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 | 101473608 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0011a0003c0010t0027 | a0001c0001t0011g0120a0003c0010t0027g0172 | 2 | 174 | 0.0115 | -8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101475801 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00609.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(15): Show | a0001c0001t0001g0114a0001c0001t0002g0062a0001c0001t0002g0111others(33): Show | 36 | 174 | 0.2069 | -8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489601 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG02698.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0006a0002c0003t0001others(2): Show | a0001c0001t0002g0122a0001c0001t0002g0124a0001c0002t0006g0003others(4): Show | 7 | 174 | 0.0402 | -8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489660 | TCTTCCTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp1 others(12): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(9): Show | a0001c0001t0001g0114a0001c0001t0009g0159a0001c0001t0011g0120others(12): Show | 15 | 174 | 0.0862 | -8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489723 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0002t0003others(5): Show | a0001c0001t0002g0096a0001c0001t0002g0173a0001c0001t0015g0127others(7): Show | 10 | 174 | 0.0575 | -8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101489756 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG02004.hp2 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0003a0002c0006t0004 | a0001c0002t0003g0054a0001c0002t0003g0058a0002c0006t0004g0044 | 3 | 174 | 0.0172 | -8 | c.385 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101492699 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0014a0001c0005t0011 | a0001c0001t0002g0096a0001c0001t0014g0109a0001c0005t0011g0147 | 3 | 174 | 0.0172 | -8 | c.386 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101501199 | AAAGAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0114a0001c0001t0002g0062a0001c0001t0002g0111others(21): Show | 24 | 174 | 0.1379 | -8 | c.386 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101556993 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 NA18960.hp2 NA20300.hp1 |
a0001a0002a0003 | a0001c0002a0002c0004a0003c0018 | a0001c0002t0003a0002c0004t0024a0003c0018t0019 | a0001c0002t0003g0057a0002c0004t0024g0095a0003c0018t0019g0005 | 3 | 174 | 0.0172 | -8 | c.116 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL26A1_chr7_101357875_101564024 | 101557038 | TGGATGGA others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03041.hp1 |
a0001 | a0001c0005a0001c0014 | a0001c0005t0023a0001c0014t0009 | a0001c0005t0023g0116a0001c0014t0009g0099a0001c0014t0009g0117 | 3 | 174 | 0.0172 | -8 | c.116 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114166266 | TCCATCCA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00738.hp2 others(49): Show |
a0005a0008a0010others(10): Show | a0005c0026a0005c0028a0005c0030others(31): Show | a0005c0026t0002a0005c0026t0006a0005c0028t0002others(44): Show | a0005c0026t0002g0062a0005c0026t0006g0024a0005c0028t0002g0305others(49): Show | 52 | 308 | 0.1688 | -8 | c.134 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114191895 | CAGGGCTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02647.hp1 others(8): Show |
a0002a0009a0012others(6): Show | a0002c0018a0002c0121a0009c0140others(8): Show | a0002c0018t0040a0002c0121t0015a0009c0140t0019others(8): Show | a0002c0018t0040g0201a0002c0121t0015g0197a0009c0140t0019g0209others(8): Show | 11 | 308 | 0.0357 | -8 | c.201 others(27): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 5/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253295 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG02257.hp2 HG02486.hp2 |
a0001a0009a0012 | a0001c0045a0009c0138a0012c0159 | a0001c0045t0002a0009c0138t0006a0012c0159t0008 | a0001c0045t0002g0122a0009c0138t0006g0152a0012c0159t0008g0007 | 3 | 308 | 0.0097 | -8 | c.314 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL28A1_chr7_7352875_7540873 | 7372398 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03453.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0032a0002c0004t0003g0068a0002c0004t0003g0070 | 3 | 196 | 0.0153 | -8 | c.290 others(25): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 32/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7383282 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02083.hp2 HG02257.hp1 others(21): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0007a0002c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0003others(9): Show | a0001c0001t0001g0046a0001c0001t0001g0052a0001c0001t0001g0056others(21): Show | 24 | 196 | 0.1225 | -8 | c.213 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7400975 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02717.hp1 others(1): Show |
a0001a0007a0010 | a0001c0001a0001c0007a0007c0032others(1): Show | a0001c0001t0001a0001c0007t0003a0007c0032t0003others(1): Show | a0001c0001t0001g0034a0001c0007t0003g0176a0007c0032t0003g0014others(1): Show | 4 | 196 | 0.0204 | -8 | c.213 others(29): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7497086 | GAAGGAAG others(1): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02572.hp1 HG02630.hp2 others(5): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0004a0003c0003others(3): Show | a0002c0002t0002a0002c0004t0003a0003c0003t0001others(3): Show | a0002c0002t0002g0170a0002c0004t0003g0088a0003c0003t0001g0083others(5): Show | 8 | 196 | 0.0408 | -8 | c.102 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 11/34 | chr7 | TogoVar | ||||||
COL2A1_chr12_47967967_48009476 | 48008103 | AAGAGAGA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02083.hp1 HG02165.hp2 others(10): Show |
a0001 | a0001c0002a0001c0018a0001c0038 | a0001c0002t0001a0001c0018t0003a0001c0038t0001 | a0001c0002t0001g0002a0001c0002t0001g0018a0001c0002t0001g0040others(8): Show | 13 | 414 | 0.0314 | -8 | c.-37 others(19): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3628 | chr12 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188996266 | GTGTGTAT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(25): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0040others(25): Show | 28 | 376 | 0.0745 | -8 | c.166 others(23): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 23/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL3A1_chr2_188969373_189017746 | 189007096 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03831.hp2 HG04204.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0021a0001c0001t0001g0177a0001c0001t0001g0317others(1): Show | 5 | 376 | 0.0133 | -8 | c.325 others(25): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL3A1_chr2_188969373_189017746 | 189007161 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(136): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(112): Show | 139 | 376 | 0.3697 | -8 | c.325 others(25): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL3A1_chr2_188969373_189017746 | 189013488 | AATATATA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02132.hp2 HG02135.hp2 HG02257.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0163a0001c0003t0002g0234others(7): Show | 10 | 376 | 0.0266 | -8 | c.*17 others(19): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110145379 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01123.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(13): Show | a0001c0001t0005a0001c0003t0001a0001c0006t0001others(15): Show | a0001c0001t0005g0020a0001c0001t0005g0041a0001c0003t0001g0095others(18): Show | 21 | 344 | 0.0611 | -8 | c.*49 others(19): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 3583 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110215569 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00642.hp2 others(23): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0007a0001c0020others(17): Show | a0001c0003t0001a0001c0007t0001a0001c0020t0001others(19): Show | a0001c0003t0001g0118a0001c0007t0001g0034a0001c0007t0001g0046others(23): Show | 26 | 344 | 0.0756 | -8 | c.145 others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110247790 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18945.hp2 NA18950.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0019others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0019t0001others(5): Show | a0001c0001t0001g0156a0001c0003t0001g0105a0001c0003t0001g0161others(6): Show | 9 | 344 | 0.0262 | -8 | c.85- others(23): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110321178 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG03209.hp2 HG03471.hp1 others(3): Show |
a0002a0003a0007 | a0002c0041a0002c0091a0002c0121others(3): Show | a0002c0041t0018a0002c0091t0001a0002c0121t0016others(3): Show | a0002c0041t0018g0003a0002c0091t0001g0210a0002c0121t0016g0238others(3): Show | 6 | 372 | 0.0161 | -8 | c.99+ others(25): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110452120 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp2 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(28): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(46): Show | a0001c0002t0002g0308a0001c0002t0002g0318a0001c0002t0002g0349others(67): Show | 70 | 372 | 0.1882 | -8 | c.133 others(27): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227184891 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(42): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0047a0002c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(22): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0020others(42): Show | 45 | 344 | 0.1308 | -8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193747 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG03195.hp1 HG06807.hp1 NA20905.hp2 |
a0001a0004a0012 | a0001c0001a0004c0003a0012c0017 | a0001c0001t0002a0004c0003t0004a0012c0017t0008 | a0001c0001t0002g0033a0004c0003t0004g0317a0012c0017t0008g0055 | 3 | 344 | 0.0087 | -8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227193868 | TAAGGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(143): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0042a0002c0004others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0034others(143): Show | 146 | 344 | 0.4244 | -8 | c.87+ others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202744 | AAAATATA others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01358.hp1 others(3): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0002a0008c0009others(1): Show | a0001c0001t0001a0003c0002t0003a0008c0009t0001others(1): Show | a0001c0001t0001g0242a0003c0002t0003g0220a0008c0009t0001g0029others(3): Show | 6 | 344 | 0.0174 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202854 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0004a0003c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0120others(24): Show | 27 | 344 | 0.0785 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202880 | CATATGTG others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01516.hp2 others(15): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0004a0003c0002others(10): Show | a0001c0001t0001a0002c0004t0006a0002c0004t0008others(12): Show | a0001c0001t0001g0319a0002c0004t0006g0053a0002c0004t0008g0240others(15): Show | 18 | 344 | 0.0523 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202937 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02976.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0011others(1): Show | a0001c0001t0016a0002c0004t0008a0002c0004t0013others(2): Show | a0001c0001t0016g0048a0001c0001t0016g0093a0002c0004t0008g0330others(3): Show | 6 | 344 | 0.0174 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227202982 | CATATGTG others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(39): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0042a0002c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0101others(39): Show | 42 | 344 | 0.1221 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203141 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18945.hp2 NA19070.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0002a0002c0004t0025a0003c0002t0001others(1): Show | a0001c0001t0002g0300a0002c0004t0025g0059a0003c0002t0001g0299others(1): Show | 4 | 344 | 0.0116 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203259 | ACATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG02965.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0042a0002c0004a0002c0007others(4): Show | a0001c0042t0015a0002c0004t0003a0002c0007t0003others(4): Show | a0001c0042t0015g0331a0002c0004t0003g0091a0002c0004t0003g0334others(5): Show | 8 | 344 | 0.0233 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203354 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG04204.hp2 NA20805.hp2 others(1): Show |
a0001a0004a0010 | a0001c0001a0004c0003a0010c0014 | a0001c0001t0002a0001c0001t0007a0004c0003t0004others(1): Show | a0001c0001t0002g0191a0001c0001t0007g0278a0004c0003t0004g0192others(1): Show | 4 | 344 | 0.0116 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203372 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG04115.hp1 NA18747.hp2 NA18953.hp2 others(1): Show |
a0002a0009a0010others(1): Show | a0002c0004a0009c0008a0010c0018others(1): Show | a0002c0004t0003a0009c0008t0001a0010c0018t0002others(1): Show | a0002c0004t0003g0259a0009c0008t0001g0110a0010c0018t0002g0202others(1): Show | 4 | 344 | 0.0116 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227203755 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG02056.hp1 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0042a0002c0004others(4): Show | a0001c0001t0002a0001c0042t0015a0002c0004t0018others(4): Show | a0001c0001t0002g0084a0001c0001t0002g0135a0001c0042t0015g0331others(7): Show | 10 | 344 | 0.0291 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227208765 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0047a0002c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0120others(27): Show | 30 | 344 | 0.0872 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227211649 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01934.hp1 HG01978.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0098a0001c0001t0001g0138a0003c0002t0003g0159others(2): Show | 5 | 344 | 0.0145 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227218072 | ATATATAG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01081.hp1 others(35): Show |
a0001a0003a0004others(8): Show | a0001c0001a0003c0002a0003c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(13): Show | a0001c0001t0001g0100a0001c0001t0001g0205a0001c0001t0002g0033others(35): Show | 38 | 344 | 0.1105 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227222171 | TGATAATA others(1): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp2 HG02698.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0003 | a0001c0001t0001a0003c0002t0003a0004c0003t0019 | a0001c0001t0001g0098a0001c0001t0001g0138a0003c0002t0003g0159others(1): Show | 4 | 344 | 0.0116 | -8 | c.88- others(25): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227250338 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(71): Show |
a0001a0002a0003others(14): Show | a0001c0001a0002c0004a0002c0007others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0120a0001c0001t0001g0142a0001c0001t0001g0143others(71): Show | 74 | 344 | 0.2151 | -8 | c.547 others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A3_chr2_227159624_227319792 | 227252586 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02486.hp1 others(4): Show |
a0003a0005a0006others(1): Show | a0003c0039a0003c0040a0005c0029others(2): Show | a0003c0039t0010a0003c0040t0014a0005c0029t0015others(4): Show | a0003c0039t0010g0005a0003c0040t0014g0038a0005c0029t0015g0295others(4): Show | 7 | 344 | 0.0204 | -8 | c.646 others(23): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 11/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COL4A4_chr2_226997714_227169205 | 227041720 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02809.hp2 HG03834.hp1 others(5): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0002a0012c0011others(1): Show | a0001c0001t0001a0002c0002t0002a0012c0011t0003others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0136a0001c0001t0001g0209others(5): Show | 8 | 284 | 0.0282 | -8 | c.350 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227041848 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0026 | a0001c0001t0001a0003c0026t0001 | a0001c0001t0001g0058a0001c0001t0001g0216a0003c0026t0001g0230 | 3 | 284 | 0.0106 | -8 | c.350 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227042560 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG02896.hp2 others(2): Show |
a0011a0041 | a0011c0012a0011c0053a0041c0029 | a0011c0012t0006a0011c0053t0015a0041c0029t0004 | a0011c0012t0006g0032a0011c0012t0006g0256a0011c0012t0006g0257others(2): Show | 5 | 284 | 0.0176 | -8 | c.339 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 36/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227045921 | GTATATGT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01071.hp1 others(27): Show |
a0001a0010a0015others(4): Show | a0001c0001a0001c0070a0010c0032others(6): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0022others(8): Show | a0001c0001t0001g0034a0001c0001t0001g0040a0001c0001t0001g0050others(27): Show | 30 | 284 | 0.1056 | -8 | c.328 others(27): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar |