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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN14_chr2_31168056_31222515 | 31211671 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02622.hp2 HG02630.hp2 others(8): Show |
a0001a0012a0020others(2): Show | a0001c0001a0001c0003a0012c0019others(3): Show | a0001c0001t0007a0001c0003t0003a0001c0003t0013others(4): Show | a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0003t0003g0229 others(7): Show |
11 | 47 | 0.2340 | 8 | c.-53 others(25): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 551153 | G | GTCCCCTG others(1): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001a0004a0008 | a0001c0001a0004c0018a0008c0024 | a0001c0001t0001a0004c0018t0001a0008c0024t0001others(1): Show | a0001c0001t0001g0388 a0004c0018t0001g0273 a0008c0024t0001g0386 others(1): Show |
4 | 407 | 0.0098 | 8 | c.206 others(25): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223719831 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18961.hp1 NA20300.hp1 others(1): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0002a0001c0010t0003 | a0001c0003t0002g0317 a0001c0010t0003g0003 a0001c0010t0003g0313 |
4 | 356 | 0.0112 | 8 | c.307 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223720315 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03209.hp1 HG04199.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(1): Show | a0001c0002t0001g0082 a0001c0002t0001g0097 a0001c0002t0003g0084 others(3): Show |
6 | 50 | 0.1200 | 8 | c.307 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223758689 | C | CCTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 HG02155.hp1 others(11): Show |
a0005a0009a0010 | a0005c0008a0009c0019a0009c0034others(1): Show | a0005c0008t0004a0009c0019t0004a0009c0034t0004others(1): Show | a0005c0008t0004g0010 a0005c0008t0004g0102 a0005c0008t0004g0108 others(10): Show |
14 | 299 | 0.0468 | 8 | c.131 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 11/20 | chr1 | TogoVar | |||||||
CAPN3_chr15_42354501_42417317 | 42374986 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18984.hp2 NA19077.hp2 |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0028 | a0001c0001t0001a0002c0002t0001a0015c0028t0001 | a0001c0001t0001g0159 a0002c0002t0001g0058 a0015c0028t0001g0082 |
3 | 100 | 0.0300 | 8 | c.310 others(25): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77067632 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01167.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0019a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 others(27): Show |
30 | 116 | 0.2586 | 8 | c.-36 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77068889 | T | TAAGTTGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(2): Show | a0001c0001t0029g0361 a0001c0001t0051g0363 a0001c0001t0052g0362 others(2): Show |
5 | 380 | 0.0132 | 8 | c.-36 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77079783 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0101 a0001c0001t0001g0116 a0001c0001t0001g0133 others(14): Show |
17 | 152 | 0.1118 | 8 | c.-35 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77125614 | C | CTATATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01952.hp1 HG02300.hp2 NA18980.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0025a0001c0001t0058a0004c0005t0040 | a0001c0001t0025g0110 a0001c0001t0025g0242 a0001c0001t0058g0047 others(1): Show |
4 | 204 | 0.0196 | 8 | c.*17 others(19): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77125639 | T | TATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG03098.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0162 a0001c0001t0020g0163 a0001c0001t0020g0165 |
3 | 379 | 0.0079 | 8 | c.*17 others(19): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230757011 | T | TGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01074.hp1 HG01433.hp2 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0088 a0001c0002t0001g0004 a0001c0002t0001g0162 others(11): Show |
14 | 303 | 0.0462 | 8 | c.283 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230765212 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02615.hp1 HG03209.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0097 a0003c0004t0001g0094 a0003c0004t0001g0108 others(2): Show |
5 | 98 | 0.0510 | 8 | c.537 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230774723 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01168.hp1 others(33): Show |
a0001a0005a0012others(2): Show | a0001c0005a0005c0035a0012c0020others(2): Show | a0001c0005t0001a0005c0035t0001a0012c0020t0001others(2): Show | a0001c0005t0001g0023 a0001c0005t0001g0047 a0001c0005t0001g0049 others(32): Show |
36 | 391 | 0.0921 | 8 | c.953 others(23): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN9_chr1_230742388_230806989 | 230800231 | G | GAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01981.hp2 HG02027.hp1 others(13): Show |
a0001a0005a0011 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0187 a0001c0001t0001g0189 others(13): Show |
16 | 289 | 0.0554 | 8 | c.204 others(27): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPNS1_chr19_36135066_36155353 | 36138003 | A | AATTTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(160): Show |
a0001a0004a0006 | a0001c0001a0001c0005a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(90): Show |
163 | 478 | 0.3410 | 8 | c.-21 others(19): Show |
CAPNS1 | ENSG00000126247.11 | transcript | ENST00000246533.8 | protein_coding | 2062 | chr19 | TogoVar | |||||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | AATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02080.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(6): Show |
13 | 308 | 0.0422 | 8 | c.-32 others(19): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291567 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02895.hp1 HG03516.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0019 | a0001c0001t0001g0045 a0001c0001t0002g0221 a0001c0001t0002g0235 others(1): Show |
4 | 174 | 0.0230 | 8 | c.112 others(25): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPS2_chr12_75270979_75335324 | 75291598 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18951.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 a0001c0001t0002g0243 |
3 | 360 | 0.0083 | 8 | c.112 others(25): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112617715 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 NA18948.hp1 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 a0001c0001t0001g0055 a0001c0001t0001g0057 others(1): Show |
4 | 289 | 0.0138 | 8 | c.-21 others(19): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 2116 | chr1 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112656466 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02132.hp1 HG03710.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0032 others(10): Show |
14 | 262 | 0.0534 | 8 | c.426 others(25): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116859874 | T | TTTTCTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0005 | a0001c0001t0001g0224 a0001c0001t0001g0240 a0001c0001t0001g0341 others(3): Show |
6 | 133 | 0.0451 | 8 | c.-27 others(19): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2712 | chr7 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01358.hp2 HG02071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0243 a0001c0001t0001g0261 a0001c0001t0001g0285 others(12): Show |
16 | 19 | 0.8421 | 8 | c.40- others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116901881 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(13): Show | a0001c0001t0001g0120 a0001c0001t0001g0200 a0001c0001t0001g0201 others(82): Show |
87 | 182 | 0.4780 | 8 | c.220 others(25): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116901881 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02258.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0001t0001g0323 a0001c0002t0003g0023 a0001c0002t0003g0046 others(19): Show |
22 | 117 | 0.1880 | 8 | c.220 others(25): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116903233 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0036 | a0001c0001t0001g0292 a0001c0001t0002g0166 a0001c0001t0036g0287 |
3 | 175 | 0.0171 | 8 | c.220 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0003a0001c0002t0006others(4): Show | a0001c0001t0032g0106 a0001c0002t0003g0002 a0001c0002t0003g0021 others(54): Show |
58 | 279 | 0.2079 | 8 | c.426 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116914432 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02071.hp1 HG02293.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0035a0001c0002t0004others(1): Show | a0001c0001t0010g0175 a0001c0001t0035g0103 a0001c0002t0004g0298 others(9): Show |
12 | 77 | 0.1558 | 8 | c.658 others(25): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116925513 | A | AATAGGTA others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036a0001c0001t0037 | a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 others(3): Show |
6 | 352 | 0.0170 | 8 | c.*76 others(19): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 3465 | chr7 | TogoVar | |||||||
CAPZA3_chr12_18733119_18744188 | 18736583 | A | AAATTTGA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(180): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0007t0001g0000 others(3): Show |
183 | 390 | 0.4692 | 8 | c.-16 others(19): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 1535 | chr12 | TogoVar | |||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00738.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 15 | 32 | 0.4688 | 8 | c.*29 others(19): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19383446 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 NA18955.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0361 a0001c0002t0003g0187 a0001c0002t0003g0188 others(4): Show |
7 | 79 | 0.0886 | 8 | c.215 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19442009 | C | CAAAACAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 others(63): Show |
66 | 156 | 0.4231 | 8 | c.4-2 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19469741 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0114 others(14): Show |
17 | 66 | 0.2576 | 8 | c.3+1 others(23): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37512465 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0022 | a0001c0003t0001a0002c0001t0004a0002c0001t0009others(1): Show | a0001c0003t0001g0156 a0002c0001t0004g0176 a0002c0001t0009g0125 others(2): Show |
5 | 75 | 0.0667 | 8 | c.700 others(25): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2912719 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02572.hp1 others(13): Show |
a0001 | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0005others(6): Show | a0001c0001t0001g0319 a0001c0006t0001g0128 a0001c0006t0001g0190 others(13): Show |
16 | 137 | 0.1168 | 8 | c.302 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2912758 | C | CCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp1 others(71): Show |
a0001a0006a0012others(2): Show | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(14): Show | a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0042 others(71): Show |
74 | 304 | 0.2434 | 8 | c.302 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920599 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01099.hp1 HG01258.hp1 others(7): Show |
a0001 | a0001c0004a0001c0006a0001c0010others(3): Show | a0001c0004t0001a0001c0004t0002a0001c0006t0001others(4): Show | a0001c0004t0001g0022 a0001c0004t0001g0070 a0001c0004t0001g0241 others(7): Show |
10 | 295 | 0.0339 | 8 | c.227 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920600 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00621.hp2 others(43): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(21): Show | a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0319 others(43): Show |
46 | 106 | 0.4340 | 8 | c.227 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920692 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(21): Show | a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0138 others(34): Show |
37 | 138 | 0.2681 | 8 | c.227 others(27): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2933658 | A | ATCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(17): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0103 a0001c0002t0001g0086 others(17): Show |
20 | 214 | 0.0935 | 8 | c.151 others(25): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2969413 | T | TTCACTCA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(55): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(20): Show | a0001c0001t0001g0042 a0001c0001t0001g0117 a0001c0001t0001g0158 others(55): Show |
58 | 307 | 0.1889 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2984500 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG01074.hp2 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0112 others(14): Show |
17 | 308 | 0.0552 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2998481 | T | TTGAGACC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0003a0014others(3): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(48): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0040 others(151): Show |
154 | 320 | 0.4813 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3008643 | T | TAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01934.hp2 others(20): Show |
a0001a0003a0013 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0103 a0001c0001t0001g0280 others(20): Show |
23 | 241 | 0.0954 | 8 | c.-12 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3047735 | A | AATACATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01884.hp1 others(13): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0280 a0001c0002t0001g0277 a0001c0003t0001g0272 others(13): Show |
16 | 166 | 0.0964 | 8 | c.-41 others(19): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 3869 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80171173 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01496.hp2 others(4): Show |
a0001a0005a0014 | a0001c0024a0001c0025a0005c0004others(1): Show | a0001c0024t0002a0001c0025t0004a0005c0004t0001others(1): Show | a0001c0024t0002g0353 a0001c0024t0002g0354 a0001c0024t0002g0355 others(4): Show |
7 | 255 | 0.0275 | 8 | c.-69 others(27): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171201 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01928.hp2 HG01975.hp2 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0006others(5): Show | a0001c0001t0002a0002c0002t0001a0003c0006t0002others(5): Show | a0001c0001t0002g0172 a0001c0001t0002g0173 a0002c0002t0001g0171 others(6): Show |
9 | 306 | 0.0294 | 8 | c.-69 others(27): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80197543 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0002c0002others(11): Show | a0001c0001t0002a0001c0012t0001a0002c0002t0001others(15): Show | a0001c0001t0002g0007 a0001c0001t0002g0175 a0001c0012t0001g0094 others(53): Show |
58 | 211 | 0.2749 | 8 | c.159 others(25): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD18_chr11_105132714_105144769 | 105135036 | G | GAACAAAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(203): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(9): Show |
206 | 284 | 0.7254 | 8 | c.*30 others(19): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 2677 | chr11 | TogoVar |