Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CAPN1_chr11_65176928_65217006	65208201	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18954.hp2 NA18971.hp2 others(2): Show NA18944.hp2 NA18954.hp2 NA18971.hp2 NA19002.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show a0001c0001t0001g0021 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114	5	394	0.0127	0	c.167 others(6): Show c.1672-4C>T		CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	15/21					chr11	TogoVar
CAPN1_chr11_65176928_65217006	65209324	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0055 a0001c0014t0003g0055	1	394	0.0025	0	c.173 others(4): Show c.1731C>T	p.His others(6): Show p.His577His	CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	17/22	1818/2952	1731/2145	577/714		chr11	TogoVar
CAPN1_chr11_65176928_65217006	65210013	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0226 a0001c0002t0001g0226	1	394	0.0025	0	c.186 others(6): Show c.1864-5C>T		CAPN1	ENSG00000014216.16	transcript	ENST00000279247.11	protein_coding	18/21					chr11	TogoVar
CAPN2_chr1_223707539_223781018	223717830	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0007 a0009 a0011 a0012 a0013 a0014 a0016 a0018 a0019	a0001c0001 a0001c0005 a0001c0007 others(21): Show a0001c0001 a0001c0005 a0001c0007 a0001c0020 a0001c0022 a0001c0026 a0001c0030 a0001c0031 a0002c0004 a0002c0015 a0002c0035 a0003c0044 a0005c0021 a0005c0033 a0007c0036 a0009c0019 a0009c0034 a0011c0048 a0012c0027 a0013c0045 a0014c0032 a0016c0029 a0018c0043 a0019c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0005t0001 a0001c0005t0002 a0001c0007t0001 a0001c0007t0003 a0001c0020t0001 a0001c0020t0003 a0001c0022t0003 a0001c0026t0002 a0001c0030t0002 a0001c0031t0002 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0015t0001 a0002c0035t0001 a0003c0044t0002 a0005c0021t0001 a0005c0021t0003 a0005c0033t0001 a0007c0036t0007 a0009c0019t0004 a0009c0034t0004 a0011c0048t0002 a0012c0027t0001 a0013c0045t0002 a0014c0032t0002 a0016c0029t0002 a0018c0043t0002 a0019c0028t0002	a0001c0001t0001g0131 a0001c0001t0001g0171 a0001c0001t0001g0186 others(183): Show a0001c0001t0001g0131 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0128 a0001c0001t0002g0136 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0003g0130 a0001c0001t0003g0194 a0001c0001t0005g0134 a0001c0001t0005g0175 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0001t0005g0227 a0001c0001t0005g0273 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0284 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0006g0270 a0001c0001t0009g0333 a0001c0001t0009g0344 a0001c0001t0009g0345 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0005t0001g0158 a0001c0005t0001g0160 a0001c0005t0001g0162 a0001c0005t0001g0164 a0001c0005t0001g0182 a0001c0005t0001g0234 a0001c0005t0001g0269 a0001c0005t0001g0304 a0001c0005t0002g0003 a0001c0005t0002g0157 a0001c0005t0002g0159 a0001c0005t0002g0163 a0001c0005t0002g0183 a0001c0005t0002g0184 a0001c0005t0002g0254 a0001c0005t0002g0308 a0001c0007t0001g0174 a0001c0007t0001g0181 a0001c0007t0001g0204 a0001c0007t0001g0230 a0001c0007t0001g0232 a0001c0007t0001g0267 a0001c0007t0001g0289 a0001c0007t0001g0293 a0001c0007t0001g0294 a0001c0007t0001g0295 a0001c0007t0003g0132 a0001c0020t0001g0297 a0001c0020t0003g0275 a0001c0022t0003g0264 a0001c0022t0003g0265 a0001c0026t0002g0191 a0001c0030t0002g0261 a0001c0031t0002g0250 a0002c0004t0001g0129 a0002c0004t0001g0135 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0146 a0002c0004t0001g0166 a0002c0004t0001g0176 a0002c0004t0001g0185 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0192 a0002c0004t0001g0208 a0002c0004t0001g0209 a0002c0004t0001g0210 a0002c0004t0001g0218 a0002c0004t0001g0236 a0002c0004t0001g0243 a0002c0004t0001g0282 a0002c0004t0001g0296 a0002c0004t0001g0299 a0002c0004t0001g0309 a0002c0004t0002g0165 a0002c0004t0002g0201 a0002c0004t0005g0281 a0002c0015t0001g0151 a0002c0015t0001g0161 a0002c0015t0001g0259 a0002c0035t0001g0292 a0003c0044t0002g0104 a0005c0021t0001g0133 a0005c0021t0003g0148 a0005c0033t0001g0307 a0007c0036t0007g0127 a0009c0019t0004g0226 a0009c0019t0004g0257 a0009c0034t0004g0272 a0011c0048t0002g0302 a0012c0027t0001g0260 a0013c0045t0002g0103 a0014c0032t0002g0169 a0016c0029t0002g0197 a0018c0043t0002g0167 a0019c0028t0002g0228	187	378	0.4947	0	c.306 others(3): Show c.306G>A	p.Leu others(6): Show p.Leu102Leu	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/21	408/3366	306/2103	102/700		chr1	TogoVar
CAPN2_chr1_223707539_223781018	223772182	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp2 HG03491.hp2	a0014 a0014	a0014c0032 a0014c0032	a0014c0032t0002 a0014c0032t0002	a0014c0032t0002g0169 a0014c0032t0002g0169	1	378	0.0027	0	c.202 others(4): Show c.2022G>C	p.Lys others(6): Show p.Lys674Asn	CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	20/21	2124/3366	2022/2103	674/700		chr1	TogoVar
CAPN3_chr15_42354501_42417317	42390095	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18944.hp1 NA18944.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0094 a0011c0024t0001g0094	1	306	0.0033	0	c.944 others(3): Show c.944G>A	p.Arg others(6): Show p.Arg315Gln	CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	6/24	1249/3315	944/2466	315/821		chr15	TogoVar
CAPN3_chr15_42354501_42417317	42392725	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02109.hp1 HG02257.hp2 others(11): Show HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG03098.hp1 HG03098.hp2 HG03579.hp1 HG06807.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0007	a0002c0002 a0002c0014 a0003c0005 others(2): Show a0002c0002 a0002c0014 a0003c0005 a0005c0008 a0007c0016	a0002c0002t0001 a0002c0014t0001 a0002c0014t0006 others(3): Show a0002c0002t0001 a0002c0014t0001 a0002c0014t0006 a0003c0005t0001 a0005c0008t0001 a0007c0016t0001	a0002c0002t0001g0179 a0002c0014t0001g0291 a0002c0014t0006g0292 others(11): Show a0002c0002t0001g0179 a0002c0014t0001g0291 a0002c0014t0006g0292 a0003c0005t0001g0013 a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0016 a0003c0005t0001g0017 a0005c0008t0001g0199 a0005c0008t0001g0200 a0005c0008t0001g0203 a0005c0008t0001g0204 a0007c0016t0001g0201 a0007c0016t0001g0202	14	306	0.0458	0	c.102 others(6): Show c.1029+3A>G		CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	7/23					chr15	TogoVar
CAPN3_chr15_42354501_42417317	42396795	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02895.hp1 HG02897.hp2 others(1): Show HG02055.hp1 HG02895.hp1 HG02897.hp2 HG03486.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0002 a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0002 a0002c0006t0001g0051 a0002c0006t0001g0052	4	306	0.0131	0	c.111 others(6): Show c.1116-5A>G		CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	8/23					chr15	TogoVar
CAPN3_chr15_42354501_42417317	42401635	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02257.hp2 HG02258.hp1 others(3): Show HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG06807.hp1 NA20300.hp2	a0005 a0007 a0005 a0007	a0005c0008 a0007c0016 a0005c0008 a0007c0016	a0005c0008t0001 a0007c0016t0001 a0005c0008t0001 a0007c0016t0001	a0005c0008t0001g0199 a0005c0008t0001g0200 a0005c0008t0001g0203 others(3): Show a0005c0008t0001g0199 a0005c0008t0001g0200 a0005c0008t0001g0203 a0005c0008t0001g0204 a0007c0016t0001g0201 a0007c0016t0001g0202	6	306	0.0196	0	c.135 others(6): Show c.1355-6G>A		CAPN3	ENSG00000092529.26	transcript	ENST00000397163.8	protein_coding	10/23					chr15	TogoVar
CAPN5_chr11_77061971_77131155	77093683	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02055.hp1 HG02145.hp2 HG02451.hp2 others(3): Show HG02055.hp1 HG02145.hp2 HG02451.hp2 HG02976.hp2 HG03209.hp1 HG03486.hp1	a0003 a0013 a0003 a0013	a0003c0004 a0003c0009 a0013c0022 a0003c0004 a0003c0009 a0013c0022	a0003c0004t0002 a0003c0004t0021 a0003c0009t0029 others(1): Show a0003c0004t0002 a0003c0004t0021 a0003c0009t0029 a0013c0022t0003	a0003c0004t0002g0354 a0003c0004t0021g0009 a0003c0004t0021g0235 others(2): Show a0003c0004t0002g0354 a0003c0004t0021g0009 a0003c0004t0021g0235 a0003c0009t0029g0360 a0013c0022t0003g0177	6	382	0.0157	0	c.167 others(3): Show c.167G>A	p.Gly others(5): Show p.Gly56Asp	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	3/13	326/4367	167/1923	56/640		chr11	TogoVar
CAPN5_chr11_77061971_77131155	77116221	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA19002.hp2 NA19080.hp2 NA18940.hp2 NA19002.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0024 a0001c0001t0025	a0001c0001t0024g0004 a0001c0001t0025g0111 a0001c0001t0024g0004 a0001c0001t0025g0111	3	382	0.0079	0	c.894 others(5): Show c.894-5C>G		CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	6/12					chr11	TogoVar
CAPN5_chr11_77061971_77131155	77118358	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA19002.hp2 NA19080.hp2 NA18940.hp2 NA19002.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0024 a0001c0001t0025	a0001c0001t0024g0004 a0001c0001t0025g0111 a0001c0001t0024g0004 a0001c0001t0025g0111	3	382	0.0079	0	c.116 others(6): Show c.1167+6C>T		CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	8/12					chr11	TogoVar
CAPN5_chr11_77061971_77131155	77120713	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0204 a0009c0014t0002g0204	1	382	0.0026	0	c.129 others(4): Show c.1291G>A	p.Val others(6): Show p.Val431Met	CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	10/13	1450/4367	1291/1923	431/640		chr11	TogoVar
CAPN5_chr11_77061971_77131155	77122052	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0354 a0003c0004t0002g0354	1	382	0.0026	0	c.160 others(6): Show c.1603+3G>A		CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	11/12					chr11	TogoVar
CAPN5_chr11_77061971_77131155	77122717	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00408.hp1 HG00438.hp1 others(83): Show HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01167.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19003.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19064.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0020 others(3): Show a0001c0001 a0001c0002 a0001c0020 a0002c0003 a0003c0009 a0009c0014	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 others(15): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0001t0033 a0001c0001t0048 a0001c0002t0002 a0001c0002t0006 a0001c0002t0050 a0001c0020t0002 a0002c0003t0002 a0002c0003t0006 a0002c0003t0017 a0003c0009t0029 a0009c0014t0002	a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 others(78): Show a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0084 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0118 a0001c0001t0002g0138 a0001c0001t0002g0155 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0002g0265 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0314 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0333 a0001c0001t0002g0337 a0001c0001t0006g0043 a0001c0001t0006g0183 a0001c0001t0006g0206 a0001c0001t0006g0219 a0001c0001t0006g0227 a0001c0001t0006g0230 a0001c0001t0006g0237 a0001c0001t0006g0240 a0001c0001t0006g0280 a0001c0001t0006g0338 a0001c0001t0006g0343 a0001c0001t0010g0030 a0001c0001t0010g0034 a0001c0001t0010g0264 a0001c0001t0017g0101 a0001c0001t0017g0232 a0001c0001t0020g0163 a0001c0001t0020g0164 a0001c0001t0020g0166 a0001c0001t0029g0362 a0001c0001t0030g0071 a0001c0001t0033g0226 a0001c0001t0048g0267 a0001c0002t0002g0210 a0001c0002t0006g0212 a0001c0002t0050g0361 a0001c0020t0002g0285 a0002c0003t0002g0356 a0002c0003t0006g0042 a0002c0003t0017g0199 a0003c0009t0029g0360 a0009c0014t0002g0204	86	382	0.2251	0	c.174 others(6): Show c.1740+5G>C		CAPN5	ENSG00000149260.18	transcript	ENST00000648180.1	protein_coding	12/12					chr11	TogoVar
CAPN6_chrX_111240099_111275483	111247363	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02071.hp1 NA18974.hp1 NA19058.hp1 HG02071.hp1 NA18974.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0025 a0001c0001t0013g0056 a0001c0001t0001g0025 a0001c0001t0013g0056	3	242	0.0124	0	c.174 others(6): Show c.1743+5G>A		CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	12/12					chrX	TogoVar
CAPN6_chrX_111240099_111275483	111248937	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp1 HG02559.hp2 HG02109.hp1 HG02559.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0011 a0003c0006t0011	a0003c0006t0011g0020 a0003c0006t0011g0020	2	242	0.0083	0	c.127 others(4): Show c.1279A>G	p.Lys others(6): Show p.Lys427Glu	CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	9/13	1407/3532	1279/1926	427/641		chrX	TogoVar
CAPN6_chrX_111240099_111275483	111251749	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	242	0.0041	0	c.700 others(5): Show c.700-7C>T		CAPN6	ENSG00000077274.9	transcript	ENST00000324068.2	protein_coding	5/12					chrX	TogoVar
CAPN7_chr3_15201246_15257916	15229057	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0002 a0001c0008t0001g0002	1	376	0.0027	0	c.936 others(3): Show c.936C>T	p.Thr others(6): Show p.Thr312Thr	CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	8/21	1186/4348	936/2442	312/813		chr3	TogoVar
CAPN7_chr3_15201246_15257916	15232515	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01891.hp1 HG01891.hp2 others(46): Show HG01192.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0003c0004t0003 a0003c0004t0006 a0003c0004t0020	a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0003g0284 others(41): Show a0001c0001t0003g0278 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0297 a0001c0001t0004g0006 a0001c0001t0004g0016 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0005g0035 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0006g0290 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0009g0031 a0001c0001t0009g0226 a0001c0001t0010g0047 a0001c0001t0010g0048 a0001c0001t0012g0041 a0001c0001t0012g0042 a0001c0001t0014g0299 a0001c0001t0017g0039 a0001c0001t0018g0273 a0001c0001t0019g0035 a0003c0004t0003g0279 a0003c0004t0003g0281 a0003c0004t0006g0277 a0003c0004t0006g0282 a0003c0004t0006g0293 a0003c0004t0020g0280	49	376	0.1303	0	c.103 others(6): Show c.1033-4C>T		CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	9/20					chr3	TogoVar
CAPN7_chr3_15201246_15257916	15240622	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	376	0.0027	0	c.155 others(6): Show c.1552+5A>G		CAPN7	ENSG00000131375.10	transcript	ENST00000253693.7	protein_coding	13/20					chr3	TogoVar
CAPN9_chr1_230742388_230806989	230779137	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0346 a0001c0003t0001g0346	1	394	0.0025	0	c.111 others(6): Show c.1114+4G>T		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	9/19					chr1	TogoVar
CAPN9_chr1_230742388_230806989	230795282	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0081 a0002c0013t0001g0081	1	394	0.0025	0	c.198 others(6): Show c.1987+3A>G		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	18/19					chr1	TogoVar
CAPNS1_chr19_36135066_36155353	36141227	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	480	0.0021	0	c.209 others(5): Show c.209+7C>T		CAPNS1	ENSG00000126247.11	transcript	ENST00000246533.8	protein_coding	2/10					chr19	TogoVar
CAPNS1_chr19_36135066_36155353	36145971	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0124 a0001c0006t0001g0124	1	480	0.0021	0	c.526 others(5): Show c.526-5C>T		CAPNS1	ENSG00000126247.11	transcript	ENST00000246533.8	protein_coding	7/10					chr19	TogoVar
CAPRIN1_chr11_34046731_34107610	34097304	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02717.hp2 NA21309.hp2 HG02109.hp2 HG02717.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135	3	246	0.0122	0	c.200 others(6): Show c.2001+8A>T		CAPRIN1	ENSG00000135387.21	transcript	ENST00000341394.9	protein_coding	17/18					chr11	TogoVar
CAPRIN2_chr12_30704553_30759951	30719072	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	378	0.0027	0	c.205 others(6): Show c.2052+7A>G		CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	14/18					chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30723254	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG02109.hp2 HG02451.hp2 others(4): Show HG01167.hp2 HG02109.hp2 HG02451.hp2 HG02572.hp1 HG03098.hp1 HG03209.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0001 a0002c0002t0002 a0002c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0001	a0002c0002t0001g0033 a0002c0002t0001g0238 a0002c0002t0001g0239 others(3): Show a0002c0002t0001g0033 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0002g0276 a0002c0005t0001g0240 a0002c0005t0001g0241	7	378	0.0185	0	c.180 others(6): Show c.1800+5C>T		CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	12/18					chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30724457	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00558.hp2 HG00639.hp2 others(118): Show HG00280.hp2 HG00558.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02280.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18972.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0005 a0006 a0009	a0002c0002 a0003c0003 a0003c0016 others(4): Show a0002c0002 a0003c0003 a0003c0016 a0004c0007 a0005c0008 a0006c0010 a0009c0017	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(6): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0016t0001 a0004c0007t0001 a0004c0007t0002 a0005c0008t0002 a0006c0010t0001 a0009c0017t0001	a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0041 others(88): Show a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0041 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0069 a0002c0002t0001g0139 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0040 a0003c0003t0001g0042 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0187 a0003c0003t0001g0251 a0003c0016t0001g0158 a0004c0007t0001g0232 a0004c0007t0002g0259 a0004c0007t0002g0260 a0004c0007t0002g0270 a0004c0007t0002g0273 a0005c0008t0002g0271 a0005c0008t0002g0272 a0005c0008t0002g0274 a0005c0008t0002g0275 a0006c0010t0001g0236 a0006c0010t0001g0237 a0009c0017t0001g0169	121	378	0.3201	0	c.166 others(6): Show c.1663-6C>A		CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	10/18					chr12	TogoVar
CAPRIN2_chr12_30704553_30759951	30734969	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19006.hp2 NA19006.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0115 a0010c0018t0001g0115	1	378	0.0027	0	c.565 others(3): Show c.565A>T	p.Ser others(6): Show p.Ser189Cys	CAPRIN2	ENSG00000110888.19	transcript	ENST00000695402.1	protein_coding	5/19	805/3727	565/3138	189/1045		chr12	TogoVar
CAPS2_chr12_75270979_75335324	75299911	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00738.hp2 HG01256.hp2 others(3): Show HG00280.hp2 HG00738.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01516.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0004 a0001c0010 a0002c0004	a0001c0010t0001 a0002c0004t0001 a0001c0010t0001 a0002c0004t0001	a0001c0010t0001g0066 a0002c0004t0001g0018 a0002c0004t0001g0184 others(2): Show a0001c0010t0001g0066 a0002c0004t0001g0018 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0209	6	370	0.0162	0	c.666 others(3): Show c.666G>A	p.Lys others(6): Show p.Lys222Lys	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	9/17	1153/5072	666/1674	222/557		chr12	TogoVar
CAPS2_chr12_75270979_75335324	75316434	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18747.hp1 NA19087.hp2 NA18747.hp1 NA19087.hp2	a0005 a0005	a0005c0009 a0005c0016 a0005c0009 a0005c0016	a0005c0009t0001 a0005c0016t0001 a0005c0009t0001 a0005c0016t0001	a0005c0009t0001g0058 a0005c0016t0001g0111 a0005c0009t0001g0058 a0005c0016t0001g0111	2	370	0.0054	0	c.355 others(3): Show c.355T>C	p.Cys others(6): Show p.Cys119Arg	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	6/17	842/5072	355/1674	119/557		chr12	TogoVar
CAPS2_chr12_75270979_75335324	75321574	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03017.hp1 HG03491.hp1 HG03017.hp1 HG03491.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0026 a0006c0005t0002g0026	2	370	0.0054	0	c.180 others(3): Show c.180T>A	p.Asp others(5): Show p.Asp60Glu	CAPS2	ENSG00000180881.21	transcript	ENST00000699294.1	protein_coding	5/17	667/5072	180/1674	60/557		chr12	TogoVar
CAPS_chr19_5909254_5921211	5914940	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp2 HG01891.hp1 HG02280.hp2 others(4): Show HG00741.hp2 HG01891.hp1 HG02280.hp2 HG02896.hp2 HG03041.hp2 HG03209.hp2 NA19240.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	7	396	0.0177	0	c.262 others(3): Show c.262C>A	p.Pro others(5): Show p.Pro88Thr	CAPS	ENSG00000105519.18	transcript	ENST00000588776.8	protein_coding	4/5	340/1537	262/570	88/189		chr19	TogoVar
CAPZA1_chr1_112614832_112676616	112653585	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00673.hp2 HG02015.hp1 others(39): Show HG00438.hp1 HG00673.hp2 HG02015.hp1 HG02080.hp2 HG02145.hp1 HG02698.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18972.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA19009.hp2 NA19011.hp2 NA19058.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19078.hp2 NA19080.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0003t0009	a0001c0001t0001g0038 a0001c0001t0002g0230 a0001c0001t0005g0004 others(37): Show a0001c0001t0001g0038 a0001c0001t0002g0230 a0001c0001t0005g0004 a0001c0001t0005g0264 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0285 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0011g0295 a0001c0001t0011g0296 a0001c0001t0012g0344 a0001c0003t0009g0255 a0001c0003t0009g0256 a0001c0003t0009g0257 a0001c0003t0009g0258 a0001c0003t0009g0259 a0001c0003t0009g0260	42	368	0.1141	1	c.156 others(6): Show c.156-4dupA		CAPZA1	ENSG00000116489.13	transcript	ENST00000263168.4	protein_coding	3/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPZA2_chr7_116857587_116927049	116916043	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 HG02572.hp1 HG02717.hp2 others(4): Show HG01496.hp1 HG02572.hp1 HG02717.hp2 HG02723.hp2 HG03195.hp2 HG03225.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0003 a0001c0002t0005 a0001c0001t0035 a0001c0002t0003 a0001c0002t0005	a0001c0001t0035g0100 a0001c0002t0003g0336 a0001c0002t0003g0337 others(4): Show a0001c0001t0035g0100 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0003g0338 a0001c0002t0003g0339 a0001c0002t0003g0341 a0001c0002t0005g0099	7	354	0.0198	1	c.658 others(6): Show c.658-4dupT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	8/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CAPZA2_chr7_116857587_116927049	116916043	GT GT	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02809.hp2 HG02922.hp1 others(4): Show HG02630.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03486.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0204 a0001c0001t0007g0109 a0001c0001t0007g0112 others(4): Show a0001c0001t0001g0204 a0001c0001t0007g0109 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0270	7	354	0.0198	-1	c.658 others(6): Show c.658-4delT		CAPZA2	ENSG00000198898.16	transcript	ENST00000361183.8	protein_coding	8/9				INFO_REALIGN_3_PRIME	chr7	TogoVar
CARD10_chr22_37485362_37524415	37502604	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0001 a0002c0038t0001	a0002c0038t0001g0074 a0002c0038t0001g0074	1	276	0.0036	0	c.178 others(4): Show c.1785C>T	p.Asn others(6): Show p.Asn595Asn	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	11/20	2000/4111	1785/3099	595/1032		chr22	TogoVar
CARD10_chr22_37485362_37524415	37504636	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00738.hp2 HG01074.hp2 HG01106.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0003 a0005c0017t0003	a0005c0017t0003g0002 a0005c0017t0003g0013 a0005c0017t0003g0002 a0005c0017t0003g0013	3	276	0.0109	0	c.151 others(4): Show c.1517C>T	p.Ser others(6): Show p.Ser506Leu	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	8/20	1732/4111	1517/3099	506/1032		chr22	TogoVar
CARD10_chr22_37485362_37524415	37504775	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18939.hp1 NA18957.hp1 NA18969.hp2 others(2): Show NA18939.hp1 NA18957.hp1 NA18969.hp2 NA18980.hp2 NA19056.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0010 a0003c0005t0001g0213 a0003c0005t0001g0215 others(1): Show a0003c0005t0001g0010 a0003c0005t0001g0213 a0003c0005t0001g0215 a0003c0005t0001g0237	5	276	0.0181	0	c.138 others(6): Show c.1384-6T>G		CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	7/19					chr22	TogoVar
CARD10_chr22_37485362_37524415	37506185	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0234 a0001c0003t0001g0234	1	276	0.0036	0	c.138 others(6): Show c.1383+7G>A		CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	7/19					chr22	TogoVar
CARD10_chr22_37485362_37524415	37508521	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0077 a0002c0001t0001g0077	1	276	0.0036	0	c.106 others(6): Show c.1065+6G>T		CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	5/19					chr22	TogoVar
CARD10_chr22_37485362_37524415	37508688	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0181 a0001c0026t0001g0181	1	276	0.0036	0	c.910 others(5): Show c.910-6C>T		CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19					chr22	TogoVar
CARD11_chr7_2901142_3048867	2913280	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	322	0.0031	0	c.301 others(6): Show c.3019+7G>A		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	22/24					chr7	TogoVar
CARD11_chr7_2901142_3048867	2917284	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG00639.hp2 HG00735.hp2 others(50): Show HG00621.hp1 HG00639.hp2 HG00735.hp2 HG01099.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02132.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03540.hp2 HG03710.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18951.hp2 NA18953.hp2 NA18971.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18995.hp2 NA19004.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp1 NA19079.hp1 NA19084.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0004 a0001c0006 a0001c0010 others(10): Show a0001c0004 a0001c0006 a0001c0010 a0001c0014 a0001c0016 a0001c0023 a0001c0024 a0001c0029 a0001c0042 a0001c0043 a0001c0066 a0002c0036 a0011c0053	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(13): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0006t0004 a0001c0006t0005 a0001c0010t0002 a0001c0014t0001 a0001c0016t0002 a0001c0023t0001 a0001c0024t0001 a0001c0029t0001 a0001c0042t0001 a0001c0043t0001 a0001c0066t0001 a0002c0036t0006 a0011c0053t0001	a0001c0004t0001g0022 a0001c0004t0001g0028 a0001c0004t0001g0037 others(50): Show a0001c0004t0001g0022 a0001c0004t0001g0028 a0001c0004t0001g0037 a0001c0004t0001g0043 a0001c0004t0001g0067 a0001c0004t0001g0070 a0001c0004t0001g0111 a0001c0004t0001g0142 a0001c0004t0001g0151 a0001c0004t0001g0173 a0001c0004t0001g0192 a0001c0004t0001g0202 a0001c0004t0001g0226 a0001c0004t0001g0239 a0001c0004t0001g0245 a0001c0004t0001g0254 a0001c0004t0001g0257 a0001c0004t0001g0282 a0001c0004t0001g0292 a0001c0004t0001g0304 a0001c0004t0002g0023 a0001c0004t0002g0195 a0001c0004t0002g0258 a0001c0004t0002g0293 a0001c0006t0001g0095 a0001c0006t0001g0128 a0001c0006t0001g0190 a0001c0006t0001g0191 a0001c0006t0001g0259 a0001c0006t0001g0266 a0001c0006t0001g0268 a0001c0006t0004g0305 a0001c0006t0005g0001 a0001c0010t0002g0034 a0001c0010t0002g0059 a0001c0010t0002g0097 a0001c0010t0002g0188 a0001c0010t0002g0283 a0001c0010t0002g0311 a0001c0014t0001g0098 a0001c0014t0001g0114 a0001c0014t0001g0273 a0001c0016t0002g0172 a0001c0023t0001g0105 a0001c0023t0001g0179 a0001c0024t0001g0211 a0001c0024t0001g0237 a0001c0029t0001g0300 a0001c0042t0001g0057 a0001c0043t0001g0030 a0001c0066t0001g0264 a0002c0036t0006g0002 a0011c0053t0001g0287	53	322	0.1646	0	c.270 others(6): Show c.2703+6G>T		CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	20/24					chr7	TogoVar
CARD11_chr7_2901142_3048867	2939926	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0312 a0001c0067t0001g0312	1	322	0.0031	0	c.687 others(3): Show c.687C>T	p.Ile others(6): Show p.Ile229Ile	CARD11	ENSG00000198286.11	transcript	ENST00000396946.9	protein_coding	6/25	1013/4287	687/3465	229/1154		chr7	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp2 HG00621.hp2 HG01109.hp2 others(13): Show HG00609.hp2 HG00621.hp2 HG01109.hp2 HG01891.hp2 HG02015.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02717.hp2 HG02886.hp2 HG02896.hp2 HG03471.hp1 NA18948.hp2 NA18991.hp2 NA18993.hp1 NA19067.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0012 a0001c0023 others(7): Show a0001c0001 a0001c0012 a0001c0023 a0001c0064 a0002c0002 a0002c0045 a0003c0010 a0003c0016 a0005c0014 a0006c0009	a0001c0001t0002 a0001c0001t0005 a0001c0012t0001 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0012t0001 a0001c0023t0012 a0001c0064t0015 a0002c0002t0001 a0002c0045t0007 a0003c0010t0005 a0003c0016t0002 a0005c0014t0002 a0006c0009t0001	a0001c0001t0002g0157 a0001c0001t0002g0167 a0001c0001t0002g0205 others(13): Show a0001c0001t0002g0157 a0001c0001t0002g0167 a0001c0001t0002g0205 a0001c0001t0002g0240 a0001c0001t0002g0346 a0001c0001t0005g0062 a0001c0012t0001g0241 a0001c0012t0001g0250 a0001c0023t0012g0057 a0001c0064t0015g0242 a0002c0002t0001g0175 a0002c0045t0007g0056 a0003c0010t0005g0086 a0003c0016t0002g0207 a0005c0014t0002g0206 a0006c0009t0001g0347	16	376	0.0426	1	c.-68 others(7): Show c.-689-8dupT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp2 HG02809.hp2 HG01496.hp2 HG02809.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0011 a0001c0024t0011	a0001c0024t0011g0360 a0001c0024t0011g0362 a0001c0024t0011g0360 a0001c0024t0011g0362	2	376	0.0053	10	c.-68 others(24): Show c.-689-17_-689-8dupTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01074.hp2 HG01884.hp2 NA18960.hp1 HG01074.hp2 HG01884.hp2 NA18960.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0024 a0003c0013 a0005c0004 a0001c0024 a0003c0013 a0005c0004	a0001c0024t0011 a0003c0013t0002 a0005c0004t0001 a0001c0024t0011 a0003c0013t0002 a0005c0004t0001	a0001c0024t0011g0361 a0003c0013t0002g0303 a0005c0004t0001g0312 a0001c0024t0011g0361 a0003c0013t0002g0303 a0005c0004t0001g0312	3	376	0.0080	11	c.-68 others(25): Show c.-689-18_-689-8dupTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
CARD14_chr17_80165030_80214331	80172872	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp2 HG01071.hp1 HG01071.hp2 others(11): Show HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01346.hp1 HG01515.hp1 HG01993.hp1 HG02165.hp1 HG02698.hp1 HG03654.hp2 HG03834.hp1 NA18983.hp2 NA20129.hp1 NA21309.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0008	a0001c0007 a0001c0051 a0001c0069 others(5): Show a0001c0007 a0001c0051 a0001c0069 a0003c0013 a0004c0008 a0004c0052 a0005c0004 a0008c0018	a0001c0007t0002 a0001c0051t0001 a0001c0069t0002 others(5): Show a0001c0007t0002 a0001c0051t0001 a0001c0069t0002 a0003c0013t0002 a0004c0008t0001 a0004c0052t0001 a0005c0004t0001 a0008c0018t0001	a0001c0007t0002g0007 a0001c0007t0002g0325 a0001c0007t0002g0329 others(10): Show a0001c0007t0002g0007 a0001c0007t0002g0325 a0001c0007t0002g0329 a0001c0051t0001g0351 a0001c0069t0002g0326 a0003c0013t0002g0304 a0003c0013t0002g0313 a0003c0013t0002g0314 a0003c0013t0002g0324 a0004c0008t0001g0328 a0004c0052t0001g0352 a0005c0004t0001g0327 a0008c0018t0001g0290	14	376	0.0372	12	c.-68 others(26): Show c.-689-19_-689-8dupTTTTTTTTTTTT		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	1/23				INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)