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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS20_chr12_43348866_43557203 | 43553977 | C | CCTTTTTC others(5): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01123.hp2 others(3): Show |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0146 others(3): Show |
6 | 304 | 0.0197 | 12 | c.-20 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1775 | chr12 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179115676 | A | AAGGAGGA others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0009 | a0009c0020 | a0009c0020t0003 | a0009c0020t0003g0124 | 1 | 274 | 0.0036 | 12 | c.317 others(31): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 21/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179115693 | G | GGAAAGGG others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02970.hp1 |
a0002a0012 | a0002c0105a0002c0109a0012c0080 | a0002c0105t0012a0002c0109t0012a0012c0080t0012 | a0002c0105t0012g0208 a0002c0109t0012g0203 a0012c0080t0012g0192 |
3 | 273 | 0.0110 | 12 | c.317 others(31): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 21/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179135109 | C | CTCCAGCT others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0072 | 1 | 274 | 0.0036 | 12 | c.208 others(29): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 13/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179140799 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03017.hp1 NA19043.hp1 |
a0001a0004 | a0001c0069a0004c0013 | a0001c0069t0002a0004c0013t0003 | a0001c0069t0002g0044 a0004c0013t0003g0084 |
2 | 77 | 0.0260 | 12 | c.163 others(29): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179150121 | A | AGCTCCTG others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0018a0001c0022a0002c0016others(6): Show | a0001c0018t0002a0001c0022t0002a0002c0016t0002others(7): Show | a0001c0018t0002g0161 a0001c0018t0002g0176 a0001c0018t0002g0184 others(21): Show |
24 | 274 | 0.0876 | 12 | c.162 others(31): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179173212 | T | TTAATAAT others(5): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02258.hp2 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0014others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0014t0002others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0004t0001g0146 others(9): Show |
12 | 52 | 0.2308 | 12 | c.975 others(29): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0012 | a0003c0012t0007 | a0003c0012t0007g0120 | 1 | 11 | 0.0909 | 12 | c.892 others(29): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179205757 | G | GTTATTAT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00673.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0014others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(21): Show | a0001c0001t0001g0015 a0001c0001t0004g0027 a0001c0001t0004g0091 others(25): Show |
28 | 97 | 0.2887 | 12 | c.891 others(29): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179223538 | A | ACACGAAT others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02717.hp2 others(3): Show |
a0001a0002a0003 | a0001c0046a0001c0065a0002c0039others(3): Show | a0001c0046t0002a0001c0065t0002a0002c0039t0007others(3): Show | a0001c0046t0002g0194 a0001c0065t0002g0118 a0002c0039t0007g0210 others(3): Show |
6 | 274 | 0.0219 | 12 | c.689 others(31): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179299530 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(81): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0018others(40): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(51): Show | a0001c0001t0001g0011 a0001c0001t0001g0065 a0001c0001t0001g0068 others(81): Show |
84 | 101 | 0.8317 | 12 | c.535 others(31): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179345249 | A | AGCGGCAG others(5): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp2 | a0020 | a0020c0113 | a0020c0113t0029 | a0020c0113t0029g0276 | 1 | 274 | 0.0036 | 12 | c.79_ others(17): Show |
p.Pro others(23): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 1/22 | 212/6783 | 79/3636 | 27/1211 | chr5 | TogoVar | |||
ADAMTS3_chr4_72275969_72574221 | 72288923 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02451.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0004a0001c0017t0001 | a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0179 others(2): Show |
5 | 41 | 0.1220 | 12 | c.293 others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 20/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72379810 | A | AAGTAGTG others(5): Show |
intron_variant | MODIFIER | HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0130 |
2 | 180 | 0.0111 | 12 | c.661 others(31): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 4/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72470361 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02723.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0018a0002c0002t0001others(1): Show | a0001c0001t0004g0138 a0001c0001t0018g0139 a0002c0002t0001g0043 others(1): Show |
4 | 61 | 0.0656 | 12 | c.505 others(31): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550008 | A | AAGGAGAA others(5): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 155 | 0.0065 | 12 | c.98- others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550014 | A | AAGGAGAA others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0127 | 1 | 135 | 0.0074 | 12 | c.98- others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550020 | A | AAGGAGAA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0003 | a0001c0001t0001g0132 a0003c0008t0003g0133 |
2 | 132 | 0.0152 | 12 | c.98- others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72550114 | A | AGAAGAAG others(5): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp1 |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0020t0005 | a0002c0002t0001g0172 a0002c0020t0005g0079 |
2 | 138 | 0.0145 | 12 | c.98- others(27): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADAMTS4_chr1_161179302_161204054 | 161188883 | A | AATATATA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02132.hp2 HG02155.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0147a0001c0001t0148a0001c0002t0167others(6): Show | a0001c0001t0147g0111 a0001c0001t0148g0112 a0001c0002t0167g0245 others(6): Show |
10 | 72 | 0.1389 | 12 | c.*22 others(23): Show |
ADAMTS4 | ENSG00000158859.10 | transcript | ENST00000367996.6 | protein_coding | 9/9 | 2254 | chr1 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26949136 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0179 | 1 | 257 | 0.0039 | 12 | c.123 others(31): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 2/7 | chr21 | TogoVar | |||||||
ADAMTS5_chr21_26912922_26972088 | 26957447 | T | TGATAGAT others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 NA19062.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0042 | a0001c0001t0003g0334 a0004c0004t0042g0101 |
2 | 77 | 0.0260 | 12 | c.110 others(31): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65196522 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 37 | 0.0270 | 12 | c.270 others(29): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 21/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65216782 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01106.hp2 others(14): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 others(14): Show |
17 | 67 | 0.2537 | 12 | c.227 others(31): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 18/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65275353 | G | GAGAAAGA others(5): Show |
intron_variant | MODIFIER | NA19070.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0154 |
2 | 60 | 0.0333 | 12 | c.151 others(31): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 11/24 | chr5 | TogoVar | |||||||
ADAMTS6_chr5_65143738_65486920 | 65319739 | G | GGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01993.hp2 HG02027.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0095 others(10): Show |
13 | 88 | 0.1477 | 12 | c.122 others(31): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | |||||||
ADAMTS7_chr15_78754206_78816464 | 78780679 | C | CCCCCCAC others(5): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0016 | a0016c0034 | a0016c0034t0001 | a0016c0034t0001g0068 | 1 | 378 | 0.0026 | 12 | c.132 others(31): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 8/23 | chr15 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64517416 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
a0003a0013 | a0003c0017a0013c0018 | a0003c0017t0006a0013c0018t0006 | a0003c0017t0006g0027 a0003c0017t0006g0028 a0013c0018t0006g0173 others(1): Show |
4 | 16 | 0.2500 | 12 | c.*6- others(25): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64540798 | C | CTTCATTC others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 258 | 0.0039 | 12 | c.552 others(29): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 36/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64556714 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(23): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0007a0001c0020others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0096 a0001c0001t0001g0112 others(22): Show |
26 | 66 | 0.3939 | 12 | c.469 others(31): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64643445 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(5): Show | a0001c0001t0001g0101 a0001c0001t0001g0164 a0001c0001t0001g0222 others(13): Show |
16 | 60 | 0.2667 | 12 | c.171 others(31): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 11/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64689107 | C | CGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 NA18522.hp2 |
a0001a0003 | a0001c0007a0003c0025 | a0001c0007t0002a0003c0025t0001 | a0001c0007t0002g0062 a0003c0025t0001g0026 |
2 | 49 | 0.0408 | 12 | c.-14 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1108 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692855 | T | TACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02559.hp1 HG02615.hp1 others(13): Show |
a0001a0006a0013others(1): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0010others(7): Show | a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0159 others(13): Show |
16 | 102 | 0.1569 | 12 | c.-51 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4856 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01123.hp2 others(7): Show |
a0001a0014 | a0001c0001a0014c0041 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0143 others(7): Show |
10 | 223 | 0.0448 | 12 | c.-52 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64692888 | A | ACACACAC others(5): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 NA18955.hp1 NA19066.hp2 |
a0001a0002 | a0001c0014a0002c0002 | a0001c0014t0001a0002c0002t0001a0002c0002t0003 | a0001c0014t0001g0091 a0002c0002t0001g0121 a0002c0002t0003g0122 |
3 | 216 | 0.0139 | 12 | c.-52 others(23): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 4889 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18503421 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0020 | 1 | 110 | 0.0091 | 12 | c.64- others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18503980 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03654.hp1 HG04115.hp1 HG04199.hp1 others(1): Show |
a0002a0004a0006 | a0002c0001a0004c0015a0006c0014 | a0002c0001t0004a0004c0015t0025a0006c0014t0003 | a0002c0001t0004g0036 a0002c0001t0004g0038 a0004c0015t0025g0037 others(1): Show |
4 | 116 | 0.0345 | 12 | c.64- others(25): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18547633 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0017 | 1 | 74 | 0.0135 | 12 | c.237 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18588884 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0010 | 1 | 190 | 0.0053 | 12 | c.474 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18621556 | C | CCACACAC others(5): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0133 | 1 | 50 | 0.0200 | 12 | c.475 others(27): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18626839 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0212 | 1 | 185 | 0.0054 | 12 | c.601 others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18655806 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046 | 1 | 4 | 0.2500 | 12 | c.835 others(29): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688677 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0042 | 1 | 211 | 0.0047 | 12 | c.157 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688679 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0129 | 1 | 208 | 0.0048 | 12 | c.157 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18971.hp2 |
a0002a0003 | a0002c0016a0003c0019 | a0002c0016t0006a0003c0019t0001 | a0002c0016t0006g0194 a0003c0019t0001g0135 |
2 | 34 | 0.0588 | 12 | c.157 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18696865 | A | ATATTATT others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01109.hp2 others(32): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0005others(18): Show | a0001c0002t0003a0001c0002t0004a0001c0003t0001others(30): Show | a0001c0002t0003g0156 a0001c0002t0004g0046 a0001c0003t0001g0181 others(32): Show |
35 | 41 | 0.8537 | 12 | c.157 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18703701 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00639.hp1 others(4): Show |
a0001a0003a0012 | a0001c0007a0001c0010a0001c0049others(3): Show | a0001c0007t0001a0001c0010t0001a0001c0010t0002others(4): Show | a0001c0007t0001g0191 a0001c0010t0001g0093 a0001c0010t0002g0067 others(4): Show |
7 | 21 | 0.3333 | 12 | c.157 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18735747 | T | TTCTTTTC others(5): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02109.hp1 HG02451.hp2 others(1): Show |
a0001a0002a0017 | a0001c0054a0002c0045a0002c0053others(1): Show | a0001c0054t0004a0002c0045t0007a0002c0053t0003others(1): Show | a0001c0054t0004g0120 a0002c0045t0007g0014 a0002c0053t0003g0119 others(1): Show |
4 | 216 | 0.0185 | 12 | c.200 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18739899 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03516.hp2 HG03654.hp1 others(1): Show |
a0002a0004a0024 | a0002c0001a0002c0016a0004c0015others(1): Show | a0002c0001t0001a0002c0016t0002a0004c0015t0025others(1): Show | a0002c0001t0001g0185 a0002c0016t0002g0151 a0004c0015t0025g0037 others(1): Show |
4 | 76 | 0.0526 | 12 | c.200 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18752090 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 178 | 0.0056 | 12 | c.200 others(31): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |