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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTRL_chr9_121069955_121182610 | 121092723 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0228 |
2 | 328 | 0.0061 | -19 | c.349 others(36): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691270 | AAAGAAAG others(12): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01106.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 others(24): Show |
27 | 275 | 0.0982 | -19 | c.-39 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691407 | GGAAGGAA others(12): Show |
G | intron_variant | MODIFIER | HG02165.hp1 HG03927.hp2 NA18960.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 others(6): Show |
9 | 357 | 0.0252 | -19 | c.-39 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691411 | GGAAGAAA others(12): Show |
G | intron_variant | MODIFIER | NA18999.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0173 |
2 | 372 | 0.0054 | -19 | c.-39 others(38): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA8_chr14_103557960_103595896 | 103563174 | AGACAAAC others(12): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0331 | 1 | 380 | 0.0026 | -19 | c.123 others(32): Show |
COA8 | ENSG00000256053.9 | transcript | ENST00000409074.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018906 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 NA19043.hp2 |
a0001 | a0001c0029a0001c0066 | a0001c0029t0003a0001c0066t0003 | a0001c0029t0003g0054 a0001c0029t0003g0169 a0001c0066t0003g0052 |
3 | 190 | 0.0158 | -19 | c.376 others(38): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51224931 | TGGGCGGC others(12): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 228 | 0.0044 | -19 | c.42- others(34): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COG4_chr16_70475571_70528554 | 70506599 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0328 a0001c0003t0001g0086 |
2 | 352 | 0.0057 | -19 | c.106 others(38): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG8_chr16_69321428_69344564 | 69332907 | TACTGGGA others(12): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 358 | 0.0028 | -19 | c.141 others(34): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 3/5 | chr16 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69889294 | ACAGGGAG others(12): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0024 | a0002c0024t0003 | a0002c0024t0003g0264 | 1 | 322 | 0.0031 | -19 | c.577 others(33): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69889308 | GGGGGGCA others(12): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(111): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(20): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 others(111): Show |
114 | 320 | 0.3563 | -19 | c.577 others(32): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45498336 | CCCCTCTC others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0008a0025others(1): Show | a0001c0009a0001c0010a0001c0015others(7): Show | a0001c0009t0001a0001c0010t0002a0001c0015t0001others(7): Show | a0001c0009t0001g0022 a0001c0009t0001g0127 a0001c0009t0001g0151 others(14): Show |
17 | 290 | 0.0586 | -19 | c.268 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45498370 | CGGTCCCC others(12): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0095 | a0001c0095t0001 | a0001c0095t0001g0006 | 1 | 285 | 0.0035 | -19 | c.268 others(36): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70166220 | GGAATCTG others(12): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0142 | 1 | 180 | 0.0056 | -19 | c.244 others(36): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 37/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63291816 | GTGACAAC others(12): Show |
G | upstream_gene_variant | MODIFIER | NA18978.hp2 | a0010 | a0010c0013 | a0010c0013t0002 | a0010c0013t0002g0141 | 1 | 288 | 0.0035 | -19 | c.-14 others(30): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1369 | chr20 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56173469 | AAAGGACT others(12): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp1 |
a0001 | a0001c0014a0001c0024 | a0001c0014t0010a0001c0024t0022 | a0001c0014t0010g0010 a0001c0024t0022g0147 |
2 | 262 | 0.0076 | -19 | c.641 others(36): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 3/29 | chr6 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178301973 | GGAGCACA others(12): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0004 | a0001c0001t0003a0002c0009t0006a0003c0004t0002 | a0001c0001t0003g0006 a0001c0001t0003g0122 a0001c0001t0003g0142 others(5): Show |
8 | 179 | 0.0447 | -19 | c.406 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178302125 | GGAGCACG others(12): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 | 1 | 236 | 0.0042 | -19 | c.406 others(36): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85809771 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0006 | a0006c0061 | a0006c0061t0003 | a0006c0061t0003g0232 | 1 | 236 | 0.0042 | -19 | c.395 others(38): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108814526 | GCAGATTT others(12): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0005 | a0001c0001t0005g0076 a0001c0005t0005g0122 |
2 | 130 | 0.0154 | -19 | c.196 others(36): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 37/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109083448 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 28 | 0.0357 | -19 | c.368 others(38): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109307178 | CTTTTTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0031 | 1 | 60 | 0.0167 | -19 | c.-50 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 4521 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101366499 | TTTTTTTT others(12): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01070.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0014others(2): Show | a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0174 others(7): Show |
10 | 172 | 0.0581 | -19 | c.158 others(36): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 189007151 | TATAGATA others(12): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0115 | 1 | 372 | 0.0027 | -19 | c.325 others(36): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227193801 | GGGAGGGA others(12): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 |
a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0111 a0010c0012t0001g0112 |
2 | 342 | 0.0058 | -19 | c.87+ others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227291574 | AAAAAACA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(74): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0042a0001c0047others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(23): Show | a0001c0001t0001g0024 a0001c0001t0002g0035 a0001c0001t0002g0049 others(74): Show |
77 | 342 | 0.2251 | -19 | c.321 others(36): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 37/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227009711 | GAGGAAAA others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0150 | 1 | 282 | 0.0035 | -19 | c.452 others(36): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 46/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227163831 | TAAAGCCC others(12): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 1 | 282 | 0.0035 | -19 | c.-10 others(36): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 1/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227164267 | TGCGCAGC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 282 | 0.0035 | -19 | c.-38 others(28): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 63 | chr2 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9964854 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01258.hp2 others(11): Show |
a0009a0010a0012others(5): Show | a0009c0007a0009c0048a0010c0015others(8): Show | a0009c0007t0010a0009c0048t0001a0010c0015t0001others(9): Show | a0009c0007t0010g0128 a0009c0048t0001g0127 a0010c0015t0001g0152 others(11): Show |
14 | 26 | 0.5385 | -19 | c.478 others(38): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 64/66 | chr19 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9990053 | CCCTGGCA others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(185): Show |
a0001a0002a0004others(52): Show | a0001c0033a0001c0040a0001c0045others(87): Show | a0001c0033t0002a0001c0040t0005a0001c0045t0001others(106): Show | a0001c0033t0002g0156 a0001c0040t0005g0164 a0001c0040t0005g0166 others(182): Show |
188 | 410 | 0.4585 | -19 | c.199 others(36): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 24/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45977838 | GGAGAGAG others(12): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02451.hp1 HG02717.hp2 others(1): Show |
a0001a0017 | a0001c0003a0001c0009a0017c0019 | a0001c0003t0003a0001c0009t0002a0017c0019t0003 | a0001c0003t0003g0124 a0001c0009t0002g0048 a0001c0009t0002g0086 others(1): Show |
4 | 126 | 0.0317 | -19 | c.-40 others(30): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3931 | chr21 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981580 | CCCCGCCC others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp1 HG01981.hp2 HG02015.hp1 others(5): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0001c0024others(3): Show | a0001c0001t0003a0001c0003t0003a0001c0024t0003others(4): Show | a0001c0001t0003g0013 a0001c0003t0003g0015 a0001c0003t0003g0019 others(5): Show |
8 | 121 | 0.0661 | -19 | c.-27 others(28): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 189 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46123900 | TGGATGGG others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0001c0006others(15): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0002others(18): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 others(123): Show |
138 | 370 | 0.3730 | -19 | c.167 others(36): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46123900 | TGGATGGG others(12): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(130): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0004a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(123): Show |
133 | 362 | 0.3674 | -19 | c.167 others(36): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130345800 | TGTGCGGC others(12): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(264): Show |
a0001a0002a0003others(83): Show | a0001c0001a0001c0014a0001c0025others(98): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(117): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(250): Show |
267 | 290 | 0.9207 | -19 | c.-19 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27801 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130450081 | CTGGGACC others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(229): Show |
a0001a0002a0004others(61): Show | a0001c0001a0001c0014a0001c0025others(73): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0112 a0001c0001t0001g0184 a0001c0001t0002g0014 others(217): Show |
232 | 290 | 0.8000 | -19 | c.657 others(38): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 36/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590293 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03486.hp1 NA21309.hp1 |
a0006a0007 | a0006c0007a0007c0017a0007c0072 | a0006c0007t0001a0007c0017t0001a0007c0072t0020 | a0006c0007t0001g0191 a0007c0017t0001g0009 a0007c0072t0020g0190 |
3 | 232 | 0.0129 | -19 | c.421 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590295 | ATATATTT others(12): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 HG04115.hp1 others(7): Show |
a0003a0004a0005others(6): Show | a0003c0004a0004c0013a0005c0003others(7): Show | a0003c0004t0002a0004c0013t0005a0005c0003t0001others(7): Show | a0003c0004t0002g0047 a0004c0013t0005g0045 a0005c0003t0001g0156 others(7): Show |
10 | 224 | 0.0446 | -19 | c.421 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590297 | ATATTTTT others(12): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG02083.hp2 others(1): Show |
a0001a0005a0006others(1): Show | a0001c0056a0005c0003a0006c0007others(1): Show | a0001c0056t0002a0005c0003t0001a0006c0007t0001others(1): Show | a0001c0056t0002g0059 a0005c0003t0001g0150 a0006c0007t0001g0122 others(1): Show |
4 | 189 | 0.0212 | -19 | c.421 others(36): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70275424 | TAAGTATA others(12): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01167.hp1 others(43): Show |
a0002a0003a0008 | a0002c0004a0002c0008a0003c0006others(2): Show | a0002c0004t0002a0002c0004t0004a0002c0008t0002others(7): Show | a0002c0004t0002g0086 a0002c0004t0004g0275 a0002c0008t0002g0072 others(39): Show |
46 | 360 | 0.1278 | -19 | c.976 others(34): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 10/37 | chr6 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119072261 | TAGCACAC others(12): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0008 a0001c0001t0003g0080 a0001c0001t0003g0081 others(2): Show |
7 | 384 | 0.0182 | -19 | c.148 others(36): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119079025 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 386 | 0.0026 | -19 | c.149 others(38): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 318100 | CCGAGTAG others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(338): Show |
a0001a0002a0003others(9): Show | a0001c0003a0001c0004a0001c0005others(23): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(229): Show | a0001c0003t0001g0238 a0001c0003t0001g0300 a0001c0003t0002g0219 others(335): Show |
341 | 364 | 0.9368 | -19 | c.*19 others(30): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 1926 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 417748 | GTCATTGC others(12): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA19030.hp2 NA21309.hp2 |
a0001a0003 | a0001c0003a0001c0005a0003c0002 | a0001c0003t0058a0001c0005t0067a0003c0002t0035 | a0001c0003t0058g0355 a0001c0005t0067g0197 a0003c0002t0035g0308 |
3 | 364 | 0.0082 | -19 | c.59- others(36): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COMMD1_chr2_61900674_62141058 | 62014542 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 3 | 0.3333 | -19 | c.462 others(38): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62122726 | AATATCTA others(12): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 others(4): Show |
7 | 284 | 0.0246 | -19 | c.463 others(38): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD6_chr13_75520214_75542841 | 75524456 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 a0001c0001t0004g0041 a0001c0001t0004g0111 others(1): Show |
11 | 13 | 0.8462 | -19 | c.*21 others(30): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 757 | chr13 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19969407 | CTTGCTTA others(12): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0001 | a0002c0001t0026 | a0002c0001t0026g0148 | 1 | 424 | 0.0024 | -19 | c.*67 others(28): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 6/6 | 673 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
COPA_chr1_160283594_160348250 | 160318473 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG03471.hp2 others(2): Show |
a0002 | a0002c0004a0002c0006a0002c0013 | a0002c0004t0004a0002c0006t0006a0002c0013t0006 | a0002c0004t0004g0073 a0002c0006t0006g0177 a0002c0006t0006g0178 others(2): Show |
5 | 364 | 0.0137 | -19 | c.707 others(36): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar |