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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COBL_chr7_51011212_51321809 | 51070392 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG01975.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0010a0001c0026others(10): Show | a0001c0003t0001a0001c0010t0002a0001c0026t0001others(11): Show | a0001c0003t0001g0192 a0001c0010t0002g0073 a0001c0026t0001g0209 others(12): Show |
15 | 230 | 0.0652 | 14 | c.109 others(35): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51095562 | T | TCAAAATA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
a0001a0002a0003others(12): Show | a0001c0003a0001c0005a0001c0006others(45): Show | a0001c0003t0001a0001c0003t0002a0001c0005t0008others(62): Show | a0001c0003t0001g0001 a0001c0003t0001g0002 a0001c0003t0001g0004 others(108): Show |
111 | 230 | 0.4826 | 14 | c.958 others(33): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03041.hp2 HG03579.hp2 |
a0001a0003 | a0001c0032a0001c0033a0003c0031 | a0001c0032t0004a0001c0033t0001a0003c0031t0001 | a0001c0032t0004g0065 a0001c0033t0001g0064 a0003c0031t0001g0066 |
3 | 230 | 0.0130 | 14 | c.958 others(33): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51108917 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00733.hp1 HG04199.hp2 HG06807.hp2 others(3): Show |
a0001a0003a0008others(2): Show | a0001c0027a0003c0001a0008c0014others(2): Show | a0001c0027t0009a0003c0001t0001a0003c0001t0005others(3): Show | a0001c0027t0009g0075 a0003c0001t0001g0199 a0003c0001t0005g0043 others(3): Show |
6 | 230 | 0.0261 | 14 | c.958 others(33): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51194466 | G | GTATACAC others(7): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0160 | 1 | 230 | 0.0044 | 14 | c.246 others(29): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02523.hp1 HG02922.hp1 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0001a0007c0009t0001 | a0001c0001t0001g0070 a0001c0001t0001g0121 a0002c0002t0001g0271 others(1): Show |
4 | 478 | 0.0084 | 14 | c.629 others(31): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30895053 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 478 | 0.0021 | 14 | c.*52 others(25): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4436 | chr14 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73190196 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02723.hp2 others(3): Show |
a0002 | a0002c0001a0002c0006 | a0002c0001t0001a0002c0006t0001 | a0002c0001t0001g0004 a0002c0001t0001g0028 a0002c0001t0001g0029 others(1): Show |
6 | 428 | 0.0140 | 14 | c.-28 others(25): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 2858 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73192846 | C | CCCCGCCC others(7): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 NA18522.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0015 | 2 | 428 | 0.0047 | 14 | c.-22 others(23): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 208 | chr17 | TogoVar | |||||||
COG1_chr17_73188055_73213507 | 73207092 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00558.hp1 NA19065.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0092 a0002c0006t0001g0093 |
2 | 428 | 0.0047 | 14 | c.273 others(29): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45505589 | G | GCCACTGC others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG02965.hp2 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0004 a0002c0005t0003g0155 |
3 | 342 | 0.0088 | 14 | c.159 others(33): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45525634 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02080.hp1 HG02486.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0020 | a0001c0001t0001a0008c0020t0006 | a0001c0001t0001g0067 a0001c0001t0001g0095 a0001c0001t0001g0114 others(5): Show |
8 | 342 | 0.0234 | 14 | c.223 others(31): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70504609 | T | TAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0244 a0001c0001t0002g0245 |
2 | 354 | 0.0057 | 14 | c.106 others(33): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39651677 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01515.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0001c0001t0004a0005c0005t0003 | a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0028 others(10): Show |
13 | 370 | 0.0351 | 14 | c.-40 others(25): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 3984 | chr13 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39684243 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 370 | 0.0027 | 14 | c.788 others(31): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03209.hp2 NA18971.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0007a0003c0003t0001 | a0002c0002t0007g0332 a0003c0003t0001g0100 a0003c0003t0001g0101 |
3 | 370 | 0.0081 | 14 | c.128 others(33): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG6_chr13_39650662_39757628 | 39730773 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 370 | 0.0027 | 14 | c.182 others(33): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 272 | 0.0037 | 14 | c.147 others(33): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23409088 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03927.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0002 | a0001c0001t0002g0071 a0001c0001t0002g0080 a0001c0013t0002g0014 |
3 | 272 | 0.0110 | 14 | c.147 others(33): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102878475 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01071.hp1 others(14): Show |
a0001a0002a0003 | a0001c0002a0001c0006a0002c0001others(1): Show | a0001c0002t0003a0001c0006t0001a0002c0001t0001others(1): Show | a0001c0002t0003g0020 a0001c0002t0003g0037 a0001c0002t0003g0063 others(14): Show |
17 | 184 | 0.0924 | 14 | c.527 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102878502 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0030 | 1 | 184 | 0.0054 | 14 | c.527 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102889383 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG01358.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0016a0002c0001a0004c0007others(1): Show | a0001c0016t0001a0001c0016t0004a0002c0001t0001others(2): Show | a0001c0016t0001g0102 a0001c0016t0004g0058 a0002c0001t0001g0134 others(4): Show |
7 | 184 | 0.0380 | 14 | c.446 others(29): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 59/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102943482 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0046 | 1 | 184 | 0.0054 | 14 | c.327 others(33): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 42/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103027396 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0088 | 1 | 184 | 0.0054 | 14 | c.781 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103046277 | C | CCTGTTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(163): Show |
a0001a0002a0003others(19): Show | a0001c0002a0001c0004a0001c0005others(38): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(51): Show | a0001c0002t0001g0069 a0001c0002t0001g0095 a0001c0002t0002g0155 others(163): Show |
166 | 184 | 0.9022 | 14 | c.652 others(33): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103065522 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0065 | 1 | 184 | 0.0054 | 14 | c.651 others(31): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 4/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75140655 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG03540.hp1 |
a0001a0008a0024 | a0001c0041a0008c0051a0024c0046 | a0001c0041t0001a0008c0051t0003a0024c0046t0015 | a0001c0041t0001g0140 a0008c0051t0003g0166 a0024c0046t0015g0135 |
3 | 206 | 0.0146 | 14 | c.495 others(33): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 27/65 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208124 | T | TTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0056 | a0002c0056t0003 | a0002c0056t0003g0193 | 1 | 206 | 0.0049 | 14 | c.-23 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2072 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208152 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0027 | a0027c0015 | a0027c0015t0009 | a0027c0015t0009g0027 | 1 | 206 | 0.0049 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2100 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208156 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 206 | 0.0049 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2104 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208160 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 206 | 0.0049 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2108 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208162 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0081 |
2 | 206 | 0.0097 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2110 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208164 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA18988.hp2 NA19066.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0001 | a0001c0001t0001g0092 a0001c0001t0019g0077 a0002c0002t0001g0010 |
3 | 206 | 0.0146 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2112 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208166 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0002 | 1 | 206 | 0.0049 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2114 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208168 | C | CTCTCTCT others(7): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 206 | 0.0049 | 14 | c.-24 others(25): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69858115 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0002c0005others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0005t0003others(1): Show | a0001c0001t0001g0202 a0001c0006t0001g0008 a0001c0006t0001g0009 others(2): Show |
5 | 324 | 0.0154 | 14 | c.365 others(31): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120166875 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 218 | 0.0046 | 14 | c.350 others(31): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0031a0002c0002a0002c0034others(4): Show | a0001c0031t0002a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0031t0002g0189 a0002c0002t0001g0058 a0002c0002t0001g0080 others(11): Show |
14 | 218 | 0.0642 | 14 | c.878 others(29): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120224023 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 218 | 0.0046 | 14 | c.173 others(33): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298597 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 218 | 0.0046 | 14 | c.431 others(33): 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(7): Show |
intron_variant | MODIFIER | HG01943.hp1 HG03492.hp1 HG03492.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(2): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0001t0003g0027 a0001c0001t0003g0102 a0001c0001t0003g0159 others(5): Show |
8 | 218 | 0.0367 | 14 | c.478 others(33): 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(7): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0078 | 1 | 218 | 0.0046 | 14 | c.478 others(33): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99073048 | G | GGTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0029 | 1 | 310 | 0.0032 | 14 | c.*31 others(25): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2262 | chr9 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(7): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(25): Show |
a0002a0009a0018 | a0002c0002a0002c0004a0002c0009others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(7): Show | a0002c0002t0001g0014 a0002c0002t0001g0154 a0002c0002t0001g0170 others(22): Show |
28 | 342 | 0.0819 | 14 | c.-35 others(25): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104035851 | C | CGTATGGG others(7): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01358.hp2 others(43): Show |
a0001a0002a0005others(3): Show | a0001c0006a0001c0054a0002c0002others(4): Show | a0001c0006t0001a0001c0006t0002a0001c0054t0002others(6): Show | a0001c0006t0001g0073 a0001c0006t0002g0069 a0001c0006t0002g0070 others(35): Show |
46 | 336 | 0.1369 | 14 | c.341 others(31): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104055444 | T | TCTCACAC others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01993.hp2 others(9): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0006a0003c0003others(4): Show | a0001c0001t0001a0001c0006t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(8): Show |
12 | 336 | 0.0357 | 14 | c.168 others(29): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 18/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45485149 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 |
a0001a0014 | a0001c0003a0014c0054 | a0001c0003t0001a0014c0054t0002 | a0001c0003t0001g0221 a0014c0054t0002g0077 |
2 | 292 | 0.0069 | 14 | c.170 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45485180 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 292 | 0.0034 | 14 | c.170 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | chr21 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45489893 | C | CCCTCCCC others(7): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0093 | a0001c0093t0001 | a0001c0093t0001g0119 | 1 | 292 | 0.0034 | 14 | c.196 others(31): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45492744 | G | GCCCGCCA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(154): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0003others(70): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(78): Show | a0001c0001t0001g0033 a0001c0001t0001g0142 a0001c0001t0001g0191 others(154): Show |
157 | 292 | 0.5377 | 14 | c.221 others(29): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 24/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |