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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL11A1_chr1_102871473_103113522 | 103083248 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01952.hp2 HG04228.hp1 others(2): Show |
a0002a0003a0011others(1): Show | a0002c0001a0003c0003a0011c0030others(1): Show | a0002c0001t0001a0003c0003t0002a0011c0030t0002others(1): Show | a0002c0001t0001g0168 a0003c0003t0002g0123 a0003c0003t0002g0133 others(2): Show |
5 | 184 | 0.0272 | 8 | c.107 others(23): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 1/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103086409 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0005a0002c0024a0003c0023others(3): Show | a0001c0005t0005a0001c0005t0012a0002c0024t0002others(4): Show | a0001c0005t0005g0061 a0001c0005t0005g0070 a0001c0005t0005g0071 others(12): Show |
15 | 184 | 0.0815 | 8 | c.107 others(25): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 1/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103111808 | T | TATAGATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0006others(12): Show | a0001c0002t0003a0001c0005t0005a0001c0006t0001others(12): Show | a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0048 others(19): Show |
22 | 184 | 0.1196 | 8 | c.-36 others(19): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 3287 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103111839 | A | AGATAGAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00621.hp2 others(33): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0001a0001c0004t0004a0001c0005t0005others(11): Show | a0001c0002t0001g0069 a0001c0004t0004g0084 a0001c0004t0004g0085 others(33): Show |
36 | 184 | 0.1957 | 8 | c.-36 others(19): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 3318 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75085406 | G | GCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01071.hp1 others(13): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0019others(11): Show | a0001c0001t0021a0001c0005t0005a0001c0019t0005others(11): Show | a0001c0001t0021g0201 a0001c0005t0005g0129 a0001c0005t0005g0170 others(13): Show |
16 | 206 | 0.0777 | 8 | c.*11 others(19): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 66/66 | 1140 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208158 | C | CTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18944.hp1 |
a0001a0003 | a0001c0005a0003c0003 | a0001c0005t0002a0003c0003t0002 | a0001c0005t0002g0098 a0003c0003t0002g0100 |
2 | 206 | 0.0097 | 8 | c.-24 others(19): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2106 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208162 | C | CTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 NA18906.hp2 |
a0003a0004 | a0003c0003a0004c0012 | a0003c0003t0003a0004c0012t0011 | a0003c0003t0003g0156 a0004c0012t0011g0005 |
2 | 206 | 0.0097 | 8 | c.-24 others(19): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2110 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208164 | C | CTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 NA18994.hp2 |
a0002a0013 | a0002c0002a0013c0048 | a0002c0002t0001a0013c0048t0001 | a0002c0002t0001g0113 a0013c0048t0001g0117 |
2 | 206 | 0.0097 | 8 | c.-24 others(19): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2112 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69858115 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0056 a0001c0001t0001g0064 others(14): Show |
17 | 324 | 0.0525 | 8 | c.365 others(25): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69865092 | A | AGACCCCA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(115): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(24): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 others(115): Show |
118 | 324 | 0.3642 | 8 | c.365 others(25): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69885186 | A | ACTTCTCC others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03486.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0002a0001c0002t0014a0002c0005t0001 | a0001c0002t0002g0206 a0001c0002t0014g0292 a0002c0005t0001g0167 |
3 | 324 | 0.0093 | 8 | c.514 others(25): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 7/40 | chr10 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120166875 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG02257.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0180 a0001c0001t0002g0053 a0001c0001t0010g0005 others(7): Show |
10 | 218 | 0.0459 | 8 | c.350 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120173564 | C | CATCTATC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG01106.hp2 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0117 others(41): Show |
44 | 218 | 0.2018 | 8 | c.436 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120173648 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01261.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0115 a0001c0001t0002g0082 others(13): Show |
16 | 218 | 0.0734 | 8 | c.436 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120177694 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01169.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0034 a0001c0001t0001g0036 others(8): Show |
11 | 218 | 0.0505 | 8 | c.436 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120184224 | G | GATTTATT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01070.hp1 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0031others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0117 a0001c0001t0001g0154 a0001c0001t0001g0165 others(23): Show |
26 | 218 | 0.1193 | 8 | c.437 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01261.hp2 HG02132.hp1 others(11): Show |
a0001a0002a0012 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0137 a0001c0001t0001g0154 a0001c0001t0002g0032 others(11): Show |
14 | 218 | 0.0642 | 8 | c.878 others(23): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120221560 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01192.hp1 others(40): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0063 a0001c0001t0001g0081 a0001c0001t0002g0023 others(40): Show |
43 | 218 | 0.1973 | 8 | c.173 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120224023 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0113 others(75): Show |
78 | 218 | 0.3578 | 8 | c.173 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120275523 | C | CTAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01261.hp2 HG02615.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0013a0002c0006a0003c0010others(2): Show | a0001c0013t0004a0002c0006t0001a0002c0006t0006others(3): Show | a0001c0013t0004g0085 a0002c0006t0001g0028 a0002c0006t0006g0213 others(5): Show |
8 | 218 | 0.0367 | 8 | c.321 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298597 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0086 a0001c0001t0001g0115 a0001c0001t0001g0134 others(30): Show |
33 | 218 | 0.1514 | 8 | c.431 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298597 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01433.hp2 HG02071.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0146 a0001c0001t0002g0016 a0001c0001t0002g0032 others(2): Show |
5 | 218 | 0.0229 | 8 | c.431 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298638 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0007t0002 | a0001c0001t0002g0023 a0001c0001t0003g0043 a0001c0007t0002g0066 |
3 | 218 | 0.0138 | 8 | c.431 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120334583 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01106.hp2 others(10): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0103 others(10): Show |
13 | 218 | 0.0596 | 8 | c.478 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120334585 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01975.hp2 HG01978.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0007a0002c0002others(2): Show | a0001c0003t0013a0001c0007t0002a0002c0002t0001others(3): Show | a0001c0003t0013g0190 a0001c0007t0002g0066 a0002c0002t0001g0126 others(6): Show |
9 | 218 | 0.0413 | 8 | c.478 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98950550 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG01109.hp2 others(41): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0003others(21): Show | a0001c0001t0002a0002c0002t0001a0002c0003t0002others(22): Show | a0001c0001t0002g0052 a0001c0001t0002g0102 a0001c0001t0002g0113 others(41): Show |
44 | 310 | 0.1419 | 8 | c.100 others(25): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01074.hp2 others(11): Show |
a0002a0003a0004others(8): Show | a0002c0002a0003c0004a0003c0006others(10): Show | a0002c0002t0001a0003c0004t0002a0003c0006t0001others(10): Show | a0002c0002t0001g0302 a0002c0002t0001g0305 a0003c0004t0002g0299 others(11): Show |
14 | 310 | 0.0452 | 8 | c.100 others(25): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 NA18983.hp2 others(2): Show |
a0002a0004a0031 | a0002c0002a0002c0010a0004c0005others(1): Show | a0002c0002t0001a0002c0010t0001a0004c0005t0001others(1): Show | a0002c0002t0001g0007 a0002c0010t0001g0008 a0002c0010t0001g0170 others(2): Show |
5 | 310 | 0.0161 | 8 | c.100 others(25): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98989023 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG01928.hp1 others(14): Show |
a0003a0004a0005others(2): Show | a0003c0004a0003c0006a0004c0005others(3): Show | a0003c0004t0002a0003c0006t0001a0004c0005t0001others(3): Show | a0003c0004t0002g0271 a0003c0004t0002g0275 a0003c0004t0002g0303 others(14): Show |
17 | 310 | 0.0548 | 8 | c.724 others(23): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 4/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99011423 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02257.hp1 others(3): Show |
a0003a0004a0009others(2): Show | a0003c0006a0004c0005a0009c0012others(2): Show | a0003c0006t0001a0004c0005t0001a0009c0012t0002others(2): Show | a0003c0006t0001g0269 a0004c0005t0001g0261 a0009c0012t0002g0087 others(3): Show |
6 | 310 | 0.0194 | 8 | c.135 others(27): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99073048 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01496.hp1 HG01928.hp1 others(3): Show |
a0005a0010a0011 | a0005c0015a0005c0061a0010c0011others(2): Show | a0005c0015t0001a0005c0061t0001a0010c0011t0001others(2): Show | a0005c0015t0001g0154 a0005c0015t0001g0163 a0005c0061t0001g0041 others(3): Show |
6 | 310 | 0.0194 | 8 | c.*31 others(19): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2262 | chr9 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104055444 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0014others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(67): Show |
80 | 336 | 0.2381 | 8 | c.168 others(23): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 18/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45405285 | C | CGGCTGCG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01496.hp1 others(32): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(16): Show | a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0001g0187 others(32): Show |
35 | 292 | 0.1199 | 8 | c.11+ others(19): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405298 | C | CGCGGGGC others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02083.hp1 HG02273.hp1 others(3): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0008others(3): Show | a0001c0001t0001a0001c0006t0003a0001c0008t0002others(3): Show | a0001c0001t0001g0258 a0001c0006t0003g0259 a0001c0008t0002g0260 others(3): Show |
6 | 292 | 0.0206 | 8 | c.11+ others(19): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437107 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG02451.hp2 others(12): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0022a0001c0037others(6): Show | a0001c0003t0001a0001c0022t0001a0001c0037t0001others(6): Show | a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0022t0001g0008 others(12): Show |
15 | 292 | 0.0514 | 8 | 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 | 45437113 | T | TCACACTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(22): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0013a0001c0019others(14): Show | a0001c0002t0001a0001c0013t0002a0001c0013t0014others(16): Show | a0001c0002t0001g0095 a0001c0013t0002g0206 a0001c0013t0002g0207 others(22): Show |
25 | 292 | 0.0856 | 8 | 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 | 45476921 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02258.hp2 HG02559.hp1 others(8): Show |
a0002a0003a0009others(3): Show | a0002c0066a0003c0009a0003c0015others(6): Show | a0002c0066t0010a0003c0009t0001a0003c0015t0001others(6): Show | a0002c0066t0010g0066 a0003c0009t0001g0054 a0003c0015t0001g0189 others(8): Show |
11 | 292 | 0.0377 | 8 | c.928 others(23): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45514492 | G | GTGCTGAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(160): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(60): Show | a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0033 others(160): Show |
163 | 292 | 0.5582 | 8 | c.*20 others(19): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 773 | chr21 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69896543 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0002a0002c0004t0001others(1): Show | a0001c0001t0001g0180 a0002c0003t0002g0100 a0002c0003t0002g0103 others(2): Show |
5 | 182 | 0.0275 | 8 | c.92- others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69897458 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG02165.hp1 others(3): Show |
a0002a0008 | a0002c0003a0002c0004a0002c0006others(2): Show | a0002c0003t0002a0002c0004t0001a0002c0004t0011others(3): Show | a0002c0003t0002g0040 a0002c0004t0001g0036 a0002c0004t0011g0039 others(3): Show |
6 | 182 | 0.0330 | 8 | c.92- others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920995 | T | TATATATT others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02895.hp2 |
a0002a0003 | a0002c0009a0003c0010 | a0002c0009t0004a0003c0010t0013 | a0002c0009t0004g0037 a0003c0010t0013g0172 |
2 | 182 | 0.0110 | 8 | c.267 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATATATT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18948.hp1 NA18966.hp1 others(3): Show |
a0002a0012 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0006t0007others(2): Show | a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0006t0003g0098 others(3): Show |
6 | 182 | 0.0330 | 8 | c.267 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921491 | T | TATATATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp1 others(19): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0166 others(19): Show |
22 | 182 | 0.1209 | 8 | c.267 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69929155 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02886.hp1 others(9): Show |
a0002a0003 | a0002c0003a0002c0004a0002c0006others(3): Show | a0002c0003t0012a0002c0003t0018a0002c0004t0001others(6): Show | a0002c0003t0012g0010 a0002c0003t0018g0014 a0002c0004t0001g0008 others(9): Show |
12 | 182 | 0.0659 | 8 | c.391 others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 5/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69942740 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp1 HG01256.hp1 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0022others(12): Show | a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0180 others(16): Show |
19 | 182 | 0.1044 | 8 | c.936 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69989553 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(3): Show |
a0002 | a0002c0004a0002c0006a0002c0009 | a0002c0004t0001a0002c0004t0006a0002c0004t0016others(2): Show | a0002c0004t0001g0161 a0002c0004t0006g0108 a0002c0004t0016g0112 others(3): Show |
6 | 182 | 0.0330 | 8 | 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 | 70072959 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01175.hp2 others(54): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(26): Show | a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0079 others(54): Show |
57 | 182 | 0.3132 | 8 | c.122 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70181656 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG01928.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0011 | a0001c0001t0001g0047 a0001c0001t0001g0062 a0001c0001t0001g0077 others(8): Show |
11 | 182 | 0.0604 | 8 | c.277 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70195136 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp2 HG02895.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0006others(1): Show | a0001c0001t0041a0002c0004t0001a0002c0004t0012others(2): Show | a0001c0001t0041g0156 a0002c0004t0001g0008 a0002c0004t0012g0159 others(3): Show |
6 | 182 | 0.0330 | 8 | c.309 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 48/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94393451 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 HG03139.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0113 a0001c0001t0005g0082 a0001c0008t0001g0005 |
3 | 438 | 0.0069 | 8 | c.-15 others(19): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1443 | chr7 | TogoVar |