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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A4_chr2_226997714_227169205 | 227045984 | TATATTTA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(136): Show |
a0002a0003a0004others(17): Show | a0002c0002a0002c0021a0002c0058others(28): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(41): Show | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0013others(136): Show | 139 | 284 | 0.4894 | -8 | c.328 others(27): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 35/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227053221 | CTCTTTGA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(81): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0021a0002c0058others(11): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(18): Show | a0002c0002t0002g0008a0002c0002t0002g0009a0002c0002t0002g0013others(81): Show | 84 | 284 | 0.2958 | -8 | c.286 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 31/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227104581 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(165): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0070a0001c0072others(47): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0019others(64): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0031others(164): Show | 168 | 284 | 0.5916 | -8 | c.736 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 12/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227140875 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01358.hp2 HG01496.hp1 others(14): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0027others(8): Show | a0001c0001t0001g0100a0001c0001t0001g0194a0002c0002t0002g0043others(14): Show | 17 | 284 | 0.0599 | -8 | c.115 others(23): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 3/47 | chr2 | TogoVar | ||||||
COL4A4_chr2_226997714_227169205 | 227142097 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02572.hp2 others(5): Show |
a0006a0007a0008others(3): Show | a0006c0005a0007c0006a0008c0008others(3): Show | a0006c0005t0004a0007c0006t0004a0008c0008t0009others(3): Show | a0006c0005t0004g0191a0006c0005t0004g0193a0007c0006t0004g0181others(5): Show | 8 | 284 | 0.0282 | -8 | c.115 others(25): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 3/47 | chr2 | TogoVar | ||||||
COL4A5_chrX_108434838_108702545 | 108506341 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(65): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0057a0001c0001t0001g0060a0001c0001t0001g0076others(65): Show | 68 | 269 | 0.2528 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108508557 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | NA19004.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0260 | 1 | 269 | 0.0037 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526589 | CTCCCTCC others(1): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp2 HG02109.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0020others(9): Show | 12 | 269 | 0.0446 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526591 | CCCTCCTT others(1): Show |
C | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 269 | 0.0037 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526593 | CTCCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0011 | a0011c0010 | a0011c0010t0001 | a0011c0010t0001g0261 | 1 | 269 | 0.0037 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526595 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01258.hp1 HG01515.hp1 others(18): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0007others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0100others(18): Show | 21 | 269 | 0.0781 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108526671 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01358.hp1 HG01515.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0061a0001c0001t0001g0074others(17): Show | 20 | 269 | 0.0744 | -8 | c.82- others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108600642 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01109.hp1 others(35): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0088others(35): Show | 38 | 269 | 0.1413 | -8 | c.194 others(25): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 25/52 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
COL4A5_chrX_108434838_108702545 | 108699131 | ATGTGTGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02559.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002a0002c0004t0012 | a0001c0001t0001g0051a0001c0001t0001g0074a0001c0001t0001g0122others(17): Show | 20 | 269 | 0.0744 | -8 | c.*27 others(19): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 1587 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108173461 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(26): Show |
a0002a0008a0009others(1): Show | a0002c0002a0008c0025a0009c0013others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(4): Show | a0002c0002t0001g0157a0002c0002t0001g0158a0002c0002t0001g0159others(26): Show | 29 | 234 | 0.1239 | -8 | c.313 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 31/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108197772 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 234 | 0.0043 | -8 | c.835 others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 13/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108237859 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0006a0001c0001t0001g0043a0001c0001t0001g0049others(112): Show | 115 | 234 | 0.4915 | -8 | c.145 others(27): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108238034 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(11): Show | a0001c0001t0001g0043a0001c0001t0001g0049a0001c0001t0001g0050others(90): Show | 93 | 234 | 0.3974 | -8 | c.145 others(27): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108309801 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG02257.hp1 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0067a0001c0001t0001g0100others(8): Show | 11 | 234 | 0.0470 | -8 | c.144 others(23): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 3/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108343159 | ATATATAG others(1): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 234 | 0.0043 | -8 | c.64- others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108343161 | ATATAGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(17): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0230a0002c0002t0001g0200a0002c0002t0001g0222others(17): Show | 20 | 234 | 0.0855 | -8 | c.64- others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108351436 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0031 | 1 | 234 | 0.0043 | -8 | c.64- others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108398362 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0207a0002c0002t0002g0208 | 2 | 234 | 0.0086 | -8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108403233 | GCTCTCTC others(1): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01884.hp1 others(9): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0004 | a0002c0002t0001a0002c0003t0002a0003c0004t0004others(1): Show | a0002c0002t0001g0157a0002c0002t0001g0158a0002c0002t0001g0159others(9): Show | 12 | 234 | 0.0513 | -8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108408335 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02083.hp1 others(29): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0020a0001c0001t0002g0012a0001c0001t0003g0039others(29): Show | 32 | 234 | 0.1368 | -8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108408360 | AGAAAGAA others(1): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03486.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0009a0004c0006t0001g0010 | 2 | 234 | 0.0086 | -8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108409203 | GTATTTGT others(1): Show |
G | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 234 | 0.0043 | -8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL4A6_chrX_108150614_108443422 | 108425167 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02622.hp2 HG03486.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0138a0004c0006t0001g0009a0004c0006t0001g0010others(1): Show | 4 | 234 | 0.0171 | -8 | c.63+ others(25): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 2/44 | chrX | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134687415 | TCATCCAT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(23): Show | a0001c0001t0002g0073a0001c0001t0002g0227a0001c0001t0005g0249others(25): Show | 28 | 272 | 0.1029 | -8 | c.110 others(25): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134759548 | CACACTCA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02109.hp2 others(1): Show |
a0001a0014 | a0001c0001a0001c0060a0001c0065others(1): Show | a0001c0001t0001a0001c0060t0004a0001c0065t0003others(1): Show | a0001c0001t0001g0125a0001c0060t0004g0240a0001c0065t0003g0009others(1): Show | 4 | 272 | 0.0147 | -8 | c.193 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134790473 | CCCACCCA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp1 others(20): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(18): Show | a0001c0001t0003g0133a0001c0001t0003g0146a0001c0001t0009g0233others(20): Show | 23 | 272 | 0.0846 | -8 | c.270 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134790605 | CCCATCCA others(1): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG02602.hp1 NA19085.hp1 |
a0001 | a0001c0002a0001c0004a0001c0057 | a0001c0002t0001a0001c0004t0001a0001c0057t0002 | a0001c0002t0001g0221a0001c0004t0001g0204a0001c0057t0002g0024 | 3 | 272 | 0.0110 | -8 | c.270 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134793662 | GAATGAGT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0016a0001c0025 | a0001c0001t0001a0001c0001t0012a0001c0016t0001others(3): Show | a0001c0001t0001g0033a0001c0001t0012g0242a0001c0016t0001g0022others(3): Show | 6 | 272 | 0.0221 | -8 | c.270 others(27): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134812766 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03098.hp1 |
a0001 | a0001c0003a0001c0007 | a0001c0003t0025a0001c0007t0015 | a0001c0003t0025g0043a0001c0003t0025g0218a0001c0007t0015g0200 | 3 | 272 | 0.0110 | -8 | c.385 others(23): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 48/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134846798 | CCATCCAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00673.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0003a0001c0002t0003a0001c0003t0003others(14): Show | a0001c0001t0003g0133a0001c0001t0003g0146a0001c0002t0003g0083others(21): Show | 24 | 272 | 0.0882 | -8 | c.*44 others(19): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1956 | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134847028 | TATCCATC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(192): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(125): Show | a0001c0001t0001g0012a0001c0001t0001g0033a0001c0001t0001g0041others(192): Show | 195 | 272 | 0.7169 | -8 | c.*47 others(19): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 2186 | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134849636 | GGAAGACG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02965.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0024a0001c0044others(1): Show | a0001c0001t0001a0001c0024t0001a0001c0044t0057others(1): Show | a0001c0001t0001g0033a0001c0024t0001g0207a0001c0044t0057g0042others(1): Show | 4 | 272 | 0.0147 | -8 | c.*73 others(19): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4794 | chr9 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189094588 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01975.hp1 HG03516.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0009 | a0001c0001t0004g0221a0001c0002t0009g0161a0001c0002t0009g0162 | 3 | 248 | 0.0121 | -8 | c.457 others(25): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 6/53 | chr2 | TogoVar | ||||||
COL5A2_chr2_189026898_189184761 | 189159719 | CTAAAACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(121): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(117): Show | 124 | 248 | 0.5000 | -8 | c.97+ others(25): Show |
COL5A2 | ENSG00000204262.14 | transcript | ENST00000374866.9 | protein_coding | 1/53 | chr2 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9977947 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01257.hp1 others(2): Show |
a0009a0010a0035 | a0009c0007a0010c0015a0035c0047 | a0009c0007t0001a0010c0015t0001a0035c0047t0001 | a0009c0007t0001g0242a0010c0015t0001g0103a0010c0015t0001g0104others(2): Show | 5 | 412 | 0.0121 | -8 | c.301 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 41/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9983529 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0004a0005others(18): Show | a0001c0001a0001c0003a0001c0016others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0090a0001c0001t0001g0101a0001c0001t0001g0106others(60): Show | 64 | 412 | 0.1553 | -8 | c.240 others(27): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9983598 | AAGAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG03195.hp1 NA18957.hp1 |
a0003a0004a0034 | a0003c0009a0004c0108a0034c0078 | a0003c0009t0003a0004c0108t0004a0034c0078t0001 | a0003c0009t0003g0077a0004c0108t0004g0362a0034c0078t0001g0389 | 3 | 412 | 0.0073 | -8 | c.240 others(27): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9984942 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01346.hp2 HG02486.hp1 others(8): Show |
a0001a0005a0008 | a0001c0001a0001c0024a0005c0005others(1): Show | a0001c0001t0001a0001c0024t0002a0005c0005t0001others(1): Show | a0001c0001t0001g0266a0001c0001t0001g0311a0001c0001t0001g0350others(8): Show | 11 | 412 | 0.0267 | -8 | c.240 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 31/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9994559 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG00741.hp2 others(8): Show |
a0002a0003a0004others(4): Show | a0002c0020a0003c0009a0003c0011others(5): Show | a0002c0020t0001a0003c0009t0003a0003c0011t0003others(5): Show | a0002c0020t0001g0232a0003c0009t0003g0323a0003c0009t0003g0348others(8): Show | 11 | 412 | 0.0267 | -8 | c.158 others(25): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 16/66 | chr19 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 10009161 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01168.hp1 others(19): Show |
a0002a0003a0006others(9): Show | a0002c0020a0003c0009a0006c0055others(10): Show | a0002c0020t0002a0003c0009t0003a0006c0055t0001others(10): Show | a0002c0020t0002g0404a0003c0009t0003g0395a0006c0055t0001g0399others(17): Show | 22 | 412 | 0.0534 | -8 | c.88+ others(23): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 1/66 | chr19 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45980875 | GTCTCTGT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp2 |
a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0048a0001c0009t0002g0086 | 2 | 128 | 0.0156 | -8 | c.-97 others(17): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 894 | chr21 | TogoVar | ||||||
COL6A1_chr21_45976770_46010048 | 45985171 | CAGAGACA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(61): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0017others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(23): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0007others(61): Show | 64 | 128 | 0.5000 | -8 | c.428 others(23): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A1_chr21_45976770_46010048 | 46000598 | CCGGGGAG others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02145.hp2 HG03195.hp2 others(6): Show |
a0002a0004a0014 | a0002c0002a0004c0005a0004c0030others(1): Show | a0002c0002t0001a0004c0005t0001a0004c0030t0001others(1): Show | a0002c0002t0001g0037a0002c0002t0001g0119a0004c0005t0001g0041others(6): Show | 9 | 128 | 0.0703 | -8 | c.181 others(25): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46101847 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(72): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(18): Show | a0001c0001t0001g0047a0001c0001t0001g0304a0001c0001t0001g0305others(58): Show | 75 | 372 | 0.2016 | -8 | c.-28 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46134801 | 46123544 | TGGATGGG others(1): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG03239.hp2 |
a0003 | a0003c0007 | a0003c0007t0007 | a0003c0007t0007g0013a0003c0007t0007g0043 | 3 | 372 | 0.0081 | -8 | c.167 others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |