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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL14A1_chr8_120120102_120378573 | 120200711 | CTATTTAT others(9): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0009 | a0004c0009t0007 | a0004c0009t0007g0161 | 1 | 218 | 0.0046 | -16 | c.877 others(33): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01169.hp1 HG01243.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0034a0001c0001t0001g0036a0001c0001t0001g0037others(24): Show | 27 | 218 | 0.1239 | -16 | c.877 others(33): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120298597 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01109.hp1 HG01261.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0002c0006others(5): Show | a0001c0003t0002a0002c0002t0002a0002c0006t0001others(8): Show | a0001c0003t0002g0003a0002c0002t0002g0051a0002c0006t0001g0028others(15): Show | 18 | 218 | 0.0826 | -16 | c.431 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99012703 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03225.hp1 NA18906.hp1 |
a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0220a0010c0012t0002g0221 | 2 | 310 | 0.0065 | -16 | c.135 others(35): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 9/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31648858 | TTGACCCA others(9): Show |
T | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0029 | a0029c0042 | a0029c0042t0009 | a0029c0042t0009g0204 | 1 | 342 | 0.0029 | -16 | c.*37 others(27): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3404 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31664149 | GAGGGGAA others(9): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02717.hp2 |
a0001a0002a0024 | a0001c0059a0002c0009a0024c0057 | a0001c0059t0004a0002c0009t0002a0024c0057t0002 | a0001c0059t0004g0033a0002c0009t0002g0042a0024c0057t0002g0110 | 3 | 342 | 0.0088 | -16 | c.355 others(35): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 56/70 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707369 | CTTTTCTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp2 NA18906.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008a0001c0005t0001g0131 | 2 | 342 | 0.0059 | -16 | c.-35 others(27): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3353 | chr1 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02004.hp1 NA18747.hp2 others(4): Show |
a0001a0002a0026 | a0001c0001a0002c0002a0026c0041 | a0001c0001t0001a0002c0002t0005a0026c0041t0001 | a0001c0001t0001g0091a0001c0001t0001g0119a0001c0001t0001g0153others(4): Show | 7 | 336 | 0.0208 | -16 | c.307 others(33): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104040586 | ATGGATGG others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG01358.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0007a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0007t0001others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0077a0001c0001t0001g0085others(11): Show | 14 | 336 | 0.0417 | -16 | c.270 others(33): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 39/55 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437443 | CACTCACT others(9): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0020 | a0002c0020t0003 | a0002c0020t0003g0156 | 1 | 292 | 0.0034 | -16 | c.107 others(35): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490053 | CCCCACTC others(9): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0012 | a0002c0012t0004 | a0002c0012t0004g0058 | 1 | 292 | 0.0034 | -16 | c.196 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45507995 | AGGTGGAT others(9): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0186 | 1 | 292 | 0.0034 | -16 | c.324 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69982973 | AAAATAAA others(9): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03453.hp2 HG03471.hp1 |
a0002a0007 | a0002c0004a0007c0022 | a0002c0004t0011a0002c0004t0016a0007c0022t0003 | a0002c0004t0011g0111a0002c0004t0016g0112a0007c0022t0003g0113 | 3 | 182 | 0.0165 | -16 | c.102 others(37): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70205441 | CAGCACAC others(9): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0045 | 1 | 182 | 0.0055 | -16 | c.322 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 49/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A1_chr17_50179101_50206631 | 50181773 | CACACTCG others(9): Show |
C | downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0256 | 1 | 448 | 0.0022 | -16 | c.*37 others(27): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 2327 | chr17 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63294184 | CGTGCAGG others(9): Show |
C | intron_variant | MODIFIER | NA19009.hp2 | a0022 | a0022c0034 | a0022c0034t0001 | a0022c0034t0001g0248 | 1 | 290 | 0.0035 | -16 | c.-10 others(31): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63331349 | AGGAGTTC others(9): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0055 | 1 | 290 | 0.0035 | -16 | c.*63 others(25): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 36/36 | 1693 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||
COL21A1_chr6_56051590_56252580 | 56087075 | TGTTTTGT others(9): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03225.hp2 |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0004 | a0004c0004t0002g0103a0004c0004t0002g0106a0004c0004t0004g0026 | 3 | 264 | 0.0114 | -16 | c.181 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098194 | TATATAAA others(9): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0067 | 1 | 264 | 0.0038 | -16 | c.181 others(35): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138650703 | TAGATAGA others(9): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 158 | 0.0063 | -16 | c.333 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138660939 | CACACATA others(9): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02647.hp1 |
a0001a0016 | a0001c0001a0001c0002a0016c0036 | a0001c0001t0002a0001c0002t0005a0016c0036t0002 | a0001c0001t0002g0017a0001c0002t0005g0151a0016c0036t0002g0085 | 3 | 158 | 0.0190 | -16 | c.324 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138661023 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG03486.hp1 HG04228.hp1 |
a0001a0002 | a0001c0008a0002c0009 | a0001c0008t0002a0002c0009t0001 | a0001c0008t0002g0093a0002c0009t0001g0119 | 2 | 158 | 0.0127 | -16 | c.324 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138725752 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp1 HG01884.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0005a0001c0006t0001others(12): Show | a0001c0001t0001g0083a0001c0001t0005g0142a0001c0006t0001g0113others(12): Show | 15 | 158 | 0.0949 | -16 | c.214 others(33): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178245300 | TCATCCAT others(9): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01928.hp2 HG01952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056a0001c0001t0002g0148a0001c0001t0002g0153others(1): Show | 4 | 236 | 0.0170 | -16 | c.144 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 25/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178245533 | ATCACCCA others(9): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0021a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0076a0001c0001t0001g0199a0001c0001t0002g0048others(61): Show | 64 | 236 | 0.2712 | -16 | c.144 others(33): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 25/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358725 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02630.hp1 |
a0003a0004 | a0003c0005a0004c0006 | a0003c0005t0002a0004c0006t0003 | a0003c0005t0002g0005a0004c0006t0003g0130 | 2 | 236 | 0.0085 | -16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178362884 | TCCACCCC others(9): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0157 | 1 | 236 | 0.0042 | -16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178362953 | TCCCACAG others(9): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(31): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0028a0001c0001t0002g0058a0001c0001t0002g0153others(31): Show | 34 | 236 | 0.1441 | -16 | c.362 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178487288 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 | 1 | 236 | 0.0042 | -16 | c.361 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG03471.hp1 NA18971.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0003g0182a0001c0001t0004g0011a0001c0001t0004g0043others(2): Show | 5 | 236 | 0.0212 | -16 | c.361 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178523193 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 236 | 0.0042 | -16 | c.361 others(35): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85764455 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02080.hp2 others(8): Show |
a0004a0005a0009others(3): Show | a0004c0002a0005c0004a0009c0008others(4): Show | a0004c0002t0007a0005c0004t0001a0005c0004t0002others(5): Show | a0004c0002t0007g0001a0004c0002t0007g0002a0004c0002t0007g0004others(8): Show | 11 | 238 | 0.0462 | -16 | c.437 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 53/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85778023 | CTCTATCT others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG02055.hp1 others(10): Show |
a0002a0003a0009others(5): Show | a0002c0003a0002c0011a0003c0019others(7): Show | a0002c0003t0008a0002c0011t0003a0003c0019t0003others(7): Show | a0002c0003t0008g0150a0002c0011t0003g0213a0003c0019t0003g0067others(10): Show | 13 | 238 | 0.0546 | -16 | c.433 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 52/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85858621 | CTCCTTCC others(9): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02559.hp1 others(4): Show |
a0002a0003a0013others(2): Show | a0002c0011a0003c0019a0013c0018others(2): Show | a0002c0011t0003a0003c0019t0003a0013c0018t0004others(2): Show | a0002c0011t0003g0213a0003c0019t0003g0067a0003c0019t0003g0070others(4): Show | 7 | 238 | 0.0294 | -16 | c.330 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85875716 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0009 | a0009c0042 | a0009c0042t0003 | a0009c0042t0003g0111 | 1 | 238 | 0.0042 | -16 | c.303 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85960883 | CAATAAAT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG01255.hp2 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0005a0002c0011a0003c0019others(18): Show | a0001c0005t0001a0001c0005t0002a0002c0011t0001others(22): Show | a0001c0005t0001g0133a0001c0005t0001g0139a0001c0005t0001g0184others(37): Show | 40 | 238 | 0.1681 | -16 | c.256 others(33): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86107508 | AATTTATT others(9): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0006 | a0006c0062 | a0006c0062t0001 | a0006c0062t0001g0094 | 1 | 238 | 0.0042 | -16 | c.159 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108829387 | GTATCTAT others(9): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 130 | 0.0077 | -16 | c.171 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 32/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108886442 | TTGTGTGT others(9): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 130 | 0.0077 | -16 | c.976 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108898977 | CTATATCT others(9): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02895.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0059a0001c0001t0001g0099a0001c0001t0002g0129others(7): Show | 10 | 130 | 0.0769 | -16 | c.861 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 15/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990225 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02165.hp1 HG03492.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0085a0001c0001t0002g0102a0001c0002t0004g0011 | 3 | 130 | 0.0231 | -16 | c.439 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990227 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | NA18941.hp2 NA18998.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0120a0001c0001t0003g0005a0001c0001t0003g0021 | 3 | 130 | 0.0231 | -16 | c.439 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990231 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 130 | 0.0077 | -16 | c.439 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019365 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 130 | 0.0077 | -16 | c.421 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109019367 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0005 | a0001c0001t0001g0080a0001c0001t0002g0126a0001c0005t0005g0122 | 3 | 130 | 0.0231 | -16 | c.421 others(33): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109083448 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02071.hp2 HG02523.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(4): Show | a0001c0001t0002g0105a0001c0001t0003g0025a0001c0001t0017g0003others(5): Show | 8 | 130 | 0.0615 | -16 | c.368 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109239388 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0015 | a0001c0001t0001g0079a0001c0006t0015g0022 | 2 | 130 | 0.0154 | -16 | c.367 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109254469 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 130 | 0.0077 | -16 | c.367 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101363614 | CTGCGGGG others(9): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02257.hp2 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0005a0002c0003a0002c0004 | a0001c0005t0005a0002c0003t0001a0002c0003t0026others(1): Show | a0001c0005t0005g0106a0002c0003t0001g0102a0002c0003t0026g0107others(3): Show | 6 | 174 | 0.0345 | -16 | c.158 others(31): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101387738 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0050 | 1 | 174 | 0.0058 | -16 | c.158 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |