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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM9_chr8_38991973_39110261 | 39068675 | CAAAA | C | intron_variant | MODIFIER | HG02132.hp1 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0124 others(5): Show |
8 | 36 | 0.2222 | -4 | c.159 others(23): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39080097 | ATTAT | A | intron_variant | MODIFIER | HG03492.hp1 HG03516.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0186 |
3 | 330 | 0.0091 | -4 | c.188 others(23): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39088239 | GATAA | G | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(86): Show |
89 | 330 | 0.2697 | -4 | c.206 others(23): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39099875 | GTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(58): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0004c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show |
61 | 76 | 0.8026 | -4 | c.229 others(23): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39105445 | CTAGT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00621.hp2 others(51): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(51): Show |
54 | 330 | 0.1636 | -4 | c.*17 others(15): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 185 | chr8 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8579969 | AAAAT | A | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02523.hp2 HG02602.hp1 others(8): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0001 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0033 others(8): Show |
11 | 316 | 0.0348 | -4 | c.*92 others(13): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 270 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8584492 | AAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0004a0001c0002t0004a0001c0002t0009others(2): Show | a0001c0001t0004g0304 a0001c0002t0004g0013 a0001c0002t0004g0123 others(8): Show |
12 | 382 | 0.0314 | -4 | c.320 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8598565 | ATTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG01358.hp2 HG01928.hp2 others(31): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0067 others(30): Show |
34 | 49 | 0.6939 | -4 | c.811 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 6/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8599330 | CATCT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(215): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(203): Show |
218 | 382 | 0.5707 | -4 | c.810 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 6/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8607908 | TCAAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(296): Show |
312 | 382 | 0.8168 | -4 | c.-10 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 2/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8609157 | TGTGA | T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02280.hp2 others(25): Show |
a0001a0007a0010 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0291 a0001c0001t0001g0315 a0001c0001t0001g0316 others(25): Show |
28 | 382 | 0.0733 | -4 | c.-21 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8610341 | AACAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(175): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0015 others(169): Show |
178 | 382 | 0.4660 | -4 | c.-21 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1/25 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33521396 | AATAT | A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0003t0001others(5): Show | a0001c0001t0003g0108 a0001c0001t0004g0080 a0001c0003t0001g0057 others(5): Show |
8 | 32 | 0.2500 | -4 | c.*57 others(15): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2138 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33528251 | TAGAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(14): Show |
a0003a0004a0021others(2): Show | a0003c0005a0003c0023a0004c0007others(6): Show | a0003c0005t0006a0003c0005t0007a0003c0023t0006others(7): Show | a0003c0005t0006g0086 a0003c0005t0006g0134 a0003c0005t0006g0165 others(14): Show |
17 | 222 | 0.0766 | -4 | c.460 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 23/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33537160 | CTATT | C | intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02717.hp2 others(9): Show |
a0001a0008a0011others(1): Show | a0001c0001a0001c0011a0001c0018others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0011t0003others(7): Show | a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0008g0102 others(9): Show |
12 | 222 | 0.0541 | -4 | c.444 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 22/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33585038 | TATCC | T | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01074.hp2 others(43): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(33): Show | a0001c0001t0001g0021 a0001c0001t0001g0068 a0001c0001t0001g0070 others(43): Show |
46 | 192 | 0.2396 | -4 | c.286 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 18/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33601106 | AGTGT | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02257.hp1 others(12): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0025a0003c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0025t0012others(11): Show | a0001c0001t0001g0197 a0001c0001t0003g0104 a0001c0001t0003g0108 others(12): Show |
15 | 58 | 0.2586 | -4 | c.252 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33622725 | ATAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01192.hp1 others(7): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0027a0002c0002others(5): Show | a0001c0001t0009a0001c0027t0004a0002c0002t0002others(6): Show | a0001c0001t0009g0201 a0001c0027t0004g0026 a0002c0002t0002g0048 others(7): Show |
10 | 222 | 0.0450 | -4 | c.214 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 14/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33634616 | ATCAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 |
a0001a0010 | a0001c0001a0010c0055 | a0001c0001t0001a0010c0055t0001 | a0001c0001t0001g0128 a0010c0055t0001g0176 |
2 | 222 | 0.0090 | -4 | c.188 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33669115 | ATTAG | A | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 NA21309.hp1 |
a0001a0002a0026 | a0001c0025a0002c0002a0026c0054 | a0001c0025t0012a0002c0002t0001a0026c0054t0007 | a0001c0025t0012g0217 a0002c0002t0001g0044 a0026c0054t0007g0174 |
3 | 222 | 0.0135 | -4 | c.916 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 5/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33672053 | ACACT | A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG02257.hp2 others(4): Show |
a0001a0002a0024others(1): Show | a0001c0001a0001c0024a0001c0028others(4): Show | a0001c0001t0001a0001c0024t0001a0001c0028t0001others(4): Show | a0001c0001t0001g0128 a0001c0024t0001g0050 a0001c0028t0001g0189 others(4): Show |
7 | 222 | 0.0315 | -4 | c.916 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 5/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33686704 | CTCTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01069.hp2 others(47): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(47): Show |
50 | 222 | 0.2252 | -4 | c.635 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33705266 | GGTGT | G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01069.hp1 others(47): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(20): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(47): Show |
50 | 103 | 0.4854 | -4 | c.635 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33712627 | AAGAT | A | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG02976.hp1 others(3): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0003a0004c0034others(3): Show | a0001c0001t0001a0001c0003t0001a0004c0034t0025others(3): Show | a0001c0001t0001g0197 a0001c0003t0001g0143 a0004c0034t0025g0194 others(3): Show |
6 | 222 | 0.0270 | -4 | c.635 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33720284 | TCACA | T | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02257.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0009a0003c0005others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0003g0104 a0001c0001t0003g0108 a0001c0001t0004g0215 others(9): Show |
12 | 53 | 0.2264 | -4 | c.634 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33722225 | ATTGT | A | intron_variant | MODIFIER | HG00621.hp1 HG01975.hp2 HG02071.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0068 a0001c0001t0001g0129 a0001c0001t0001g0167 others(17): Show |
20 | 222 | 0.0901 | -4 | c.634 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33730289 | GGTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02922.hp1 |
a0001a0003a0010 | a0001c0001a0003c0005a0010c0052 | a0001c0001t0001a0003c0005t0006a0010c0052t0027 | a0001c0001t0001g0197 a0003c0005t0006g0086 a0010c0052t0027g0224 |
3 | 84 | 0.0357 | -4 | c.634 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33733998 | TACAC | T | intron_variant | MODIFIER | HG01175.hp1 HG01261.hp1 HG01261.hp2 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0038 a0001c0001t0001g0093 a0001c0001t0001g0095 others(23): Show |
26 | 44 | 0.5909 | -4 | c.634 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33760879 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00621.hp1 others(100): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0008others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 others(100): Show |
103 | 131 | 0.7863 | -4 | c.490 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33764918 | TACAA | T | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp1 HG03540.hp1 others(1): Show |
a0001a0004a0008 | a0001c0001a0001c0003a0004c0034others(1): Show | a0001c0001t0001a0001c0003t0001a0004c0034t0025others(1): Show | a0001c0001t0001g0197 a0001c0003t0001g0143 a0004c0034t0025g0194 others(1): Show |
4 | 222 | 0.0180 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33778027 | CATAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02922.hp1 NA19030.hp2 |
a0001a0004a0008 | a0001c0001a0004c0034a0008c0038 | a0001c0001t0001a0004c0034t0025a0008c0038t0003 | a0001c0001t0001g0197 a0004c0034t0025g0194 a0008c0038t0003g0105 |
3 | 222 | 0.0135 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33779184 | ATTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(61): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0024others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0067 others(61): Show |
64 | 102 | 0.6275 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33784400 | AAAGT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02965.hp1 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0011a0003c0005a0004c0007others(1): Show | a0001c0011t0001a0003c0005t0007a0004c0007t0014others(1): Show | a0001c0011t0001g0163 a0001c0011t0001g0164 a0003c0005t0007g0040 others(2): Show |
5 | 222 | 0.0225 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33790782 | CATAT | C | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0037a0004c0034others(1): Show | a0001c0001t0001a0002c0037t0004a0004c0034t0025others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0197 a0002c0037t0004g0043 others(2): Show |
5 | 93 | 0.0538 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33798019 | CTCTT | C | intron_variant | MODIFIER | HG00438.hp1 HG02523.hp2 NA18988.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0002c0004t0002g0037 |
3 | 222 | 0.0135 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33809482 | TTATC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(113): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0003a0001c0008others(31): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(45): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(113): Show |
116 | 222 | 0.5225 | -4 | c.490 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33826572 | ATGTG | A | intron_variant | MODIFIER | HG02258.hp1 NA19043.hp2 |
a0014a0031 | a0014c0053a0031c0060 | a0014c0053t0017a0031c0060t0005 | a0014c0053t0017g0001 a0031c0060t0005g0220 |
2 | 222 | 0.0090 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33827710 | AATAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(77): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0024 others(77): Show |
80 | 126 | 0.6349 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835951 | CTCTG | C | intron_variant | MODIFIER | NA18982.hp1 NA18998.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0187 a0002c0002t0002g0186 |
2 | 217 | 0.0092 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33835953 | CTGTG | C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01081.hp1 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(12): Show | a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0180 others(21): Show |
24 | 206 | 0.1165 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849294 | CAATA | C | intron_variant | MODIFIER | HG00408.hp2 HG01123.hp2 NA18957.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0003g0022 others(2): Show |
5 | 218 | 0.0229 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849327 | ATATG | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02055.hp2 others(5): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0016a0001c0018others(5): Show | a0001c0001t0004a0001c0016t0001a0001c0018t0008others(5): Show | a0001c0001t0004g0053 a0001c0016t0001g0208 a0001c0018t0008g0207 others(5): Show |
8 | 222 | 0.0360 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33849398 | ATATG | A | intron_variant | MODIFIER | HG02258.hp2 NA19043.hp2 |
a0010a0031 | a0010c0052a0031c0060 | a0010c0052t0027a0031c0060t0005 | a0010c0052t0027g0224 a0031c0060t0005g0220 |
2 | 222 | 0.0090 | -4 | c.489 others(23): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33887168 | GAAAT | G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02809.hp2 |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0004a0003c0005t0007a0004c0007t0007 | a0001c0001t0004g0053 a0003c0005t0007g0051 a0004c0007t0007g0052 |
3 | 222 | 0.0135 | -4 | c.127 others(21): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133425034 | GACAA | G | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01496.hp2 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0001 | a0001c0001t0001g0249 a0002c0002t0001g0243 a0007c0009t0001g0244 others(4): Show |
7 | 349 | 0.0201 | -4 | c.331 others(19): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133435517 | TTTTC | T | intron_variant | MODIFIER | HG00423.hp2 NA18969.hp1 NA18983.hp1 others(2): Show |
a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0033 a0009c0012t0001g0034 a0009c0012t0001g0065 others(2): Show |
5 | 362 | 0.0138 | -4 | c.130 others(23): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133461023 | AGTCT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(167): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0010others(20): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(140): Show |
170 | 362 | 0.4696 | -4 | c.*18 others(15): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 1638 | chr9 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671086 | CCTCT | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01258.hp2 others(2): Show |
a0001a0003a0014 | a0001c0002a0001c0033a0003c0071others(1): Show | a0001c0002t0041a0001c0033t0018a0003c0071t0047others(1): Show | a0001c0002t0041g0025 a0001c0033t0018g0037 a0001c0033t0018g0038 others(2): Show |
5 | 312 | 0.0160 | -4 | c.-17 others(15): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1419 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671106 | TCTCA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01243.hp2 others(8): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0004a0003c0003others(5): Show | a0001c0002t0002a0001c0004t0003a0003c0003t0006others(5): Show | a0001c0002t0002g0132 a0001c0002t0002g0147 a0001c0004t0003g0140 others(8): Show |
11 | 318 | 0.0346 | -4 | c.-16 others(15): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1399 | chr10 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70671108 | TCACA | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(72): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0004a0001c0005others(19): Show | a0001c0002t0002a0001c0002t0034a0001c0004t0003others(25): Show | a0001c0002t0002g0134 a0001c0002t0002g0150 a0001c0002t0002g0156 others(70): Show |
75 | 166 | 0.4518 | -4 | c.-16 others(15): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1397 | chr10 | TogoVar |