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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL26A1_chr7_101357875_101564024 | 101362880 | C | T | 5_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0004 | a0002c0004t0030 | a0002c0004t0030g0170 | 1 | 174 | 0.0058 | 0 | c.-15 others(4): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/13 | 153 | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101362912 | C | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(113): Show | 116 | 174 | 0.6667 | 0 | c.-12 others(4): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/13 | 121 | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101362949 | T | G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(113): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(113): Show | 116 | 174 | 0.6667 | 0 | c.-84 others(3): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/13 | 84 | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114155768 | C | T | 5_prime_UTR_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0018 | a0002c0018t0040 | a0002c0018t0040g0201 | 1 | 308 | 0.0033 | 0 | c.-18 others(4): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 1/61 | 183 | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114155922 | G | C | 5_prime_UTR_variant | MODIFIER | HG01433.hp1 HG02809.hp2 |
a0012a0013 | a0012c0155a0013c0160 | a0012c0155t0021a0013c0160t0020 | a0012c0155t0021g0167a0013c0160t0020g0169 | 2 | 308 | 0.0065 | 0 | c.-29 others(3): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 1/61 | 29 | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7535762 | G | A | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01167.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0193a0003c0003t0004g0194a0003c0003t0004g0195others(1): Show | 4 | 196 | 0.0204 | 0 | c.-50 others(3): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 1/35 | 2887 | chr7 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7535860 | A | G | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG03195.hp2 HG03209.hp1 |
a0002a0007a0028 | a0002c0002a0007c0008a0028c0036 | a0002c0002t0006a0007c0008t0006a0028c0036t0010 | a0002c0002t0006g0002a0007c0008t0006g0003a0028c0036t0010g0001 | 3 | 196 | 0.0153 | 0 | c.-14 others(4): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 1/35 | 2985 | chr7 | TogoVar | |||||
COL2A1_chr12_47967967_48009476 | 48004440 | G | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0004others(37): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(44): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0018others(196): Show | 293 | 414 | 0.7077 | 0 | c.-11 others(4): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 1/54 | 119 | chr12 | TogoVar | |||||
COL3A1_chr2_188969373_189017746 | 188974410 | G | A | 5_prime_UTR_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0323 | 1 | 376 | 0.0027 | 0 | c.-80 others(3): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1/51 | 80 | chr2 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110307117 | C | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(75): Show |
a0002a0003a0006others(2): Show | a0002c0002a0002c0004a0002c0011others(29): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0015others(36): Show | a0002c0002t0002g0265a0002c0002t0002g0269a0002c0002t0002g0270others(75): Show | 78 | 344 | 0.2267 | 0 | c.-90 others(3): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/52 | 90 | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110307296 | A | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(236): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0002a0001c0003others(85): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(150): Show | a0001c0001t0002g0306a0001c0001t0002g0338a0001c0001t0003g0063others(235): Show | 239 | 372 | 0.6425 | 0 | c.-27 others(4): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 1/48 | 608 | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110307370 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0003others(55): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0023others(68): Show | a0001c0001t0002g0306a0001c0001t0002g0338a0001c0001t0004g0280others(113): Show | 117 | 372 | 0.3145 | 0 | c.-20 others(4): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 1/48 | 534 | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110307440 | A | G | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(87): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(36): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0042others(47): Show | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0091others(87): Show | 90 | 372 | 0.2419 | 0 | c.-13 others(4): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 1/48 | 464 | chr13 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227147485 | G | A | 5_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02257.hp2 others(35): Show |
a0002a0004a0006others(10): Show | a0002c0002a0004c0004a0006c0005others(15): Show | a0002c0002t0004a0004c0004t0037a0006c0005t0004others(18): Show | a0002c0002t0004g0149a0004c0004t0037g0062a0006c0005t0004g0148others(35): Show | 38 | 284 | 0.1338 | 0 | c.-2C others(2): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 2/48 | 2 | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227147562 | G | A | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02965.hp1 HG03098.hp2 |
a0001a0011a0027 | a0001c0070a0011c0053a0027c0047 | a0001c0070t0039a0011c0053t0015a0027c0047t0015 | a0001c0070t0039g0204a0011c0053t0015g0152a0027c0047t0015g0025 | 3 | 284 | 0.0106 | 0 | c.-79 others(3): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 2/48 | 79 | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227164020 | C | G | 5_prime_UTR_variant | MODIFIER | HG02451.hp1 HG02647.hp2 |
a0001a0035 | a0001c0001a0035c0037 | a0001c0001t0017a0035c0037t0016 | a0001c0001t0017g0002a0035c0037t0016g0003 | 2 | 284 | 0.0070 | 0 | c.-11 others(4): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 1/48 | 16537 | chr2 | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108439879 | G | C | 5_prime_UTR_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0042 | 1 | 269 | 0.0037 | 0 | c.-24 others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 247 | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108439945 | CCTT | C | 5_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0075 | 1 | 269 | 0.0037 | -3 | c.-16 others(12): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 166 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
COL4A5_chrX_108434838_108702545 | 108439961 | T | C | 5_prime_UTR_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0059 | 1 | 269 | 0.0037 | 0 | c.-16 others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 165 | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108439971 | T | C | 5_prime_UTR_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0185 | 1 | 269 | 0.0037 | 0 | c.-15 others(4): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/53 | 155 | chrX | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134641939 | G | A | 5_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0010 | a0001c0010t0026 | a0001c0010t0026g0049 | 1 | 272 | 0.0037 | 0 | c.-24 others(4): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 249 | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134641940 | C | A | 5_prime_UTR_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0210 | 1 | 272 | 0.0037 | 0 | c.-24 others(4): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 248 | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134641941 | T | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(162): Show | a0001c0001t0001g0012a0001c0001t0001g0033a0001c0001t0001g0041others(266): Show | 270 | 272 | 0.9927 | 0 | c.-24 others(4): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 247 | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134642008 | C | A | 5_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG02965.hp1 others(2): Show |
a0001a0014 | a0001c0002a0001c0003a0001c0061others(1): Show | a0001c0002t0013a0001c0003t0028a0001c0061t0013others(1): Show | a0001c0002t0013g0140a0001c0002t0013g0168a0001c0003t0028g0135others(2): Show | 5 | 272 | 0.0184 | 0 | c.-18 others(4): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 180 | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134642151 | G | A | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02004.hp1 NA18995.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0031a0001c0002t0016a0001c0003t0016others(1): Show | a0001c0001t0031g0075a0001c0002t0016g0237a0001c0003t0016g0099others(1): Show | 4 | 272 | 0.0147 | 0 | c.-37 others(3): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 37 | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134642168 | C | G | 5_prime_UTR_variant | MODIFIER | NA21309.hp1 | a0014 | a0014c0053 | a0014c0053t0029 | a0014c0053t0029g0134 | 1 | 272 | 0.0037 | 0 | c.-20 others(3): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 20 | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134642184 | C | G | 5_prime_UTR_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0162 | 1 | 272 | 0.0037 | 0 | c.-4C others(2): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/66 | 4 | chr9 | TogoVar | |||||
COL5A2_chr2_189026898_189184761 | 189179638 | G | A | 5_prime_UTR_variant | MODIFIER | HG02486.hp2 HG03139.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0014 | a0001c0001t0025g0243a0001c0002t0014g0242a0001c0002t0014g0244 | 3 | 248 | 0.0121 | 0 | c.-34 others(3): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/54 | 34 | chr2 | TogoVar | |||||
COL5A3_chr19_9954561_10015504 | 10010427 | G | T | 5_prime_UTR_variant | MODIFIER | HG02630.hp1 HG03516.hp1 |
a0027 | a0027c0054 | a0027c0054t0013 | a0027c0054t0013g0004a0027c0054t0013g0005 | 2 | 412 | 0.0049 | 0 | c.-42 others(3): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 1/67 | 42 | chr19 | TogoVar | |||||
COL6A1_chr21_45976770_46010048 | 45981791 | G | C | 5_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 128 | 0.0078 | 0 | c.-60 others(3): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 60 | chr21 | TogoVar | |||||
COL6A1_chr21_45976770_46010048 | 45981793 | C | CGCGGCGG others(7): Show |
5_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 128 | 0.0078 | 14 | c.-57 others(21): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 56 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
COL6A1_chr21_45976770_46010048 | 45981846 | C | G | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(65): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0009others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(25): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(65): Show | 68 | 128 | 0.5313 | 0 | c.-5C others(2): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 1/35 | 5 | chr21 | TogoVar | |||||
COL6A3_chr2_237319018_237419164 | 237396820 | T | G | 5_prime_UTR_variant | MODIFIER | HG03540.hp1 | a0009 | a0009c0042 | a0009c0042t0012 | a0009c0042t0012g0172 | 1 | 322 | 0.0031 | 0 | c.-3A others(2): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 2/44 | 3 | chr2 | TogoVar | |||||
COL6A3_chr2_237319018_237419164 | 237414037 | C | T | 5_prime_UTR_variant | MODIFIER | HG03017.hp1 | a0031 | a0031c0045 | a0031c0045t0010 | a0031c0045t0010g0007 | 1 | 322 | 0.0031 | 0 | c.-11 others(4): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/44 | 17220 | chr2 | TogoVar | |||||
COL6A3_chr2_237319018_237419164 | 237414086 | A | C | 5_prime_UTR_variant | MODIFIER | NA19005.hp2 NA19055.hp1 NA19087.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0009 | a0001c0002t0006g0005a0001c0002t0006g0006a0002c0001t0009g0004 | 3 | 322 | 0.0093 | 0 | c.-16 others(4): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 1/44 | 17269 | chr2 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130345696 | A | C | 5_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG03041.hp2 others(1): Show |
a0003a0040a0081 | a0003c0004a0040c0042a0081c0080 | a0003c0004t0011a0040c0042t0011a0081c0080t0011 | a0003c0004t0011g0073a0040c0042t0011g0074a0040c0042t0011g0090others(1): Show | 4 | 292 | 0.0137 | 0 | c.-31 others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27943 | chr3 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130345786 | A | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01361.hp2 HG02738.hp1 others(2): Show |
a0013 | a0013c0016a0013c0075 | a0013c0016t0010a0013c0075t0016 | a0013c0016t0010g0013a0013c0016t0010g0014a0013c0016t0010g0015others(2): Show | 5 | 292 | 0.0171 | 0 | c.-22 others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27853 | chr3 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130345800 | TGTGCGGC others(12): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(265): Show |
a0001a0002a0003others(84): Show | a0001c0001a0001c0014a0001c0040others(99): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(255): Show | 268 | 292 | 0.9178 | -19 | c.-19 others(28): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27801 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
COL6A5_chr3_130340672_130489846 | 130345900 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(213): Show |
a0001a0002a0003others(64): Show | a0001c0001a0001c0014a0001c0040others(75): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(87): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(205): Show | 216 | 292 | 0.7397 | 0 | c.-11 others(4): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27739 | chr3 | TogoVar | |||||
COL6A5_chr3_130340672_130489846 | 130345964 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(100): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0014a0001c0040others(32): Show | a0001c0001t0002a0001c0014t0002a0001c0040t0002others(32): Show | a0001c0001t0002g0010a0001c0001t0002g0189a0001c0001t0002g0190others(95): Show | 103 | 292 | 0.3527 | 0 | c.-46 others(3): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 1/41 | 27675 | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130517275 | C | G | 5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp1 others(177): Show |
a0001a0002a0003others(34): Show | a0001c0001a0002c0002a0002c0049others(61): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(108): Show | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(175): Show | 180 | 264 | 0.6818 | 0 | c.-15 others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43090 | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130517313 | C | T | 5_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(61): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0002a0002c0051others(31): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(44): Show | a0001c0001t0004g0003a0001c0001t0004g0207a0001c0001t0007g0090others(61): Show | 64 | 264 | 0.2424 | 0 | c.-11 others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43052 | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130517321 | C | G | 5_prime_UTR_variant | MODIFIER | HG01169.hp2 HG01361.hp1 HG02738.hp2 others(11): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0010a0004c0004others(6): Show | a0001c0001t0010a0003c0010t0009a0004c0004t0009others(7): Show | a0001c0001t0010g0255a0003c0010t0009g0251a0003c0010t0009g0252others(11): Show | 14 | 264 | 0.0530 | 0 | c.-10 others(4): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43044 | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130517330 | C | G | 5_prime_UTR_variant | MODIFIER | HG00597.hp2 NA19005.hp1 |
a0022a0048 | a0022c0024a0048c0047 | a0022c0024t0018a0048c0047t0019 | a0022c0024t0018g0097a0048c0047t0019g0099 | 2 | 264 | 0.0076 | 0 | c.-99 others(3): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43035 | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130517338 | G | A | 5_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0019 | 1 | 264 | 0.0038 | 0 | c.-91 others(3): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/37 | 43027 | chr3 | TogoVar | |||||
COL7A1_chr3_48559073_48600329 | 48595309 | C | CT | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0029 | 2 | 236 | 0.0085 | 1 | c.-44 others(8): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | 151 | chr3 | TogoVar | |||||
COL7A1_chr3_48559073_48600329 | 48595310 | G | C | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0029 | 2 | 236 | 0.0085 | 0 | c.-44 others(3): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | 151 | chr3 | TogoVar | |||||
COL7A1_chr3_48559073_48600329 | 48595311 | G | T | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028a0001c0001t0003g0029 | 2 | 236 | 0.0085 | 0 | c.-45 others(3): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 1/119 | 152 | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99744966 | G | T | 5_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(63): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0003g0088a0001c0001t0003g0130a0001c0001t0003g0133others(63): Show | 66 | 262 | 0.2519 | 0 | c.-59 others(3): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/4 | 45717 | chr3 | TogoVar | |||||
COL8A2_chr1_36090239_36130222 | 36125212 | G | T | 5_prime_UTR_variant | MODIFIER | HG02083.hp1 HG02135.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0027a0002c0003t0009g0028 | 2 | 390 | 0.0051 | 0 | c.-21 others(4): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 1/4 | 24970 | chr1 | TogoVar |