view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS7_chr15_78754206_78816464 | 78806128 | A | ACAC | intron_variant | MODIFIER | HG00673.hp2 HG01975.hp2 HG01981.hp2 others(8): Show |
a0001a0002a0012others(2): Show | a0001c0021a0002c0001a0012c0015others(2): Show | a0001c0021t0001a0002c0001t0001a0002c0001t0006others(3): Show | a0001c0021t0001g0222 a0002c0001t0001g0001 a0002c0001t0001g0077 others(7): Show |
11 | 332 | 0.0331 | 3 | c.100 others(20): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130415603 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG02145.hp2 others(8): Show |
a0002a0003a0005others(2): Show | a0002c0004a0003c0002a0005c0005others(2): Show | a0002c0004t0002a0003c0002t0002a0003c0002t0007others(3): Show | a0002c0004t0002g0242 a0003c0002t0002g0040 a0003c0002t0002g0230 others(6): Show |
11 | 127 | 0.0866 | 3 | c.126 others(20): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 4/8 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130418007 | C | CAAA | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01109.hp1 others(19): Show |
a0002a0003a0004others(3): Show | a0002c0004a0003c0002a0004c0009others(5): Show | a0002c0004t0002a0002c0004t0003a0003c0002t0002others(9): Show | a0002c0004t0002g0191 a0002c0004t0002g0193 a0002c0004t0002g0194 others(17): Show |
22 | 177 | 0.1243 | 3 | c.961 others(18): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130418902 | A | ACCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(355): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0008a0001c0010others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(67): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(261): Show |
358 | 422 | 0.8483 | 3 | c.960 others(18): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130428222 | G | GGCA | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(30): Show |
a0004 | a0004c0009a0004c0011a0004c0014others(4): Show | a0004c0009t0002a0004c0011t0002a0004c0014t0002others(6): Show | a0004c0009t0002g0017 a0004c0009t0002g0018 a0004c0009t0002g0278 others(25): Show |
33 | 225 | 0.1467 | 3 | c.62_ others(8): Show |
p.Leu others(5): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 387/3628 | 64/2670 | 22/889 | chr11 | TogoVar | |||
ADAMTS8_chr11_130399923_130433609 | 130429409 | T | TGAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00738.hp2 others(41): Show |
a0002a0003a0004others(6): Show | a0002c0004a0003c0002a0004c0009others(10): Show | a0002c0004t0002a0002c0004t0010a0003c0002t0002others(17): Show | a0002c0004t0002g0191 a0002c0004t0002g0193 a0002c0004t0002g0194 others(37): Show |
44 | 422 | 0.1043 | 3 | c.-11 others(14): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 801 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130431292 | A | ACCG | upstream_gene_variant | MODIFIER | HG02965.hp2 HG03471.hp1 HG03516.hp1 |
a0007a0012 | a0007c0040a0012c0019 | a0007c0040t0002a0012c0019t0003 | a0007c0040t0002g0186 a0012c0019t0003g0032 |
3 | 422 | 0.0071 | 3 | c.-30 others(14): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2684 | chr11 | TogoVar | |||||||
ADAMTS8_chr11_130399923_130433609 | 130431304 | G | GCCA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01243.hp2 others(28): Show |
a0002a0003a0004others(4): Show | a0002c0004a0003c0002a0004c0023others(6): Show | a0002c0004t0002a0003c0002t0002a0004c0023t0009others(8): Show | a0002c0004t0002g0038 a0002c0004t0002g0233 a0003c0002t0002g0192 others(26): Show |
31 | 421 | 0.0736 | 3 | c.-30 others(14): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2696 | chr11 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64514217 | C | CTTT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02258.hp2 HG02647.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(1): Show | a0001c0001t0001g0090 a0001c0001t0001g0143 a0001c0001t0001g0263 others(5): Show |
8 | 18 | 0.4444 | 3 | c.*29 others(14): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 1436 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64518764 | A | ATTT | intron_variant | MODIFIER | HG02056.hp1 HG04184.hp1 NA18939.hp1 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0008others(1): Show | a0001c0001t0002a0003c0003t0002a0005c0008t0002others(1): Show | a0001c0001t0002g0089 a0001c0001t0002g0184 a0001c0001t0002g0202 others(3): Show |
6 | 98 | 0.0612 | 3 | c.*6- others(18): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 39/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64529982 | A | ATTT | intron_variant | MODIFIER | HG02257.hp1 HG03098.hp2 NA18965.hp1 others(5): Show |
a0001a0025 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0002a0001c0007t0002a0001c0009t0005others(1): Show | a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0137 others(5): Show |
8 | 39 | 0.2051 | 3 | c.571 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 38/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64545012 | G | GCTC | intron_variant | MODIFIER | HG00621.hp2 HG01071.hp2 HG01099.hp1 others(37): Show |
a0002a0004a0005others(4): Show | a0002c0002a0004c0005a0005c0008others(4): Show | a0002c0002t0001a0002c0002t0003a0004c0005t0003others(8): Show | a0002c0002t0001g0121 a0002c0002t0003g0074 a0002c0002t0003g0077 others(37): Show |
40 | 58 | 0.6897 | 3 | c.506 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 32/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64547512 | A | ATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(120): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0004a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(118): Show |
123 | 134 | 0.9179 | 3 | c.487 others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 31/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64561064 | C | CCTT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(67): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0067 others(66): Show |
70 | 284 | 0.2465 | 3 | c.469 others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64561065 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp2 others(103): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0018 a0001c0001t0001g0090 a0001c0001t0001g0093 others(103): Show |
106 | 240 | 0.4417 | 3 | c.469 others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64561321 | G | GTTT | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp2 HG02523.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0014a0002c0002a0004c0005others(1): Show | a0001c0014t0001a0001c0014t0002a0002c0002t0003others(2): Show | a0001c0014t0001g0091 a0001c0014t0001g0115 a0001c0014t0002g0126 others(4): Show |
7 | 121 | 0.0579 | 3 | c.469 others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 30/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64573079 | T | TAAA | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(12): Show | a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0087 others(42): Show |
45 | 102 | 0.4412 | 3 | c.435 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64574559 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00735.hp2 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(15): Show | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 others(36): Show |
39 | 109 | 0.3578 | 3 | c.435 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64600051 | C | CTTT | intron_variant | MODIFIER | HG02155.hp2 HG02257.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0199 a0001c0001t0002g0065 others(3): Show |
6 | 92 | 0.0652 | 3 | c.401 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 26/39 | chr3 | TogoVar | |||||||
ADAMTS9_chr3_64510654_64693000 | 64639293 | G | GTTT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(63): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0007a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(21): Show | a0001c0001t0001g0018 a0001c0001t0001g0080 a0001c0001t0001g0087 others(63): Show |
66 | 179 | 0.3687 | 3 | c.185 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 12/39 | chr3 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18509190 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG02074.hp1 others(5): Show |
a0001a0002a0016 | a0001c0002a0001c0006a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(4): Show | a0001c0002t0001g0125 a0001c0002t0003g0156 a0001c0002t0004g0091 others(5): Show |
8 | 44 | 0.1818 | 3 | c.191 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18537988 | G | GGAA | intron_variant | MODIFIER | HG01175.hp1 HG02451.hp2 HG02965.hp1 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0005others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(14): Show | a0001c0002t0001g0052 a0001c0002t0002g0131 a0001c0003t0002g0184 others(16): Show |
19 | 215 | 0.0884 | 3 | c.237 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18547300 | T | TTAA | intron_variant | MODIFIER | HG01175.hp1 HG03209.hp2 HG03654.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0002a0001c0003t0002a0001c0005t0003others(8): Show | a0001c0002t0002g0131 a0001c0003t0002g0184 a0001c0005t0003g0011 others(10): Show |
13 | 216 | 0.0602 | 3 | c.237 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18568726 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0005others(29): Show | a0001c0002t0008a0001c0003t0001a0001c0003t0002others(38): Show | a0001c0002t0008g0086 a0001c0003t0001g0146 a0001c0003t0001g0173 others(46): Show |
49 | 121 | 0.4050 | 3 | c.238 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18593224 | T | TGCC | intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0002c0001t0009 | a0001c0003t0003g0164 a0002c0001t0009g0010 |
2 | 216 | 0.0093 | 3 | c.474 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18618528 | G | GAAA | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01175.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0007others(10): Show | a0001c0002t0004a0001c0003t0001a0001c0003t0002others(19): Show | a0001c0002t0004g0091 a0001c0003t0001g0146 a0001c0003t0001g0173 others(24): Show |
27 | 171 | 0.1579 | 3 | c.475 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18633638 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(58): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(30): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(49): Show | a0001c0002t0001g0052 a0001c0002t0002g0063 a0001c0002t0002g0066 others(58): Show |
61 | 152 | 0.4013 | 3 | c.602 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18681695 | T | TGAG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(18): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0006others(12): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0030others(18): Show | a0001c0002t0002g0131 a0001c0002t0004g0064 a0001c0002t0030g0083 others(18): Show |
21 | 206 | 0.1019 | 3 | c.134 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | AAAT | intron_variant | MODIFIER | HG03492.hp2 NA18612.hp1 NA18944.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0004a0001c0003t0002a0001c0005t0004others(2): Show | a0001c0002t0004g0080 a0001c0003t0002g0184 a0001c0005t0004g0167 others(3): Show |
6 | 38 | 0.1579 | 3 | c.157 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18688689 | A | ATAT | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01975.hp2 |
a0001a0002 | a0001c0042a0002c0001a0002c0036 | a0001c0042t0003a0002c0001t0003a0002c0036t0001 | a0001c0042t0003g0195 a0002c0001t0003g0192 a0002c0036t0001g0136 |
3 | 35 | 0.0857 | 3 | c.157 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 13/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18710661 | G | GTTT | intron_variant | MODIFIER | HG00438.hp2 HG01168.hp2 HG01255.hp2 others(6): Show |
a0001a0002a0004others(3): Show | a0001c0006a0001c0069a0002c0001others(6): Show | a0001c0006t0003a0001c0069t0004a0002c0001t0023others(6): Show | a0001c0006t0003g0129 a0001c0069t0004g0054 a0002c0001t0023g0016 others(6): Show |
9 | 109 | 0.0826 | 3 | c.187 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18733629 | C | CCCA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(30): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(38): Show | a0001c0002t0002g0128 a0001c0002t0004g0064 a0001c0002t0004g0091 others(46): Show |
49 | 203 | 0.2414 | 3 | c.200 others(24): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18757038 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(23): Show | a0001c0002a0001c0003a0001c0005others(65): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(115): Show | a0001c0002t0001g0052 a0001c0002t0001g0090 a0001c0002t0001g0125 others(155): Show |
158 | 216 | 0.7315 | 3 | c.221 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18757299 | A | ATCC | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 NA18522.hp1 |
a0001a0002a0012 | a0001c0005a0002c0001a0012c0052 | a0001c0005t0002a0002c0001t0002a0012c0052t0002 | a0001c0005t0002g0117 a0002c0001t0002g0190 a0012c0052t0002g0139 |
3 | 215 | 0.0140 | 3 | c.221 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18771705 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(20): Show |
a0001a0002a0005 | a0001c0003a0001c0006a0001c0007others(7): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0029others(13): Show | a0001c0003t0002g0116 a0001c0003t0005g0211 a0001c0003t0029g0025 others(20): Show |
23 | 81 | 0.2840 | 3 | c.239 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18794027 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp2 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0001c0007others(15): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0029others(22): Show | a0001c0003t0002g0116 a0001c0003t0002g0126 a0001c0003t0002g0182 others(33): Show |
36 | 214 | 0.1682 | 3 | c.367 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18807645 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0049a0002c0001others(6): Show | a0001c0007t0004a0001c0049t0001a0002c0001t0002others(8): Show | a0001c0007t0004g0171 a0001c0049t0001g0148 a0002c0001t0002g0200 others(9): Show |
12 | 206 | 0.0583 | 3 | c.380 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18811012 | C | CAAA | intron_variant | MODIFIER | HG00639.hp2 HG02074.hp2 HG03710.hp1 others(7): Show |
a0001a0002a0003 | a0001c0010a0002c0001a0002c0004others(4): Show | a0001c0010t0001a0002c0001t0001a0002c0001t0002others(7): Show | a0001c0010t0001g0060 a0002c0001t0001g0185 a0002c0001t0002g0200 others(7): Show |
10 | 87 | 0.1149 | 3 | c.380 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18827162 | T | TAAA | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG03491.hp1 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0003a0001c0005a0001c0054others(4): Show | a0001c0003t0003a0001c0005t0002a0001c0054t0004others(4): Show | a0001c0003t0003g0015 a0001c0005t0002g0009 a0001c0054t0004g0120 others(4): Show |
7 | 38 | 0.1842 | 3 | c.411 others(20): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18856460 | A | ATTT | intron_variant | MODIFIER | HG01517.hp1 HG02451.hp1 HG02683.hp2 others(5): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0055a0002c0004others(5): Show | a0001c0002t0008a0001c0055t0002a0002c0004t0008others(5): Show | a0001c0002t0008g0086 a0001c0055t0002g0209 a0002c0004t0008g0089 others(5): Show |
8 | 51 | 0.1569 | 3 | c.424 others(24): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18890940 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(162): Show |
a0001a0002a0003others(23): Show | a0001c0002a0001c0003a0001c0005others(70): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(112): Show | a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0066 others(162): Show |
165 | 216 | 0.7639 | 3 | c.464 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18904732 | C | CTTT | intron_variant | MODIFIER | HG01257.hp2 HG01517.hp1 HG02074.hp2 others(8): Show |
a0001a0002a0006others(3): Show | a0001c0002a0001c0003a0001c0007others(7): Show | a0001c0002t0008a0001c0003t0015a0001c0007t0031others(8): Show | a0001c0002t0008g0086 a0001c0003t0015g0188 a0001c0007t0031g0140 others(8): Show |
11 | 102 | 0.1078 | 3 | c.485 others(22): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 26/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18909810 | T | TATC | 3_prime_UTR_variant | MODIFIER | HG01517.hp1 HG03704.hp1 HG03831.hp1 |
a0001a0002a0006 | a0001c0002a0002c0004a0006c0073 | a0001c0002t0008a0002c0004t0008a0006c0073t0008 | a0001c0002t0008g0086 a0002c0004t0008g0089 a0006c0073t0008g0071 |
3 | 216 | 0.0139 | 3 | c.*12 others(14): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 29/29 | 1266 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL1_chr9_18469153_18915950 | 18910418 | A | AGTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(36): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0005others(21): Show | a0001c0002t0004a0001c0003t0029a0001c0005t0004others(24): Show | a0001c0002t0004g0046 a0001c0002t0004g0064 a0001c0002t0004g0080 others(36): Show |
39 | 216 | 0.1806 | 3 | c.*18 others(14): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 29/29 | 1876 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTSL2_chr9_133529704_133580519 | 133541292 | C | CTTT | intron_variant | MODIFIER | HG00140.hp2 HG01433.hp2 HG01515.hp2 others(2): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0020others(1): Show | a0001c0005t0002a0001c0007t0001a0001c0020t0012others(1): Show | a0001c0005t0002g0145 a0001c0007t0001g0060 a0001c0020t0012g0005 others(2): Show |
5 | 136 | 0.0368 | 3 | c.682 others(18): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133544984 | C | CTGA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(4): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0020others(1): Show | a0001c0005t0002a0001c0007t0001a0001c0020t0012others(1): Show | a0001c0005t0002g0145 a0001c0007t0001g0060 a0001c0020t0012g0005 others(4): Show |
7 | 150 | 0.0467 | 3 | c.763 others(18): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133551296 | G | GACC | intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0001a0001c0006t0006others(1): Show | a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0006t0001g0081 others(3): Show |
6 | 134 | 0.0448 | 3 | c.940 others(20): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 9/18 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133563901 | A | AAGG | intron_variant | MODIFIER | HG01261.hp2 HG03130.hp1 |
a0001 | a0001c0006a0001c0031 | a0001c0006t0001a0001c0031t0011 | a0001c0006t0001g0128 a0001c0031t0011g0004 |
2 | 87 | 0.0230 | 3 | c.174 others(22): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133564003 | A | AAGG | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG01884.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0011a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0115 a0001c0001t0001g0146 others(6): Show |
9 | 133 | 0.0677 | 3 | c.174 others(22): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ADAMTSL2_chr9_133529704_133580519 | 133564005 | G | GGGA | intron_variant | MODIFIER | HG01261.hp1 HG02622.hp2 HG04228.hp1 others(1): Show |
a0001a0003 | a0001c0006a0001c0007a0001c0008others(1): Show | a0001c0006t0001a0001c0007t0001a0001c0008t0002others(1): Show | a0001c0006t0001g0081 a0001c0007t0001g0073 a0001c0008t0002g0024 others(1): Show |
4 | 127 | 0.0315 | 3 | c.174 others(22): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |