| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(389): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0008 | 1 | 123 | 0.0081 | 396 | c.-1- others(411): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
| ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(389): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 123 | 0.0081 | 396 | c.-1- others(411): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
| ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(389): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 123 | 0.0081 | 396 | c.-1- others(411): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(389): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 92 | 0.0109 | 396 | c.-37 others(407): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(389): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0066 | 1 | 57 | 0.0175 | 396 | c.62+ others(409): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| AK1_chr9_127861486_127882675 | 127882566 | G | GGAAAGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 15 | 0.0667 | 396 | c.-49 others(407): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 4892 | chr9 | TogoVar | |||||||
| AK1_chr9_127861486_127882675 | 127882566 | G | GGAAAGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG01993.hp1 HG02683.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0085 a0001c0001t0001g0124 others(7): Show |
13 | 27 | 0.4815 | 396 | c.-49 others(407): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 4892 | chr9 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(389): Show |
intron_variant | MODIFIER | NA19010.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0177 |
2 | 135 | 0.0148 | 396 | c.838 others(411): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60350011 | G | GAGGGGAA others(389): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 227 | 0.0044 | 396 | c.838 others(411): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60350015 | G | GGAAGGCA others(389): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 314 | 0.0032 | 396 | c.838 others(411): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60350029 | C | CAGGGGAA others(389): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 148 | 0.0068 | 396 | c.838 others(411): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(389): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0225 | 1 | 248 | 0.0040 | 396 | c.838 others(411): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
| AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(389): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 152 | 0.0066 | 396 | c.604 others(411): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 980298 | C | CTGCCCGG others(389): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18747.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015 | a0001c0001t0001g0061 a0001c0001t0005g0088 a0001c0001t0015g0062 |
3 | 154 | 0.0195 | 396 | c.604 others(411): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 980331 | C | CTGCCCGG others(389): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0120 a0001c0001t0007g0090 a0001c0001t0007g0091 others(1): Show |
4 | 248 | 0.0161 | 396 | c.604 others(411): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 980331 | C | CTGCCCGG others(389): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0040 | 1 | 245 | 0.0041 | 396 | c.604 others(411): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AP3D1_chr19_2095988_2156566 | 2128475 | C | CGCTCCGA others(389): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0283 | 1 | 284 | 0.0035 | 396 | c.806 others(411): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1849968 | C | CGTGGGCC others(389): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0053 | a0001c0003t0053g0153 | 1 | 352 | 0.0028 | 396 | c.37+ others(411): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1849974 | C | CCGGCTGC others(389): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0010 | a0010c0097 | a0010c0097t0017 | a0010c0097t0017g0259 | 1 | 352 | 0.0028 | 396 | c.37+ others(411): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1850057 | G | GTGGGCCG others(389): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0150 | 1 | 336 | 0.0030 | 396 | c.37+ others(411): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1860316 | G | GACCTTCC others(389): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0264 | 1 | 273 | 0.0037 | 396 | c.481 others(411): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ARHGEF7_chr13_111110310_111310732 | 111221356 | T | TATATATC others(389): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0194 | 1 | 148 | 0.0068 | 396 | c.670 others(413): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | HG02257.hp2 HG02280.hp1 HG03098.hp1 |
a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0010 | 3 | 5 | 0.6000 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp1 HG01109.hp1 HG01243.hp1 others(32): Show |
a0004a0005a0007others(3): Show | a0004c0005a0004c0011a0004c0042others(7): Show | a0004c0005t0001a0004c0005t0004a0004c0011t0004others(8): Show | a0004c0005t0001g0014 a0004c0005t0004g0005 a0004c0005t0004g0015 others(11): Show |
35 | 37 | 0.9459 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | NA18946.hp2 | a0032 | a0032c0037 | a0032c0037t0002 | a0032c0037t0002g0001 | 1 | 3 | 0.3333 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(389): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp1 HG02109.hp2 HG02257.hp1 others(8): Show |
a0006a0016a0025 | a0006c0004a0016c0014a0025c0024 | a0006c0004t0001a0016c0014t0001a0025c0024t0001 | a0006c0004t0001g0001 a0006c0004t0001g0006 a0016c0014t0001g0001 others(1): Show |
11 | 13 | 0.8462 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| ARMCX4_chrX_101480456_101500807 | 101494047 | G | GGGGTTGG others(389): Show |
disruptive_inframe_insertion | MODERATE | HG02922.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0023 | 1 | 324 | 0.0031 | 396 | c.546 others(405): Show |
p.Gly others(411): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
| ASAP1_chr8_130047104_130448674 | 130050153 | T | TACATGGG others(389): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 175 | 0.0057 | 396 | c.*45 others(407): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1950 | chr8 | TogoVar | |||||||
| ATP9B_chr18_79064394_79383283 | 79308975 | C | CCCAGCAG others(389): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0265 | 1 | 273 | 0.0037 | 396 | c.177 others(415): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79309035 | T | TGAGGAGT others(389): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0154 | 1 | 237 | 0.0042 | 396 | c.177 others(415): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| BCL2L1_chr20_31659458_31727868 | 31689270 | G | GGGAAGGG others(389): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 | 1 | 4 | 0.2500 | 396 | c.565 others(415): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
| BCL2L1_chr20_31659458_31727868 | 31689270 | G | GGGAAGGG others(389): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 4 | 0.2500 | 396 | c.565 others(415): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
| BCL2L1_chr20_31659458_31727868 | 31689270 | G | GGGAAGGG others(389): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 4 | 0.2500 | 396 | c.565 others(415): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
| BRSK2_chr11_1384934_1467689 | 1396185 | T | TCTCTTCC others(389): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0279 | 1 | 111 | 0.0090 | 396 | c.91+ others(411): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(389): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0114 |
3 | 57 | 0.0526 | 396 | c.*21 others(411): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(389): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03225.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0018 a0001c0001t0008g0040 a0001c0001t0012g0039 |
4 | 58 | 0.0690 | 396 | c.*21 others(411): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
| C1QTNF12_chr1_1237453_1251722 | 1248971 | G | GCGAGGGA others(389): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 270 | 0.0037 | 396 | c.-22 others(407): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2250 | chr1 | TogoVar | |||||||
| C1QTNF12_chr1_1237453_1251722 | 1249037 | G | GCGAGGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 79 | 0.0127 | 396 | c.-23 others(407): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2316 | chr1 | TogoVar | |||||||
| C1QTNF12_chr1_1237453_1251722 | 1249037 | G | GCGAGGGA others(389): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(47): Show |
a0001a0013 | a0001c0001a0013c0017 | a0001c0001t0001a0013c0017t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(10): Show |
50 | 128 | 0.3906 | 396 | c.-23 others(407): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 2316 | chr1 | TogoVar | |||||||
| C2CD4C_chr19_400445_414147 | 404308 | G | GGGGTGTG others(389): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0163 | 1 | 312 | 0.0032 | 396 | c.*27 others(407): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1136 | chr19 | TogoVar | |||||||
| C2orf80_chr2_208160347_208195030 | 208176938 | T | TAGGTGTA others(389): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 others(2): Show |
5 | 237 | 0.0211 | 396 | c.366 others(413): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
| C4orf50_chr4_5954375_6023431 | 6004065 | G | GGTGATAG others(389): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03471.hp1 others(1): Show |
a0001a0022a0036 | a0001c0001a0022c0022a0036c0039 | a0001c0001t0001a0022c0022t0001a0036c0039t0001 | a0001c0001t0001g0158 a0001c0001t0001g0281 a0022c0022t0001g0068 others(1): Show |
4 | 344 | 0.0116 | 396 | c.963 others(413): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
| C4orf50_chr4_5954375_6023431 | 6004577 | G | GATATTGA others(389): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03225.hp1 NA19043.hp2 |
a0021a0039a0081 | a0021c0024a0039c0025a0081c0069 | a0021c0024t0001a0039c0025t0001a0081c0069t0001 | a0021c0024t0001g0205 a0039c0025t0001g0206 a0081c0069t0001g0325 |
3 | 338 | 0.0089 | 396 | c.963 others(413): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
| CACNA2D3_chr3_54117552_55079557 | 54970449 | C | CCTCCTCC others(389): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 116 | 0.0086 | 396 | c.255 others(413): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CACNA2D3_chr3_54117552_55079557 | 54970467 | G | GTTCCTCA others(389): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 3 | 0.3333 | 396 | c.255 others(413): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CACNG2_chr22_36555857_36708752 | 36680096 | G | GGATCACT others(389): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0208 | 1 | 167 | 0.0060 | 396 | c.211 others(415): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 1/3 | chr22 | TogoVar | |||||||
| CACNG6_chr19_53986637_54017666 | 53990790 | C | CCCCAGGC others(389): Show |
upstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0256 | 1 | 426 | 0.0023 | 396 | c.-20 others(407): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 846 | chr19 | TogoVar | |||||||
| CACNG8_chr19_53957937_53995215 | 53990710 | T | TCCAGGCC others(389): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0185 | 1 | 137 | 0.0073 | 396 | c.*78 others(407): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 496 | chr19 | TogoVar | |||||||
| CAMK1D_chr10_12344547_12840545 | 12775616 | T | TTGATCAG others(389): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0035 | 1 | 213 | 0.0047 | 396 | c.565 others(413): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(389): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0141 | 1 | 259 | 0.0039 | 396 | c.907 others(411): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar |