Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CALN1_chr7_71774491_72417338	71798099	GACAGAGA others(17): Show GACAGAGAGAGACAGAGACAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02922.hp1 HG01433.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0027 a0001c0001t0008 a0001c0001t0027	a0001c0001t0008g0027 a0001c0001t0027g0005 a0001c0001t0008g0027 a0001c0001t0027g0005	2	142	0.0141	-24	c.659 others(43): Show c.659-10221_659-10198delGTCTCTGTCTCTGTCTCTCTCTGT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71798101	CAGAGAGA others(17): Show CAGAGAGAGACAGAGACAGAGACAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG02080.hp2 others(5): Show HG00639.hp1 HG00738.hp2 HG02080.hp2 HG02523.hp1 HG02723.hp1 HG02735.hp1 HG03195.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0019 others(3): Show a0001c0001t0002 a0001c0001t0017 a0001c0001t0019 a0001c0001t0046 a0001c0001t0047 a0001c0001t0051	a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0113 others(5): Show a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0017g0035 a0001c0001t0019g0085 a0001c0001t0046g0127 a0001c0001t0047g0128 a0001c0001t0051g0132	8	123	0.0650	-24	c.659 others(43): Show c.659-10223_659-10200delCTGTCTCTGTCTCTGTCTCTCTCT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	6/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	71897994	AGAGAGAG others(17): Show AGAGAGAGAGGGAGGGAGGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp2 HG02622.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0076 a0001c0001t0009g0029 a0001c0001t0001g0076 a0001c0001t0009g0029	2	140	0.0143	-24	c.502 others(43): Show c.502-87526_502-87503delCCCCCCCCTCCCTCCCTCTCTCTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72192625	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01255.hp2 others(17): Show HG01106.hp2 HG01109.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02523.hp2 HG02683.hp1 HG03704.hp2 HG06807.hp2 NA18961.hp1 NA18975.hp2 NA18990.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0044 a0001c0001t0050 a0001c0001t0052	a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0110 others(17): Show a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0002g0036 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0014 a0001c0001t0006g0007 a0001c0001t0006g0017 a0001c0001t0012g0013 a0001c0001t0014g0046 a0001c0001t0016g0096 a0001c0001t0021g0083 a0001c0001t0024g0008 a0001c0001t0044g0098 a0001c0001t0050g0131 a0001c0001t0052g0133	20	23	0.8696	-24	c.244 others(43): Show c.244+86037_244+86060delTAATAATAATAATAATAATAATAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALY_chr10_133319072_133341896	133324022	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	20	0.0500	-24	c.15 others(35): Show c.1549_*1572delATTATTATTATTATTATTATTATT	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding		49		chr10	TogoVar
CALY_chr10_133319072_133341896	133324426	GCCAATGG others(17): Show GCCAATGGTGGGGGGCTTCCATCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0145 a0001c0001t0017g0145	1	248	0.0040	-24	c.11 others(35): Show c.1145_*1168delTGGATGGAAGCCCCCCACCATTGG	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	6/6	1377		chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691354	TATATATA others(17): Show TATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02293.hp1 others(2): Show HG01069.hp1 HG01071.hp1 HG02293.hp1 HG02886.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0096 a0001c0002t0032 a0001c0001t0003 a0001c0001t0096 a0001c0002t0032	a0001c0001t0003g0001 a0001c0001t0003g0045 a0001c0001t0003g0179 others(2): Show a0001c0001t0003g0001 a0001c0001t0003g0045 a0001c0001t0003g0179 a0001c0001t0096g0098 a0001c0002t0032g0008	5	214	0.0234	-24	c.299 others(43): Show c.299+24568_299+24591delAATATATATATATATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12734355	TATATATA others(17): Show TATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 NA20129.hp2 HG02717.hp2 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0040 a0001c0002t0044 a0001c0001t0002 a0001c0001t0040 a0001c0002t0044	a0001c0001t0002g0032 a0001c0001t0040g0055 a0001c0002t0044g0112 a0001c0001t0002g0032 a0001c0001t0040g0055 a0001c0002t0044g0112	3	209	0.0144	-24	c.300 others(43): Show c.300-26587_300-26564delTATATATATATATATATAGATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12734439	CACACATA others(17): Show CACACATATGTGTATATATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02280.hp1 others(6): Show HG02055.hp2 HG02109.hp2 HG02280.hp1 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 others(5): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0039 a0001c0001t0040 a0001c0001t0108 a0001c0002t0008 a0001c0002t0010 a0001c0002t0044	a0001c0001t0002g0032 a0001c0001t0011g0017 a0001c0001t0039g0157 others(6): Show a0001c0001t0002g0032 a0001c0001t0011g0017 a0001c0001t0039g0157 a0001c0001t0040g0055 a0001c0001t0108g0020 a0001c0002t0008g0113 a0001c0002t0008g0205 a0001c0002t0010g0079 a0001c0002t0044g0112	9	212	0.0425	-24	c.300 others(43): Show c.300-26483_300-26460delCACATATGTGTATATATACACATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801297	GTATCTAT others(17): Show GTATCTATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03225.hp1 NA19043.hp1 HG02630.hp2 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0068 a0001c0002t0016 a0001c0002t0068	a0001c0002t0016g0005 a0001c0002t0016g0166 a0001c0002t0068g0021 a0001c0002t0016g0005 a0001c0002t0016g0166 a0001c0002t0068g0021	3	152	0.0197	-24	c.641 others(43): Show c.641+10098_641+10121delATCTATCTATCTATCTATCTATCT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12830825	CAGTCATG others(17): Show CAGTCATGGGAAGTCCTGTTGGTTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00735.hp2 others(77): Show HG00280.hp1 HG00280.hp2 HG00735.hp2 HG01069.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp2 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp1 NA18990.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19085.hp1 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0108 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0002t0011 a0001c0002t0023 a0001c0002t0024 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0003t0022	a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 others(77): Show a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0191 a0001c0001t0002g0003 a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0088 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0206 a0001c0001t0011g0009 a0001c0001t0011g0017 a0001c0001t0013g0107 a0001c0001t0013g0120 a0001c0001t0013g0155 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0018g0013 a0001c0001t0018g0090 a0001c0001t0018g0190 a0001c0001t0022g0070 a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0001t0036g0022 a0001c0001t0036g0125 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0049 a0001c0001t0038g0174 a0001c0001t0048g0182 a0001c0001t0049g0101 a0001c0001t0050g0027 a0001c0001t0056g0154 a0001c0001t0088g0087 a0001c0001t0089g0035 a0001c0001t0090g0115 a0001c0001t0091g0030 a0001c0001t0092g0163 a0001c0001t0093g0114 a0001c0001t0094g0094 a0001c0001t0095g0149 a0001c0001t0096g0098 a0001c0001t0097g0065 a0001c0001t0098g0037 a0001c0001t0100g0135 a0001c0001t0101g0156 a0001c0001t0102g0010 a0001c0001t0108g0020 a0001c0001t0109g0161 a0001c0001t0111g0028 a0001c0001t0112g0038 a0001c0002t0011g0164 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0024g0128 a0001c0002t0024g0131 a0001c0002t0051g0178 a0001c0002t0052g0214 a0001c0002t0053g0002 a0001c0002t0054g0019 a0001c0002t0055g0207 a0001c0003t0022g0024	80	214	0.3738	-24	c.19 others(35): Show c.1945_*1968delGGGAAGTCCTGTTGGTTGAGTCAT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	11/11	1945	INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2D_chr4_113446032_113766738	113751464	GTATACAT others(17): Show GTATACATTATCATTAATAAAATTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0011 a0001c0001t0016g0011	1	276	0.0036	-24	c.160 others(41): Show c.160+7832_160+7855delAAATTTTATTAATGATAATGTATA	CAMK2D	ENSG00000145349.20	transcript	ENST00000511664.6	protein_coding	2/20			chr4	TogoVar
CAMK2N1_chr1_20477391_20491210	20490514	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG02071.hp1 others(29): Show HG00140.hp1 HG00673.hp1 HG02071.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp1 HG02486.hp1 HG02647.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03453.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp2 NA18747.hp1 NA18906.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp1 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0026 a0001c0001t0027	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0019 a0001c0001t0004g0004 a0001c0001t0005g0005 a0001c0001t0006g0006 a0001c0001t0007g0012 a0001c0001t0026g0045 a0001c0001t0027g0046	32	108	0.2963	-24	c.-51 others(35): Show c.-5159_-5136delTGTGTGTGTGTGTGTGTGTGTGTG	CAMK2N1	ENSG00000162545.6	transcript	ENST00000375078.4	protein_coding		4305		chr1	TogoVar
CAMK4_chr5_111219384_111499886	111273700	TATATATA others(17): Show TATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0131 a0001c0001t0037g0131	1	220	0.0045	-24	c.161 others(43): Show c.161+49058_161+49081delTATATATATATATATATACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111443265	TATATATA others(17): Show TATATATATATATATACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03471.hp2 HG02647.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0144 a0001c0001t0143 a0001c0001t0144	a0001c0001t0143g0233 a0001c0001t0144g0042 a0001c0001t0143g0233 a0001c0001t0144g0042	2	241	0.0083	-24	c.460 others(41): Show c.460-3419_460-3396delTATATATATATATACACACACACA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469158	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0051 a0001c0001t0011g0051	1	244	0.0041	-24	c.626 others(41): Show c.626-4151_626-4128delAAAAAAAAAAAAAATATATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469160	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01109.hp1 others(20): Show HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp1 HG01515.hp2 HG01517.hp1 HG02015.hp1 HG02135.hp2 HG02148.hp1 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG03239.hp1 HG03927.hp2 HG04204.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18970.hp1 NA18977.hp1 NA19065.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(15): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0067 a0001c0001t0090 a0001c0001t0092 a0001c0001t0097 a0001c0001t0110 a0001c0001t0117 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0124	a0001c0001t0001g0097 a0001c0001t0001g0137 a0001c0001t0011g0080 others(20): Show a0001c0001t0001g0097 a0001c0001t0001g0137 a0001c0001t0011g0080 a0001c0001t0011g0209 a0001c0001t0012g0165 a0001c0001t0012g0225 a0001c0001t0018g0175 a0001c0001t0023g0024 a0001c0001t0031g0170 a0001c0001t0035g0022 a0001c0001t0035g0135 a0001c0001t0036g0138 a0001c0001t0036g0154 a0001c0001t0067g0179 a0001c0001t0090g0132 a0001c0001t0092g0089 a0001c0001t0097g0241 a0001c0001t0110g0101 a0001c0001t0117g0021 a0001c0001t0120g0133 a0001c0001t0121g0009 a0001c0001t0122g0067 a0001c0001t0124g0093	23	243	0.0947	-24	c.626 others(41): Show c.626-4149_626-4126delAAAAAAAAAAAATATATATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMK4_chr5_111219384_111499886	111469162	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00735.hp2 HG01071.hp2 others(8): Show HG00099.hp2 HG00735.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01361.hp2 HG01978.hp1 HG02698.hp1 HG02738.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0093 a0001c0001t0098 a0001c0001t0101	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0194 others(8): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0004g0016 a0001c0001t0007g0008 a0001c0001t0007g0121 a0001c0001t0007g0155 a0001c0001t0093g0028 a0001c0001t0098g0020 a0001c0001t0101g0149	11	237	0.0464	-24	c.626 others(41): Show c.626-4147_626-4124delAAAAAAAAAATATATATATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3871333	GTTTTTTT others(17): Show GTTTTTTTTTTTTTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(66): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00673.hp1 HG00673.hp2 HG01175.hp1 HG01346.hp2 HG01515.hp2 HG01517.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp1 NA18960.hp1 NA18971.hp1 NA18972.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19005.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19081.hp1 NA19081.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(24): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0002t0027 a0001c0002t0028 a0001c0002t0032 a0001c0002t0055 a0001c0002t0058 a0001c0002t0064 a0001c0002t0068 a0001c0003t0030 a0001c0005t0006 a0001c0005t0012 a0001c0013t0008 a0002c0001t0001 a0002c0001t0003 a0002c0001t0004	a0001c0002t0001g0201 a0001c0002t0001g0232 a0001c0002t0001g0250 others(63): Show a0001c0002t0001g0201 a0001c0002t0001g0232 a0001c0002t0001g0250 a0001c0002t0001g0265 a0001c0002t0001g0272 a0001c0002t0001g0280 a0001c0002t0001g0313 a0001c0002t0001g0347 a0001c0002t0001g0350 a0001c0002t0001g0383 a0001c0002t0002g0155 a0001c0002t0003g0214 a0001c0002t0003g0223 a0001c0002t0003g0234 a0001c0002t0003g0247 a0001c0002t0003g0249 a0001c0002t0003g0259 a0001c0002t0003g0308 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0002t0003g0318 a0001c0002t0003g0333 a0001c0002t0004g0004 a0001c0002t0004g0013 a0001c0002t0004g0096 a0001c0002t0004g0101 a0001c0002t0004g0102 a0001c0002t0004g0122 a0001c0002t0004g0134 a0001c0002t0004g0142 a0001c0002t0004g0143 a0001c0002t0004g0150 a0001c0002t0005g0157 a0001c0002t0006g0289 a0001c0002t0007g0145 a0001c0002t0008g0229 a0001c0002t0009g0258 a0001c0002t0009g0337 a0001c0002t0009g0348 a0001c0002t0009g0349 a0001c0002t0009g0390 a0001c0002t0010g0305 a0001c0002t0021g0156 a0001c0002t0022g0141 a0001c0002t0022g0169 a0001c0002t0024g0195 a0001c0002t0027g0398 a0001c0002t0028g0393 a0001c0002t0032g0023 a0001c0002t0055g0222 a0001c0002t0058g0400 a0001c0002t0064g0408 a0001c0002t0068g0414 a0001c0003t0030g0415 a0001c0005t0006g0273 a0001c0005t0012g0282 a0001c0013t0008g0227 a0002c0001t0001g0216 a0002c0001t0001g0233 a0002c0001t0003g0245 a0002c0001t0003g0246 a0002c0001t0003g0322 a0002c0001t0003g0323 a0002c0001t0003g0360 a0002c0001t0004g0129 a0002c0001t0004g0154	69	429	0.1608	-24	c.112 others(43): Show c.1124+1197_1124+1220delAAAAAAAAAACAAAAAAAAAAAAA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	12/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44673500	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	198	0.0051	-24	c.377 others(43): Show c.377-30773_377-30750delGAAGGAAGGAAGGAGGGAAGGAAG	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMKMT_chr2_44356947_44777592	44723603	CATACATA others(17): Show CATACATAAATAAATAAATAAATAA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG03139.hp2 others(1): Show HG02647.hp2 HG02965.hp1 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0010 others(1): Show a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0012	4	178	0.0225	-24	c.623 others(41): Show c.623+8254_623+8277delCATAAATAAATAAATAAATAAATA	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAMSAP2_chr1_200733893_200865704	200817153	CACATACA others(17): Show CACATACACACACGTGTGTGTATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	363	0.0028	-24	c.645 others(41): Show c.645+1513_645+1536delTACACACACGTGTGTGTATATACA	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMSAP3_chr19_7590863_7623304	7599794	TCCACCCG others(17): Show TCCACCCGCCCATCCATCCACCCAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp2 others(22): Show HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01891.hp2 HG02004.hp1 HG02055.hp1 HG02273.hp2 HG02280.hp1 HG02523.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03471.hp2 NA19030.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0023t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 others(22): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0206 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0168 a0001c0002t0001g0205 a0001c0009t0001g0031 a0001c0009t0001g0035 a0001c0009t0001g0040 a0001c0023t0001g0037	25	356	0.0702	-24	c.148 others(41): Show c.148+3651_148+3674delGCCCATCCATCCACCCACCCACCC	CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	6926438	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19043.hp1 HG03486.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0011 a0001c0006t0005 a0001c0001t0011 a0001c0006t0005	a0001c0001t0011g0058 a0001c0006t0005g0057 a0001c0001t0011g0058 a0001c0006t0005g0057	2	17	0.1176	-24	c.234 others(45): Show c.234+101256_234+101279delTTCTTTCTTTCTTTCTTTCTTTCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7102023	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG01243.hp2 others(11): Show HG00735.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp2 HG02055.hp2 HG02622.hp2 HG02723.hp2 HG03130.hp2 HG03486.hp2 HG03688.hp1 HG03704.hp1 NA18999.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0016 a0002c0004 a0007c0014 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0001c0003t0023 a0001c0005t0005 a0001c0006t0005 a0001c0009t0019 a0001c0010t0004 a0001c0016t0024 a0002c0004t0018 a0007c0014t0001 a0008c0011t0016	a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0002 others(11): Show a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0007g0021 a0001c0001t0025g0052 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0006t0005g0057 a0001c0009t0019g0039 a0001c0010t0004g0031 a0001c0016t0024g0053 a0002c0004t0018g0015 a0007c0014t0001g0041 a0008c0011t0016g0029	14	17	0.8235	-24	c.302 others(43): Show c.302+10676_302+10699delCACACACACACACACACACACACA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7271565	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0054 a0001c0001t0013g0054	1	24	0.0417	-24	c.438 others(43): Show c.438+21965_438+21988delGATAGATAGATAGATAGATAGATA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398183	CTCTCTCT others(17): Show CTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	52	0.0192	-24	c.439 others(43): Show c.439-69645_439-69622delCTCTCTCTCTATATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398187	CTCTCTCT others(17): Show CTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0055 a0001c0006t0001g0055	1	53	0.0189	-24	c.439 others(43): Show c.439-69641_439-69618delCTCTCTATATATATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7398193	CTATATAT others(17): Show CTATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0025 a0001c0002t0003g0025	1	22	0.0455	-24	c.439 others(43): Show c.439-69615_439-69592delATATATATATATATATATATATAT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7602080	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA20300.hp1 HG02451.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0020 a0001c0002t0003g0025 a0001c0002t0001g0020 a0001c0002t0003g0025	2	17	0.1176	-24	c.511 others(43): Show c.511-38278_511-38255delTCCTTCCTTCCTTCCTTCCTTCCT	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN13_chr2_30717771_30812446	30759022	TCTTCCTT others(17): Show TCTTCCTTCCCTCCCTCCCTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(57): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp1 HG01975.hp1 HG02071.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02300.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp2 HG02717.hp2 HG03017.hp2 HG03209.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18964.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19009.hp1 NA19011.hp1 NA19070.hp2 NA19078.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0020 others(3): Show a0001c0001 a0001c0002 a0001c0020 a0001c0021 a0002c0003 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0020t0004 a0001c0021t0001 a0002c0003t0001 a0009c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0052 others(56): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0215 a0001c0001t0001g0261 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0368 a0001c0001t0002g0047 a0001c0001t0002g0134 a0001c0001t0002g0331 a0001c0001t0002g0349 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0003g0104 a0001c0001t0003g0138 a0001c0001t0003g0145 a0001c0001t0003g0182 a0001c0001t0003g0271 a0001c0001t0003g0365 a0001c0001t0004g0023 a0001c0001t0004g0043 a0001c0001t0004g0125 a0001c0001t0004g0161 a0001c0001t0004g0370 a0001c0001t0005g0360 a0001c0002t0001g0166 a0001c0002t0002g0012 a0001c0002t0002g0048 a0001c0002t0002g0122 a0001c0002t0002g0169 a0001c0002t0002g0195 a0001c0002t0002g0201 a0001c0002t0002g0217 a0001c0002t0002g0288 a0001c0002t0002g0311 a0001c0002t0002g0332 a0001c0002t0002g0357 a0001c0020t0004g0054 a0001c0021t0001g0278 a0002c0003t0001g0305 a0002c0003t0001g0371 a0009c0018t0001g0313	60	372	0.1613	-24	c.775 others(39): Show c.775-909_775-886delGAAGGAGGGAGGGAGGGAAGGAAG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN13_chr2_30717771_30812446	30759053	TCCCTCCC others(17): Show TCCCTCCCTCCCTCCCTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	382	0.0026	-24	c.775 others(39): Show c.775-940_775-917delGAGGGAGGAGGGAGGGAGGGAGGG	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	7/22			chr2	TogoVar
CAPN1_chr11_65176928_65217006	65213719	CACCTGAA others(17): Show CACCTGAACCCTCCTATGGGGTGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03579.hp1 HG03471.hp2 HG03579.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0267 a0005c0005t0001g0268 a0005c0005t0001g0267 a0005c0005t0001g0268	2	392	0.0051	-24	c.24 others(35): Show c.2434_*2457delACCTGAACCCTCCTATGGGGTGTA	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		1714		chr11	TogoVar
CAPN1_chr11_65176928_65217006	65216820	GGTGGGTG others(17): Show GGTGGGTGAGTGGGTGGGTGAGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	392	0.0026	-24	c.55 others(35): Show c.5535_*5558delGTGGGTGAGTGGGTGGGTGAGTGA	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding		4815		chr11	TogoVar
CAPN3_chr15_42354501_42417317	42374986	AATTTATT others(17): Show AATTTATTTATTTATTTATTTATTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG02055.hp1 others(20): Show HG00642.hp1 HG01168.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03098.hp1 HG03195.hp1 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03831.hp2 HG06807.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0010 a0012 a0016	a0001c0020 a0002c0006 a0002c0010 others(6): Show a0001c0020 a0002c0006 a0002c0010 a0003c0005 a0005c0008 a0007c0016 a0010c0018 a0012c0017 a0016c0019	a0001c0020t0001 a0002c0006t0001 a0002c0010t0001 others(6): Show a0001c0020t0001 a0002c0006t0001 a0002c0010t0001 a0003c0005t0001 a0005c0008t0001 a0007c0016t0001 a0010c0018t0003 a0012c0017t0003 a0016c0019t0003	a0001c0020t0001g0034 a0002c0006t0001g0002 a0002c0006t0001g0053 others(19): Show a0001c0020t0001g0034 a0002c0006t0001g0002 a0002c0006t0001g0053 a0002c0006t0001g0054 a0002c0010t0001g0031 a0002c0010t0001g0032 a0002c0010t0001g0033 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0019 a0005c0008t0001g0199 a0005c0008t0001g0200 a0005c0008t0001g0203 a0005c0008t0001g0204 a0007c0016t0001g0201 a0007c0016t0001g0202 a0010c0018t0003g0013 a0012c0017t0003g0012 a0016c0019t0003g0011	23	120	0.1917	-24	c.310 others(41): Show c.310-9470_310-9447delTTATTTATTTATTTATTTATTTAT	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
CAPN9_chr1_230742388_230806989	230751585	CAAAGAAA others(17): Show CAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp1 HG02976.hp1 NA19043.hp1	a0002 a0011 a0002 a0011	a0002c0009 a0011c0015 a0002c0009 a0011c0015	a0002c0009t0001 a0011c0015t0001 a0002c0009t0001 a0011c0015t0001	a0002c0009t0001g0045 a0011c0015t0001g0009 a0002c0009t0001g0045 a0011c0015t0001g0009	2	283	0.0071	-24	c.214 others(41): Show c.214-3750_214-3727delAAGAAAGAAAGAAAGAAAGAAAGA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751605	GAAAGAGA others(17): Show GAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03239.hp2 HG04204.hp2 others(4): Show HG00738.hp1 HG03239.hp2 HG04204.hp2 NA18963.hp1 NA19043.hp2 NA19085.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0022 a0001c0001 a0003c0004 a0003c0022	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0003c0022t0001	a0001c0001t0001g0014 a0001c0001t0001g0137 a0001c0001t0001g0144 others(4): Show a0001c0001t0001g0014 a0001c0001t0001g0137 a0001c0001t0001g0144 a0003c0004t0001g0114 a0003c0004t0001g0124 a0003c0004t0002g0112 a0003c0022t0001g0118	7	356	0.0197	-24	c.214 others(41): Show c.214-3730_214-3707delAAGAGAAAGAAAGAAAGAAAGAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230751609	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0336 a0001c0003t0001g0336	1	341	0.0029	-24	c.214 others(41): Show c.214-3675_214-3652delAGAAAGAAAGAAAGAAAGAAAGAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230768037	TAAATAAA others(17): Show TAAATAAATAAATAAATAAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0361 a0002c0013t0001g0361	1	391	0.0026	-24	c.705 others(39): Show c.705+336_705+359delTAAATAAATAAAAAATAAAATAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230769614	CACCTATC others(17): Show CACCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00642.hp2 others(12): Show HG00423.hp2 HG00438.hp2 HG00642.hp2 HG01993.hp2 HG03239.hp1 HG03486.hp1 HG03516.hp1 HG03688.hp2 HG03942.hp1 HG04204.hp2 NA18747.hp2 NA18963.hp1 NA19054.hp2 NA19085.hp2 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0004 a0003c0022 others(2): Show a0001c0002 a0003c0004 a0003c0022 a0004c0007 a0004c0032	a0001c0002t0001 a0003c0004t0001 a0003c0022t0001 others(2): Show a0001c0002t0001 a0003c0004t0001 a0003c0022t0001 a0004c0007t0001 a0004c0032t0001	a0001c0002t0001g0153 a0003c0004t0001g0114 a0003c0004t0001g0116 others(12): Show a0001c0002t0001g0153 a0003c0004t0001g0114 a0003c0004t0001g0116 a0003c0004t0001g0117 a0003c0004t0001g0119 a0003c0004t0001g0122 a0003c0004t0001g0124 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0305 a0003c0022t0001g0118 a0004c0007t0001g0160 a0004c0007t0001g0218 a0004c0032t0001g0294	15	315	0.0476	-24	c.789 others(39): Show c.789+353_789+376delCCTATCTATCTATCTATCTATCTA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800218	AATAAGAA others(17): Show AATAAGAAAGAAAGAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02615.hp2 HG01243.hp2 HG02615.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0074 a0004c0007t0002g0285 a0004c0007t0002g0074 a0004c0007t0002g0285	2	360	0.0056	-24	c.204 others(43): Show c.2047-1350_2047-1327delTAAGAAAGAAAGAAGAAAGAAAGA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800231	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0264 a0003c0004t0001g0264	1	274	0.0036	-24	c.204 others(43): Show c.2047-1287_2047-1264delAAAGAAAGAAAGAAAGAAAGAAAG	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800286	GAAAGAAA others(17): Show GAAAGAAAGAAAGAAAGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19065.hp2 HG01257.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0031 a0001c0002 a0002c0031	a0001c0002t0001 a0002c0031t0001 a0001c0002t0001 a0002c0031t0001	a0001c0002t0001g0272 a0002c0031t0001g0325 a0001c0002t0001g0272 a0002c0031t0001g0325	2	392	0.0051	-24	c.204 others(43): Show c.2047-1281_2047-1258delAGAAAGAAAGAAAGAAAGGAAAAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPNS1_chr19_36135066_36155353	36151595	AGCGCGCC others(17): Show AGCGCGCCCCGCCTGCCCCGGCTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	478	0.0021	-24	c.17 others(35): Show c.1757_*1780delGCGCGCCCCGCCTGCCCCGGCTCG	CAPNS1	ENSG00000126247.11	transcript	ENST00000246533.8	protein_coding		1243		chr19	TogoVar
CAPS2_chr12_75270979_75335324	75291567	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0244 a0001c0001t0005g0244	1	171	0.0058	-24	c.112 others(41): Show c.1126+153_1126+176delTATATATATATATATATATATATA	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	13/16			chr12	TogoVar
CAPS2_chr12_75270979_75335324	75311699	GGAAAAAA others(17): Show GGAAAAAAAAAAACAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0293 a0001c0003t0032g0293	1	242	0.0041	-24	c.545 others(41): Show c.545+1125_545+1148delTTTTTTTTTTTGTTTTTTTTTTTC	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	7/16			chr12	TogoVar
CAPZA2_chr7_116857587_116927049	116890547	TATATATA others(17): Show TATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp1 HG01243.hp1 others(4): Show HG00140.hp1 HG00673.hp1 HG01243.hp1 HG02602.hp1 HG03927.hp2 NA18978.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0218 a0001c0001t0001g0226 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0218 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0262 a0001c0001t0001g0285	7	350	0.0200	-24	c.103 others(41): Show c.103+2379_103+2402delCACATATATATATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890571	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	339	0.0029	-24	c.103 others(41): Show c.103+2385_104-2396delTATATATATATATATATATATATA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116890587	TATATATA others(17): Show TATATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0299 a0001c0002t0004g0299	1	352	0.0028	-24	c.103 others(41): Show c.103+2399_104-2382delTATATATATACACACACACACACA	CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZB_chr1_19333775_19490539	19476168	GTAGATAG others(17): Show GTAGATAGATAGATAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 NA18522.hp2 HG02717.hp2 HG03098.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0201	3	39	0.0769	-24	c.3+9 others(37): Show c.3+9244_3+9267delTCTATCTATCTATCTATCTATCTA	CAPZB	ENSG00000077549.19	transcript	ENST00000264202.8	protein_coding	1/8			chr1	TogoVar

Search by Variant

Search

Search Results