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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0014 | a0014c0016 | a0014c0016t0001 | a0014c0016t0001g0309 | 1 | 171 | 0.0058 | 24 | c.100 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99024268 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0302 | 1 | 235 | 0.0043 | 24 | c.185 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 14/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 104 | 0.0096 | 24 | c.365 others(41): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707338 | C | CCTTTCTT others(17): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 229 | 0.0044 | 24 | c.-35 others(35): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3322 | chr1 | TogoVar | |||||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01928.hp1 HG01928.hp2 others(3): Show |
a0001a0002a0014 | a0001c0003a0001c0006a0001c0008others(2): Show | a0001c0003t0002a0001c0006t0001a0001c0008t0002others(2): Show | a0001c0003t0002g0210 a0001c0003t0002g0220 a0001c0006t0001g0279 others(3): Show |
6 | 204 | 0.0294 | 24 | c.-35 others(35): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45409041 | T | TGGCTGAG others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(236): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(86): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(99): Show | a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0038 others(236): Show |
239 | 284 | 0.8415 | 24 | c.106 others(41): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45443117 | C | CGGTGGTG others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0019 | a0019c0067 | a0019c0067t0001 | a0019c0067t0001g0012 | 1 | 290 | 0.0034 | 24 | c.107 others(43): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL1A1_chr17_50179101_50206631 | 50202468 | G | GGGTGGGG others(17): Show |
upstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0039 | 1 | 446 | 0.0022 | 24 | c.-95 others(33): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 838 | chr17 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098598 | T | TATATAAA others(17): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01074.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0018 | a0001c0001t0005g0096 a0001c0001t0005g0134 a0001c0001t0005g0153 others(17): Show |
20 | 233 | 0.0858 | 24 | c.181 others(43): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(17): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0104 a0001c0001t0001g0159 a0001c0001t0001g0241 others(3): Show |
6 | 37 | 0.1622 | 24 | c.143 others(43): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0088 | 1 | 48 | 0.0208 | 24 | c.350 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 |
a0001a0003 | a0001c0016a0003c0031 | a0001c0016t0001a0003c0031t0004 | a0001c0016t0001g0133 a0003c0031t0004g0032 |
2 | 49 | 0.0408 | 24 | c.350 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(17): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0011 | a0002c0011t0006 | a0002c0011t0006g0121 | 1 | 48 | 0.0208 | 24 | c.350 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG01070.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0117 others(19): Show |
22 | 102 | 0.2157 | 24 | c.318 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0031 | a0003c0031t0004 | a0003c0031t0004g0032 | 1 | 81 | 0.0123 | 24 | c.318 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138663016 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 HG03209.hp2 |
a0001a0002 | a0001c0017a0001c0044a0002c0009 | a0001c0017t0005a0001c0044t0002a0002c0009t0002 | a0001c0017t0005g0148 a0001c0044t0002g0077 a0002c0009t0002g0095 |
3 | 78 | 0.0385 | 24 | c.318 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0022 | a0002c0022t0002 | a0002c0022t0002g0026 | 1 | 73 | 0.0137 | 24 | c.315 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0001 | a0001c0015a0001c0057 | a0001c0015t0002a0001c0057t0009 | a0001c0015t0002g0116 a0001c0057t0009g0049 |
2 | 87 | 0.0230 | 24 | c.315 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 HG03139.hp2 others(2): Show |
a0001a0002a0016 | a0001c0056a0001c0057a0002c0009others(2): Show | a0001c0056t0004a0001c0057t0009a0002c0009t0002others(2): Show | a0001c0056t0004g0040 a0001c0057t0009g0049 a0002c0009t0002g0095 others(2): Show |
5 | 73 | 0.0685 | 24 | c.159 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138805029 | T | TGGTGTAG others(17): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0156 | 1 | 156 | 0.0064 | 24 | c.149 others(43): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0228 | 1 | 97 | 0.0103 | 24 | c.105 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACAC others(17): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0102 | 1 | 97 | 0.0103 | 24 | c.105 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACTC others(17): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18955.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0004 | a0001c0001t0005g0147 a0001c0005t0004g0223 |
2 | 98 | 0.0204 | 24 | c.105 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01358.hp1 HG02109.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 a0002c0002t0001g0040 a0002c0002t0001g0046 |
3 | 140 | 0.0214 | 24 | c.730 others(39): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178290423 | G | GCCTGTCC others(17): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0003a0002c0002t0005a0002c0002t0009others(1): Show | a0001c0001t0003g0215 a0002c0002t0005g0160 a0002c0002t0009g0225 others(1): Show |
4 | 236 | 0.0169 | 24 | c.407 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178420422 | T | TCTCCCCT others(17): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0093 a0005c0008t0002g0095 |
2 | 236 | 0.0085 | 24 | c.362 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178498205 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0120 | 1 | 35 | 0.0286 | 24 | c.361 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01071.hp1 HG01106.hp1 others(21): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0002c0007others(13): Show | a0001c0001t0010a0001c0005t0002a0002c0007t0002others(16): Show | a0001c0001t0010g0132 a0001c0001t0010g0142 a0001c0005t0002g0187 others(21): Show |
24 | 60 | 0.4000 | 24 | c.395 others(45): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799211 | A | AAAAGAAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0017 | a0017c0023 | a0017c0023t0004 | a0017c0023t0004g0108 | 1 | 37 | 0.0270 | 24 | c.395 others(45): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCCTCC others(17): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0023 | a0023c0026 | a0023c0026t0001 | a0023c0026t0001g0037 | 1 | 61 | 0.0164 | 24 | c.330 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85858621 | C | CTCCTTCC others(17): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01074.hp1 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0007a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(10): Show | a0001c0001t0001g0159 a0001c0001t0002g0125 a0001c0001t0002g0179 others(16): Show |
19 | 79 | 0.2405 | 24 | c.330 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01884.hp2 HG02976.hp1 others(1): Show |
a0003a0005a0015others(1): Show | a0003c0011a0005c0013a0015c0060others(1): Show | a0003c0011t0003a0005c0013t0003a0015c0060t0002others(1): Show | a0003c0011t0003g0213 a0005c0013t0003g0095 a0015c0060t0002g0071 others(1): Show |
4 | 33 | 0.1212 | 24 | c.277 others(41): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86111532 | G | GATCAGCG others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(25): Show |
a0002a0004a0006others(5): Show | a0002c0007a0002c0027a0002c0056others(11): Show | a0002c0007t0001a0002c0007t0002a0002c0007t0003others(16): Show | a0002c0007t0001g0075 a0002c0007t0002g0076 a0002c0007t0002g0079 others(25): Show |
28 | 231 | 0.1212 | 24 | c.159 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108822043 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0127 | 1 | 38 | 0.0263 | 24 | c.184 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 35/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108832973 | T | TAATAAAT others(17): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0002t0001 | a0001c0001t0002g0129 a0001c0001t0011g0044 a0001c0001t0011g0047 others(1): Show |
4 | 69 | 0.0580 | 24 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108832973 | T | TAATAAAT others(17): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 66 | 0.0152 | 24 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108832974 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0059 others(52): Show |
55 | 124 | 0.4435 | 24 | c.165 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 19 | 0.0526 | 24 | c.165 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109013365 | A | AAAAATGG others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 others(86): Show |
89 | 130 | 0.6846 | 24 | c.421 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019373 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18998.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0003a0001c0009t0002 | a0001c0001t0002g0116 a0001c0001t0003g0025 a0001c0009t0002g0103 |
3 | 107 | 0.0280 | 24 | c.421 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019375 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0085 | 1 | 91 | 0.0110 | 24 | c.421 others(41): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0002g0063 a0001c0001t0002g0110 a0001c0001t0002g0116 others(5): Show |
8 | 34 | 0.2353 | 24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254469 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0062 a0001c0005t0002g0124 |
2 | 38 | 0.0526 | 24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109256085 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0052 a0001c0004t0001g0043 |
2 | 45 | 0.0444 | 24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0127 a0002c0004t0001g0101 |
2 | 129 | 0.0155 | 24 | c.158 others(43): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101450744 | T | TTCTATAT others(17): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(29): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(13): Show | a0001c0001t0001g0115 a0001c0001t0002g0086 a0001c0001t0002g0091 others(29): Show |
32 | 107 | 0.2991 | 24 | c.385 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463868 | C | CCTTTCTT others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0103 | 1 | 167 | 0.0060 | 24 | c.385 others(43): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101489756 | C | CTCTTTCT others(17): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 123 | 0.0081 | 24 | c.385 others(43): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101510027 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02897.hp2 HG02922.hp2 others(6): Show |
a0001a0002a0006 | a0001c0005a0002c0003a0002c0004others(1): Show | a0001c0005t0002a0001c0005t0008a0001c0005t0023others(3): Show | a0001c0005t0002g0119 a0001c0005t0008g0088 a0001c0005t0023g0111 others(6): Show |
9 | 110 | 0.0818 | 24 | c.386 others(43): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101520633 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0160 | 1 | 84 | 0.0119 | 24 | c.386 others(43): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |