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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACCSL_chr11_44042981_44064977 | 44064607 | ATTT | A | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02809.hp2 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
7 | 137 | 0.0511 | -3 | c.*46 others(14): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4631 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44061467 | TTTG | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01884.hp1 others(24): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0003c0002t0001others(3): Show | a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0004g0037 others(17): Show |
27 | 218 | 0.1239 | -3 | c.-52 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 4802 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44062366 | TTTC | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(23): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0002a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0003c0002t0001others(3): Show | a0001c0001t0001g0107 a0001c0001t0004g0037 a0001c0001t0004g0108 others(16): Show |
26 | 436 | 0.0596 | -3 | c.-43 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 3903 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44064602 | ATGT | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02896.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 a0002c0003t0001g0026 a0002c0003t0001g0028 others(1): Show |
6 | 425 | 0.0141 | -3 | c.-20 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1667 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44064607 | ATTT | A | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02818.hp2 NA18944.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0002c0003t0002a0002c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0120 a0001c0001t0001g0122 others(5): Show |
8 | 133 | 0.0602 | -3 | c.-20 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 1662 | chr11 | TogoVar | |||||||
ACCS_chr11_44061270_44089237 | 44065496 | CTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0004t0001others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0021 others(29): Show |
38 | 200 | 0.1900 | -3 | c.-12 others(14): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 773 | chr11 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6308435 | CAAA | C | intron_variant | MODIFIER | HG02273.hp1 HG02735.hp1 HG03491.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0081 a0001c0001t0001g0228 a0001c0001t0001g0229 others(4): Show |
7 | 79 | 0.0886 | -3 | c.489 others(20): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6311598 | GAGA | G | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0112 others(32): Show |
37 | 394 | 0.0939 | -3 | c.350 others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6311631 | GAGA | G | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0191 others(4): Show |
7 | 394 | 0.0178 | -3 | c.350 others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6328496 | CAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02004.hp2 others(25): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0141 others(25): Show |
28 | 221 | 0.1267 | -3 | c.93+ others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6331966 | ATTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02004.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 others(9): Show |
12 | 209 | 0.0574 | -3 | c.93+ others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6335146 | TATA | T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01884.hp2 HG02004.hp2 others(10): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0005a0001c0008t0001 | a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 others(10): Show |
13 | 394 | 0.0330 | -3 | c.-15 others(14): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1535 | chr19 | TogoVar | |||||||
ACER1_chr19_6301142_6338612 | 6337658 | TTTC | T | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02976.hp1 HG06807.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0301 a0001c0001t0001g0322 a0001c0004t0001g0379 others(4): Show |
7 | 394 | 0.0178 | -3 | c.-41 others(14): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 4047 | chr19 | TogoVar | |||||||
ACER2_chr9_19404009_19457505 | 19424513 | ATCT | A | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0002a0001c0003t0010a0003c0004t0004 | a0001c0001t0002g0291 a0001c0003t0010g0288 a0001c0003t0010g0289 others(3): Show |
6 | 356 | 0.0169 | -3 | c.224 others(18): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19428776 | GTTT | G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0088 a0001c0001t0002g0126 a0001c0001t0006g0083 others(10): Show |
13 | 154 | 0.0844 | -3 | c.365 others(20): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19433914 | ACCT | A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0014a0001c0003t0005 | a0001c0001t0002g0126 a0001c0001t0014g0307 a0001c0003t0005g0127 others(1): Show |
4 | 356 | 0.0112 | -3 | c.366 others(20): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19449890 | TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(59): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0013others(4): Show | a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0031 others(55): Show |
62 | 295 | 0.2102 | -3 | c.642 others(18): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ACER2_chr9_19404009_19457505 | 19456950 | TCAA | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0121 a0003c0004t0004g0122 a0003c0004t0004g0124 others(4): Show |
7 | 356 | 0.0197 | -3 | c.*63 others(14): Show |
ACER2 | ENSG00000177076.6 | transcript | ENST00000340967.3 | protein_coding | 4446 | chr9 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76862285 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00741.hp1 others(14): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0014a0001c0001t0017a0001c0001t0029others(6): Show | a0001c0001t0014g0199 a0001c0001t0014g0205 a0001c0001t0014g0206 others(14): Show |
17 | 132 | 0.1288 | -3 | c.103 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76882003 | CTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG03041.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0022a0001c0001t0037others(4): Show | a0001c0001t0003g0072 a0001c0001t0022g0079 a0001c0001t0037g0099 others(5): Show |
8 | 160 | 0.0500 | -3 | c.103 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76896426 | AGGC | A | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG01884.hp2 others(38): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0016a0001c0003t0026others(25): Show | a0001c0003t0011g0101 a0001c0003t0011g0103 a0001c0003t0011g0104 others(38): Show |
41 | 344 | 0.1192 | -3 | c.104 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76898903 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00642.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(28): Show | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0023 others(56): Show |
59 | 138 | 0.4275 | -3 | c.104 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76916619 | TAAA | T | intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0074a0001c0001t0089 | a0001c0001t0037g0099 a0001c0001t0037g0128 a0001c0001t0074g0129 others(1): Show |
4 | 344 | 0.0116 | -3 | c.104 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
ACER3_chr11_76855918_77031797 | 76933240 | CTTT | C | intron_variant | MODIFIER | HG01192.hp2 NA18612.hp2 NA18747.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 others(4): Show |
7 | 126 | 0.0556 | -3 | c.214 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76942763 | GTTC | G | intron_variant | MODIFIER | HG01192.hp2 NA18612.hp2 NA18747.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0173 others(4): Show |
7 | 344 | 0.0203 | -3 | c.214 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76943749 | ACCC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(191): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(78): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(191): Show |
194 | 272 | 0.7132 | -3 | c.215 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76943913 | CTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(30): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(83): Show |
86 | 200 | 0.4300 | -3 | c.215 others(22): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76950408 | TATA | T | intron_variant | MODIFIER | HG00544.hp1 HG01074.hp2 HG01109.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0144 others(30): Show |
33 | 344 | 0.0959 | -3 | c.215 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76963477 | GACA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(169): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(169): Show |
172 | 344 | 0.5000 | -3 | c.267 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76996398 | CATT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(19): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0011a0001c0003t0016a0001c0003t0137others(6): Show | a0001c0003t0011g0101 a0001c0003t0011g0103 a0001c0003t0011g0104 others(19): Show |
22 | 124 | 0.1774 | -3 | c.439 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77005036 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(205): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(83): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0140 others(205): Show |
208 | 321 | 0.6480 | -3 | c.497 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77005991 | ATTT | A | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02735.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0021a0002c0002t0045others(4): Show | a0002c0002t0001g0002 a0002c0002t0021g0006 a0002c0002t0021g0008 others(9): Show |
12 | 223 | 0.0538 | -3 | c.497 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77010163 | AAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0055a0002c0002t0020a0002c0002t0025others(10): Show | a0001c0001t0055g0141 a0002c0002t0020g0214 a0002c0002t0020g0215 others(25): Show |
28 | 113 | 0.2478 | -3 | c.498 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 77017940 | CTTT | C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0037a0001c0003t0026others(6): Show | a0001c0001t0002g0146 a0001c0001t0037g0128 a0001c0003t0026g0114 others(10): Show |
13 | 39 | 0.3333 | -3 | c.704 others(20): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACHE_chr7_100884994_100900888 | 100891518 | CCTT | C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 3 | 412 | 0.0073 | -3 | c.155 others(20): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
ACHE_chr7_100884994_100900888 | 100897302 | AAGC | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(127): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(13): Show |
130 | 412 | 0.3155 | -3 | c.-15 others(14): Show |
ACHE | ENSG00000087085.16 | transcript | ENST00000241069.11 | protein_coding | 1415 | chr7 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23076847 | CGAT | C | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02647.hp1 others(12): Show |
a0005a0012 | a0005c0005a0012c0029 | a0005c0005t0002a0005c0005t0007a0012c0029t0001 | a0005c0005t0002g0018 a0005c0005t0002g0019 a0005c0005t0002g0200 others(10): Show |
15 | 348 | 0.0431 | -3 | c.212 others(22): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 8/18 | chr14 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23077450 | GCTT | G | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG03041.hp1 others(2): Show |
a0003a0008 | a0003c0015a0008c0017 | a0003c0015t0001a0008c0017t0001 | a0003c0015t0001g0300 a0003c0015t0001g0301 a0003c0015t0001g0302 others(2): Show |
5 | 348 | 0.0144 | -3 | c.212 others(20): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 8/18 | chr14 | TogoVar | |||||||
ACIN1_chr14_23053564_23100136 | 23080669 | TTCC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(59): Show |
a0003a0006a0008others(2): Show | a0003c0004a0003c0010a0003c0013others(8): Show | a0003c0004t0001a0003c0010t0001a0003c0010t0003others(9): Show | a0003c0004t0001g0002 a0003c0004t0001g0006 a0003c0004t0001g0010 others(51): Show |
62 | 348 | 0.1782 | -3 | c.663 others(10): Show |
p.Glu others(6): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 689/4460 | 663/3852 | 221/1283 | chr14 | TogoVar | |||
ACIN1_chr14_23053564_23100136 | 23097168 | AAAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(126): Show |
a0001a0002a0009others(3): Show | a0001c0001a0001c0007a0001c0012others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0002others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(111): Show |
129 | 348 | 0.3707 | -3 | c.-20 others(14): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 2033 | chr14 | TogoVar | |||||||
ACKR2_chr3_42804445_42872286 | 42822813 | CAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01069.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0095 others(28): Show |
33 | 212 | 0.1557 | -3 | c.-38 others(20): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42822833 | AAAG | A | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 HG03041.hp2 others(4): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0009a0004c0005t0009 | a0002c0002t0009g0015 a0002c0002t0009g0094 a0002c0002t0009g0203 others(3): Show |
7 | 340 | 0.0206 | -3 | c.-38 others(20): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42828087 | TATA | T | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 |
3 | 340 | 0.0088 | -3 | c.-38 others(20): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
ACKR2_chr3_42804445_42872286 | 42842985 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp2 others(94): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0002t0004a0002c0002t0010others(7): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0023 others(90): Show |
97 | 318 | 0.3050 | -3 | c.-37 others(22): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41863190 | CTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(183): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(183): Show |
186 | 267 | 0.6966 | -3 | c.*46 others(14): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 3727 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41865833 | GTTT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(201): Show |
204 | 224 | 0.9107 | -3 | c.*19 others(14): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 1084 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41876078 | TGAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(35): Show |
a0002a0005 | a0002c0002a0005c0014 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(4): Show | a0002c0002t0002g0190 a0002c0002t0002g0252 a0002c0002t0003g0260 others(35): Show |
38 | 292 | 0.1301 | -3 | c.248 others(22): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 22/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41883582 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(120): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 others(120): Show |
123 | 141 | 0.8723 | -3 | c.215 others(20): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 19/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41889746 | CACG | C | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(66): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(8): Show | a0001c0001t0001g0048 a0001c0001t0001g0255 a0001c0001t0002g0009 others(66): Show |
69 | 292 | 0.2363 | -3 | c.177 others(22): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41903755 | CAAA | C | intron_variant | MODIFIER | HG01168.hp1 HG01256.hp2 HG01258.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0108 others(23): Show |
26 | 27 | 0.9630 | -3 | c.106 others(20): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 10/28 | chr17 | TogoVar |