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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACACAT others(7): Show |
intron_variant | MODIFIER | NA18972.hp2 NA19012.hp1 NA19030.hp1 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0001a0002c0002t0001a0009c0009t0001 | a0001c0001t0001g0193a0002c0002t0001g0120a0002c0002t0001g0263others(2): Show | 5 | 460 | 0.0109 | 14 | c.193 others(31): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44182257 | C | CTCACACA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02647.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0008a0001c0001t0001g0205a0001c0001t0001g0206others(2): Show | 6 | 460 | 0.0130 | 14 | c.193 others(31): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | chr6 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38736007 | C | CTCGGGGG others(7): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0264 | 1 | 342 | 0.0029 | 14 | c.158 others(31): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38742850 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0004 | a0001c0001t0006a0001c0011t0003a0002c0004t0001 | a0001c0001t0006g0257a0001c0011t0003g0262a0002c0004t0001g0070others(1): Show | 4 | 342 | 0.0117 | 14 | c.307 others(29): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 2/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38749044 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02647.hp2 HG03453.hp1 others(5): Show |
a0005a0006 | a0005c0007a0006c0009 | a0005c0007t0003a0006c0009t0003 | a0005c0007t0003g0265a0005c0007t0003g0266a0005c0007t0003g0267others(5): Show | 8 | 342 | 0.0234 | 14 | c.-48 others(25): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 4571 | chr19 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30733334 | T | TCTCCTGC others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(287): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0013others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0049others(285): Show | 290 | 384 | 0.7552 | 14 | c.179 others(31): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 19/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30805747 | C | CTTTATTT others(7): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0137 | 1 | 384 | 0.0026 | 14 | c.-33 others(31): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30805747 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01934.hp2 NA18612.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0246a0001c0001t0001g0260a0001c0001t0002g0249others(16): Show | 19 | 384 | 0.0495 | 14 | c.-33 others(31): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31181443 | T | TTTCTTTC others(7): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0212 | 1 | 326 | 0.0031 | 14 | c.164 others(31): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 16/21 | chr2 | TogoVar | ||||||
CAPN14_chr2_31168056_31222515 | 31190137 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01884.hp2 HG02615.hp2 others(6): Show |
a0002a0004a0006 | a0002c0002a0004c0006a0006c0007 | a0002c0002t0012a0004c0006t0005a0006c0007t0008 | a0002c0002t0012g0282a0004c0006t0005g0092a0006c0007t0008g0265others(6): Show | 9 | 326 | 0.0276 | 14 | c.128 others(31): Show |
CAPN14 | ENSG00000214711.10 | transcript | ENST00000403897.4 | protein_coding | 12/21 | chr2 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544687 | C | CCGTCGCC others(7): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 410 | 0.0024 | 14 | c.-22 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544746 | T | TCGTCGCC others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0213 | 1 | 410 | 0.0024 | 14 | c.-22 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544797 | T | TCTCCCCC others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0026 | 1 | 410 | 0.0024 | 14 | c.-22 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 551154 | C | CCCCGGTC others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG03195.hp1 others(3): Show |
a0004a0025 | a0004c0019a0004c0025a0004c0077others(1): Show | a0004c0019t0001a0004c0019t0007a0004c0025t0003others(2): Show | a0004c0019t0001g0285a0004c0019t0007g0286a0004c0025t0003g0278others(3): Show | 6 | 410 | 0.0146 | 14 | c.206 others(31): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223709661 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(7): Show |
a0003 | a0003c0011a0003c0012a0003c0046 | a0003c0011t0002a0003c0012t0002a0003c0046t0001 | a0003c0011t0002g0121a0003c0011t0002g0122a0003c0011t0002g0123others(7): Show | 10 | 378 | 0.0265 | 14 | c.-29 others(25): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2877 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223712873 | C | CCACGGTA others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0018 | a0018c0043 | a0018c0043t0002 | a0018c0043t0002g0167 | 1 | 378 | 0.0027 | 14 | c.235 others(24): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223719805 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18946.hp2 NA18955.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003 | a0001c0003t0001g0346a0001c0003t0001g0366a0001c0003t0001g0367others(2): Show | 5 | 378 | 0.0132 | 14 | c.307 others(31): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223719831 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0359 | 1 | 378 | 0.0027 | 14 | c.307 others(31): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03139.hp2 HG03486.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0002c0002t0001a0004c0007t0001 | a0001c0001t0001g0258a0001c0001t0001g0259a0001c0001t0001g0263others(5): Show | 8 | 306 | 0.0261 | 14 | c.310 others(31): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77062247 | G | GTGCTCGA others(7): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 382 | 0.0026 | 14 | c.-48 others(25): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 4723 | chr11 | TogoVar | ||||||
CAPN5_chr11_77061971_77131155 | 77067632 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01192.hp2 others(19): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0113a0001c0001t0001g0115a0001c0001t0001g0116others(19): Show | 22 | 382 | 0.0576 | 14 | c.-36 others(29): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15210596 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0220a0001c0001t0005g0275 | 2 | 376 | 0.0053 | 14 | c.103 others(31): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230765212 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0140 | 3 | 394 | 0.0076 | 14 | c.537 others(31): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230805074 | T | TGATATTA others(7): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02572.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0013a0003c0004others(2): Show | a0001c0002t0001a0002c0013t0001a0003c0004t0001others(2): Show | a0001c0002t0001g0027a0001c0002t0001g0108a0002c0013t0001g0028others(5): Show | 8 | 394 | 0.0203 | 14 | c.*34 others(25): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3086 | chr1 | TogoVar | ||||||
CAPRIN1_chr11_34046731_34107610 | 34103735 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 246 | 0.0041 | 14 | c.*43 others(25): Show |
CAPRIN1 | ENSG00000135387.21 | transcript | ENST00000341394.9 | protein_coding | 1126 | chr11 | TogoVar | ||||||
CAPS2_chr12_75270979_75335324 | 75291567 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 370 | 0.0027 | 14 | c.112 others(31): Show |
CAPS2 | ENSG00000180881.21 | transcript | ENST00000699294.1 | protein_coding | 13/16 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAATA others(7): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 402 | 0.0025 | 14 | c.137 others(31): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 NA18963.hp2 NA18977.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122a0001c0001t0002g0152a0001c0001t0002g0153others(2): Show | 5 | 354 | 0.0141 | 14 | c.40- others(29): 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(7): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0005 | a0001c0001t0033g0349a0001c0002t0005g0002a0001c0002t0005g0086others(4): Show | 8 | 354 | 0.0226 | 14 | c.220 others(31): 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(7): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01256.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0301a0001c0002t0004g0312a0001c0002t0004g0315others(1): Show | 4 | 354 | 0.0113 | 14 | c.426 others(29): 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(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 7 | 392 | 0.0179 | 14 | c.*29 others(25): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0016 | a0001c0001t0014g0283a0001c0001t0016g0347 | 2 | 364 | 0.0055 | 14 | c.330 others(31): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19416860 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0019 | a0001c0001t0001g0167a0001c0001t0007g0116a0001c0001t0019g0364 | 3 | 364 | 0.0082 | 14 | c.93+ others(29): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909504 | C | CCCTCCGC others(7): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0262 | 1 | 322 | 0.0031 | 14 | c.326 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(46): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(13): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0025others(46): Show | 49 | 322 | 0.1522 | 14 | c.314 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933722 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 322 | 0.0031 | 14 | c.151 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3004562 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp2 others(13): Show |
a0001a0011a0012 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0112a0001c0001t0001g0126others(13): Show | 16 | 322 | 0.0497 | 14 | c.-12 others(35): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3022935 | A | ATATTATA others(7): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0031 | 1 | 322 | 0.0031 | 14 | c.-12 others(35): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3040328 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0264 | 1 | 322 | 0.0031 | 14 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80172872 | C | CTTTTTTT others(7): Show |
splice_region_variant others(1): Show |
LOW | HG01081.hp2 HG01358.hp1 HG01361.hp2 others(5): Show |
a0001a0004a0018others(1): Show | a0001c0001a0001c0007a0004c0008others(2): Show | a0001c0001t0002a0001c0001t0023a0001c0007t0002others(3): Show | a0001c0001t0002g0339a0001c0001t0023g0043a0001c0007t0002g0340others(5): Show | 8 | 376 | 0.0213 | 14 | c.-68 others(28): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CARD8_chr19_48203086_48260912 | 48207732 | C | CTGTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0002c0012others(3): Show | a0001c0003t0005a0001c0003t0006a0001c0003t0014others(17): Show | a0001c0003t0005g0007a0001c0003t0005g0027a0001c0003t0005g0046others(50): Show | 54 | 362 | 0.1492 | 14 | c.*39 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 353 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48207734 | G | GTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0003 | a0001c0003t0047 | a0001c0003t0047g0095 | 1 | 362 | 0.0028 | 14 | c.*39 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 351 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48207735 | T | TTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0024 | a0001c0004t0003g0108a0001c0004t0024g0023a0001c0004t0024g0327 | 4 | 362 | 0.0111 | 14 | c.*39 others(25): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 350 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48252808 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01071.hp1 others(9): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0013others(2): Show | a0001c0002t0002a0001c0003t0003a0001c0003t0005others(7): Show | a0001c0002t0002g0145a0001c0003t0003g0137a0001c0003t0005g0139others(9): Show | 12 | 362 | 0.0332 | 14 | c.-25 others(33): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48252808 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0060 | a0001c0005t0060g0324 | 1 | 362 | 0.0028 | 14 | c.-25 others(33): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 1/13 | chr19 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202943587 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0005g0144a0001c0001t0006g0236a0001c0001t0007g0165others(3): Show | 6 | 334 | 0.0180 | 14 | c.306 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202958249 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG02148.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0026others(6): Show | a0001c0001t0002g0036a0001c0001t0002g0111a0001c0001t0005g0141others(8): Show | 11 | 334 | 0.0329 | 14 | c.642 others(31): 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(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG02148.hp2 others(8): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0002g0088a0001c0001t0006g0196a0001c0001t0008g0296others(8): Show | 11 | 334 | 0.0329 | 14 | c.155 others(31): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986868 | G | GTATGTAT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0009 | 1 | 334 | 0.0030 | 14 | c.*32 others(25): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3248 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CARHSP1_chr16_8847947_8874006 | 8851977 | C | CCTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 470 | 0.0021 | 14 | c.*31 others(25): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 969 | chr16 | TogoVar |