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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100568752 | AATTATT | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(68): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0019others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 others(68): Show |
71 | 161 | 0.4410 | -6 | c.555 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100577742 | CCACACA | C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(3): Show |
6 | 303 | 0.0198 | -6 | c.555 others(27): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 36/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100600205 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(63): Show |
a0002a0004a0005others(3): Show | a0002c0003a0004c0008a0005c0009others(3): Show | a0002c0003t0002a0002c0003t0018a0004c0008t0003others(6): Show | a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 others(63): Show |
66 | 162 | 0.4074 | -6 | c.530 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 34/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100608391 | TGTATAC | T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01074.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0002a0002c0003t0018others(3): Show | a0001c0001t0001g0244 a0001c0001t0001g0272 a0002c0003t0002g0027 others(34): Show |
37 | 312 | 0.1186 | -6 | c.478 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100616992 | CGTTGTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG01081.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0171 a0003c0004t0004g0172 a0003c0004t0004g0173 others(19): Show |
22 | 308 | 0.0714 | -6 | c.478 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100676762 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(162): Show |
a0001a0002a0003others(13): Show | a0001c0002a0001c0019a0001c0020others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(27): Show | a0001c0002t0001g0290 a0001c0002t0002g0082 a0001c0002t0002g0083 others(162): Show |
165 | 277 | 0.5957 | -6 | c.228 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 14/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100687034 | TCACACA | T | intron_variant | MODIFIER | HG01952.hp2 HG02965.hp1 HG03139.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0284 a0003c0005t0002g0154 a0003c0005t0002g0155 others(1): Show |
4 | 101 | 0.0396 | -6 | c.215 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100723860 | TTATATA | T | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp1 HG02630.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0212 a0001c0002t0002g0135 a0001c0002t0003g0103 others(7): Show |
10 | 62 | 0.1613 | -6 | c.190 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 11/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100771866 | GTTTTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp1 others(69): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0002a0001c0019others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(10): Show | a0001c0001t0001g0232 a0001c0001t0001g0243 a0001c0001t0001g0250 others(69): Show |
72 | 149 | 0.4832 | -6 | c.139 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100818748 | CAAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02559.hp2 others(8): Show |
a0003a0005a0013others(2): Show | a0003c0004a0003c0005a0005c0009others(3): Show | a0003c0004t0001a0003c0005t0001a0005c0009t0004others(3): Show | a0003c0004t0001g0209 a0003c0004t0001g0211 a0003c0004t0001g0286 others(8): Show |
11 | 141 | 0.0780 | -6 | c.802 others(25): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102962434 | TTCTTTC | T | downstream_gene_variant | MODIFIER | NA18954.hp2 NA18982.hp1 NA18985.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0001 a0002c0002t0003g0001 |
3 | 348 | 0.0086 | -6 | c.*31 others(17): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1922 | chr12 | TogoVar | |||||||
ASCL3_chr11_8932578_8948016 | 8938519 | GATTACA | G | intron_variant | MODIFIER | HG00741.hp1 HG01346.hp2 HG01891.hp2 others(28): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0036 a0002c0002t0001g0037 |
31 | 438 | 0.0708 | -6 | c.-12 others(21): Show |
ASCL3 | ENSG00000176009.4 | transcript | ENST00000531618.2 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107773043 | AAATAAT | A | upstream_gene_variant | MODIFIER | HG02040.hp2 HG02723.hp1 NA18522.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 |
13 | 167 | 0.0778 | -6 | c.-21 others(17): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 1660 | chr12 | TogoVar | |||||||
ASCL5_chr1_201108943_201132184 | 201128790 | TCCCCGA | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00673.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0074 others(11): Show |
53 | 416 | 0.1274 | -6 | c.-22 others(17): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 1607 | chr1 | TogoVar | |||||||
ASDURF_chr2_189656459_189671401 | 189665596 | GTGTATA | G | intron_variant | MODIFIER | HG00558.hp2 HG02135.hp2 HG02165.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(3): Show |
17 | 100 | 0.1700 | -6 | c.220 others(21): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASDURF_chr2_189656459_189671401 | 189665598 | GTATATA | G | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0003g0004 a0001c0001t0005g0059 |
8 | 282 | 0.0284 | -6 | c.220 others(21): Show |
ASDURF | ENSG00000286053.2 | transcript | ENST00000607829.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASF1B_chr19_14114512_14141589 | 14129678 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01257.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0185 others(5): Show |
8 | 30 | 0.2667 | -6 | c.110 others(23): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ASF1B_chr19_14114512_14141589 | 14129708 | AAAGAAG | A | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0043 |
6 | 317 | 0.0189 | -6 | c.110 others(23): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ASGR1_chr17_7168431_7184370 | 7176050 | ACAGACT | A | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0099 |
3 | 440 | 0.0068 | -6 | c.355 others(21): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
ASGR1_chr17_7168431_7184370 | 7176792 | TCACACA | T | intron_variant | MODIFIER | HG00609.hp2 HG02647.hp1 HG03540.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0100 a0001c0001t0002g0099 a0001c0001t0006g0026 others(3): Show |
13 | 310 | 0.0419 | -6 | c.355 others(19): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7113704 | ACACTCT | A | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01081.hp2 others(51): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(7): Show | a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0048 others(36): Show |
54 | 430 | 0.1256 | -6 | c.124 others(21): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155345828 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG01975.hp2 HG02451.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0006a0004c0004t0004 | a0001c0001t0006g0081 a0001c0001t0006g0082 a0004c0004t0004g0005 others(2): Show |
5 | 175 | 0.0286 | -6 | c.789 others(23): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 21/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155365372 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(57): Show |
a0001a0006a0007 | a0001c0001a0001c0009a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0049 others(57): Show |
60 | 148 | 0.4054 | -6 | c.668 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 12/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411582 | AATAAAT | A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0007 | a0001c0001t0001g0102 a0006c0007t0007g0130 |
2 | 128 | 0.0156 | -6 | c.600 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155411586 | AATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG02109.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0011a0003c0003t0003 | a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0126 others(3): Show |
6 | 28 | 0.2143 | -6 | c.600 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 6/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155514545 | TTTTATA | T | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0008a0003c0003others(4): Show | a0001c0001t0005a0001c0008t0002a0003c0003t0003others(4): Show | a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 others(12): Show |
15 | 180 | 0.0833 | -6 | c.420 others(23): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 2/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155556401 | CGTGTGT | C | intron_variant | MODIFIER | HG03688.hp2 HG03942.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 |
3 | 49 | 0.0612 | -6 | c.-10 others(25): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38120618 | TCCCCCC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(58): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(45): Show |
61 | 145 | 0.4207 | -6 | c.948 others(21): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASH2L_chr8_38100529_38145080 | 38121333 | TTATATA | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(59): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(56): Show |
62 | 122 | 0.5082 | -6 | c.116 others(23): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASIC1_chr12_50052596_50088611 | 50074860 | CTGTGTG | C | intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG01109.hp1 others(22): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 others(12): Show |
25 | 50 | 0.5000 | -6 | c.559 others(23): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33087575 | GTTTTTT | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02258.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0006a0001c0002t0002a0001c0006t0012others(1): Show | a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0002t0002g0100 others(2): Show |
5 | 92 | 0.0543 | -6 | c.987 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33164576 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0020 others(55): Show |
59 | 128 | 0.4609 | -6 | c.709 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33233514 | TCACACA | T | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0002t0005others(1): Show | a0001c0001t0007g0225 a0001c0001t0011g0003 a0001c0001t0011g0004 others(2): Show |
5 | 28 | 0.1786 | -6 | c.708 others(25): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33288715 | GACACAC | G | intron_variant | MODIFIER | HG01192.hp2 HG01346.hp1 HG01884.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0007a0001c0001t0011a0001c0001t0019others(8): Show | a0001c0001t0007g0225 a0001c0001t0011g0002 a0001c0001t0011g0003 others(14): Show |
17 | 56 | 0.3036 | -6 | c.708 others(23): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC3_chr7_151043531_151057754 | 151050846 | CCCCCAG | C | disruptive_inframe_deletion | MODERATE | HG00438.hp1 NA18948.hp2 NA18953.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 7 | 416 | 0.0168 | -6 | c.918 others(13): Show |
p.Ser others(13): Show |
ASIC3 | ENSG00000213199.8 | transcript | ENST00000349064.10 | protein_coding | 4/11 | 1273/2053 | 918/1596 | 306/531 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ASIC5_chr4_155824729_155871277 | 155825297 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00609.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show |
40 | 92 | 0.4348 | -6 | c.*45 others(17): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 4431 | chr4 | TogoVar | |||||||
ASIC5_chr4_155824729_155871277 | 155839348 | TACACAC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00642.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0086 others(22): Show |
53 | 61 | 0.8689 | -6 | c.101 others(23): Show |
ASIC5 | ENSG00000256394.3 | transcript | ENST00000537611.3 | protein_coding | 6/9 | chr4 | TogoVar | |||||||
ASIP_chr20_34236423_34274344 | 34257060 | CTTTCTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp2 HG01517.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0197 a0001c0001t0002g0198 others(1): Show |
5 | 304 | 0.0164 | -6 | c.-10 others(23): Show |
ASIP | ENSG00000101440.10 | transcript | ENST00000374954.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ASL_chr7_66070819_66098576 | 66087243 | CGTGTGT | C | intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG02257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103 a0001c0001t0002g0029 a0001c0001t0002g0118 others(3): Show |
7 | 69 | 0.1014 | -6 | c.603 others(19): Show |
ASL | ENSG00000126522.17 | transcript | ENST00000304874.14 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1400363 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02922.hp1 HG03195.hp1 others(1): Show |
a0002a0005a0007 | a0002c0013a0005c0024a0007c0016 | a0002c0013t0001a0005c0024t0001a0007c0016t0001 | a0002c0013t0001g0180 a0005c0024t0001g0178 a0007c0016t0001g0170 others(1): Show |
4 | 30 | 0.1333 | -6 | c.*29 others(17): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 2775 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1416940 | TCAGACA | T | intron_variant | MODIFIER | NA18950.hp1 NA18984.hp1 NA19012.hp1 |
a0003 | a0003c0002a0003c0006 | a0003c0002t0001a0003c0006t0001 | a0003c0002t0001g0146 a0003c0006t0001g0069 a0003c0006t0001g0136 |
3 | 183 | 0.0164 | -6 | c.152 others(25): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1417721 | GACACAC | G | intron_variant | MODIFIER | HG01070.hp1 HG02135.hp1 HG02572.hp2 |
a0001a0003 | a0001c0001a0001c0035a0003c0002 | a0001c0001t0001a0001c0035t0001a0003c0002t0003 | a0001c0001t0001g0124 a0001c0035t0001g0101 a0003c0002t0003g0100 |
3 | 19 | 0.1579 | -6 | c.152 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 11/12 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1419911 | TCTCTGA | T | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG02280.hp2 others(6): Show |
a0001a0002 | a0001c0010a0001c0037a0002c0003others(4): Show | a0001c0010t0001a0001c0037t0001a0002c0003t0001others(4): Show | a0001c0010t0001g0015 a0001c0010t0001g0177 a0001c0010t0001g0181 others(6): Show |
9 | 183 | 0.0492 | -6 | c.124 others(23): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
ASMT_chrX_1610059_1648081 | 1619549 | TATAATA | T | intron_variant | MODIFIER | HG00735.hp1 NA18986.hp2 NA18992.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0077 a0001c0003t0001g0091 a0001c0003t0001g0092 |
3 | 85 | 0.0353 | -6 | c.70- others(21): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1644219 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0012 a0001c0001t0001g0203 a0001c0001t0001g0212 others(5): Show |
8 | 44 | 0.1818 | -6 | c.*12 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1139 | chrX | TogoVar | |||||||
ASNSD1_chr2_189656459_189675831 | 189665596 | GTGTATA | G | intron_variant | MODIFIER | HG00558.hp2 HG02135.hp2 HG02165.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0002g0080 others(3): Show |
17 | 98 | 0.1735 | -6 | c.-93 others(21): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASNSD1_chr2_189656459_189675831 | 189665598 | GTATATA | G | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG02895.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0003g0003 a0001c0002t0003g0003 others(1): Show |
8 | 284 | 0.0282 | -6 | c.-93 others(21): Show |
ASNSD1 | ENSG00000138381.10 | transcript | ENST00000260952.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASNS_chr7_97846677_97877408 | 97859073 | TGCCAAA | T | intron_variant | MODIFIER | HG02280.hp2 HG03927.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 |
3 | 434 | 0.0069 | -6 | c.674 others(21): Show |
ASNS | ENSG00000070669.17 | transcript | ENST00000394308.8 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
ASPA_chr17_3470997_3508405 | 3499447 | CTGTACT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(425): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(367): Show |
428 | 448 | 0.9554 | -6 | c.*36 others(15): Show |
ASPA | ENSG00000108381.11 | transcript | ENST00000263080.3 | protein_coding | 6/6 | 367 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ASPDH_chr19_50506603_50518913 | 50508698 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01433.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(3): Show |
11 | 102 | 0.1078 | -6 | c.*30 others(17): Show |
ASPDH | ENSG00000204653.10 | transcript | ENST00000389208.9 | protein_coding | 2904 | chr19 | TogoVar |