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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAP2_chr6_17388595_17562780 | 17436086 | T | TTTCTTTC others(13): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 206 | 0.0049 | 20 | c.222 others(37): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17461992 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 206 | 0.0049 | 20 | c.223 others(35): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAP2_chr6_17388595_17562780 | 17500340 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02071.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0174others(4): Show | 7 | 206 | 0.0340 | 20 | c.301 others(37): Show |
CAP2 | ENSG00000112186.13 | transcript | ENST00000229922.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPG_chr2_85389753_85415366 | 85397704 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01168.hp1 |
a0001a0003 | a0001c0003a0003c0008 | a0001c0003t0001a0003c0008t0001 | a0001c0003t0001g0148a0003c0008t0001g0076 | 2 | 410 | 0.0049 | 20 | c.892 others(35): Show |
CAPG | ENSG00000042493.16 | transcript | ENST00000263867.9 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735772 | C | CGGGGCGG others(13): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735793 | G | GGGGCGGG others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0076 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735794 | G | GGGCGGGG others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0073 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735842 | C | CGGGGCGG others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03139.hp1 NA18959.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0080a0001c0002t0002g0156a0002c0004t0001g0076 | 3 | 342 | 0.0088 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735843 | G | GGGGCGGG others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0261 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735843 | G | GGGGCGGG others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0019 | a0006c0019t0003 | a0006c0019t0003g0273 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735872 | C | CGGGGCGG others(13): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735878 | G | GGGGCGGG others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0203a0001c0003t0002g0218 | 2 | 342 | 0.0059 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735883 | G | GGGGCGGG others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01106.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0020others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0006t0001others(2): Show | a0001c0001t0001g0083a0001c0001t0001g0084a0001c0001t0001g0106others(7): Show | 10 | 342 | 0.0292 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735912 | C | CGGGGCGG others(13): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0180 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735962 | G | GCGGGCGG others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03041.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0066a0002c0004t0001g0069 | 2 | 342 | 0.0059 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735962 | G | GGGGGCGG others(13): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0135 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735972 | C | CGGGGCGG others(13): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0256 | 1 | 342 | 0.0029 | 20 | c.158 others(37): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30768678 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0134a0001c0001t0001g0140a0001c0001t0001g0141others(8): Show | 11 | 384 | 0.0287 | 20 | c.524 others(37): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30800116 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02145.hp1 HG02698.hp1 others(5): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0058a0001c0001t0002g0068a0001c0001t0002g0272others(5): Show | 8 | 384 | 0.0208 | 20 | c.-33 others(37): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31179060 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0279 | 1 | 326 | 0.0031 | 20 | c.171 others(37): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 17/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181386 | T | TTCTCTTT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02886.hp2 NA19054.hp1 |
a0005a0007 | a0005c0034a0007c0009 | a0005c0034t0014a0007c0009t0003a0007c0009t0006 | a0005c0034t0014g0099a0007c0009t0003g0162a0007c0009t0006g0153 | 3 | 326 | 0.0092 | 20 | c.164 others(37): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31210460 | C | CATAAAAT others(13): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02257.hp2 HG02965.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0004a0002c0002t0012a0002c0004t0009others(6): Show | a0001c0001t0004g0136a0002c0002t0012g0281a0002c0002t0012g0282others(13): Show | 16 | 326 | 0.0491 | 20 | c.-52 others(37): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
CAPN1_chr11_65176928_65217006 | 65215891 | T | TGAGTGAG others(13): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0045 | 1 | 394 | 0.0025 | 20 | c.*46 others(31): Show |
CAPN1 | ENSG00000014216.16 | transcript | ENST00000279247.11 | protein_coding | 3886 | chr11 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223709661 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0015 | a0015c0041 | a0015c0041t0001 | a0015c0041t0001g0347 | 1 | 378 | 0.0027 | 20 | c.-29 others(31): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2877 | chr1 | TogoVar | ||||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03491.hp1 HG03492.hp1 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0007a0004c0007t0001g0265 | 3 | 306 | 0.0098 | 20 | c.310 others(37): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42380751 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0203 | 1 | 306 | 0.0033 | 20 | c.310 others(37): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77066910 | G | GCGGAGCC others(13): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0070 | 1 | 382 | 0.0026 | 20 | c.-22 others(29): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 60 | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77067632 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 382 | 0.0026 | 20 | c.-36 others(35): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230761555 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0016 | a0016c0030 | a0016c0030t0002 | a0016c0030t0002g0093 | 1 | 394 | 0.0025 | 20 | c.403 others(37): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPRIN1_chr11_34046731_34107610 | 34099044 | T | TTTGTTGA others(13): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 246 | 0.0041 | 20 | c.206 others(37): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPRIN2_chr12_30704553_30759951 | 30710761 | G | GTCTGAAC others(13): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 378 | 0.0027 | 20 | c.257 others(37): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 18/18 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919168 | A | ATTATATA others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0278 | 1 | 402 | 0.0025 | 20 | c.137 others(37): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 402 | 0.0025 | 20 | c.137 others(37): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116859874 | T | TTTTCTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 354 | 0.0028 | 20 | c.-27 others(31): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2712 | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116904969 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0336a0001c0002t0003g0337a0001c0002t0003g0339others(1): Show | 4 | 354 | 0.0113 | 20 | c.426 others(35): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCTCTCAC others(13): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01358.hp1 HG01515.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 17 | 392 | 0.0434 | 20 | c.*29 others(31): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZA3_chr12_18733119_18744188 | 18742167 | T | TCTCTCTC others(13): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 392 | 0.0051 | 20 | c.*29 others(31): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19333899 | C | CAAACAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 364 | 0.0028 | 20 | c.*56 others(31): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4875 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0356 | 2 | 364 | 0.0055 | 20 | c.330 others(37): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 364 | 0.0028 | 20 | c.93+ others(35): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0318 | 1 | 322 | 0.0031 | 20 | c.314 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2913168 | A | AGAGGGAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(96): Show |
a0001a0004a0007others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(23): Show | a0001c0001t0001g0013a0001c0001t0001g0036a0001c0001t0001g0073others(96): Show | 99 | 322 | 0.3075 | 20 | c.301 others(36): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2941539 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0298 | 1 | 322 | 0.0031 | 20 | c.685 others(37): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 5/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2970321 | C | CTCACTCA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0262 | 1 | 322 | 0.0031 | 20 | c.-12 others(41): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2984538 | T | TCCCTCCC others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01081.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(2): Show | a0001c0001t0001g0126a0001c0001t0004g0276a0001c0005t0001g0296others(4): Show | 7 | 322 | 0.0217 | 20 | c.-12 others(41): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3005009 | T | TATTTATA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01243.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0004a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0004g0106a0001c0004t0001g0304a0001c0005t0001g0007others(2): Show | 5 | 322 | 0.0155 | 20 | c.-12 others(41): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3008643 | T | TAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0093a0001c0001t0001g0321a0001c0002t0001g0019others(10): Show | 13 | 322 | 0.0404 | 20 | c.-12 others(41): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3008668 | A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0070 | 1 | 322 | 0.0031 | 20 | c.-12 others(41): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80165033 | C | CATTTTAT others(13): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01168.hp2 others(19): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0007a0001c0024others(10): Show | a0001c0001t0023a0001c0007t0002a0001c0024t0011others(11): Show | a0001c0001t0023g0043a0001c0007t0002g0013a0001c0007t0002g0330others(19): Show | 22 | 376 | 0.0585 | 20 | c.-57 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 4996 | chr17 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171173 | T | TCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0047 | 1 | 376 | 0.0027 | 20 | c.-69 others(39): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |