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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM10_chr15_58583809_58754707 | 58701021 | AC | A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01106.hp1 others(54): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0005 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(29): Show | a0001c0001t0006g0023 a0001c0001t0006g0031 a0001c0001t0006g0074 others(54): Show |
57 | 342 | 0.1667 | -1 | c.206 others(10): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58703291 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG01884.hp1 others(45): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(23): Show | a0001c0001t0001g0282 a0001c0001t0006g0074 a0001c0001t0007g0303 others(45): Show |
48 | 342 | 0.1404 | -1 | c.206 others(10): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58707008 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG01517.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0121 others(9): Show |
12 | 342 | 0.0351 | -1 | c.206 others(10): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58707382 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(85): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0184 a0001c0001t0003g0188 a0001c0001t0003g0189 others(85): Show |
88 | 342 | 0.2573 | -1 | c.206 others(10): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58710705 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(115): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(27): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 others(115): Show |
118 | 342 | 0.3450 | -1 | c.206 others(9): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58718472 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(284): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(108): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 others(284): Show |
287 | 342 | 0.8392 | -1 | c.56- others(7): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58720404 | AT | A | intron_variant | MODIFIER | HG01109.hp1 HG02683.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0096a0001c0001t0098 | a0001c0001t0014g0003 a0001c0001t0014g0005 a0001c0001t0014g0276 others(3): Show |
6 | 342 | 0.0175 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58723042 | AT | A | intron_variant | MODIFIER | HG01243.hp2 HG02083.hp2 HG02258.hp1 others(36): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0007a0001c0001t0013a0001c0001t0019others(16): Show | a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0306 others(36): Show |
39 | 342 | 0.1140 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58724176 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0018others(6): Show | a0001c0001t0001g0066 a0001c0001t0001g0121 a0001c0001t0011g0193 others(11): Show |
14 | 342 | 0.0409 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58725610 | TA | T | intron_variant | MODIFIER | HG00438.hp1 HG03704.hp2 HG03831.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0008 a0001c0001t0001g0056 a0001c0001t0001g0058 others(4): Show |
7 | 342 | 0.0205 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58726082 | CA | C | intron_variant | MODIFIER | HG02083.hp2 NA18943.hp1 NA18947.hp1 others(14): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0007a0001c0001t0013a0001c0001t0019others(4): Show | a0001c0001t0007g0303 a0001c0001t0007g0304 a0001c0001t0007g0308 others(14): Show |
17 | 342 | 0.0497 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58727176 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0032others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0066 others(20): Show |
23 | 342 | 0.0673 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58727205 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00639.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 others(59): Show |
62 | 342 | 0.1813 | -1 | c.56- others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58730002 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(21): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 others(83): Show |
86 | 342 | 0.2515 | -1 | c.56- others(9): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58730003 | CA | C | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(11): Show | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(24): Show |
27 | 342 | 0.0790 | -1 | c.56- others(9): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58733307 | GT | G | intron_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0039a0001c0001t0040 | a0001c0001t0038g0077 a0001c0001t0039g0075 a0001c0001t0040g0076 others(1): Show |
4 | 342 | 0.0117 | -1 | c.56- others(9): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58741329 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(93): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(20): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0108 others(93): Show |
96 | 342 | 0.2807 | -1 | c.55+ others(8): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58751071 | AT | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02083.hp2 others(40): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(18): Show | a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0282 others(40): Show |
43 | 342 | 0.1257 | -1 | c.-15 others(6): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1365 | chr15 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44755224 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(267): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(195): Show |
270 | 336 | 0.8036 | -1 | c.-39 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 3763 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44755673 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00558.hp1 others(44): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(10): Show | a0001c0001t0001g0033 a0001c0001t0001g0108 a0001c0001t0001g0200 others(42): Show |
47 | 336 | 0.1399 | -1 | c.-35 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 3314 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44756282 | CA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0004a0001c0002t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0098 others(6): Show |
9 | 336 | 0.0268 | -1 | c.-29 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2705 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44756622 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(166): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(107): Show |
169 | 336 | 0.5030 | -1 | c.-25 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2365 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44756770 | CA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02145.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0001t0001g0069 a0001c0002t0003g0178 a0001c0002t0007g0032 others(6): Show |
10 | 336 | 0.0298 | -1 | c.-24 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2217 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44761824 | GT | G | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00639.hp1 others(55): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0033 others(40): Show |
58 | 336 | 0.1726 | -1 | c.237 others(9): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44763494 | AG | A | intron_variant | MODIFIER | NA18964.hp1 NA18973.hp2 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0127 a0001c0002t0003g0135 a0001c0002t0003g0136 |
3 | 336 | 0.0089 | -1 | c.237 others(9): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44763721 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0016a0001c0002t0003others(2): Show | a0001c0001t0001g0072 a0001c0001t0001g0128 a0001c0001t0001g0197 others(6): Show |
9 | 336 | 0.0268 | -1 | c.237 others(9): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44767354 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG01168.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0019a0001c0002t0003others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0064 a0001c0001t0001g0082 others(16): Show |
20 | 336 | 0.0595 | -1 | c.238 others(9): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44769772 | AC | A | frameshift_variant | HIGH | NA18956.hp1 | a0009 | a0009c0021 | a0009c0021t0014 | a0009c0021t0014g0104 | 1 | 336 | 0.0030 | -1 | c.295 others(4): Show |
p.Leu others(4): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 3/27 | 507/4614 | 295/2310 | 99/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44770488 | TC | T | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00673.hp2 others(33): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0007a0001c0003t0002others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0033 others(23): Show |
36 | 336 | 0.1071 | -1 | c.381 others(8): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44770499 | CG | C | intron_variant | MODIFIER | HG02145.hp1 HG03654.hp2 NA19030.hp2 others(1): Show |
a0001a0015 | a0001c0001a0001c0002a0015c0018 | a0001c0001t0015a0001c0002t0007a0001c0002t0032others(1): Show | a0001c0001t0015g0228 a0001c0002t0007g0190 a0001c0002t0032g0215 others(1): Show |
4 | 336 | 0.0119 | -1 | c.381 others(8): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/26 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44770872 | TG | T | intron_variant | MODIFIER | NA18956.hp1 NA18987.hp1 NA19068.hp2 |
a0001a0009a0014 | a0001c0001a0009c0021a0014c0008 | a0001c0001t0001a0009c0021t0014a0014c0008t0002 | a0001c0001t0001g0121 a0009c0021t0014g0104 a0014c0008t0002g0037 |
3 | 336 | 0.0089 | -1 | c.382 others(8): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44771297 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(99): Show |
153 | 336 | 0.4554 | -1 | c.382 others(8): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44771806 | TG | T | frameshift_variant | HIGH | NA19068.hp2 | a0014 | a0014c0008 | a0014c0008t0002 | a0014c0008t0002g0037 | 1 | 336 | 0.0030 | -1 | c.520 others(4): Show |
p.Ala others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 6/27 | 732/4614 | 520/2310 | 174/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44771823 | GC | G | frameshift_variant | HIGH | NA18956.hp1 | a0009 | a0009c0021 | a0009c0021t0014 | a0009c0021t0014g0104 | 1 | 336 | 0.0030 | -1 | c.539 others(4): Show |
p.Pro others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 6/27 | 751/4614 | 539/2310 | 180/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44772304 | TC | T | frameshift_variant | HIGH | NA19068.hp2 | a0014 | a0014c0008 | a0014c0008t0002 | a0014c0008t0002g0037 | 1 | 336 | 0.0030 | -1 | c.584 others(4): Show |
p.Pro others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 7/27 | 796/4614 | 584/2310 | 195/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44777480 | AG | A | frameshift_variant others(1): Show |
HIGH | NA19063.hp1 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0201 | 1 | 336 | 0.0030 | -1 | c.178 others(5): Show |
p.Asp others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 22/27 | 1995/4614 | 1783/2310 | 595/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44777823 | GC | G | frameshift_variant | HIGH | NA19063.hp1 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0201 | 1 | 336 | 0.0030 | -1 | c.203 others(5): Show |
p.Gly others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 23/27 | 2246/4614 | 2034/2310 | 678/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44777852 | TC | T | frameshift_variant | HIGH | NA19063.hp1 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0201 | 1 | 336 | 0.0030 | -1 | c.206 others(5): Show |
p.His others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 23/27 | 2274/4614 | 2062/2310 | 688/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44778043 | CG | C | frameshift_variant | HIGH | NA18946.hp2 | a0008 | a0008c0013 | a0008c0013t0002 | a0008c0013t0002g0046 | 1 | 336 | 0.0030 | -1 | c.216 others(5): Show |
p.Glu others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 24/27 | 2379/4614 | 2167/2310 | 723/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44778153 | TC | T | frameshift_variant | HIGH | NA19063.hp1 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0201 | 1 | 336 | 0.0030 | -1 | c.219 others(5): Show |
p.Ser others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/27 | 2402/4614 | 2190/2310 | 730/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44778163 | AC | A | frameshift_variant | HIGH | NA19063.hp1 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0201 | 1 | 336 | 0.0030 | -1 | c.219 others(5): Show |
p.Asn others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/27 | 2411/4614 | 2199/2310 | 733/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44778232 | TG | T | frameshift_variant | HIGH | NA19063.hp1 | a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0201 | 1 | 336 | 0.0030 | -1 | c.227 others(5): Show |
p.Gly others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/27 | 2482/4614 | 2270/2310 | 757/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44778688 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG02015.hp1 HG02809.hp2 others(9): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0006others(2): Show | a0001c0001t0001g0197 a0001c0002t0004g0014 a0001c0002t0004g0213 others(7): Show |
12 | 336 | 0.0357 | -1 | c.227 others(9): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM11_chr17_44753988_44786846 | 44779745 | AG | A | frameshift_variant | HIGH | NA18956.hp1 | a0009 | a0009c0021 | a0009c0021t0014 | a0009c0021t0014g0104 | 1 | 336 | 0.0030 | -1 | c.230 others(5): Show |
p.Ala others(5): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 27/27 | 2517/4614 | 2305/2310 | 769/769 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
ADAM11_chr17_44753988_44786846 | 44784185 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(241): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(34): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(171): Show |
244 | 336 | 0.7262 | -1 | c.*44 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2340 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44785092 | CT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp1 others(5): Show |
a0001a0010 | a0001c0002a0010c0012 | a0001c0002t0003a0001c0002t0022a0001c0002t0026others(1): Show | a0001c0002t0003g0011 a0001c0002t0003g0137 a0001c0002t0003g0138 others(4): Show |
8 | 336 | 0.0238 | -1 | c.*53 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 3247 | chr17 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44785379 | AC | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 others(3): Show |
6 | 336 | 0.0179 | -1 | c.*56 others(6): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 3534 | chr17 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126014311 | CG | C | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01175.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0002c0006others(3): Show | a0001c0002t0005a0001c0002t0038a0002c0001t0005others(4): Show | a0001c0002t0005g0210 a0001c0002t0005g0250 a0001c0002t0005g0251 others(12): Show |
15 | 252 | 0.0595 | -1 | c.*29 others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 2967 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126014313 | GT | G | 3_prime_UTR_variant | MODIFIER | HG01169.hp1 HG02109.hp1 HG02145.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0012others(8): Show | a0001c0002t0011a0001c0002t0020a0001c0002t0025others(11): Show | a0001c0002t0011g0178 a0001c0002t0011g0191 a0001c0002t0020g0018 others(15): Show |
18 | 252 | 0.0714 | -1 | c.*29 others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 2965 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126014426 | GC | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(133): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(33): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0011others(74): Show | a0001c0002t0002g0022 a0001c0002t0002g0031 a0001c0002t0002g0038 others(133): Show |
136 | 252 | 0.5397 | -1 | c.*28 others(6): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 23/23 | 2852 | chr10 | TogoVar |