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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS19_chr5_129455298_129743683 | 129669088 | G | GTA | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp1 HG02056.hp2 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0017a0001c0001t0002g0016a0001c0001t0002g0175others(14): Show | 17 | 226 | 0.0752 | 2 | c.250 others(21): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129672809 | T | TAC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116a0001c0001t0002g0224a0001c0001t0002g0225 | 3 | 226 | 0.0133 | 2 | c.250 others(21): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129683409 | T | TTA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0010others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(14): Show | 18 | 226 | 0.0797 | 2 | c.266 others(19): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129702929 | C | CAA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00735.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0006t0001others(2): Show | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0002g0139others(9): Show | 12 | 226 | 0.0531 | 2 | c.316 others(21): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129708590 | C | CAA | intron_variant | MODIFIER | HG00423.hp1 HG01346.hp1 HG01433.hp2 others(11): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0013 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0116a0001c0001t0001g0136others(11): Show | 14 | 226 | 0.0620 | 2 | c.331 others(21): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129714425 | C | CAA | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG02056.hp2 others(4): Show |
a0001a0002 | a0001c0006a0001c0008a0002c0002 | a0001c0006t0001a0001c0008t0002a0002c0002t0001others(2): Show | a0001c0006t0001g0197a0001c0008t0002g0013a0002c0002t0001g0086others(4): Show | 7 | 226 | 0.0310 | 2 | c.331 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129716573 | C | CTT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(42): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(42): Show | 45 | 226 | 0.1991 | 2 | c.331 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129720148 | G | GTA | intron_variant | MODIFIER | HG02896.hp2 HG03453.hp1 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0011a0001c0008t0004g0012 | 2 | 226 | 0.0089 | 2 | c.331 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129720168 | A | ATT | intron_variant | MODIFIER | NA18948.hp2 NA18957.hp2 NA19062.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0006a0002c0002t0006 | a0001c0001t0002g0018a0001c0006t0006g0125a0002c0002t0006g0101others(2): Show | 5 | 226 | 0.0221 | 2 | c.331 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS19_chr5_129455298_129743683 | 129721597 | T | TTA | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0007a0002c0004t0005 | a0001c0001t0005g0056a0001c0001t0005g0129a0001c0001t0005g0221others(3): Show | 6 | 226 | 0.0266 | 2 | c.331 others(23): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129739672 | T | TGA | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02723.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0010a0001c0001t0013others(1): Show | a0001c0001t0007g0041a0001c0001t0007g0051a0001c0001t0007g0113others(3): Show | 6 | 226 | 0.0266 | 2 | c.*24 others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 990 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129743432 | C | CTA | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03834.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0118a0001c0003t0002g0210 | 2 | 226 | 0.0089 | 2 | c.*62 others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 4750 | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129743440 | A | ATG | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0051a0001c0001t0007g0113 | 2 | 226 | 0.0089 | 2 | c.*62 others(13): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 4758 | chr5 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26831826 | C | CAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0025others(31): Show | 56 | 480 | 0.1167 | 2 | c.*57 others(13): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 3928 | chr21 | TogoVar | ||||||
ADAMTS1_chr21_26830755_26850409 | 26849678 | T | TTG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0024others(30): Show | 52 | 480 | 0.1083 | 2 | c.-47 others(13): Show |
ADAMTS1 | ENSG00000154734.16 | transcript | ENST00000284984.8 | protein_coding | 4270 | chr21 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43358836 | C | CAA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01192.hp2 others(24): Show |
a0001a0002a0016 | a0001c0003a0001c0005a0001c0009others(5): Show | a0001c0003t0001a0001c0005t0001a0001c0009t0001others(5): Show | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(24): Show | 27 | 306 | 0.0882 | 2 | c.553 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 37/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43375172 | C | CAA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01106.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0009others(5): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(7): Show | a0001c0002t0001g0140a0001c0003t0001g0008a0001c0003t0001g0181others(22): Show | 25 | 306 | 0.0817 | 2 | c.544 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 36/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43377801 | C | CGT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0004others(6): Show | a0001c0003a0001c0005a0001c0009others(11): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0004others(14): Show | a0001c0003t0001g0008a0001c0003t0001g0010a0001c0003t0001g0129others(78): Show | 81 | 306 | 0.2647 | 2 | c.479 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43381618 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG02071.hp2 HG02165.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0010 | a0001c0001t0001a0001c0002t0001a0005c0010t0001 | a0001c0001t0001g0042a0001c0001t0001g0064a0001c0001t0001g0065others(6): Show | 9 | 306 | 0.0294 | 2 | c.479 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43381780 | C | CAA | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01981.hp2 others(7): Show |
a0001a0004a0018 | a0001c0002a0001c0003a0004c0006others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(2): Show | a0001c0002t0001g0104a0001c0003t0001g0149a0001c0003t0001g0204others(7): Show | 10 | 306 | 0.0327 | 2 | c.479 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 31/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43401741 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp2 others(71): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0005others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(13): Show | a0001c0002t0001g0020a0001c0002t0001g0052a0001c0002t0001g0053others(71): Show | 74 | 306 | 0.2418 | 2 | c.428 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43404178 | G | GAC | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp2 others(51): Show |
a0001a0004a0017others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0062a0001c0001t0001g0074a0001c0001t0001g0077others(51): Show | 54 | 306 | 0.1765 | 2 | c.428 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CAA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02965.hp2 others(7): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(3): Show | a0001c0001t0001g0175a0001c0002t0002g0283a0001c0002t0002g0300others(7): Show | 10 | 306 | 0.0327 | 2 | c.428 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCA | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG01516.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(17): Show | 20 | 306 | 0.0654 | 2 | c.428 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43412802 | A | ATT | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG02602.hp1 others(3): Show |
a0001a0004a0012 | a0001c0003a0004c0006a0012c0024 | a0001c0003t0001a0001c0003t0004a0004c0006t0001others(1): Show | a0001c0003t0001g0010a0001c0003t0001g0187a0001c0003t0001g0188others(3): Show | 6 | 306 | 0.0196 | 2 | c.428 others(23): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43416524 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(128): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(128): Show | 131 | 306 | 0.4281 | 2 | c.428 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43435641 | T | TAA | intron_variant | MODIFIER | HG01106.hp1 NA18942.hp1 NA18942.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0112a0001c0002t0002g0278a0001c0002t0002g0279others(4): Show | 7 | 306 | 0.0229 | 2 | c.259 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 18/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43435683 | T | TAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(133): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(133): Show | 136 | 306 | 0.4444 | 2 | c.259 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 18/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43445677 | T | TAC | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00639.hp2 others(44): Show |
a0001a0002a0008others(2): Show | a0001c0002a0001c0003a0001c0011others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(10): Show | a0001c0002t0001g0198a0001c0002t0001g0199a0001c0002t0001g0212others(44): Show | 47 | 306 | 0.1536 | 2 | c.219 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 15/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43460964 | T | TTA | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02723.hp2 others(7): Show |
a0001a0012 | a0001c0003a0012c0024 | a0001c0003t0001a0001c0003t0004a0012c0024t0001 | a0001c0003t0001g0010a0001c0003t0001g0181a0001c0003t0001g0182others(7): Show | 10 | 306 | 0.0327 | 2 | c.161 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 11/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43466467 | G | GTA | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01891.hp2 others(21): Show |
a0001a0002a0016 | a0001c0001a0002c0004a0002c0026others(2): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(3): Show | a0001c0001t0001g0222a0001c0001t0001g0250a0002c0004t0001g0015others(21): Show | 24 | 306 | 0.0784 | 2 | c.136 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 9/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43485110 | A | AGC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(115): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(115): Show | 118 | 306 | 0.3856 | 2 | c.111 others(21): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 7/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501461 | A | ACG | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01169.hp1 others(8): Show |
a0001a0005 | a0001c0002a0005c0010 | a0001c0002t0001a0001c0002t0002a0005c0010t0001 | a0001c0002t0001g0113a0001c0002t0001g0121a0001c0002t0001g0128others(8): Show | 11 | 306 | 0.0360 | 2 | c.867 others(17): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43501481 | G | GCA | intron_variant | MODIFIER | HG01106.hp2 HG02132.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0127a0001c0002t0001g0139a0001c0002t0001g0140others(1): Show | 4 | 306 | 0.0131 | 2 | c.867 others(17): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 4/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43506155 | C | CAA | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02257.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0129a0001c0003t0001g0130a0001c0003t0001g0131others(2): Show | 5 | 306 | 0.0163 | 2 | c.614 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43507024 | T | TAA | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00673.hp2 others(37): Show |
a0001a0005a0015 | a0001c0002a0001c0011a0005c0010others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0011t0001others(2): Show | a0001c0002t0001g0011a0001c0002t0001g0075a0001c0002t0001g0089others(37): Show | 40 | 306 | 0.1307 | 2 | c.614 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43528348 | C | CAA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01167.hp1 others(14): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0002t0001g0199a0001c0002t0001g0212a0001c0003t0001g0149others(14): Show | 17 | 306 | 0.0556 | 2 | c.613 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 3/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43532540 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 HG01192.hp1 others(23): Show |
a0001a0007a0012others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0004others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0003a0001c0001t0003g0004others(23): Show | 26 | 306 | 0.0850 | 2 | c.454 others(17): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43532555 | G | GTT | intron_variant | MODIFIER | HG00423.hp2 HG01192.hp2 HG02055.hp1 others(13): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0067a0001c0001t0001g0068others(13): Show | 16 | 306 | 0.0523 | 2 | c.454 others(17): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43539886 | A | ATT | intron_variant | MODIFIER | HG00408.hp1 HG03239.hp1 NA18947.hp2 others(20): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(20): Show | 23 | 306 | 0.0752 | 2 | c.454 others(19): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43551756 | T | TCC | intron_variant | MODIFIER | NA18961.hp2 NA18963.hp1 NA18968.hp1 others(5): Show |
a0001a0018 | a0001c0001a0001c0005a0018c0016 | a0001c0001t0001a0001c0005t0001a0018c0016t0001 | a0001c0001t0001g0250a0001c0005t0001g0244a0001c0005t0001g0245others(5): Show | 8 | 306 | 0.0261 | 2 | c.91+ others(13): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 1/38 | chr12 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43554850 | T | TAA | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02486.hp2 others(7): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0013 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0175a0001c0001t0003g0002others(7): Show | 10 | 306 | 0.0327 | 2 | c.-29 others(13): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 2648 | chr12 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179109743 | C | CAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp2 others(77): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0014others(40): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0004others(49): Show | a0001c0001t0001g0009a0001c0001t0004g0111a0001c0004t0004g0004others(77): Show | 80 | 276 | 0.2899 | 2 | c.*41 others(13): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 1109 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179131306 | C | CCA | intron_variant | MODIFIER | HG02647.hp1 NA19030.hp1 NA19030.hp2 |
a0002a0029 | a0002c0042a0002c0043a0029c0104 | a0002c0042t0001a0002c0043t0014a0029c0104t0027 | a0002c0042t0001g0145a0002c0043t0014g0193a0029c0104t0027g0221 | 3 | 276 | 0.0109 | 2 | c.229 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 15/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179143742 | T | TTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(51): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0014a0001c0018others(29): Show | a0001c0001t0013a0001c0014t0002a0001c0014t0013others(35): Show | a0001c0001t0013g0021a0001c0014t0002g0073a0001c0014t0002g0131others(51): Show | 54 | 276 | 0.1957 | 2 | c.163 others(21): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GCT | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 HG01261.hp1 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0014others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0004others(25): Show | a0001c0001t0002g0105a0001c0001t0004g0064a0001c0001t0004g0081others(27): Show | 30 | 276 | 0.1087 | 2 | c.892 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179189510 | G | GTT | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp2 others(23): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0075a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0075t0020others(17): Show | a0001c0001t0001g0054a0001c0001t0001g0069a0001c0001t0002g0036others(23): Show | 26 | 276 | 0.0942 | 2 | c.892 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179200244 | C | CTT | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02129.hp1 others(9): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0004others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0004g0122others(9): Show | 12 | 276 | 0.0435 | 2 | c.891 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179201631 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(97): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0014others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(63): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0126others(97): Show | 100 | 276 | 0.3623 | 2 | c.891 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4/21 | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179209522 | G | GCA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(27): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0014others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0004others(27): Show | a0001c0001t0001g0007a0001c0001t0004g0122a0001c0004t0004g0196others(27): Show | 30 | 276 | 0.1087 | 2 | c.689 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar |