regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG3_chr13_45459939_45541701 | 45526076 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG02630.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004a0003c0006t0015 | a0001c0001t0001g0041a0001c0001t0001g0059a0001c0001t0001g0082others(5): Show | 8 | 342 | 0.0234 | 7 | c.223 others(26): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45529443 | A | ACTAGTGT | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035a0001c0002t0001g0036a0001c0002t0001g0037 | 3 | 342 | 0.0088 | 7 | c.223 others(24): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70506593 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG02258.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0327a0001c0003t0001g0131a0001c0003t0001g0132others(4): Show | 7 | 354 | 0.0198 | 7 | c.106 others(26): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
COG7_chr16_23383493_23458189 | 23424231 | A | AGGTTGTG | intron_variant | MODIFIER | HG02559.hp1 HG03225.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0145 | 4 | 272 | 0.0147 | 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 | a0001c0002t0003g0065a0001c0002t0003g0066a0001c0002t0003g0067others(25): Show | 28 | 184 | 0.1522 | 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 |
a0001a0003a0010 | a0001c0008a0003c0026a0010c0028 | a0001c0008t0006a0003c0026t0002a0010c0028t0006 | a0001c0008t0006g0002a0001c0008t0006g0003a0001c0008t0006g0004others(4): Show | 7 | 184 | 0.0380 | 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 |
a0001a0007 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0011others(15): Show | 18 | 324 | 0.0556 | 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 | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0043others(68): Show | 71 | 324 | 0.2191 | 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 | a0001c0003t0001g0128a0002c0002t0001g0024a0002c0002t0002g0163others(4): Show | 7 | 218 | 0.0321 | 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 | a0001c0003t0002g0092a0002c0002t0001g0097a0005c0011t0004g0209 | 3 | 218 | 0.0138 | 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 | a0001c0003t0019g0076a0002c0002t0001g0208 | 2 | 218 | 0.0092 | 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 | a0002c0003t0002g0179a0002c0003t0002g0184a0002c0003t0002g0223others(30): Show | 33 | 310 | 0.1065 | 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 | a0002c0010t0001g0008a0002c0010t0001g0145a0002c0010t0001g0161others(4): Show | 7 | 310 | 0.0226 | 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 | a0001c0001t0002g0052a0001c0001t0002g0057a0001c0001t0002g0059others(245): Show | 248 | 310 | 0.8000 | 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 | a0001c0031t0001g0205a0003c0006t0001g0081a0003c0006t0001g0085others(8): Show | 11 | 310 | 0.0355 | 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 |
a0001a0008 | a0001c0069a0008c0018 | a0001c0069t0005a0008c0018t0005 | a0001c0069t0005g0038a0008c0018t0005g0067a0008c0018t0005g0130others(1): Show | 4 | 292 | 0.0137 | 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 |
a0011a0019 | a0011c0040a0011c0104a0019c0096 | a0011c0040t0001a0011c0104t0002a0019c0096t0015 | a0011c0040t0001g0076a0011c0104t0002g0003a0019c0096t0015g0045 | 3 | 292 | 0.0103 | 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(96): Show |
a0001a0002a0003others(15): Show | a0001c0003a0001c0005a0001c0007others(42): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0008others(49): Show | a0001c0003t0001g0043a0001c0003t0001g0048a0001c0003t0001g0081others(96): Show | 99 | 292 | 0.3390 | 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(151): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0003others(66): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(75): Show | a0001c0001t0001g0033a0001c0001t0001g0142a0001c0001t0001g0191others(151): Show | 154 | 292 | 0.5274 | 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(21): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(74): Show | a0001c0001t0001g0033a0001c0001t0001g0052a0001c0001t0001g0093others(164): Show | 167 | 292 | 0.5719 | 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 |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0022a0001c0002t0002a0001c0002t0008others(7): Show | a0001c0001t0022g0069a0001c0002t0002g0059a0001c0002t0008g0160others(7): Show | 10 | 182 | 0.0550 | 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 | a0001c0001t0006g0107a0002c0003t0012g0010a0002c0003t0018g0014others(9): Show | 12 | 182 | 0.0659 | 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 | a0001c0002t0040g0132a0001c0008t0014g0136a0002c0009t0014g0012 | 3 | 182 | 0.0165 | 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 |
a0002a0006 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0006t0007others(2): Show | a0002c0003t0002g0100a0002c0003t0002g0103a0002c0006t0003g0098others(3): Show | 6 | 182 | 0.0330 | 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 |
a0002a0004a0007others(1): Show | a0002c0003a0002c0004a0002c0006others(5): Show | a0002c0003t0002a0002c0003t0011a0002c0003t0012others(12): Show | a0002c0003t0002g0175a0002c0003t0011g0115a0002c0003t0012g0010others(19): Show | 22 | 182 | 0.1209 | 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 | a0003c0010t0013g0172a0003c0010t0027g0119 | 2 | 182 | 0.0110 | 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 | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0022others(220): Show | 374 | 438 | 0.8539 | 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 |
a0001a0006a0008 | a0001c0002a0006c0011a0008c0012 | a0001c0002t0002a0006c0011t0004a0008c0012t0004 | a0001c0002t0002g0197a0006c0011t0004g0091a0008c0012t0004g0030 | 3 | 264 | 0.0114 | 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 | a0001c0001t0001g0102a0001c0001t0001g0107a0001c0001t0001g0131others(29): Show | 32 | 264 | 0.1212 | 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 | a0001c0001t0001g0082a0001c0001t0001g0101a0001c0001t0003g0003others(12): Show | 15 | 158 | 0.0949 | 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 | a0001c0006t0001g0062a0001c0008t0002g0093a0001c0010t0001g0128others(3): Show | 6 | 158 | 0.0380 | 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 | a0001c0001t0001g0083a0001c0002t0002g0043a0001c0002t0003g0009others(7): Show | 10 | 158 | 0.0633 | 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 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(53): Show | 56 | 158 | 0.3544 | 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 | a0001c0001t0002g0017a0002c0003t0003g0001a0002c0003t0003g0011 | 3 | 158 | 0.0190 | 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 | a0001c0027t0001g0024a0001c0027t0002g0022a0002c0004t0008g0023others(1): Show | 4 | 158 | 0.0253 | 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 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0003a0001c0004t0002a0002c0003t0001others(2): Show | a0001c0001t0003g0123a0001c0001t0003g0170a0001c0004t0002g0120others(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 | a0014c0020t0002g0172a0014c0020t0002g0173 | 2 | 238 | 0.0084 | 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 | a0002c0003a0003c0007a0004c0002others(5): Show | a0002c0003t0002a0003c0007t0001a0003c0007t0003others(6): Show | a0002c0003t0002g0145a0002c0003t0002g0156a0003c0007t0001g0075others(8): Show | 11 | 238 | 0.0462 | 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(40): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0066a0003c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(16): Show | a0001c0001t0001g0038a0001c0001t0001g0099a0001c0001t0001g0100others(40): Show | 43 | 238 | 0.1807 | 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 |
a0003a0020a0021others(1): Show | a0003c0007a0003c0027a0003c0056others(3): Show | a0003c0007t0002a0003c0027t0002a0003c0056t0001others(3): Show | a0003c0007t0002g0076a0003c0007t0002g0084a0003c0007t0002g0085others(8): Show | 11 | 238 | 0.0462 | 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 |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(11): Show | a0001c0001t0002g0054a0001c0001t0002g0056a0001c0001t0002g0063others(42): Show | 45 | 130 | 0.3462 | 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 | a0001c0001t0002g0094a0001c0001t0002g0102a0001c0001t0002g0108others(4): Show | 7 | 130 | 0.0539 | 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 |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0002a0001c0003t0004a0002c0011t0007 | a0001c0001t0002g0091a0001c0001t0002g0126a0001c0003t0004g0001others(1): Show | 4 | 130 | 0.0308 | 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 | a0001c0001t0007g0090a0001c0002t0004g0011 | 2 | 130 | 0.0154 | 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 |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0001g0068others(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 | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0002g0113others(4): Show | 7 | 130 | 0.0539 | 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(45): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(11): Show | a0001c0001t0002g0061a0001c0001t0002g0062a0001c0001t0002g0064others(45): Show | 48 | 174 | 0.2759 | 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 | a0001c0001t0001g0114a0001c0001t0002g0111a0001c0001t0002g0113others(14): Show | 17 | 174 | 0.0977 | 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(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0114a0001c0001t0002g0136a0001c0001t0002g0163others(25): Show | 28 | 174 | 0.1609 | 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 | a0001c0001t0002g0151a0001c0001t0002g0154a0001c0001t0008g0169others(4): Show | 7 | 174 | 0.0402 | 7 | c.386 others(26): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |