| 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
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VPS53_chr17_503668_719839 | 617797 | G | GTGCGCCA others(243): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0008others(1): Show | a0001c0002t0017a0001c0002t0050a0002c0003t0008others(26): Show | a0001c0002t0017g0225a0001c0002t0050g0049a0002c0003t0008g0180others(31): Show | 34 | 232 | 0.1466 | 250 | c.111 others(269): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 617826 | C | CGGGTAGC others(243): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(10): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0035a0001c0002t0038a0001c0002t0086others(10): Show | a0001c0002t0035g0219a0001c0002t0038g0224a0001c0002t0086g0221others(10): Show | 13 | 232 | 0.0560 | 250 | c.111 others(269): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
| VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(243): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0209 | 1 | 274 | 0.0037 | 250 | c.200 others(267): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| VSIG10L_chr19_51326541_51347139 | 51345864 | T | TGAACCCT others(243): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03486.hp2 |
a0000 | a0000c0003a0000c0005 | a0000c0003t0001a0000c0005t0001 | a0000c0003t0001g0003a0000c0005t0001g0102 | 3 | 452 | 0.0066 | 250 | c.-37 others(261): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 3726 | chr19 | TogoVar | ||||||
| WDPCP_chr2_63114559_63593477 | 63575461 | A | ATATACAC others(243): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0163 | 1 | 216 | 0.0046 | 250 | c.75+ others(267): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
| XYLT1_chr16_17096769_17475960 | 17470921 | C | CCGCCGCC others(243): Show |
5_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0036 | a0002c0036t0093 | a0002c0036t0093g0145 | 1 | 156 | 0.0064 | 250 | c.-12 others(259): Show |
XYLT1 | ENSG00000103489.12 | transcript | ENST00000261381.7 | protein_coding | 1/12 | 126 | chr16 | TogoVar | |||||
| XYLT1_chr16_17096769_17475960 | 17470921 | C | CCGCCGCC others(243): Show |
5_prime_UTR_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0041 | 1 | 156 | 0.0064 | 250 | c.-12 others(259): Show |
XYLT1 | ENSG00000103489.12 | transcript | ENST00000261381.7 | protein_coding | 1/12 | 126 | chr16 | TogoVar | |||||
| XYLT1_chr16_17096769_17475960 | 17470921 | C | CCGCCGCC others(243): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02922.hp1 |
a0002a0012 | a0002c0011a0002c0037a0012c0039 | a0002c0011t0019a0002c0037t0019a0012c0039t0073 | a0002c0011t0019g0116a0002c0037t0019g0118a0012c0039t0073g0117 | 3 | 156 | 0.0192 | 250 | c.-12 others(259): Show |
XYLT1 | ENSG00000103489.12 | transcript | ENST00000261381.7 | protein_coding | 1/12 | 126 | chr16 | TogoVar | |||||
| ZFR2_chr19_3799024_3874038 | 3820818 | C | CACACTAG others(243): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0332 | 1 | 398 | 0.0025 | 250 | c.163 others(267): Show |
ZFR2 | ENSG00000105278.12 | transcript | ENST00000262961.9 | protein_coding | 10/18 | chr19 | TogoVar | ||||||
| ZNF16_chr8_144925358_144955880 | 144946606 | T | TGGGCCCG others(243): Show |
intron_variant | MODIFIER | HG02300.hp1 HG03225.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040a0001c0002t0001g0175a0001c0002t0001g0304 | 3 | 404 | 0.0074 | 250 | c.-9- others(263): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
| ZNF182_chrX_47969851_48008989 | 47971480 | T | TGTATACG others(243): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG02080.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0071others(4): Show | 7 | 270 | 0.0259 | 250 | c.*46 others(261): Show |
ZNF182 | ENSG00000147118.12 | transcript | ENST00000376943.8 | protein_coding | 3370 | chrX | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62371309 | C | CATATATA others(243): Show |
upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 350 | 0.0029 | 250 | c.-31 others(261): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3059 | chr10 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62371309 | C | CATATATA others(243): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0098 | 1 | 350 | 0.0029 | 250 | c.-31 others(261): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3059 | chr10 | TogoVar | ||||||
| ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(243): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 460 | 0.0022 | 250 | c.-13 others(261): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | ||||||
| ZNF710_chr15_89996324_90087191 | 90008422 | G | GTATATAT others(243): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0013 | 1 | 282 | 0.0036 | 250 | c.-29 others(267): Show |
ZNF710 | ENSG00000140548.10 | transcript | ENST00000268154.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ZSCAN22_chr19_58321994_58347332 | 58326569 | G | GCCTCACA others(243): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 400 | 0.0050 | 250 | c.-59 others(259): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 424 | chr19 | TogoVar | ||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(243): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 400 | 0.0025 | 250 | c.532 others(265): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
| ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(243): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0137 | 1 | 400 | 0.0025 | 250 | c.532 others(265): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
| ADAP1_chr7_892900_959680 | 906188 | A | AGGAGAAG others(244): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 14 | 0.0714 | 251 | c.389 others(268): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(244): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0042 | a0001c0003t0042g0029 | 1 | 368 | 0.0027 | 251 | c.401 others(268): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(244): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0027 | 1 | 368 | 0.0027 | 251 | c.401 others(268): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(244): Show |
intron_variant | MODIFIER | HG00621.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181a0001c0001t0002g0185 | 2 | 368 | 0.0054 | 251 | c.401 others(268): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(244): Show |
intron_variant | MODIFIER | HG02257.hp2 NA20300.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0044 | a0001c0001t0011g0037a0001c0003t0044g0034 | 2 | 368 | 0.0054 | 251 | c.401 others(268): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133111685 | C | CCTCCCTC others(244): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0015 | 1 | 368 | 0.0027 | 251 | c.401 others(268): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(244): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0019 | a0019c0028 | a0019c0028t0041 | a0019c0028t0041g0260 | 1 | 262 | 0.0038 | 251 | c.775 others(266): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
| AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(244): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198 | 1 | 356 | 0.0028 | 251 | c.667 others(266): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
| AMFR_chr16_56356452_56430545 | 56406060 | G | GGGGGAGA others(244): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 356 | 0.0028 | 251 | c.667 others(266): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
| ANKRD55_chr5_56094680_56238330 | 56152167 | T | TAAAAACT others(244): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03490.hp2 |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0008a0002c0005t0001g0006 | 2 | 308 | 0.0065 | 251 | c.483 others(268): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 6/11 | chr5 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241218126 | G | GGGCGGGG others(244): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0110 | 1 | 396 | 0.0025 | 251 | c.217 others(268): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | chr2 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(244): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0136 | 1 | 342 | 0.0029 | 251 | c.*62 others(262): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(244): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 342 | 0.0029 | 251 | c.*62 others(262): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294172 | C | CGGGGGGA others(244): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 342 | 0.0029 | 251 | c.*62 others(262): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4383 | chr20 | TogoVar | ||||||
| ARFGAP1_chr20_63267813_63294790 | 63294179 | G | GAGGGGGA others(244): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 342 | 0.0029 | 251 | c.*63 others(262): Show |
ARFGAP1 | ENSG00000101199.13 | transcript | ENST00000370283.9 | protein_coding | 4390 | chr20 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144686882 | A | ACACTAGC others(244): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0189 | 1 | 246 | 0.0041 | 251 | c.-12 others(262): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1037 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCCGT others(244): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 246 | 0.0041 | 251 | c.-20 others(262): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144687993 | T | TGAGCACT others(244): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 246 | 0.0041 | 251 | c.-23 others(262): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 2148 | chr8 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144688011 | A | ATGACCAC others(244): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 246 | 0.0041 | 251 | c.-24 others(262): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 2166 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049629 | A | AGGAGAAC others(244): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0085a0002c0002t0001g0086 | 2 | 308 | 0.0065 | 251 | c.*51 others(262): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2474 | chr8 | TogoVar | ||||||
| ASCC3_chr6_100503194_100886329 | 100608731 | T | TTATATAT others(244): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0058 | 1 | 314 | 0.0032 | 251 | c.478 others(270): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50085971 | G | GATATATA others(244): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0024 | 1 | 254 | 0.0039 | 251 | c.29- others(268): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| ATP8B4_chr15_49853238_50124233 | 50085971 | G | GATATATA others(244): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0188 | 1 | 254 | 0.0039 | 251 | c.29- others(268): Show |
ATP8B4 | ENSG00000104043.15 | transcript | ENST00000284509.11 | protein_coding | 2/27 | chr15 | TogoVar | ||||||
| BAG3_chr10_119646380_119682819 | 119675887 | T | TCCTGCCC others(244): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 420 | 0.0024 | 251 | c.910 others(266): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| C22orf42_chr22_32144006_32164303 | 32145596 | T | TAATATAA others(244): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0053 | 1 | 398 | 0.0025 | 251 | c.*39 others(262): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3409 | chr22 | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 404610 | A | AACGGGGT others(244): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 251 | c.*24 others(262): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 834 | chr19 | TogoVar | ||||||
| C4orf50_chr4_5954375_6023431 | 6004539 | G | GTGATGAT others(244): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0083 | a0083c0105 | a0083c0105t0000 | a0083c0105t0000g0019 | 1 | 346 | 0.0029 | 251 | c.963 others(268): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
| CACNA1H_chr16_1148106_1226768 | 1204952 | G | GGGGCCCC others(244): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01109.hp1 others(2): Show |
a0002a0009 | a0002c0013a0009c0016 | a0002c0013t0001a0002c0013t0036a0009c0016t0013 | a0002c0013t0001g0170a0002c0013t0001g0175a0002c0013t0001g0176others(2): Show | 5 | 338 | 0.0148 | 251 | c.245 others(268): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 10/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(244): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0212 | 1 | 234 | 0.0043 | 251 | c.207 others(268): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | ||||||
| CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGTGGG others(244): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0088 | 1 | 234 | 0.0043 | 251 | c.207 others(268): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | ||||||
| CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(244): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0037 | 1 | 410 | 0.0024 | 251 | c.-22 others(268): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CASQ2_chr1_115695021_115773714 | 115761488 | G | GGGAAGGG others(244): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 364 | 0.0028 | 251 | c.234 others(268): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar |