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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLSTN1_chr1_9723926_9828965 | 9823820 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(29): Show | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0124others(265): Show | 268 | 270 | 0.9926 | 0 | c.-87 others(3): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CLTA_chr9_36185921_36217059 | 36191007 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00408.hp1 HG00544.hp2 HG00642.hp1 others(58): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0003 | a0001c0002t0003g0003a0001c0002t0003g0013a0001c0002t0003g0014others(29): Show | 61 | 400 | 0.1525 | 0 | c.-50 others(3): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 606993 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp1 HG00323.hp1 HG00733.hp2 others(49): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0003others(2): Show | a0001c0001t0003g0011a0001c0001t0003g0012a0001c0001t0003g0013others(49): Show | 52 | 414 | 0.1256 | 0 | c.-12 others(4): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 122996532 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(264): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(72): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(232): Show | 267 | 336 | 0.7946 | 0 | c.-77 others(4): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 122996686 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0087a0001c0001t0088 | a0001c0001t0087g0148a0001c0001t0088g0117 | 2 | 336 | 0.0060 | 0 | c.-62 others(4): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 122997224 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02145.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0265a0001c0001t0035g0266 | 2 | 336 | 0.0060 | 0 | c.-55 others(4): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/6 | chr6 | TogoVar | ||||||
CMBL_chr5_10272595_10312902 | 10307635 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0255 | 1 | 350 | 0.0029 | 0 | c.-30 others(3): Show |
CMBL | ENSG00000164237.9 | transcript | ENST00000296658.4 | protein_coding | 1/6 | chr5 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 81006820 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01243.hp1 HG02647.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0170a0001c0001t0171a0001c0001t0172others(1): Show | a0001c0001t0170g0311a0001c0001t0171g0312a0001c0001t0172g0313others(1): Show | 4 | 408 | 0.0098 | 0 | c.-12 others(4): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
CMPK2_chr2_6843316_6870907 | 6865855 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0187 | 1 | 392 | 0.0026 | 0 | c.-15 others(4): Show |
CMPK2 | ENSG00000134326.12 | transcript | ENST00000256722.10 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CMTM5_chr14_23372046_23384772 | 23377149 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0007 | 1 | 422 | 0.0024 | 0 | c.-10 others(4): Show |
CMTM5 | ENSG00000166091.21 | transcript | ENST00000339180.9 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
CMTM5_chr14_23372046_23384772 | 23377167 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0001 | 1 | 422 | 0.0024 | 0 | c.-85 others(3): Show |
CMTM5 | ENSG00000166091.21 | transcript | ENST00000339180.9 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
CMTM7_chr3_32386853_32460528 | 32391855 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0199 | 1 | 368 | 0.0027 | 0 | c.-52 others(3): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
CMTR1_chr6_37428221_37486508 | 37433227 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00280.hp2 HG01074.hp2 HG01361.hp1 others(31): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0002t0004g0030a0001c0002t0004g0031a0001c0002t0004g0161others(27): Show | 34 | 358 | 0.0950 | 0 | c.-15 others(4): Show |
CMTR1 | ENSG00000137200.13 | transcript | ENST00000373451.9 | protein_coding | 1/24 | chr6 | TogoVar | ||||||
CNDP2_chr18_74491363_74528454 | 74499949 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0185 | 1 | 424 | 0.0024 | 0 | c.-25 others(3): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CNGA1_chr4_47930977_48021681 | 48010800 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0004g0031a0001c0001t0004g0032a0001c0001t0004g0033others(22): Show | 25 | 366 | 0.0683 | 0 | c.-12 others(4): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224616397 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0262 | 1 | 358 | 0.0028 | 0 | c.-77 others(4): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224616620 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02257.hp1 HG02280.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0029 | a0001c0001t0012g0012a0001c0001t0012g0013a0001c0001t0012g0014others(1): Show | 4 | 358 | 0.0112 | 0 | c.-55 others(4): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
CNKSR1_chr1_26172491_26194884 | 26177528 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01884.hp1 HG02258.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0010a0001c0001t0004g0057a0001c0001t0004g0072others(3): Show | 9 | 372 | 0.0242 | 0 | c.-20 others(3): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510564 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-45 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510575 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-46 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510589 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-47 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510598 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-48 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510621 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-50 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510633 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-51 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510637 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-52 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510647 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-53 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154510663 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0045 | a0001c0003t0045g0002 | 1 | 342 | 0.0029 | 0 | c.-54 others(4): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/13 | chr6 | TogoVar | ||||||
CNNM4_chr2_96755902_96816874 | 96760946 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0242 | 1 | 270 | 0.0037 | 0 | c.-54 others(3): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54137771 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 223 | 0.0045 | 0 | c.-27 others(4): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 1/18 | chr19 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135509928 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0350 | 1 | 362 | 0.0028 | 0 | c.-13 others(4): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135510069 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00597.hp2 HG00673.hp2 HG02083.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0351a0001c0001t0003g0352a0001c0001t0003g0353others(9): Show | 12 | 362 | 0.0332 | 0 | c.-27 others(4): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
CNPY2_chr12_56304844_56320988 | 56315849 | C | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 | 1 | 372 | 0.0027 | 0 | c.-54 others(3): Show |
CNPY2 | ENSG00000257727.6 | transcript | ENST00000273308.9 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
CNRIP1_chr2_68288010_68324949 | 68319409 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0367a0001c0001t0005g0368 | 2 | 424 | 0.0047 | 0 | c.-9C others(2): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40908421 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02486.hp1 HG02572.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0026 | a0001c0001t0014g0074a0001c0001t0014g0185a0001c0001t0026g0190 | 3 | 230 | 0.0130 | 0 | c.-12 others(3): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 2/24 | chr12 | TogoVar | ||||||
COA4_chr11_73867667_73881846 | 73876788 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00642.hp1 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 3 | 394 | 0.0076 | 0 | c.-48 others(3): Show |
COA4 | ENSG00000181924.7 | transcript | ENST00000355693.5 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
COA5_chr2_98594314_98613512 | 98608474 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02109.hp2 NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 3 | 420 | 0.0071 | 0 | c.-69 others(3): Show |
COA5 | ENSG00000183513.9 | transcript | ENST00000328709.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51316753 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG03139.hp2 NA18906.hp2 |
a0008a0012 | a0008c0013a0012c0024 | a0008c0013t0015a0012c0024t0016 | a0008c0013t0015g0230a0012c0024t0016g0229 | 2 | 230 | 0.0087 | 0 | c.-12 others(4): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69802014 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(276): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(46): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(276): Show | 279 | 324 | 0.8611 | 0 | c.-41 others(4): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/41 | chr10 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138913910 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02738.hp2 | a0002 | a0002c0011 | a0002c0011t0012 | a0002c0011t0012g0139 | 1 | 158 | 0.0063 | 0 | c.-36 others(4): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/65 | chr8 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86156697 | G | A | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02698.hp2 | a0007 | a0007c0014 | a0007c0014t0017 | a0007c0014t0017g0238 | 1 | 238 | 0.0042 | 0 | c.-30 others(4): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 1/60 | chr1 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101362935 | G | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(113): Show | 116 | 174 | 0.6667 | 0 | c.-98 others(3): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101362942 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(113): Show | 116 | 174 | 0.6667 | 0 | c.-91 others(3): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101362952 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(113): Show | 116 | 174 | 0.6667 | 0 | c.-81 others(3): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114155675 | T | C | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA19043.hp1 | a0009 | a0009c0140 | a0009c0140t0019 | a0009c0140t0019g0209 | 1 | 308 | 0.0033 | 0 | c.-27 others(4): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 1/61 | chr9 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110307341 | C | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(115): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(69): Show | a0001c0001t0002g0306a0001c0001t0002g0338a0001c0001t0004g0280others(114): Show | 118 | 372 | 0.3172 | 0 | c.-23 others(4): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 1/48 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110307358 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(203): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0003others(71): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(119): Show | a0001c0001t0002g0306a0001c0001t0002g0338a0001c0001t0003g0063others(202): Show | 206 | 372 | 0.5538 | 0 | c.-21 others(4): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 1/48 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134642078 | A | G | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG01891.hp1 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003a0001c0044 | a0001c0003t0025a0001c0044t0057 | a0001c0003t0025g0043a0001c0003t0025g0218a0001c0044t0057g0042 | 3 | 272 | 0.0110 | 0 | c.-11 others(4): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | chr9 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45981811 | C | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 128 | 0.0078 | 0 | c.-40 others(3): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46098127 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0086 | 1 | 372 | 0.0027 | 0 | c.-74 others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/28 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46098127 | G | T | 5_prime_UTR_premature_start_codon_gain_variant | LOW | HG00621.hp2 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0088 | 1 | 364 | 0.0028 | 0 | c.-74 others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/28 | chr21 | TogoVar |