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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL19A1_chr6_69861556_70217468 | 69986221 | TTATATA | T | intron_variant | MODIFIER | HG01978.hp1 NA18949.hp2 NA20905.hp2 |
a0001a0002a0005 | a0001c0008a0002c0009a0005c0013 | a0001c0008t0030a0002c0009t0004a0005c0013t0002 | a0001c0008t0030g0082 a0002c0009t0004g0031 a0005c0013t0002g0171 |
3 | 182 | 0.0165 | -6 | c.102 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69986248 | TATATAC | T | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp1 HG02896.hp1 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0018a0002c0004t0001a0002c0004t0012others(2): Show | a0002c0003t0018g0138 a0002c0004t0001g0161 a0002c0004t0012g0159 others(4): Show |
7 | 182 | 0.0385 | -6 | c.102 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69996016 | AGCAGGG | A | intron_variant | MODIFIER | HG00408.hp1 NA18948.hp1 NA18966.hp1 others(3): Show |
a0002a0006 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0006t0007others(2): Show | a0002c0003t0002g0100 a0002c0003t0002g0103 a0002c0006t0003g0098 others(3): Show |
6 | 182 | 0.0330 | -6 | c.102 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69997044 | GAGAGAA | G | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0003a0010 | a0003c0010a0010c0021 | a0003c0010t0013a0003c0010t0027a0010c0021t0001 | a0003c0010t0013g0172 a0003c0010t0013g0173 a0003c0010t0027g0119 others(1): Show |
4 | 182 | 0.0220 | -6 | c.102 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70024610 | TGTGTGG | T | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01167.hp1 others(6): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0021others(4): Show | a0002c0003t0002g0032 a0002c0003t0002g0042 a0002c0003t0002g0045 others(6): Show |
9 | 182 | 0.0495 | -6 | c.108 others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 12/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70109541 | AGTGTGT | A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00673.hp2 others(35): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(18): Show | a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0006g0107 others(35): Show |
38 | 182 | 0.2088 | -6 | c.127 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70127777 | CACAGGA | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00741.hp1 others(68): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0022others(25): Show | a0001c0001t0001g0016 a0001c0001t0001g0047 a0001c0001t0001g0053 others(68): Show |
71 | 182 | 0.3901 | -6 | c.134 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 17/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70195136 | GATATAT | G | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG01952.hp2 others(17): Show |
a0001a0002a0012 | a0001c0008a0001c0015a0002c0009others(1): Show | a0001c0008t0001a0001c0008t0004a0001c0008t0014others(6): Show | a0001c0008t0001g0005 a0001c0008t0004g0004 a0001c0008t0004g0060 others(17): Show |
20 | 182 | 0.1099 | -6 | c.309 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 48/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94396314 | TTGTGTG | T | intron_variant | MODIFIER | HG03927.hp1 NA18986.hp1 NA19000.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0003 | a0001c0005t0001g0074 a0001c0005t0003g0034 |
3 | 438 | 0.0069 | -6 | c.70+ others(21): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94435083 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG02040.hp1 HG02132.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0208 a0001c0003t0002g0058 others(3): Show |
8 | 438 | 0.0183 | -6 | c.*46 others(17): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 3857 | chr7 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56053862 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01358.hp1 HG01496.hp2 others(7): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0024others(3): Show | a0001c0001t0011a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0001t0011g0025 a0001c0002t0002g0126 a0001c0002t0002g0134 others(7): Show |
10 | 264 | 0.0379 | -6 | c.*37 others(17): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098650 | TATATAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0001a0002a0004 | a0001c0007a0002c0008a0004c0004others(1): Show | a0001c0007t0002a0001c0007t0004a0002c0008t0001others(3): Show | a0001c0007t0002g0261 a0001c0007t0002g0262 a0001c0007t0004g0065 others(7): Show |
10 | 264 | 0.0379 | -6 | c.181 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56116396 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01192.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0014a0003c0005others(1): Show | a0001c0001t0014a0001c0014t0010a0003c0005t0007others(2): Show | a0001c0001t0014g0087 a0001c0014t0010g0010 a0003c0005t0007g0119 others(10): Show |
13 | 264 | 0.0492 | -6 | c.175 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56164904 | CATCCAG | C | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(8): Show |
a0004a0007 | a0004c0004a0004c0016a0007c0010 | a0004c0004t0002a0004c0004t0004a0004c0004t0013others(3): Show | a0004c0004t0002g0103 a0004c0004t0002g0106 a0004c0004t0004g0026 others(8): Show |
11 | 264 | 0.0417 | -6 | c.127 others(21): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56165907 | TACACAC | T | intron_variant | MODIFIER | HG02040.hp2 HG02132.hp2 HG02155.hp1 others(3): Show |
a0001a0002 | a0001c0024a0002c0003 | a0001c0024t0022a0002c0003t0001a0002c0003t0003 | a0001c0024t0022g0148 a0002c0003t0001g0108 a0002c0003t0001g0109 others(3): Show |
6 | 264 | 0.0227 | -6 | c.127 others(23): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAAT | A | intron_variant | MODIFIER | HG00408.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0222 a0001c0002t0002g0195 a0001c0002t0002g0196 others(1): Show |
4 | 264 | 0.0152 | -6 | c.-38 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138623262 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0083 a0001c0001t0002g0017 a0001c0001t0003g0003 others(17): Show |
20 | 158 | 0.1266 | -6 | c.377 others(23): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138652735 | GTTTTTT | G | intron_variant | MODIFIER | HG02486.hp2 HG02735.hp1 HG03017.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0002c0005others(3): Show | a0001c0002t0001a0002c0003t0003a0002c0005t0001others(5): Show | a0001c0002t0001g0100 a0002c0003t0003g0001 a0002c0005t0001g0074 others(7): Show |
10 | 158 | 0.0633 | -6 | c.333 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138660813 | CACACAT | C | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp1 HG03453.hp2 |
a0001a0009 | a0001c0012a0001c0027a0009c0047 | a0001c0012t0001a0001c0027t0001a0009c0047t0001 | a0001c0012t0001g0037 a0001c0027t0001g0024 a0009c0047t0001g0098 |
3 | 158 | 0.0190 | -6 | c.324 others(23): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138664207 | GCGCACA | G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02630.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0010a0001c0018a0001c0024others(5): Show | a0001c0010t0007a0001c0018t0004a0001c0024t0016others(5): Show | a0001c0010t0007g0155 a0001c0018t0004g0086 a0001c0024t0016g0158 others(5): Show |
8 | 158 | 0.0506 | -6 | c.315 others(23): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138664209 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01106.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0016others(2): Show | a0001c0002t0003a0001c0006t0001a0001c0016t0001others(2): Show | a0001c0002t0003g0009 a0001c0006t0001g0054 a0001c0016t0001g0063 others(2): Show |
5 | 158 | 0.0317 | -6 | c.315 others(23): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138692463 | ATGTGTG | A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01099.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(6): Show | a0001c0001t0001g0116 a0001c0001t0001g0129 a0001c0001t0003g0004 others(7): Show |
10 | 158 | 0.0633 | -6 | c.275 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138710597 | ATCTATC | A | intron_variant | MODIFIER | HG01099.hp1 HG01255.hp1 HG02523.hp2 others(4): Show |
a0002 | a0002c0004a0002c0007a0002c0009others(3): Show | a0002c0004t0001a0002c0007t0001a0002c0007t0005others(4): Show | a0002c0004t0001g0044 a0002c0007t0001g0081 a0002c0007t0005g0145 others(4): Show |
7 | 158 | 0.0443 | -6 | c.251 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 30/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138725752 | GACACAC | G | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG03209.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0012others(4): Show | a0001c0002t0002a0001c0008t0002a0001c0012t0005others(4): Show | a0001c0002t0002g0043 a0001c0008t0002g0133 a0001c0012t0005g0143 others(4): Show |
7 | 158 | 0.0443 | -6 | c.214 others(23): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138741955 | AGTGATG | A | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01261.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0006a0001c0008others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(31): Show | a0001c0002t0001g0069 a0001c0002t0002g0029 a0001c0002t0002g0043 others(34): Show |
37 | 158 | 0.2342 | -6 | c.208 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138790881 | AAGAGTT | A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01070.hp1 others(54): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(31): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(41): Show | a0001c0001t0001g0083 a0001c0001t0001g0116 a0001c0002t0001g0016 others(54): Show |
57 | 158 | 0.3608 | -6 | c.159 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138840588 | GTTATTA | G | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0008a0001c0010a0001c0024 | a0001c0008t0001a0001c0008t0002a0001c0010t0007others(1): Show | a0001c0008t0001g0041 a0001c0008t0002g0096 a0001c0008t0002g0133 others(2): Show |
5 | 158 | 0.0317 | -6 | c.733 others(23): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 4/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138856591 | TGAGAGA | T | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 |
a0002 | a0002c0009a0002c0025 | a0002c0009t0001a0002c0025t0004 | a0002c0009t0001g0104 a0002c0025t0004g0103 |
2 | 158 | 0.0127 | -6 | c.659 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 3/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | ACTCTCT | A | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG01261.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0004t0001others(6): Show | a0001c0001t0004g0111 a0001c0001t0007g0008 a0001c0001t0007g0118 others(14): Show |
17 | 236 | 0.0720 | -6 | c.105 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178302054 | TGCTGCA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0005others(7): Show | a0001c0001t0003g0006 a0001c0001t0003g0122 a0001c0001t0003g0142 others(17): Show |
20 | 236 | 0.0848 | -6 | c.406 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178357910 | GTGTGTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(50): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0199 a0001c0001t0002g0049 a0001c0001t0002g0083 others(50): Show |
53 | 236 | 0.2246 | -6 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358302 | ATGTATG | A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02965.hp1 others(5): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0119 a0001c0001t0005g0113 a0001c0001t0005g0144 others(5): Show |
8 | 236 | 0.0339 | -6 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358310 | GTGTGTA | G | intron_variant | MODIFIER | HG00639.hp1 HG03831.hp2 NA18999.hp2 others(1): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0010 | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0002g0058 a0001c0001t0004g0164 a0002c0002t0001g0180 others(1): Show |
4 | 236 | 0.0170 | -6 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178365136 | CGTGTGT | C | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp2 |
a0002 | a0002c0003a0002c0014 | a0002c0003t0002a0002c0014t0003 | a0002c0003t0002g0121 a0002c0014t0003g0124 |
2 | 236 | 0.0085 | -6 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178380393 | TTGTGTG | T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02647.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0003a0001c0001t0005a0002c0003t0001others(3): Show | a0001c0001t0003g0119 a0001c0001t0005g0113 a0001c0001t0005g0144 others(4): Show |
7 | 236 | 0.0297 | -6 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178408975 | TACACAC | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01168.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0175 a0001c0001t0002g0202 a0001c0001t0003g0170 others(17): Show |
20 | 236 | 0.0848 | -6 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178409017 | CACACAT | C | intron_variant | MODIFIER | HG01517.hp2 HG03654.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0002 | a0002c0002t0001g0064 a0002c0003t0002g0034 |
2 | 236 | 0.0085 | -6 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG01433.hp2 HG01517.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0021others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0153 a0001c0001t0004g0087 a0001c0001t0005g0113 others(5): Show |
8 | 236 | 0.0339 | -6 | c.361 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178517873 | CTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02572.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0004t0001others(9): Show | a0001c0001t0003g0119 a0001c0001t0003g0170 a0001c0001t0003g0212 others(14): Show |
17 | 236 | 0.0720 | -6 | c.361 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523197 | TATATAG | T | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0005 | a0001c0001t0003g0170 a0002c0003t0005g0151 |
2 | 236 | 0.0085 | -6 | c.361 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178584308 | CCACACA | C | intron_variant | MODIFIER | HG01517.hp1 HG01884.hp1 HG02258.hp1 others(6): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0004t0005others(2): Show | a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 others(6): Show |
9 | 236 | 0.0381 | -6 | c.294 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178593048 | TAGAAGC | T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(102): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0021others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0002 a0001c0001t0001g0199 a0001c0001t0002g0148 others(102): Show |
105 | 236 | 0.4449 | -6 | c.-28 others(17): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2656 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85764455 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(24): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0001c0066others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(18): Show | a0001c0001t0001g0174 a0001c0001t0002g0155 a0001c0005t0003g0060 others(24): Show |
27 | 238 | 0.1135 | -6 | c.437 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85766385 | AAAAAAG | A | intron_variant | MODIFIER | HG02129.hp2 HG02572.hp2 HG03579.hp2 others(2): Show |
a0001a0005a0014 | a0001c0001a0005c0004a0014c0020 | a0001c0001t0002a0005c0004t0002a0014c0020t0002 | a0001c0001t0002g0117 a0005c0004t0002g0182 a0014c0020t0002g0171 others(2): Show |
5 | 238 | 0.0210 | -6 | c.437 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85767103 | CAATAAT | C | intron_variant | MODIFIER | HG02615.hp1 NA19240.hp2 |
a0004a0006 | a0004c0002a0006c0062 | a0004c0002t0004a0006c0062t0001 | a0004c0002t0004g0215 a0006c0062t0001g0094 |
2 | 238 | 0.0084 | -6 | c.437 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85790657 | TTACGTA | T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(124): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0005a0002c0003others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(59): Show | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0159 others(124): Show |
127 | 238 | 0.5336 | -6 | c.395 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85793918 | TAAAAAC | T | intron_variant | MODIFIER | HG01123.hp2 HG01517.hp1 HG02083.hp1 others(8): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0003a0004c0002others(7): Show | a0001c0001t0001a0002c0003t0002a0004c0002t0001others(8): Show | a0001c0001t0001g0159 a0002c0003t0002g0143 a0004c0002t0001g0154 others(8): Show |
11 | 238 | 0.0462 | -6 | c.395 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85794761 | ATATAAT | A | intron_variant | MODIFIER | HG01243.hp2 HG01934.hp2 HG01981.hp1 others(32): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0066a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0066t0001others(18): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0114 others(32): Show |
35 | 238 | 0.1471 | -6 | c.395 others(25): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85797207 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG02074.hp1 HG02074.hp2 others(2): Show |
a0001a0003a0010 | a0001c0001a0003c0007a0010c0009 | a0001c0001t0001a0003c0007t0001a0010c0009t0001 | a0001c0001t0001g0193 a0003c0007t0001g0075 a0010c0009t0001g0031 others(2): Show |
5 | 238 | 0.0210 | -6 | c.395 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799379 | TAAAAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01517.hp2 others(20): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0003a0003c0016others(11): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(14): Show | a0001c0001t0001g0118 a0001c0001t0002g0219 a0002c0003t0001g0167 others(20): Show |
23 | 238 | 0.0966 | -6 | c.395 others(27): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar |