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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG8_chr16_69321428_69344564 | 69327160 | CTTTTTTT others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0145 | 1 | 360 | 0.0028 | -11 | c.*20 others(22): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 6/6 | 3668 | chr16 | TogoVar | |||||
COL11A1_chr1_102871473_103113522 | 103006526 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG01433.hp2 others(7): Show |
a0002a0017 | a0002c0001a0002c0033a0017c0038 | a0002c0001t0001a0002c0001t0002a0002c0033t0013others(1): Show | a0002c0001t0001g0100a0002c0001t0001g0110a0002c0001t0002g0097others(7): Show | 10 | 184 | 0.0544 | -11 | c.168 others(28): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 15/66 | chr1 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75095623 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(97): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0019others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0011others(96): Show | 100 | 206 | 0.4854 | -11 | c.857 others(28): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 59/65 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69804809 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG03942.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271a0001c0002t0001g0272 | 2 | 324 | 0.0062 | -11 | c.294 others(28): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69877702 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0135 | 1 | 324 | 0.0031 | -11 | c.436 others(26): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69933135 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03195.hp1 |
a0002 | a0002c0024a0002c0030 | a0002c0024t0003a0002c0030t0001 | a0002c0024t0003g0264a0002c0030t0001g0309 | 2 | 324 | 0.0062 | -11 | c.172 others(28): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 31/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120248917 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03041.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0019a0006c0020 | a0001c0001t0002a0006c0019t0005a0006c0020t0001 | a0001c0001t0002g0032a0001c0001t0002g0072a0006c0019t0005g0017others(1): Show | 4 | 218 | 0.0184 | -11 | c.260 others(30): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 21/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120277049 | GAAAAACA others(4): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0078 | 1 | 218 | 0.0046 | -11 | c.321 others(30): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98986625 | AAAATGGG others(4): Show |
A | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 310 | 0.0032 | -11 | c.648 others(26): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 3/41 | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99007130 | CGCTTGCA others(4): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp1 HG03486.hp2 others(3): Show |
a0002a0006a0017others(2): Show | a0002c0003a0002c0010a0006c0007others(3): Show | a0002c0003t0003a0002c0010t0009a0006c0007t0001others(3): Show | a0002c0003t0003g0100a0002c0010t0009g0204a0006c0007t0001g0216others(3): Show | 6 | 310 | 0.0194 | -11 | c.135 others(30): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99018250 | CGTCTCTT others(4): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02155.hp2 NA18991.hp1 others(3): Show |
a0001 | a0001c0001a0001c0013a0001c0031 | a0001c0001t0002a0001c0013t0001a0001c0031t0001 | a0001c0001t0002g0052a0001c0001t0002g0057a0001c0001t0002g0061others(3): Show | 6 | 310 | 0.0194 | -11 | c.164 others(30): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 11/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31654971 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0017a0001c0020 | a0001c0001t0002a0001c0017t0004a0001c0020t0004 | a0001c0001t0002g0272a0001c0017t0004g0035a0001c0020t0004g0029others(1): Show | 4 | 342 | 0.0117 | -11 | c.429 others(28): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 67/70 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707374 | CTTTTCTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(11): Show |
a0001a0023a0027 | a0001c0005a0001c0006a0001c0051others(2): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0002others(3): Show | a0001c0005t0001g0008a0001c0005t0001g0100a0001c0005t0001g0128others(11): Show | 14 | 342 | 0.0409 | -11 | c.-35 others(22): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3358 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405030 | CCCCCTGC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0191a0001c0003t0001g0287a0001c0004t0001g0213others(9): Show | 12 | 292 | 0.0411 | -11 | c.-20 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 134 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405091 | CCCCCTGC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0191a0001c0003t0001g0287a0001c0004t0001g0018others(12): Show | 15 | 292 | 0.0514 | -11 | c.-13 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 73 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45410430 | TGACCCTG others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00642.hp1 others(27): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(12): Show | a0001c0001t0001g0093a0001c0001t0001g0187a0001c0001t0013g0276others(27): Show | 30 | 292 | 0.1027 | -11 | c.106 others(28): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490034 | CCGTCCCC others(4): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02723.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0027a0001c0037others(2): Show | a0001c0001t0001a0001c0027t0001a0001c0037t0001others(2): Show | a0001c0001t0001g0191a0001c0027t0001g0019a0001c0027t0001g0020others(3): Show | 6 | 292 | 0.0206 | -11 | c.196 others(28): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70160817 | GAAGTACA others(4): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0101 | 1 | 182 | 0.0055 | -11 | c.229 others(30): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 34/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098536 | TATAAATA others(4): Show |
T | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0262 | 1 | 264 | 0.0038 | -11 | c.181 others(30): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138612935 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02809.hp2 HG02965.hp2 others(1): Show |
a0001a0002a0014 | a0001c0010a0001c0057a0002c0005others(1): Show | a0001c0010t0001a0001c0057t0009a0002c0005t0009others(1): Show | a0001c0010t0001g0128a0001c0057t0009g0048a0002c0005t0009g0135others(1): Show | 4 | 158 | 0.0253 | -11 | c.397 others(28): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 56/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138652029 | ACTGACCC others(4): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0009 | a0009c0047 | a0009c0047t0001 | a0009c0047t0001g0098 | 1 | 158 | 0.0063 | -11 | c.333 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138670960 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0117 | 1 | 158 | 0.0063 | -11 | c.315 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138692499 | GTGTGTGT others(4): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 158 | 0.0063 | -11 | c.275 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138782815 | CGATGACA others(4): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02055.hp1 others(11): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0012a0001c0017others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(10): Show | a0001c0001t0001g0101a0001c0001t0002g0017a0001c0012t0001g0037others(11): Show | 14 | 158 | 0.0886 | -11 | c.159 others(30): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178302064 | CTGTGTGT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0005others(7): Show | a0001c0001t0003g0006a0001c0001t0003g0122a0001c0001t0003g0142others(17): Show | 20 | 236 | 0.0848 | -11 | c.406 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178311722 | TGTTTTGT others(4): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG01978.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(7): Show | a0001c0001t0002g0189a0001c0001t0004g0041a0001c0001t0004g0174others(9): Show | 12 | 236 | 0.0509 | -11 | c.362 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178403120 | AAATAAAT others(4): Show |
A | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 236 | 0.0042 | -11 | c.362 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178468189 | ACCCACCC others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(179): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0076a0001c0001t0001g0199others(179): Show | 182 | 236 | 0.7712 | -11 | c.361 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178517873 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00738.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0002g0048a0001c0001t0002g0056others(33): Show | 36 | 236 | 0.1525 | -11 | c.361 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178547771 | CCACCCCC others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0194a0001c0001t0004g0037 | 2 | 236 | 0.0085 | -11 | c.361 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85801949 | CTCTCTCC others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02615.hp1 others(4): Show |
a0002a0004a0006others(2): Show | a0002c0003a0004c0002a0006c0062others(2): Show | a0002c0003t0003a0004c0002t0004a0006c0062t0001others(2): Show | a0002c0003t0003g0147a0002c0003t0003g0210a0002c0003t0003g0225others(4): Show | 7 | 238 | 0.0294 | -11 | c.395 others(32): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85945000 | GTGTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0042 | a0042c0065 | a0042c0065t0004 | a0042c0065t0004g0188 | 1 | 238 | 0.0042 | -11 | c.256 others(32): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86097528 | TCCCTCCT others(4): Show |
T | intron_variant | MODIFIER | HG03239.hp2 NA18960.hp2 NA18984.hp1 others(2): Show |
a0006a0037 | a0006c0017a0006c0047a0037c0046 | a0006c0017t0005a0006c0017t0006a0006c0047t0005others(1): Show | a0006c0017t0005g0011a0006c0017t0005g0016a0006c0017t0006g0009others(2): Show | 5 | 238 | 0.0210 | -11 | c.160 others(30): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108835861 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0038a0001c0002t0005g0112 | 2 | 130 | 0.0154 | -11 | c.165 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108895938 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0047 | 1 | 130 | 0.0077 | -11 | c.906 others(26): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 16/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108952846 | TTTTTTTT others(4): Show |
T | intron_variant | MODIFIER | HG03710.hp2 NA18952.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0002 | a0001c0001t0001g0114a0001c0001t0002g0091a0001c0001t0002g0116others(1): Show | 4 | 130 | 0.0308 | -11 | c.493 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990234 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0074a0001c0001t0005g0078 | 2 | 130 | 0.0154 | -11 | c.439 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109197330 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 130 | 0.0077 | -11 | c.367 others(32): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101361766 | AAAAAGAA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01074.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0002g0132a0001c0001t0002g0133a0001c0001t0002g0136others(24): Show | 27 | 174 | 0.1552 | -11 | c.-12 others(22): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1108 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387763 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0018 | a0003c0018t0019 | a0003c0018t0019g0005 | 1 | 174 | 0.0058 | -11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387765 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0128 | 1 | 174 | 0.0058 | -11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101390148 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG02965.hp2 NA20129.hp1 |
a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0007a0002c0007t0004g0008 | 2 | 174 | 0.0115 | -11 | c.158 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101471571 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 174 | 0.0058 | -11 | c.385 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101473643 | CACACACA others(4): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 174 | 0.0058 | -11 | c.385 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101517798 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03017.hp1 NA18939.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0002a0001c0014t0009a0002c0003t0001others(1): Show | a0001c0001t0002g0062a0001c0014t0009g0099a0002c0003t0001g0091others(2): Show | 5 | 174 | 0.0287 | -11 | c.386 others(30): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101538734 | GCACCCTG others(4): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00733.hp1 others(6): Show |
a0001a0002a0005 | a0001c0005a0002c0004a0005c0015 | a0001c0005t0002a0001c0005t0012a0001c0005t0023others(2): Show | a0001c0005t0002g0155a0001c0005t0012g0082a0001c0005t0012g0089others(6): Show | 9 | 174 | 0.0517 | -11 | c.448 others(28): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114179832 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0010a0001c0016others(45): Show | a0001c0002t0023a0001c0010t0016a0001c0016t0001others(53): Show | a0001c0002t0023g0043a0001c0010t0016g0245a0001c0010t0016g0246others(67): Show | 70 | 308 | 0.2273 | -11 | c.196 others(30): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 4/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114269614 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01515.hp2 | a0013 | a0013c0162 | a0013c0162t0002 | a0013c0162t0002g0034 | 1 | 308 | 0.0033 | -11 | c.355 others(28): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 35/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7522806 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0008 | 1 | 196 | 0.0051 | -11 | c.703 others(26): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 4/34 | chr7 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188987945 | TAGTTATC others(4): Show |
T | intron_variant | MODIFIER | HG02300.hp2 HG03654.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0133a0001c0004t0001g0134 | 2 | 376 | 0.0053 | -11 | c.529 others(26): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 5/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |