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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN2_chr1_223707539_223781018 | 223719831 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 |
a0001a0002 | a0001c0003a0002c0016 | a0001c0003t0001a0002c0016t0001 | a0001c0003t0001g0356a0002c0016t0001g0374 | 2 | 378 | 0.0053 | 12 | c.307 others(29): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN2_chr1_223707539_223781018 | 223737721 | G | GGGGCGGG others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0021a0001c0002t0003g0023 | 2 | 378 | 0.0053 | 12 | c.308 others(29): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 2/20 | chr1 | TogoVar | ||||||
CAPN2_chr1_223707539_223781018 | 223746475 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG02257.hp1 others(12): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0007t0001others(3): Show | a0001c0002t0001g0009a0001c0002t0001g0036a0001c0002t0001g0065others(12): Show | 15 | 378 | 0.0397 | 12 | c.561 others(27): Show |
CAPN2 | ENSG00000162909.18 | transcript | ENST00000295006.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42374986 | A | AATTTATT others(5): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 306 | 0.0033 | 12 | c.310 others(29): Show |
CAPN3 | ENSG00000092529.26 | transcript | ENST00000397163.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CAPN3_chr15_42354501_42417317 | 42380728 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18981.hp2 NA18982.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0270a0001c0001t0001g0271a0001c0001t0001g0277others(1): Show | 4 | 306 | 0.0131 | 12 | c.310 others(29): 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(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(45): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0007a0001c0001t0001g0100a0001c0001t0001g0125others(44): Show | 48 | 382 | 0.1257 | 12 | c.-36 others(27): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77099763 | C | CGGAGAGG others(5): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19002.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025 | a0001c0001t0024g0004a0001c0001t0025g0111 | 3 | 382 | 0.0079 | 12 | c.297 others(29): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CAPN5_chr11_77061971_77131155 | 77125614 | C | CTATATAT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG03209.hp1 |
a0003 | a0003c0004 | a0003c0004t0021 | a0003c0004t0021g0009a0003c0004t0021g0235 | 3 | 382 | 0.0079 | 12 | c.*17 others(23): Show |
CAPN5 | ENSG00000149260.18 | transcript | ENST00000648180.1 | protein_coding | 13/13 | 1771 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
CAPN6_chrX_111240099_111275483 | 111270389 | C | CCTGCTGC others(5): Show |
5_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02622.hp1 |
a0002a0003 | a0002c0005a0003c0006 | a0002c0005t0023a0003c0006t0011 | a0002c0005t0023g0050a0003c0006t0011g0020 | 3 | 242 | 0.0124 | 12 | c.-46 others(19): Show |
CAPN6 | ENSG00000077274.9 | transcript | ENST00000324068.2 | protein_coding | 1/13 | 6454 | chrX | TogoVar | |||||
CAPN7_chr3_15201246_15257916 | 15210596 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01109.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0059a0001c0001t0001g0204others(38): Show | 44 | 376 | 0.1170 | 12 | c.103 others(29): Show |
CAPN7 | ENSG00000131375.10 | transcript | ENST00000253693.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230757011 | T | TGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG02258.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0024a0001c0002t0001g0108a0003c0004t0001g0116others(1): Show | 4 | 394 | 0.0102 | 12 | c.283 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230761555 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03486.hp1 HG03710.hp2 others(1): Show |
a0003a0005a0010 | a0003c0004a0005c0008a0010c0036 | a0003c0004t0001a0005c0008t0001a0010c0036t0001 | a0003c0004t0001g0264a0003c0004t0001g0336a0005c0008t0001g0240others(1): Show | 4 | 394 | 0.0102 | 12 | c.403 others(29): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230765212 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0017 | a0017c0027 | a0017c0027t0001 | a0017c0027t0001g0162 | 1 | 394 | 0.0025 | 12 | c.537 others(29): 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(5): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 | 1 | 394 | 0.0025 | 12 | c.953 others(27): 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(5): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18970.hp1 NA18970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0048a0001c0001t0004g0188a0001c0002t0001g0227others(1): Show | 4 | 394 | 0.0102 | 12 | c.204 others(31): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPRIN2_chr12_30704553_30759951 | 30758006 | A | AATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 NA19054.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002a0003c0003t0001g0174 | 2 | 378 | 0.0053 | 12 | c.-32 others(23): Show |
CAPRIN2 | ENSG00000110888.19 | transcript | ENST00000695402.1 | protein_coding | 3056 | chr12 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919160 | T | TTAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 402 | 0.0025 | 12 | c.137 others(29): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0051a0002c0002t0001g0266others(2): Show | 9 | 402 | 0.0224 | 12 | c.137 others(29): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPSL_chr5_35899288_35943622 | 35919170 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02698.hp2 HG02735.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0109 | 3 | 402 | 0.0075 | 12 | c.137 others(29): Show |
CAPSL | ENSG00000152611.12 | transcript | ENST00000651391.1 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
CAPZA1_chr1_112614832_112676616 | 112638897 | C | CATAGATA others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01169.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0034others(15): Show | 18 | 368 | 0.0489 | 12 | c.40- others(27): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112638926 | A | ATATAGAT others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0255 | 1 | 368 | 0.0027 | 12 | c.40- others(27): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA1_chr1_112614832_112676616 | 112638932 | A | ATATAGAT others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG00642.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0093a0001c0002t0002g0001a0001c0002t0002g0007others(20): Show | 30 | 368 | 0.0815 | 12 | c.40- others(27): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116859874 | T | TTTTCTTT others(5): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 354 | 0.0028 | 12 | c.-27 others(23): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2712 | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116880696 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 | 1 | 354 | 0.0028 | 12 | c.40- others(27): 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(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0025a0001c0002t0005others(1): Show | a0001c0001t0002g0169a0001c0001t0025g0278a0001c0002t0005g0091others(4): Show | 7 | 354 | 0.0198 | 12 | c.220 others(29): 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(5): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03195.hp1 HG03654.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0002t0003 | a0001c0001t0036g0292a0001c0002t0003g0054a0001c0002t0003g0072 | 3 | 354 | 0.0085 | 12 | c.220 others(29): 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(5): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 354 | 0.0028 | 12 | c.220 others(27): 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(5): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01934.hp2 HG02004.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0004a0001c0002t0010 | a0001c0001t0010g0172a0001c0002t0004g0303a0001c0002t0004g0306others(16): Show | 19 | 354 | 0.0537 | 12 | c.426 others(27): 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(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01516.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 5 | 392 | 0.0128 | 12 | c.*29 others(23): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 2980 | chr12 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19339435 | G | GGAGGGAA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0043 | 1 | 364 | 0.0028 | 12 | c.*83 others(19): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 9/9 | 94 | chr1 | TogoVar | |||||
CAPZB_chr1_19333775_19490539 | 19366283 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02717.hp1 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0138a0001c0001t0002g0355 | 3 | 364 | 0.0082 | 12 | c.330 others(29): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19366307 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0191 | 1 | 364 | 0.0028 | 12 | c.330 others(29): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19379096 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0333 | 1 | 364 | 0.0028 | 12 | c.216 others(27): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19422729 | A | AAACAACA others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG01258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0205others(5): Show | 8 | 364 | 0.0220 | 12 | c.4-2 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19469741 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | NA18974.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0266 | 2 | 364 | 0.0055 | 12 | c.3+1 others(27): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CAPZB_chr1_19333775_19490539 | 19476217 | T | TAGACAGA others(5): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0307 | 1 | 364 | 0.0028 | 12 | c.3+9 others(25): Show |
CAPZB | ENSG00000077549.19 | transcript | ENST00000264202.8 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CARD10_chr22_37485362_37524415 | 37511400 | A | AGGAGGAG others(5): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0220 | 1 | 276 | 0.0036 | 12 | c.700 others(27): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 3/19 | chr22 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2910745 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01123.hp1 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0014a0001c0006t0001others(4): Show | a0001c0001t0001g0103a0001c0001t0001g0200a0001c0001t0001g0280others(12): Show | 15 | 322 | 0.0466 | 12 | c.314 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 23/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2912758 | C | CCATCCAT others(5): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03139.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0017t0001others(2): Show | a0001c0001t0001g0163a0001c0002t0001g0066a0001c0002t0001g0156others(6): Show | 9 | 322 | 0.0280 | 12 | c.302 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 22/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920599 | C | CATCTATC others(5): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0114 | 1 | 322 | 0.0031 | 12 | c.227 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920600 | G | GTCTATCT others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0015others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0015t0001others(1): Show | a0001c0002t0001g0120a0001c0003t0001g0040a0001c0003t0001g0045others(4): Show | 7 | 322 | 0.0217 | 12 | c.227 others(30): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2920692 | C | CATCTATC others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02698.hp1 HG02735.hp1 others(1): Show |
a0001a0017 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0036a0001c0002t0001g0084a0001c0021t0001g0050others(1): Show | 4 | 322 | 0.0124 | 12 | c.227 others(31): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 17/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2933658 | A | ATCTTTCT others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18953.hp2 NA18995.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0001 | a0001c0002t0001g0082a0001c0003t0001g0274a0001c0004t0001g0037others(2): Show | 5 | 322 | 0.0155 | 12 | c.151 others(29): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 10/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2984500 | T | TCTCCCTC others(5): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 322 | 0.0031 | 12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2984538 | T | TCCCTCCC others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0001g0055a0001c0001t0001g0295a0001c0002t0001g0009others(19): Show | 22 | 322 | 0.0683 | 12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3004562 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00738.hp2 HG01070.hp1 others(31): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0162others(31): Show | 34 | 322 | 0.1056 | 12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3007450 | T | TTCCTCCT others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0191 | 1 | 322 | 0.0031 | 12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3008643 | T | TAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(21): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0055a0001c0001t0001g0166a0001c0001t0001g0253others(21): Show | 24 | 322 | 0.0745 | 12 | c.-12 others(33): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 1/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 3047735 | A | AATACATA others(5): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0270 | 1 | 322 | 0.0031 | 12 | c.-41 others(23): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 3869 | chr7 | TogoVar | ||||||
CARD14_chr17_80165030_80214331 | 80171173 | T | TCCTCCCT others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01516.hp2 HG01517.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0023a0001c0030a0002c0045others(2): Show | a0001c0023t0012a0001c0030t0024a0002c0045t0007others(2): Show | a0001c0023t0012g0057a0001c0030t0024g0054a0002c0045t0007g0056others(4): Show | 7 | 376 | 0.0186 | 12 | c.-69 others(31): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |