TAAAAAAG others(10): Show TAAAAAAGAAAAGAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp1 others(39): Show HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp1 HG02602.hp2 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18950.hp1 NA18959.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18983.hp1 NA18990.hp2 NA18999.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19066.hp1 NA19074.hp2 NA19083.hp2 NA19085.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 others(16): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0001t0029 a0001c0001t0039 a0001c0001t0058 a0001c0001t0063 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0082 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0028 a0001c0002t0029 a0001c0002t0054 a0001c0002t0062 a0001c0004t0005	a0001c0001t0005g0118 a0001c0001t0006g0085 a0001c0001t0021g0096 others(38): Show a0001c0001t0005g0118 a0001c0001t0006g0085 a0001c0001t0021g0096 a0001c0001t0021g0153 a0001c0001t0021g0215 a0001c0001t0029g0042 a0001c0001t0039g0043 a0001c0001t0039g0205 a0001c0001t0058g0092 a0001c0001t0063g0198 a0001c0001t0075g0186 a0001c0001t0076g0157 a0001c0001t0078g0206 a0001c0001t0082g0068 a0001c0002t0005g0007 a0001c0002t0005g0083 a0001c0002t0005g0146 a0001c0002t0005g0165 a0001c0002t0005g0166 a0001c0002t0005g0167 a0001c0002t0006g0052 a0001c0002t0006g0089 a0001c0002t0006g0100 a0001c0002t0006g0161 a0001c0002t0006g0203 a0001c0002t0006g0251 a0001c0002t0006g0253 a0001c0002t0008g0136 a0001c0002t0008g0176 a0001c0002t0008g0202 a0001c0002t0008g0226 a0001c0002t0008g0230 a0001c0002t0008g0263 a0001c0002t0008g0279 a0001c0002t0028g0112 a0001c0002t0028g0229 a0001c0002t0029g0199 a0001c0002t0054g0121 a0001c0002t0062g0063 a0001c0004t0005g0099 a0001c0004t0005g0104	42	338	0.1243	-17	c.30 others(28): Show c.3065_*3081delTTTTTCTTTTCTTTTTT	CAMK2A	ENSG00000070808.17	transcript	ENST00000671881.1	protein_coding	19/19	3065		chr5	TogoVar
CAMK2B_chr7_44212154_44330594	44224253	ACCCCAGC others(10): Show ACCCCAGCTCAACCCAGC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp1 HG01169.hp1 others(8): Show HG01123.hp1 HG01168.hp1 HG01169.hp1 NA18942.hp1 NA18977.hp2 NA18983.hp1 NA19002.hp1 NA19057.hp2 NA19081.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 a0001c0003 a0001c0004 a0001c0006	a0001c0003t0007 a0001c0004t0007 a0001c0006t0007 a0001c0003t0007 a0001c0004t0007 a0001c0006t0007	a0001c0003t0007g0002 a0001c0003t0007g0039 a0001c0003t0007g0053 others(7): Show a0001c0003t0007g0002 a0001c0003t0007g0039 a0001c0003t0007g0053 a0001c0003t0007g0228 a0001c0004t0007g0100 a0001c0006t0007g0138 a0001c0006t0007g0152 a0001c0006t0007g0154 a0001c0006t0007g0166 a0001c0006t0007g0175	11	242	0.0455	-17	c.159 others(36): Show c.1597+2246_1597+2262delGCTGGGTTGAGCTGGGG	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	20/23			chr7	TogoVar
CAMK2B_chr7_44212154_44330594	44227232	GGGGAAGT others(10): Show GGGGAAGTGGAAGACAGA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0182 a0002c0005t0004g0182	1	242	0.0041	-17	c.146 others(34): Show c.1469-605_1469-589delTCTGTCTTCCACTTCCC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMK4_chr5_111219384_111499886	111287851	AATGAAAT others(10): Show AATGAAATATTGTTAAGC	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp2 HG03654.hp1 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0129 a0001c0002t0026 a0001c0002t0129	a0001c0002t0026g0125 a0001c0002t0129g0095 a0001c0002t0026g0125 a0001c0002t0129g0095	2	246	0.0081	-17	c.162 others(36): Show c.162-56171_162-56155delTGAAATATTGTTAAGCA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3871333	GTTTTTTT others(10): Show GTTTTTTTTTTTTTGTTT	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0368 a0001c0003t0003g0368	1	446	0.0022	-17	c.112 others(36): Show c.1124+1204_1124+1220delAAACAAAAAAAAAAAAA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	12/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44445645	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18993.hp1 HG03195.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0134 a0001c0001t0003g0013 a0001c0001t0001g0134 a0001c0001t0003g0013	2	198	0.0101	-17	c.376 others(36): Show c.376+55372_376+55388delTTTTTTTTTTTTTTTTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44507728	TAGAGTAG others(10): Show TAGAGTAGTGCTACTCAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	198	0.0051	-17	c.376 others(38): Show c.376+117426_376+117442delAGTAGTGCTACTCAAAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAND1_chr12_67264358_67324953	67282343	GTTGAGTT others(10): Show GTTGAGTTAAAGGCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp1 HG01261.hp1 others(26): Show HG01069.hp2 HG01109.hp1 HG01261.hp1 HG01361.hp1 HG01891.hp1 HG01993.hp2 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 others(9): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0045	a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 others(21): Show a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0064 a0001c0001t0007g0090 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0096 a0001c0001t0012g0005 a0001c0001t0012g0060 a0001c0001t0018g0023 a0001c0001t0018g0098 a0001c0001t0023g0091 a0001c0001t0023g0097 a0001c0001t0028g0065 a0001c0001t0028g0066 a0001c0001t0035g0005 a0001c0001t0036g0063 a0001c0001t0037g0005 a0001c0001t0038g0005 a0001c0001t0039g0005 a0001c0001t0044g0067 a0001c0001t0045g0039	29	328	0.0884	-17	c.212 others(32): Show c.212+293_212+309delGAGTTAAAGGCCTACTT	CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
CANT1_chr17_78986716_79014764	79005098	GAGGGGGG others(10): Show GAGGGGGGTTAGGGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 HG02717.hp2 others(10): Show HG02109.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0002t0002 a0002c0004t0001 a0001c0001t0004 a0001c0002t0002 a0002c0004t0001	a0001c0001t0004g0006 a0001c0001t0004g0194 a0001c0001t0004g0243 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0194 a0001c0001t0004g0243 a0001c0002t0002g0043 a0002c0004t0001g0190 a0002c0004t0001g0191	13	394	0.0330	-17	c.-14 others(36): Show c.-147+4549_-147+4565delTTCTCCCTAACCCCCCT	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CANT1_chr17_78986716_79014764	79005129	AGGGGATT others(10): Show AGGGGATTTAGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02559.hp1 NA18906.hp2 others(1): Show HG02132.hp1 HG02559.hp1 NA18906.hp2 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010	a0001c0003t0002g0095 a0001c0003t0006g0258 a0001c0003t0006g0259 others(1): Show a0001c0003t0002g0095 a0001c0003t0006g0258 a0001c0003t0006g0259 a0001c0003t0010g0096	4	394	0.0102	-17	c.-14 others(36): Show c.-147+4518_-147+4534delCCCCTCCCTAAATCCCC	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CAP2_chr6_17388595_17562780	17461992	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02145.hp2 HG02622.hp1 others(6): Show HG01496.hp2 HG02145.hp2 HG02622.hp1 HG02717.hp2 HG02818.hp1 HG02976.hp2 HG03139.hp1 NA18522.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0005c0015	a0001c0001t0001 a0001c0003t0001 a0002c0004t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0002 a0005c0015t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0065 others(6): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0003t0001g0065 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0091 a0002c0004t0002g0077 a0002c0004t0002g0079 a0005c0015t0001g0070	9	206	0.0437	-17	c.223 others(32): Show c.223-989_223-973delAAAAAAAAAAAAAAAAA	CAP2	ENSG00000112186.13	transcript	ENST00000229922.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN13_chr2_30717771_30812446	30759067	CCTCCTCC others(10): Show CCTCCTCCCTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	384	0.0026	-17	c.775 others(32): Show c.775-947_775-931delAGGAAGGGAGGGAGGAG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN15_chr16_522712_559636	550700	GGTCGGTG others(10): Show GGTCGGTGAGGGTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG00735.hp1 HG01167.hp1	a0001 a0005 a0001 a0005	a0001c0004 a0005c0015 a0001c0004 a0005c0015	a0001c0004t0001 a0005c0015t0001 a0001c0004t0001 a0005c0015t0001	a0001c0004t0001g0018 a0005c0015t0001g0019 a0001c0004t0001g0018 a0005c0015t0001g0019	2	410	0.0049	-17	c.206 others(34): Show c.2067-585_2067-569delTGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551088	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0024 a0011c0027t0024	a0011c0027t0024g0273 a0011c0027t0024g0273	1	410	0.0024	-17	c.206 others(34): Show c.2067-197_2067-181delTCCCCGGTCGGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551142	GGTCGGTG others(10): Show GGTCGGTGAGGGCGCCCC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18947.hp1 NA18962.hp2 others(5): Show NA18945.hp2 NA18947.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0019 a0001c0004t0001 a0001c0004t0003 a0001c0002t0019 a0001c0004t0001 a0001c0004t0003	a0001c0002t0019g0397 a0001c0004t0001g0217 a0001c0004t0003g0042 others(5): Show a0001c0002t0019g0397 a0001c0004t0001g0217 a0001c0004t0003g0042 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0004t0003g0381	8	410	0.0195	-17	c.206 others(34): Show c.2067-148_2067-132delCGCCCCGTCGGTGAGGG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551186	GCCCCGGT others(10): Show GCCCCGGTCGGTGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	410	0.0024	-17	c.206 others(33): Show c.2067-111_2067-95delGGTCGGTGAGGGTCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	551220	TCCCGGTC others(10): Show TCCCGGTCAGTGAGGGTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01433.hp1 HG02145.hp2 others(15): Show HG00140.hp2 HG01433.hp1 HG02145.hp2 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG03139.hp2 HG03540.hp2 NA18947.hp2 NA18955.hp1 NA18975.hp1 NA19003.hp1 NA19030.hp1 NA19043.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp1 NA20129.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0014 a0017 a0021	a0001c0005 a0001c0006 a0002c0010 others(7): Show a0001c0005 a0001c0006 a0002c0010 a0002c0011 a0002c0039 a0002c0040 a0007c0020 a0014c0041 a0017c0038 a0021c0065	a0001c0005t0002 a0001c0006t0001 a0002c0010t0001 others(9): Show a0001c0005t0002 a0001c0006t0001 a0002c0010t0001 a0002c0011t0001 a0002c0011t0006 a0002c0011t0017 a0002c0039t0001 a0002c0040t0001 a0007c0020t0006 a0014c0041t0004 a0017c0038t0001 a0021c0065t0002	a0001c0005t0002g0026 a0001c0006t0001g0037 a0002c0010t0001g0022 others(15): Show a0001c0005t0002g0026 a0001c0006t0001g0037 a0002c0010t0001g0022 a0002c0010t0001g0032 a0002c0010t0001g0033 a0002c0010t0001g0034 a0002c0010t0001g0338 a0002c0011t0001g0038 a0002c0011t0006g0139 a0002c0011t0006g0201 a0002c0011t0017g0200 a0002c0039t0001g0031 a0002c0040t0001g0360 a0007c0020t0006g0147 a0007c0020t0006g0148 a0014c0041t0004g0385 a0017c0038t0001g0035 a0021c0065t0002g0095	18	410	0.0439	-17	c.206 others(32): Show c.2067-74_2067-58delAGTGAGGGTCCCCGGTC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN2_chr1_223707539_223781018	223718999	GACAGACT others(10): Show GACAGACTGTGAGGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG01993.hp2 others(14): Show HG01109.hp1 HG01261.hp2 HG01993.hp2 HG02258.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18961.hp1 NA18999.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0005 a0007 others(1): Show a0001 a0005 a0007 a0015	a0001c0002 a0001c0003 a0001c0010 others(4): Show a0001c0002 a0001c0003 a0001c0010 a0001c0020 a0005c0009 a0007c0017 a0015c0041	a0001c0002t0001 a0001c0003t0002 a0001c0010t0003 others(5): Show a0001c0002t0001 a0001c0003t0002 a0001c0010t0003 a0001c0020t0001 a0005c0009t0001 a0005c0009t0003 a0007c0017t0007 a0015c0041t0001	a0001c0002t0001g0019 a0001c0002t0001g0323 a0001c0002t0001g0324 others(14): Show a0001c0002t0001g0019 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0330 a0001c0002t0001g0349 a0001c0003t0002g0332 a0001c0010t0003g0325 a0001c0010t0003g0326 a0001c0010t0003g0327 a0001c0010t0003g0328 a0001c0010t0003g0329 a0001c0020t0001g0297 a0005c0009t0001g0018 a0005c0009t0003g0322 a0005c0009t0003g0331 a0007c0017t0007g0348 a0015c0041t0001g0347	17	378	0.0450	-17	c.307 others(34): Show c.307+1172_307+1188delGACTGTGAGGAAGAACA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN2_chr1_223707539_223781018	223741423	ATATATAT others(10): Show ATATATATATATAATGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0001 a0015c0041t0001	a0015c0041t0001g0347 a0015c0041t0001g0347	1	378	0.0027	-17	c.308 others(34): Show c.308-2664_308-2648delATGTGTATATATATATA	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN7_chr3_15201246_15257916	15251861	AAGATGCT others(10): Show AAGATGCTCATGCCTAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	376	0.0027	-17	c.60 others(26): Show c.603_*619delGATGCTCATGCCTAAGA	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	21/21	603	INFO_REALIGN_3_PRIME	chr3	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(10): Show CAAAGAAAGAAAGAAAGA	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0243 a0005c0008t0001g0243	1	394	0.0025	-17	c.214 others(34): Show c.214-3749_214-3733delAGAAAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751594	AAAGAAAG others(10): Show AAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01071.hp2 others(3): Show HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01433.hp2 HG02071.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0225 a0001c0001t0001g0392 a0001c0002t0001g0001 others(2): Show a0001c0001t0001g0225 a0001c0001t0001g0392 a0001c0002t0001g0001 a0001c0002t0001g0226 a0001c0002t0001g0227	6	394	0.0152	-17	c.214 others(34): Show c.214-3740_214-3724delGAAAGAAAGAAAGAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800217	AAATAAGA others(10): Show AAATAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp1 HG01891.hp1 others(23): Show HG01106.hp1 HG01433.hp1 HG01891.hp1 HG01934.hp2 HG02004.hp1 HG02071.hp2 HG02132.hp2 HG02300.hp1 HG02615.hp1 HG02698.hp1 HG03688.hp2 HG03831.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18948.hp1 NA18981.hp2 NA18988.hp2 NA19010.hp1 NA19054.hp2 NA19067.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0002 a0001c0003 a0001c0017 others(4): Show a0001c0002 a0001c0003 a0001c0017 a0003c0004 a0003c0022 a0004c0007 a0009c0021	a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 others(4): Show a0001c0002t0001 a0001c0003t0001 a0001c0017t0001 a0003c0004t0001 a0003c0022t0001 a0004c0007t0001 a0009c0021t0001	a0001c0002t0001g0167 a0001c0003t0001g0349 a0001c0003t0001g0351 others(23): Show a0001c0002t0001g0167 a0001c0003t0001g0349 a0001c0003t0001g0351 a0001c0003t0001g0360 a0001c0003t0001g0362 a0001c0003t0001g0363 a0001c0003t0001g0379 a0001c0003t0001g0380 a0001c0003t0001g0381 a0001c0003t0001g0382 a0001c0003t0001g0386 a0001c0003t0001g0389 a0001c0017t0001g0371 a0003c0004t0001g0051 a0003c0004t0001g0052 a0003c0004t0001g0082 a0003c0004t0001g0123 a0003c0004t0001g0126 a0003c0004t0001g0129 a0003c0004t0001g0130 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0322 a0003c0022t0001g0127 a0004c0007t0001g0222 a0009c0021t0001g0117	26	394	0.0660	-17	c.204 others(36): Show c.2047-1350_2047-1334delTAAGAAAGAAAGAAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPRIN1_chr11_34046731_34107610	34079905	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(166): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0013 a0002c0003t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(160): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0004g0002 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0126 a0001c0001t0006g0240 a0001c0001t0009g0067 a0001c0001t0014g0049 a0001c0001t0015g0142 a0001c0001t0016g0085 a0001c0001t0017g0209 a0001c0001t0018g0130 a0001c0001t0019g0132 a0001c0001t0020g0069 a0001c0001t0021g0101 a0001c0001t0022g0077 a0001c0001t0025g0163 a0001c0001t0026g0120 a0001c0001t0027g0196 a0001c0001t0028g0114 a0001c0001t0030g0168 a0001c0001t0031g0146 a0001c0001t0032g0235 a0001c0002t0013g0118 a0002c0003t0001g0117 a0003c0004t0001g0222	169	246	0.6870	-17	c.826 others(32): Show c.826+159_826+175delTTTTTTTTTTTTTTTTT	CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
CAPS2_chr12_75270979_75335324	75311707	AAAAACAA others(10): Show AAAAACAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02109.hp2 HG02280.hp1 others(2): Show HG00609.hp2 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0001 a0001c0001t0002 a0001c0001t0022	a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0002g0239 a0001c0001t0022g0237	5	370	0.0135	-17	c.545 others(34): Show c.545+1124_545+1140delGTTTTTTTTTTTGTTTT	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CAPZA1_chr1_112614832_112676616	112627636	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	368	0.0027	-17	c.39+ others(32): Show c.39+7767_39+7783delAAAAAAAAAAAAAAAAA	CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116880696	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02280.hp1 others(12): Show HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02572.hp2 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp1 NA18972.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0005 a0001c0002t0030 others(1): Show a0001c0001t0002 a0001c0002t0005 a0001c0002t0030 a0001c0002t0031	a0001c0001t0002g0134 a0001c0002t0005g0002 a0001c0002t0005g0085 others(11): Show a0001c0001t0002g0134 a0001c0002t0005g0002 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0002t0005g0091 a0001c0002t0005g0092 a0001c0002t0005g0094 a0001c0002t0005g0096 a0001c0002t0005g0098 a0001c0002t0030g0097 a0001c0002t0031g0087	15	354	0.0424	-17	c.40- others(32): Show c.40-7409_40-7393delTTTTTTTTTTTTTTTTT	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890522	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	354	0.0028	-17	c.103 others(34): Show c.103+2334_103+2350delAAATATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19471865	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG00099.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0001g0087 a0001c0001t0001g0120	2	364	0.0055	-17	c.3+1 others(32): Show c.3+13554_3+13570delTTTTTTTTTTTTTTTTT	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 9132 hits)