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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG7_chr16_23383493_23458189 | 23424231 | A | AGGTTGTG | intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0143 |
4 | 270 | 0.0148 | 7 | c.100 others(24): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 7/16 | chr16 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102967227 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00735.hp1 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0009a0002c0001others(7): Show | a0001c0002t0003a0001c0009t0001a0002c0001t0001others(8): Show | a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 others(25): Show |
28 | 40 | 0.7000 | 7 | c.286 others(26): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 37/66 | chr1 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 102971866 | T | TCAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0001a0003 | a0001c0008a0003c0026 | a0001c0008t0006a0003c0026t0002 | a0001c0008t0006g0001 a0001c0008t0006g0002 a0001c0008t0006g0003 others(4): Show |
7 | 182 | 0.0385 | 7 | c.280 others(26): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 36/66 | chr1 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69804809 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01123.hp1 others(15): Show |
a0001a0009 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(15): Show |
18 | 20 | 0.9000 | 7 | c.294 others(24): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69858115 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0043 others(68): Show |
71 | 117 | 0.6068 | 7 | c.365 others(24): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120224023 | C | CTTTTTTT | intron_variant | MODIFIER | HG01943.hp2 HG02451.hp1 HG02622.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0002c0006others(3): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0003t0001g0128 a0002c0002t0001g0019 a0002c0002t0002g0163 others(4): Show |
7 | 50 | 0.1400 | 7 | c.173 others(26): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120298597 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 NA21309.hp1 |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0011 | a0001c0003t0002a0002c0002t0001a0005c0011t0004 | a0001c0003t0002g0092 a0002c0002t0001g0097 a0005c0011t0004g0211 |
3 | 19 | 0.1579 | 7 | c.431 others(26): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | chr8 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120334583 | A | ACACACAC | intron_variant | MODIFIER | HG02145.hp2 HG03516.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0019a0002c0002t0001 | a0001c0003t0019g0057 a0002c0002t0001g0210 |
2 | 109 | 0.0183 | 7 | c.478 others(26): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | chr8 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99011423 | A | AAAAAAAC | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01081.hp2 others(30): Show |
a0002a0003a0004others(8): Show | a0002c0003a0003c0004a0003c0006others(9): Show | a0002c0003t0002a0002c0003t0003a0003c0004t0001others(12): Show | a0002c0003t0002g0179 a0002c0003t0002g0184 a0002c0003t0002g0223 others(30): Show |
33 | 153 | 0.2157 | 7 | c.135 others(26): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02155.hp1 others(4): Show |
a0002a0006a0026others(1): Show | a0002c0010a0006c0007a0026c0053others(1): Show | a0002c0010t0001a0006c0007t0001a0026c0053t0001others(1): Show | a0002c0010t0001g0008 a0002c0010t0001g0145 a0002c0010t0001g0161 others(4): Show |
7 | 241 | 0.0290 | 7 | c.185 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99034624 | T | TCTCCCTC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(245): Show |
a0001a0002a0003others(49): Show | a0001c0001a0001c0013a0001c0031others(73): Show | a0001c0001t0002a0001c0013t0001a0001c0031t0001others(85): Show | a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0059 others(245): Show |
248 | 308 | 0.8052 | 7 | c.207 others(22): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 17/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02572.hp2 others(8): Show |
a0001a0003a0004others(3): Show | a0001c0031a0003c0006a0004c0005others(3): Show | a0001c0031t0001a0003c0006t0001a0004c0005t0001others(3): Show | a0001c0031t0001g0205 a0003c0006t0001g0081 a0003c0006t0001g0085 others(8): Show |
11 | 114 | 0.0965 | 7 | c.365 others(24): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45490052 | C | CCCCCACT | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03130.hp1 others(1): Show |
a0001a0007 | a0001c0066a0007c0018 | a0001c0066t0005a0007c0018t0005 | a0001c0066t0005g0036 a0007c0018t0005g0045 a0007c0018t0005g0110 others(1): Show |
4 | 233 | 0.0172 | 7 | c.196 others(24): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45490057 | A | ACTCCCCC | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02717.hp2 |
a0008a0020 | a0008c0038a0008c0101a0020c0093 | a0008c0038t0001a0008c0101t0002a0020c0093t0015 | a0008c0038t0001g0054 a0008c0101t0002g0003 a0020c0093t0015g0173 |
3 | 284 | 0.0106 | 7 | c.196 others(24): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45490660 | G | GGGTCTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(95): Show |
a0001a0002a0005others(12): Show | a0001c0004a0001c0005a0001c0007others(42): Show | a0001c0004t0001a0001c0004t0003a0001c0004t0008others(48): Show | a0001c0004t0001g0059 a0001c0004t0001g0063 a0001c0004t0001g0064 others(95): Show |
98 | 284 | 0.3451 | 7 | c.203 others(24): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 20/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45494244 | G | GCCCTCCA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(150): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(72): Show | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0122 others(150): Show |
153 | 290 | 0.5276 | 7 | c.235 others(24): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 26/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45504919 | A | AGGTCTCT | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(164): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(61): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(71): Show | a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0073 others(164): Show |
167 | 290 | 0.5759 | 7 | c.286 others(24): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 34/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69896543 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG02572.hp1 others(7): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0022a0001c0002t0002a0001c0002t0008others(7): Show | a0001c0001t0022g0069 a0001c0002t0002g0059 a0001c0002t0008g0160 others(7): Show |
10 | 30 | 0.3333 | 7 | c.92- others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920983 | T | TATATATC | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0006a0002c0003t0012a0002c0003t0018others(6): Show | a0001c0001t0006g0107 a0002c0003t0012g0010 a0002c0003t0018g0014 others(9): Show |
12 | 177 | 0.0678 | 7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921356 | A | AATCATAT | intron_variant | MODIFIER | HG01069.hp2 HG02970.hp1 NA20129.hp2 |
a0001a0002 | a0001c0002a0001c0008a0002c0009 | a0001c0002t0040a0001c0008t0014a0002c0009t0014 | a0001c0002t0040g0132 a0001c0008t0014g0136 a0002c0009t0014g0012 |
3 | 175 | 0.0171 | 7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69921420 | T | TATATATC | 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 | 176 | 0.0341 | 7 | c.267 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69989553 | C | CTTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02451.hp2 others(19): Show |
a0002a0004a0009others(1): Show | a0002c0003a0002c0004a0002c0006others(5): Show | a0002c0003t0002a0002c0003t0011a0002c0003t0012others(12): Show | a0002c0003t0002g0175 a0002c0003t0011g0115 a0002c0003t0012g0010 others(19): Show |
22 | 118 | 0.1864 | 7 | c.102 others(28): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 70016394 | A | ACACACAT | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp2 |
a0003 | a0003c0010 | a0003c0010t0013a0003c0010t0027 | a0003c0010t0013g0172 a0003c0010t0027g0119 |
2 | 180 | 0.0111 | 7 | c.102 others(26): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | chr6 | TogoVar | |||||||
COL1A2_chr7_94389895_94436227 | 94431047 | A | AGTTGTCC | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(371): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(49): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 others(220): Show |
374 | 436 | 0.8578 | 7 | c.*65 others(16): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 52/52 | 655 | chr7 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098552 | T | TATAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG01515.hp2 HG02572.hp1 |
a0001a0006a0009 | a0001c0002a0006c0011a0009c0012 | a0001c0002t0002a0006c0011t0004a0009c0012t0004 | a0001c0002t0002g0196 a0006c0011t0004g0091 a0009c0012t0004g0030 |
3 | 262 | 0.0115 | 7 | c.181 others(26): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56185426 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0015a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0130 others(29): Show |
32 | 102 | 0.3137 | 7 | c.-38 others(24): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138652735 | G | GTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01943.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0028others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0003g0002 others(12): Show |
15 | 49 | 0.3061 | 7 | c.333 others(26): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138658866 | A | ATCTTCTC | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02809.hp2 others(3): Show |
a0001a0002a0006 | a0001c0006a0001c0008a0001c0010others(3): Show | a0001c0006t0001a0001c0008t0002a0001c0010t0001others(3): Show | a0001c0006t0001g0064 a0001c0008t0002g0088 a0001c0010t0001g0109 others(3): Show |
6 | 122 | 0.0492 | 7 | c.328 others(26): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 44/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG02559.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0012others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0001g0094 a0001c0002t0002g0044 a0001c0002t0003g0009 others(7): Show |
10 | 74 | 0.1351 | 7 | c.214 others(26): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138762609 | C | CACACACA | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0081 others(53): Show |
56 | 156 | 0.3590 | 7 | c.180 others(24): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 16/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902731 | T | TATATATA | intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003 | a0001c0001t0002g0020 a0002c0003t0003g0004 a0002c0003t0003g0012 |
3 | 152 | 0.0197 | 7 | c.-73 others(26): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138902731 | T | TATATCTA | intron_variant | MODIFIER | HG02630.hp1 HG02970.hp2 HG03453.hp2 others(1): Show |
a0001a0002a0003 | a0001c0027a0002c0004a0003c0033 | a0001c0027t0001a0001c0027t0002a0002c0004t0008others(1): Show | a0001c0027t0001g0023 a0001c0027t0002g0021 a0002c0004t0008g0022 others(1): Show |
4 | 153 | 0.0261 | 7 | c.-73 others(26): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178547196 | G | GTATCTGA | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp2 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0003a0001c0005t0002a0002c0003t0001others(2): Show | a0001c0001t0003g0123 a0001c0001t0003g0169 a0001c0005t0002g0120 others(3): Show |
6 | 236 | 0.0254 | 7 | c.361 others(26): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85821330 | C | CTTCTTCA | intron_variant | MODIFIER | HG02572.hp2 HG03579.hp2 |
a0014 | a0014c0020 | a0014c0020t0002 | a0014c0020t0002g0173 a0014c0020t0002g0174 |
2 | 236 | 0.0085 | 7 | c.378 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 45/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85945019 | T | TTTGTTTG | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01071.hp1 others(8): Show |
a0002a0003a0004others(5): Show | a0002c0007a0003c0003a0004c0002others(5): Show | a0002c0007t0001a0002c0007t0003a0003c0003t0002others(6): Show | a0002c0007t0001g0075 a0002c0007t0003g0074 a0003c0003t0002g0145 others(8): Show |
11 | 165 | 0.0667 | 7 | c.256 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85945019 | T | TTTTTTTG | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01106.hp1 others(39): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0066a0002c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0038 a0001c0001t0001g0099 a0001c0001t0001g0100 others(39): Show |
42 | 196 | 0.2143 | 7 | c.256 others(28): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86108620 | T | TAAAGAAA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01192.hp1 others(8): Show |
a0002a0015a0016others(1): Show | a0002c0007a0002c0027a0002c0056others(3): Show | a0002c0007t0002a0002c0027t0002a0002c0056t0001others(3): Show | a0002c0007t0002g0076 a0002c0007t0002g0084 a0002c0007t0002g0085 others(8): Show |
11 | 21 | 0.5238 | 7 | c.159 others(26): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108806518 | C | CTTTCTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(11): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0063 others(42): Show |
45 | 126 | 0.3571 | 7 | c.*74 others(18): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 2206 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108807839 | T | TATATATA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0010t0003 | a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0105 others(4): Show |
7 | 89 | 0.0787 | 7 | c.*60 others(18): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 885 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108869222 | A | AAATAAAT | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG02976.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0011 | a0001c0001t0002a0001c0003t0004a0003c0011t0007 | a0001c0001t0002g0094 a0001c0001t0002g0126 a0001c0003t0004g0001 others(1): Show |
4 | 122 | 0.0328 | 7 | c.102 others(22): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 19/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108936800 | A | ATATATAT | intron_variant | MODIFIER | HG02071.hp1 HG02165.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0004 | a0001c0001t0007g0090 a0001c0002t0004g0011 |
2 | 36 | 0.0556 | 7 | c.708 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 11/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109012009 | A | AAGGTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02109.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0068 others(15): Show |
18 | 130 | 0.1385 | 7 | c.421 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109057421 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0002g0113 others(4): Show |
7 | 16 | 0.4375 | 7 | c.368 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101363528 | T | TGGGGCGC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(11): Show | a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 others(44): Show |
47 | 172 | 0.2733 | 7 | c.158 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101392911 | C | CCTGTGAA | intron_variant | MODIFIER | HG00621.hp2 HG02109.hp2 HG02809.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0115 a0001c0001t0002g0113 a0001c0001t0002g0114 others(14): Show |
17 | 172 | 0.0988 | 7 | c.159 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101429589 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0115 a0001c0001t0002g0138 a0001c0001t0002g0146 others(24): Show |
27 | 46 | 0.5870 | 7 | c.281 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101490983 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02818.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0005t0023others(3): Show | a0001c0001t0002g0166 a0001c0001t0002g0169 a0001c0001t0008g0126 others(4): Show |
7 | 83 | 0.0843 | 7 | c.386 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp1 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0002c0003t0001 | a0001c0001t0002g0064 a0001c0001t0002g0086 a0001c0001t0008g0110 others(4): Show |
7 | 108 | 0.0648 | 7 | c.386 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114261300 | T | TCGAGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(120): Show |
a0001a0002a0003others(29): Show | a0001c0002a0001c0003a0001c0016others(80): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(100): Show | a0001c0002t0001g0121 a0001c0002t0002g0001 a0001c0002t0002g0046 others(119): Show |
123 | 306 | 0.4020 | 7 | c.319 others(26): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 28/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114269634 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0004others(9): Show | a0001c0002a0001c0016a0001c0139others(17): Show | a0001c0002t0023a0001c0016t0001a0001c0016t0012others(18): Show | a0001c0002t0023g0037 a0001c0016t0001g0247 a0001c0016t0012g0144 others(20): Show |
23 | 196 | 0.1173 | 7 | c.355 others(24): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 35/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |