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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN15_chr16_522712_559636 | 551129 | T | TGGTGAGG others(9): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0131 | 1 | 374 | 0.0027 | 16 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551154 | C | CCCCGGTC others(9): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03209.hp2 |
a0003a0005 | a0003c0035a0005c0034 | a0003c0035t0004a0005c0034t0001 | a0003c0035t0004g0399 a0005c0034t0001g0398 |
2 | 379 | 0.0053 | 16 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 551171 | T | TCCCGGTC others(9): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0313 | 1 | 397 | 0.0025 | 16 | c.206 others(33): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551233 | G | GGGCCCCC others(9): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0072 | a0001c0001t0001a0001c0072t0004 | a0001c0001t0001g0389 a0001c0072t0004g0394 |
2 | 387 | 0.0052 | 16 | c.206 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 551258 | T | TGTCGGTG others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03195.hp1 others(3): Show |
a0004a0012 | a0004c0019a0004c0025a0004c0077others(1): Show | a0004c0019t0001a0004c0019t0007a0004c0025t0003others(2): Show | a0004c0019t0001g0284 a0004c0019t0007g0285 a0004c0025t0003g0277 others(3): Show |
6 | 406 | 0.0148 | 16 | c.206 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65216393 | A | ATGAGTGG others(9): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0221 | 1 | 384 | 0.0026 | 16 | c.*51 others(27): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 4388 | chr11 | TogoVar | |||||||
CAPN2_chr1_223707539_223781018 | 223746475 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0309 | 1 | 218 | 0.0046 | 16 | c.561 others(31): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 a0001c0001t0001g0279 |
2 | 260 | 0.0077 | 16 | c.310 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01123.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0108 a0001c0001t0001g0179 a0001c0001t0003g0107 others(6): Show |
9 | 95 | 0.0947 | 16 | c.-36 others(31): 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(9): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 136 | 0.0074 | 16 | c.-35 others(33): 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(9): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0097 | 1 | 201 | 0.0050 | 16 | c.*17 others(27): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15210596 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0052 a0001c0001t0010g0053 |
2 | 165 | 0.0121 | 16 | c.103 others(33): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | C | CAAAAAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0053 | 1 | 43 | 0.0233 | 16 | c.*43 others(27): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919168 | A | ATTATATA others(9): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0265 a0002c0002t0003g0268 a0002c0002t0003g0270 |
3 | 373 | 0.0080 | 16 | c.137 others(33): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | ATTATATA others(9): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 204 | 0.0049 | 16 | c.137 others(33): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(1): Show | a0001c0001t0001g0212 a0001c0001t0002g0131 a0001c0001t0002g0159 others(6): Show |
9 | 12 | 0.7500 | 16 | c.40- others(31): 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(9): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0344 | 1 | 96 | 0.0104 | 16 | c.220 others(33): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116903233 | A | AGAGTGTG others(9): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0289 | 1 | 173 | 0.0058 | 16 | c.220 others(31): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCACACAC others(9): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 20 | 0.1500 | 16 | c.*29 others(27): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | |||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCTCTCAC others(9): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01256.hp1 others(20): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0000 a0001c0009t0002g0000 |
23 | 40 | 0.5750 | 16 | c.*29 others(27): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATAAATA others(9): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 195 | 0.0051 | 16 | c.330 others(33): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0134 a0001c0001t0001g0152 a0001c0001t0001g0343 others(2): Show |
5 | 199 | 0.0251 | 16 | c.330 others(33): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACAC others(9): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01516.hp1 others(12): Show |
a0001a0011 | a0001c0001a0001c0008a0001c0011others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0082 others(12): Show |
15 | 111 | 0.1351 | 16 | c.314 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920600 | G | GTCTATCT others(9): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 61 | 0.0164 | 16 | c.227 others(34): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2920692 | C | CATCTATC others(9): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0096 | 1 | 102 | 0.0098 | 16 | c.227 others(35): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2941539 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0008a0001c0017a0001c0018 | a0001c0008t0001a0001c0017t0001a0001c0018t0001 | a0001c0008t0001g0032 a0001c0008t0001g0275 a0001c0008t0001g0316 others(2): Show |
5 | 134 | 0.0373 | 16 | c.685 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 5/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2970318 | C | CTACTCAC others(9): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp1 HG03471.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0280 a0001c0003t0001g0004 a0001c0008t0001g0062 others(3): Show |
6 | 320 | 0.0188 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2970321 | C | CTCACTCA others(9): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(57): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0015others(21): Show | a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0117 others(57): Show |
60 | 313 | 0.1917 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2984508 | C | CCTCCCTC others(9): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0008a0001c0016 | a0001c0008t0001a0001c0016t0001 | a0001c0008t0001g0032 a0001c0008t0001g0033 a0001c0016t0001g0094 |
3 | 320 | 0.0094 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 2984538 | T | TCCCTCCC others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01261.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(5): Show | a0001c0001t0001g0102 a0001c0001t0001g0152 a0001c0001t0001g0157 others(10): Show |
13 | 279 | 0.0466 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3004562 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01261.hp2 others(11): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0200 a0001c0002t0001g0119 a0001c0003t0001g0005 others(11): Show |
14 | 176 | 0.0795 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3008643 | T | TAGGAAGG others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(33): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(14): Show | a0001c0001t0001g0040 a0001c0001t0001g0065 a0001c0001t0001g0102 others(33): Show |
36 | 254 | 0.1417 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3008668 | A | AGGAAGGA others(9): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02132.hp1 NA18952.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0015t0001others(1): Show | a0001c0001t0001g0203 a0001c0003t0001g0143 a0001c0003t0001g0238 others(2): Show |
5 | 225 | 0.0222 | 16 | c.-12 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0062 | 1 | 202 | 0.0050 | 16 | c.-12 others(35): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80170090 | G | GTCAGCCT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0012others(13): Show | a0001c0001t0002a0001c0001t0004a0001c0007t0002others(16): Show | a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0004g0030 others(25): Show |
28 | 374 | 0.0749 | 16 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171173 | T | TCCTCCCT others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp2 others(1): Show |
a0001a0004 | a0001c0021a0004c0031 | a0001c0021t0008a0004c0031t0008 | a0001c0021t0008g0047 a0001c0021t0008g0048 a0001c0021t0008g0049 others(1): Show |
4 | 252 | 0.0159 | 16 | c.-69 others(35): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171193 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0260 | 1 | 368 | 0.0027 | 16 | c.-69 others(35): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171205 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0041 | 1 | 125 | 0.0080 | 16 | c.-69 others(35): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80172872 | C | CTTTTTTT others(9): Show |
splice_region_variant others(1): Show |
LOW | HG02735.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0284 | 1 | 135 | 0.0074 | 16 | c.-68 others(30): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80183761 | T | TGCCCACA others(9): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0294 | 1 | 319 | 0.0031 | 16 | c.350 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARD18_chr11_105132714_105144769 | 105133383 | A | AAAATAAA others(9): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01261.hp2 HG01361.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
24 | 415 | 0.0578 | 16 | c.*47 others(27): Show |
CARD18 | ENSG00000255501.3 | transcript | ENST00000530950.2 | protein_coding | 4330 | chr11 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48207732 | C | CTGTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 NA19068.hp1 |
a0001 | a0001c0003 | a0001c0003t0007a0001c0003t0014 | a0001c0003t0007g0020 a0001c0003t0014g0067 |
2 | 274 | 0.0073 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 353 | chr19 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GGTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0161 | 1 | 182 | 0.0055 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0006 | 1 | 182 | 0.0055 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | |||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GTTTTTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02135.hp2 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0006 | a0001c0003t0003a0001c0003t0007a0001c0003t0016others(2): Show | a0001c0003t0003g0008 a0001c0003t0003g0106 a0001c0003t0007g0062 others(5): Show |
8 | 189 | 0.0423 | 16 | c.*39 others(27): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | |||||||
CARD9_chr9_136358956_136378669 | 136363745 | G | GGCCCTGC others(9): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 367 | 0.0027 | 16 | c.*55 others(25): Show |
CARD9 | ENSG00000187796.16 | transcript | ENST00000371732.10 | protein_coding | 210 | chr9 | TogoVar | |||||||
CARF_chr2_202907275_202993263 | 202943587 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02040.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0110 a0001c0001t0005g0145 a0001c0001t0007g0287 |
3 | 65 | 0.0462 | 16 | c.306 others(31): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202958247 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0243 | 1 | 327 | 0.0031 | 16 | c.642 others(33): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202958249 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(81): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(39): Show | a0001c0001t0002g0077 a0001c0001t0004g0010 a0001c0001t0004g0165 others(78): Show |
84 | 204 | 0.4118 | 16 | c.642 others(33): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202980616 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0048a0001c0001t0058 | a0001c0001t0003g0190 a0001c0001t0048g0166 a0001c0001t0058g0121 |
3 | 16 | 0.1875 | 16 | c.155 others(33): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |