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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG3_chr13_45459939_45541701 | 45508068 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0150 | 1 | 342 | 0.0029 | -10 | c.159 others(29): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45526076 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 342 | 0.0029 | -10 | c.223 others(29): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70506608 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01169.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0179 a0001c0001t0001g0257 a0001c0003t0001g0014 others(5): Show |
8 | 354 | 0.0226 | -10 | c.106 others(29): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG4_chr16_70475571_70528554 | 70515723 | GCTTGCTT others(3): Show |
G | intron_variant | MODIFIER | HG00597.hp1 NA18954.hp2 NA18968.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0068 a0001c0001t0001g0094 a0001c0001t0001g0105 others(3): Show |
6 | 354 | 0.0170 | -10 | c.370 others(27): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 3/18 | chr16 | TogoVar | |||||||
COG4_chr16_70475571_70528554 | 70525957 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 others(4): Show |
7 | 354 | 0.0198 | -10 | c.-24 others(21): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 2404 | chr16 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02293.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(5): Show |
8 | 370 | 0.0216 | -10 | c.788 others(27): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39694955 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0224 | 1 | 370 | 0.0027 | -10 | c.116 others(27): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39730773 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02970.hp1 HG03927.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0157 a0001c0001t0001g0159 a0002c0002t0006g0320 others(1): Show |
4 | 370 | 0.0108 | -10 | c.182 others(29): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23420910 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(74): Show |
a0001a0008 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0009t0002others(2): Show | a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0019 others(74): Show |
77 | 272 | 0.2831 | -10 | c.101 others(29): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 7/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23439304 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 272 | 0.0037 | -10 | c.604 others(27): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 4/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23449380 | TTAAAATA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00741.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0031 others(27): Show |
31 | 272 | 0.1140 | -10 | c.170 others(27): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1/16 | chr16 | TogoVar | |||||||
COG8_chr16_69321428_69344564 | 69327160 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0058 | 1 | 360 | 0.0028 | -10 | c.*20 others(21): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 6/6 | 3669 | chr16 | TogoVar | ||||||
COIL_chr17_56933199_56966050 | 56952126 | ACTATAAT others(3): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0076 | 1 | 418 | 0.0024 | -10 | c.246 others(27): Show |
COIL | ENSG00000121058.5 | transcript | ENST00000240316.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102943452 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(32): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0005a0001c0008others(11): Show | a0001c0004t0004a0001c0005t0004a0001c0005t0005others(14): Show | a0001c0004t0004g0018 a0001c0005t0004g0015 a0001c0005t0005g0061 others(32): Show |
35 | 184 | 0.1902 | -10 | c.327 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102951744 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp2 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0006others(10): Show | a0001c0004t0004a0001c0005t0004a0001c0006t0001others(13): Show | a0001c0004t0004g0018 a0001c0005t0004g0015 a0001c0006t0001g0017 others(31): Show |
34 | 184 | 0.1848 | -10 | c.316 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 41/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103006526 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0183 | 1 | 184 | 0.0054 | -10 | c.168 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 15/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103036322 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02809.hp2 others(8): Show |
a0001a0004a0019 | a0001c0006a0001c0009a0004c0014others(1): Show | a0001c0006t0001a0001c0006t0003a0001c0009t0001others(3): Show | a0001c0006t0001g0034 a0001c0006t0001g0036 a0001c0006t0001g0045 others(8): Show |
11 | 184 | 0.0598 | -10 | c.652 others(27): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75095623 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0141 |
2 | 206 | 0.0097 | -10 | c.857 others(27): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 59/65 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208168 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02015.hp1 HG02083.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0184 a0002c0002t0001g0097 a0002c0002t0002g0163 others(3): Show |
6 | 206 | 0.0291 | -10 | c.-24 others(21): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69877697 | TCTCACAC others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02723.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0141 a0001c0001t0007g0006 a0001c0002t0001g0317 others(2): Show |
5 | 324 | 0.0154 | -10 | c.436 others(25): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69877699 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(54): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0056 others(54): Show |
57 | 324 | 0.1759 | -10 | c.436 others(25): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69933135 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02717.hp2 others(8): Show |
a0002a0008 | a0002c0005a0002c0008a0002c0031others(1): Show | a0002c0005t0001a0002c0005t0002a0002c0005t0003others(3): Show | a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0005t0001g0171 others(8): Show |
11 | 324 | 0.0340 | -10 | c.172 others(27): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 31/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120166875 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG03486.hp2 HG04199.hp1 NA19065.hp1 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0003a0003c0010t0007 | a0001c0001t0001g0154 a0001c0001t0003g0149 a0003c0010t0007g0073 |
3 | 218 | 0.0138 | -10 | c.350 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02809.hp1 HG02886.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0014a0001c0027others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0020others(5): Show | a0001c0001t0002g0029 a0001c0001t0003g0149 a0001c0001t0020g0206 others(7): Show |
10 | 218 | 0.0459 | -10 | c.877 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120229089 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0213 | 1 | 218 | 0.0046 | -10 | c.219 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 18/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298597 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 HG04204.hp1 others(1): Show |
a0002 | a0002c0002a0002c0033 | a0002c0002t0001a0002c0002t0003a0002c0033t0001 | a0002c0002t0001g0024 a0002c0002t0001g0200 a0002c0002t0003g0021 others(1): Show |
4 | 218 | 0.0184 | -10 | c.431 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120334585 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 |
a0004a0008 | a0004c0009a0008c0028 | a0004c0009t0007a0008c0028t0002 | a0004c0009t0007g0161 a0008c0028t0002g0130 |
2 | 218 | 0.0092 | -10 | c.478 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0046 | 1 | 310 | 0.0032 | -10 | c.365 others(27): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01433.hp2 others(27): Show |
a0001a0002a0011 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0002a0001c0006t0001a0001c0006t0002others(3): Show | a0001c0001t0002g0057 a0001c0006t0001g0074 a0001c0006t0002g0070 others(22): Show |
30 | 336 | 0.0893 | -10 | c.307 others(27): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104039786 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02897.hp1 others(5): Show |
a0002a0025 | a0002c0002a0025c0040 | a0002c0002t0002a0025c0040t0002 | a0002c0002t0002g0265 a0002c0002t0002g0291 a0002c0002t0002g0292 others(5): Show |
8 | 336 | 0.0238 | -10 | c.278 others(27): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 41/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104077699 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(254): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0006a0001c0014others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(229): Show |
257 | 336 | 0.7649 | -10 | c.98- others(23): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 3/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45403628 | GACATGCA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02258.hp2 HG02818.hp2 others(3): Show |
a0001a0007a0009others(2): Show | a0001c0001a0007c0034a0007c0076others(3): Show | a0001c0001t0001a0007c0034t0001a0007c0076t0002others(3): Show | a0001c0001t0001g0191 a0007c0034t0001g0282 a0007c0076t0002g0281 others(3): Show |
6 | 292 | 0.0206 | -10 | c.-16 others(21): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1536 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45437245 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02818.hp2 others(2): Show |
a0001a0005a0030 | a0001c0001a0001c0002a0005c0060others(1): Show | a0001c0001t0001a0001c0002t0012a0005c0060t0001others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0191 a0001c0002t0012g0109 others(2): Show |
5 | 292 | 0.0171 | -10 | c.107 others(29): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437327 | CACACACT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0098 | a0001c0098t0001 | a0001c0098t0001g0007 | 1 | 292 | 0.0034 | -10 | c.107 others(29): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437782 | TCACTCAC others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 HG03471.hp2 others(1): Show |
a0001a0008 | a0001c0022a0008c0101 | a0001c0022t0001a0008c0101t0005 | a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 others(1): Show |
4 | 292 | 0.0137 | -10 | c.107 others(29): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437860 | TCACACTC others(3): Show |
T | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 HG03471.hp2 others(2): Show |
a0001a0008 | a0001c0004a0001c0022a0008c0101 | a0001c0004t0001a0001c0022t0001a0008c0101t0005 | a0001c0004t0001g0112 a0001c0022t0001g0008 a0001c0022t0001g0021 others(2): Show |
5 | 292 | 0.0171 | -10 | c.107 others(29): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45462823 | TGTGTTAA others(3): Show |
T | intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0084 | a0002c0084t0002 | a0002c0084t0002g0212 | 1 | 292 | 0.0034 | -10 | c.107 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45479557 | TCACACAT others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(53): Show |
a0001a0002a0004others(5): Show | a0001c0004a0001c0005a0001c0035others(13): Show | a0001c0004t0001a0001c0004t0016a0001c0005t0002others(18): Show | a0001c0004t0001g0013 a0001c0004t0001g0018 a0001c0004t0001g0022 others(53): Show |
56 | 292 | 0.1918 | -10 | c.124 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45490056 | CACTCCCC others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03209.hp2 HG03471.hp2 others(2): Show |
a0001a0003 | a0001c0022a0001c0038a0003c0047 | a0001c0022t0001a0001c0038t0004a0003c0047t0001 | a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 others(2): Show |
5 | 292 | 0.0171 | -10 | c.196 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45510993 | ACACAACA others(3): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0231 | 1 | 292 | 0.0034 | -10 | c.369 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 40/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69896543 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0067 | 1 | 182 | 0.0055 | -10 | c.92- others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69927924 | AGGCCTTC others(3): Show |
A | frameshift_variant | HIGH | HG02145.hp1 | a0011 | a0011c0014 | a0011c0014t0023 | a0011c0014t0023g0110 | 1 | 182 | 0.0055 | -10 | c.283 others(17): Show |
p.Gly others(4): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 5/51 | 400/8740 | 283/3429 | 95/1142 | chr6 | TogoVar | |||
COL19A1_chr6_69861556_70217468 | 69937992 | CAATGTGA others(3): Show |
C | intron_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0076 | 1 | 182 | 0.0055 | -10 | c.874 others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 8/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69950674 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG02572.hp2 others(9): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0002a0002c0003t0021a0002c0004t0001others(2): Show | a0002c0003t0002g0020 a0002c0003t0002g0032 a0002c0003t0002g0045 others(9): Show |
12 | 182 | 0.0659 | -10 | c.937 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69967933 | CGTAGCGT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00673.hp2 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0008others(13): Show | a0001c0001t0006a0001c0001t0022a0001c0002t0040others(34): Show | a0001c0001t0006g0107 a0001c0001t0022g0069 a0001c0002t0040g0132 others(80): Show |
83 | 182 | 0.4560 | -10 | c.102 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69986221 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02451.hp2 others(11): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0006others(3): Show | a0002c0003t0011a0002c0003t0039a0002c0004t0001others(7): Show | a0002c0003t0011g0115 a0002c0003t0039g0127 a0002c0004t0001g0116 others(11): Show |
14 | 182 | 0.0769 | -10 | c.102 others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69986244 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18948.hp1 NA18966.hp1 others(2): Show |
a0002a0006 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0007a0002c0011t0005others(1): Show | a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0006t0007g0101 others(2): Show |
5 | 182 | 0.0275 | -10 | c.102 others(31): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70024614 | TGGGTGTG others(3): Show |
T | intron_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0034 | 1 | 182 | 0.0055 | -10 | c.108 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 12/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70026031 | TGGGCTCT others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02886.hp1 HG02895.hp2 others(4): Show |
a0002a0003a0010 | a0002c0003a0002c0004a0003c0010others(1): Show | a0002c0003t0039a0002c0004t0006a0003c0010t0013others(2): Show | a0002c0003t0039g0127 a0002c0004t0006g0108 a0002c0004t0006g0109 others(4): Show |
7 | 182 | 0.0385 | -10 | c.108 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 12/50 | chr6 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 70077673 | CACTAGAA others(3): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0039 | a0002c0003t0039g0127 | 1 | 182 | 0.0055 | -10 | c.122 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |