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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL15A1_chr9_98938907_99075787 | 99060429 | ATTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(140): Show |
a0001a0002a0003others(33): Show | a0001c0013a0002c0002a0002c0010others(47): Show | a0001c0013t0001a0002c0002t0001a0002c0010t0001others(49): Show | a0001c0013t0001g0015a0001c0013t0001g0046a0001c0013t0001g0064others(140): Show | 143 | 310 | 0.4613 | -3 | c.340 others(20): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 36/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31648130 | GAAA | G | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01099.hp2 others(34): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0006a0001c0010others(15): Show | a0001c0001t0002a0001c0006t0001a0001c0006t0004others(21): Show | a0001c0001t0002g0272a0001c0006t0001g0097a0001c0006t0001g0123others(34): Show | 37 | 342 | 0.1082 | -3 | c.*45 others(14): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 4132 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31659954 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01123.hp2 others(39): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0006a0001c0010others(13): Show | a0001c0001t0002a0001c0006t0001a0001c0006t0002others(20): Show | a0001c0001t0002g0272a0001c0006t0001g0007a0001c0006t0001g0097others(37): Show | 42 | 342 | 0.1228 | -3 | c.387 others(20): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 62/70 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31666125 | GTGA | G | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG01891.hp2 others(31): Show |
a0001a0002a0004others(3): Show | a0001c0006a0001c0010a0001c0017others(8): Show | a0001c0006t0001a0001c0006t0002a0001c0006t0006others(14): Show | a0001c0006t0001g0007a0001c0006t0001g0097a0001c0006t0001g0123others(29): Show | 34 | 342 | 0.0994 | -3 | c.335 others(18): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 52/70 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31677083 | TTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(142): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0005others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(38): Show | a0001c0001t0001g0254a0001c0001t0001g0291a0001c0001t0001g0292others(127): Show | 145 | 342 | 0.4240 | -3 | c.277 others(22): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 42/70 | chr1 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31699131 | AAAC | A | intron_variant | MODIFIER | HG00609.hp1 HG02109.hp1 HG02145.hp1 others(18): Show |
a0001a0004a0007 | a0001c0005a0001c0006a0001c0010others(3): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0002others(5): Show | a0001c0005t0001g0115a0001c0005t0001g0116a0001c0005t0001g0118others(17): Show | 21 | 342 | 0.0614 | -3 | c.267 others(18): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 4/70 | chr1 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104030737 | CTTT | C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00639.hp1 others(79): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0053others(14): Show | a0001c0001t0002a0001c0006t0002a0001c0053t0002others(17): Show | a0001c0001t0002g0031a0001c0001t0002g0057a0001c0001t0002g0072others(70): Show | 82 | 336 | 0.2441 | -3 | c.*14 others(14): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 548 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45434620 | TCTC | T | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02572.hp1 others(8): Show |
a0001a0004a0008others(2): Show | a0001c0022a0001c0038a0001c0098others(4): Show | a0001c0022t0001a0001c0038t0004a0001c0098t0001others(4): Show | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(8): Show | 11 | 292 | 0.0377 | -3 | c.106 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437765 | CCTG | C | intron_variant | MODIFIER | HG01243.hp1 HG02895.hp2 HG02922.hp1 others(1): Show |
a0001a0004a0022others(1): Show | a0001c0054a0004c0099a0022c0068others(1): Show | a0001c0054t0002a0004c0099t0003a0022c0068t0010others(1): Show | a0001c0054t0002g0201a0004c0099t0003g0030a0022c0068t0010g0004others(1): Show | 4 | 292 | 0.0137 | -3 | c.107 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45442790 | GGGC | G | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001a0011a0018others(2): Show | a0001c0037a0011c0040a0011c0104others(3): Show | a0001c0037t0001a0011c0040t0001a0011c0104t0002others(3): Show | a0001c0037t0001g0062a0001c0037t0001g0157a0011c0040t0001g0046others(5): Show | 8 | 292 | 0.0274 | -3 | c.107 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45442925 | CGGT | C | intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG02258.hp2 others(5): Show |
a0001a0011a0018others(2): Show | a0001c0003a0011c0040a0011c0104others(3): Show | a0001c0003t0001a0011c0040t0001a0011c0104t0002others(3): Show | a0001c0003t0001g0110a0001c0003t0001g0287a0011c0040t0001g0046others(5): Show | 8 | 292 | 0.0274 | -3 | c.107 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45443057 | CGGT | C | intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG02280.hp1 others(13): Show |
a0001a0004a0008others(3): Show | a0001c0003a0001c0022a0001c0037others(7): Show | a0001c0003t0001a0001c0022t0001a0001c0037t0001others(7): Show | a0001c0003t0001g0110a0001c0003t0001g0287a0001c0022t0001g0008others(13): Show | 16 | 292 | 0.0548 | -3 | c.107 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45460116 | CAAG | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp1 others(61): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(22): Show | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0052others(61): Show | 64 | 292 | 0.2192 | -3 | c.107 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500825 | TGTG | T | intron_variant | MODIFIER | HG01261.hp2 HG02135.hp1 HG02135.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0150a0001c0002t0001g0024a0001c0003t0001g0289others(1): Show | 4 | 292 | 0.0137 | -3 | c.268 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500899 | TGTG | T | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG01928.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0128a0001c0001t0002g0278a0001c0001t0013g0276others(1): Show | 4 | 292 | 0.0137 | -3 | c.268 others(22): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45510993 | ACAC | A | intron_variant | MODIFIER | HG02717.hp2 HG02965.hp1 HG03041.hp1 |
a0002a0011 | a0002c0021a0011c0104 | a0002c0021t0002a0011c0104t0002 | a0002c0021t0002g0001a0002c0021t0002g0148a0011c0104t0002g0003 | 3 | 292 | 0.0103 | -3 | c.369 others(20): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 40/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45511060 | CCAT | C | intron_variant | MODIFIER | HG02280.hp1 HG02735.hp1 NA18953.hp2 others(1): Show |
a0001a0019 | a0001c0002a0001c0005a0001c0055others(1): Show | a0001c0002t0003a0001c0005t0003a0001c0055t0003others(1): Show | a0001c0002t0003g0143a0001c0005t0003g0211a0001c0055t0003g0152others(1): Show | 4 | 292 | 0.0137 | -3 | c.369 others(18): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 40/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45517341 | CCCA | C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02280.hp2 HG03130.hp2 |
a0001a0002 | a0001c0001a0002c0067 | a0001c0001t0001a0002c0067t0001 | a0001c0001t0001g0149a0001c0001t0001g0150a0002c0067t0001g0041 | 3 | 292 | 0.0103 | -3 | c.*49 others(14): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 3622 | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69871809 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(118): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(18): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0038others(51): Show | a0001c0001t0001g0016a0001c0001t0001g0047a0001c0001t0001g0053others(118): Show | 121 | 182 | 0.6648 | -3 | c.-33 others(20): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 1/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69881410 | TAAC | T | intron_variant | MODIFIER | HG01167.hp1 HG01515.hp2 |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0010a0002c0003t0002 | a0001c0005t0010g0027a0002c0003t0002g0045 | 2 | 182 | 0.0110 | -3 | c.91+ others(18): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69917761 | GGAA | G | intron_variant | MODIFIER | HG00408.hp1 NA18948.hp1 NA18966.hp1 others(3): Show |
a0002a0006 | a0002c0003a0002c0006a0002c0011others(1): Show | a0002c0003t0002a0002c0006t0003a0002c0006t0007others(2): Show | a0002c0003t0002g0100a0002c0003t0002g0103a0002c0006t0003g0098others(3): Show | 6 | 182 | 0.0330 | -3 | c.267 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69960623 | CTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01257.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0002a0002c0004t0002a0002c0004t0011others(3): Show | a0002c0003t0002g0026a0002c0003t0002g0049a0002c0004t0002g0033others(4): Show | 7 | 182 | 0.0385 | -3 | c.981 others(18): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 10/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69974806 | CTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02572.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0022a0002c0003t0011a0002c0004t0001others(5): Show | a0001c0001t0022g0069a0002c0003t0011g0115a0002c0004t0001g0116others(6): Show | 9 | 182 | 0.0495 | -3 | c.102 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70039929 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(98): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(41): Show | a0001c0001t0001g0016a0001c0001t0001g0053a0001c0001t0001g0080others(98): Show | 101 | 182 | 0.5550 | -3 | c.117 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 14/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70064914 | CTCT | C | intron_variant | MODIFIER | HG02109.hp2 HG03209.hp2 HG03471.hp1 |
a0002 | a0002c0004 | a0002c0004t0006a0002c0004t0016 | a0002c0004t0006g0108a0002c0004t0006g0109a0002c0004t0016g0112 | 3 | 182 | 0.0165 | -3 | c.117 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 14/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70074749 | CATT | C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0008t0004others(6): Show | a0001c0001t0001g0143a0001c0001t0006g0107a0001c0008t0004g0004others(9): Show | 12 | 182 | 0.0659 | -3 | c.122 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70077685 | CTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp2 others(59): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(33): Show | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0001t0001g0077others(59): Show | 62 | 182 | 0.3407 | -3 | c.122 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70081863 | CTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00673.hp2 others(51): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(28): Show | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0001t0001g0077others(51): Show | 54 | 182 | 0.2967 | -3 | c.122 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70086794 | ACTC | A | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp1 HG01361.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0002t0008a0001c0008t0004others(3): Show | a0001c0001t0001g0053a0001c0001t0001g0090a0001c0001t0001g0135others(10): Show | 13 | 182 | 0.0714 | -3 | c.122 others(24): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70099056 | TAAA | T | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003others(4): Show | a0001c0001t0001a0001c0007t0017a0001c0007t0033others(8): Show | a0001c0001t0001g0080a0001c0007t0017g0147a0001c0007t0033g0120others(11): Show | 14 | 182 | 0.0769 | -3 | c.122 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70113842 | CTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(22): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0038a0001c0001t0041others(16): Show | a0001c0001t0001g0166a0001c0001t0001g0178a0001c0001t0001g0181others(22): Show | 25 | 182 | 0.1374 | -3 | c.127 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70115825 | GTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00642.hp1 others(19): Show |
a0001a0002a0006 | a0001c0002a0001c0005a0002c0003others(2): Show | a0001c0002t0002a0001c0005t0003a0001c0005t0007others(9): Show | a0001c0002t0002g0055a0001c0005t0003g0102a0001c0005t0003g0140others(19): Show | 22 | 182 | 0.1209 | -3 | c.127 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70134968 | GTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00738.hp1 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0038others(24): Show | a0001c0001t0001g0016a0001c0001t0001g0053a0001c0001t0001g0135others(43): Show | 46 | 182 | 0.2528 | -3 | c.138 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 18/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70144089 | CCTT | C | intron_variant | MODIFIER | HG02040.hp1 HG02165.hp1 HG02683.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0011 | a0001c0001t0001a0001c0007t0005a0001c0007t0017others(2): Show | a0001c0001t0001g0090a0001c0007t0005g0025a0001c0007t0005g0084others(10): Show | 13 | 182 | 0.0714 | -3 | c.162 others(20): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 23/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70188693 | GAAC | G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0041a0001c0005t0003a0001c0005t0007others(12): Show | a0001c0001t0041g0156a0001c0005t0003g0003a0001c0005t0003g0102others(33): Show | 36 | 182 | 0.1978 | -3 | c.302 others(20): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 47/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70192048 | TTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00642.hp1 others(33): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0041a0001c0005t0003a0001c0005t0007others(12): Show | a0001c0001t0041g0156a0001c0005t0003g0003a0001c0005t0003g0102others(33): Show | 36 | 182 | 0.1978 | -3 | c.309 others(22): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 48/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A1_chr17_50179101_50206631 | 50184473 | CACA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG01928.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0029 | a0001c0001t0007g0013a0001c0001t0007g0054a0001c0001t0007g0148others(1): Show | 9 | 448 | 0.0201 | -3 | c.*10 others(14): Show |
COL1A1 | ENSG00000108821.14 | transcript | ENST00000225964.10 | protein_coding | 51/51 | 1026 | chr17 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94396145 | TGAA | T | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01515.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0032 | 3 | 438 | 0.0069 | -3 | c.70+ others(18): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94435083 | CTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG01070.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0009a0001c0001t0001g0023a0001c0001t0001g0029others(38): Show | 51 | 438 | 0.1164 | -3 | c.*46 others(14): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 3857 | chr7 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63303968 | CTCT | C | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02630.hp2 |
a0010a0025 | a0010c0015a0025c0028 | a0010c0015t0004a0025c0028t0021 | a0010c0015t0004g0249a0010c0015t0004g0250a0025c0028t0021g0024 | 3 | 290 | 0.0103 | -3 | c.194 others(20): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63320686 | ACTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(62): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(206): Show | 244 | 290 | 0.8414 | -3 | c.315 others(20): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 25/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56051599 | ATTG | A | downstream_gene_variant | MODIFIER | HG02965.hp1 HG06807.hp1 |
a0001a0013 | a0001c0007a0013c0023 | a0001c0007t0004a0013c0023t0010 | a0001c0007t0004g0067a0013c0023t0010g0011 | 2 | 264 | 0.0076 | -3 | c.*60 others(14): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 4990 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56053842 | AATG | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03098.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058a0001c0001t0008g0059a0001c0001t0008g0061 | 3 | 264 | 0.0114 | -3 | c.*38 others(14): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2747 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098257 | ATAC | A | intron_variant | MODIFIER | HG00099.hp1 NA18939.hp2 NA18971.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0007a0003c0005t0014 | a0003c0005t0007g0119a0003c0005t0007g0122a0003c0005t0007g0200others(2): Show | 5 | 264 | 0.0189 | -3 | c.181 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56110255 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01071.hp1 others(15): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0024others(4): Show | a0001c0001t0014a0001c0002t0002a0001c0024t0022others(5): Show | a0001c0001t0014g0087a0001c0002t0002g0197a0001c0024t0022g0148others(15): Show | 18 | 264 | 0.0682 | -3 | c.175 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56116396 | TAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00639.hp1 others(37): Show |
a0001a0009 | a0001c0001a0009c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0101a0001c0001t0001g0118a0001c0001t0001g0150others(37): Show | 40 | 264 | 0.1515 | -3 | c.175 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56125011 | CTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01074.hp1 others(28): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0107a0001c0001t0003g0064a0001c0001t0003g0085others(28): Show | 31 | 264 | 0.1174 | -3 | c.165 others(20): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 14/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56127619 | TTGA | T | intron_variant | MODIFIER | HG02451.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0107a0001c0002t0001g0105 | 2 | 264 | 0.0076 | -3 | c.154 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56177104 | AAGT | A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0001a0013 | a0001c0001a0001c0007a0001c0014others(2): Show | a0001c0001t0009a0001c0007t0002a0001c0007t0004others(3): Show | a0001c0001t0009g0039a0001c0007t0002g0261a0001c0007t0002g0262others(6): Show | 9 | 264 | 0.0341 | -3 | c.640 others(20): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 3/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56220098 | TAAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02976.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0004a0004c0004t0013a0004c0004t0017 | a0004c0004t0004g0028a0004c0004t0004g0088a0004c0004t0013g0004others(2): Show | 5 | 264 | 0.0189 | -3 | c.-39 others(22): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar |