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 | 100608749 | A | ACTT | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show |
10 | 311 | 0.0322 | 3 | c.478 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100616992 | C | CGTT | intron_variant | MODIFIER | HG03209.hp1 HG03225.hp1 NA18906.hp1 others(1): Show |
a0001a0018 | a0001c0001a0018c0017 | a0001c0001t0001a0001c0001t0002a0018c0017t0003 | a0001c0001t0001g0275 a0001c0001t0002g0095 a0001c0001t0002g0096 others(1): Show |
4 | 290 | 0.0138 | 3 | c.478 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 30/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100634864 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show |
a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show |
10 | 210 | 0.0476 | 3 | c.412 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 25/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100680810 | A | ACTC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(55): Show |
a0002a0004a0005others(3): Show | a0002c0003a0004c0008a0005c0009others(3): Show | a0002c0003t0002a0004c0008t0003a0005c0009t0001others(4): Show | a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0008 others(55): Show |
58 | 312 | 0.1859 | 3 | c.215 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 13/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100727649 | T | TAAC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0011others(5): Show | a0001c0001t0001a0001c0006t0005a0001c0011t0001others(5): Show | a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0240 others(45): Show |
48 | 271 | 0.1771 | 3 | c.173 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100747136 | C | CAAA | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(3): Show |
6 | 188 | 0.0319 | 3 | c.173 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100753314 | A | AAAC | intron_variant | MODIFIER | HG01175.hp1 HG02300.hp1 NA19077.hp1 |
a0001a0002a0004 | a0001c0002a0002c0003a0004c0008 | a0001c0002t0003a0002c0003t0002a0004c0008t0003 | a0001c0002t0003g0114 a0002c0003t0002g0061 a0004c0008t0003g0056 |
3 | 167 | 0.0180 | 3 | c.173 others(24): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100771786 | T | TGAG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(205): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 others(205): Show |
208 | 312 | 0.6667 | 3 | c.139 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 8/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100828092 | T | TAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(62): Show |
a0001a0002a0004others(6): Show | a0001c0002a0002c0003a0004c0008others(7): Show | a0001c0002t0001a0001c0002t0003a0002c0003t0002others(9): Show | a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 others(62): Show |
65 | 152 | 0.4276 | 3 | c.801 others(22): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100840488 | C | CTTT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(68): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(10): Show | a0001c0001t0001g0306 a0001c0001t0002g0081 a0001c0001t0002g0084 others(68): Show |
71 | 160 | 0.4438 | 3 | c.801 others(20): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 4/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100872468 | T | TGGG | intron_variant | MODIFIER | HG02055.hp1 NA18943.hp1 NA19068.hp1 |
a0001a0011 | a0001c0006a0011c0018 | a0001c0006t0005a0011c0018t0002 | a0001c0006t0005g0166 a0001c0006t0005g0167 a0011c0018t0002g0005 |
3 | 87 | 0.0345 | 3 | c.-41 others(20): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 1/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100874464 | C | CAAA | intron_variant | MODIFIER | HG00621.hp1 HG01358.hp2 HG02818.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0003a0004c0013others(2): Show | a0001c0001t0001a0002c0003t0002a0004c0013t0003others(2): Show | a0001c0001t0001g0306 a0002c0003t0002g0009 a0002c0003t0002g0064 others(7): Show |
10 | 120 | 0.0833 | 3 | c.-41 others(20): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 1/41 | chr6 | TogoVar | |||||||
ASCL1_chr12_102952674_102965513 | 102958393 | C | CGCA | conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(60): Show |
a0002a0010 | a0002c0002a0002c0005a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0001 others(9): Show |
63 | 281 | 0.2242 | 3 | c.184 others(10): Show |
p.Gln others(5): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 1/2 | 758/2481 | 187/711 | 63/236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ASCL1_chr12_102952674_102965513 | 102965267 | A | AGAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0002c0002others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(43): Show |
316 | 352 | 0.8977 | 3 | c.*59 others(14): Show |
ASCL1 | ENSG00000139352.4 | transcript | ENST00000266744.4 | protein_coding | 4755 | chr12 | TogoVar | |||||||
ASCL2_chr11_2263498_2275588 | 2268252 | T | TCCA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01081.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0007g0013 |
58 | 418 | 0.1388 | 3 | c.*89 others(12): Show |
ASCL2 | ENSG00000183734.5 | transcript | ENST00000331289.5 | protein_coding | 245 | chr11 | TogoVar | |||||||
ASCL3_chr11_8932578_8948016 | 8946900 | T | TTAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(172): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(24): Show |
175 | 438 | 0.3995 | 3 | c.-39 others(14): Show |
ASCL3 | ENSG00000176009.4 | transcript | ENST00000531618.2 | protein_coding | 3885 | chr11 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107772447 | C | CTTT | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG03098.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0000 a0001c0001t0005g0000 |
7 | 337 | 0.0208 | 3 | c.-27 others(14): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 2256 | chr12 | TogoVar | |||||||
ASCL4_chr12_107769704_107781644 | 107773043 | A | AAAT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(120): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0007g0000 others(3): Show |
123 | 277 | 0.4440 | 3 | c.-21 others(14): Show |
ASCL4 | ENSG00000187855.6 | transcript | ENST00000342331.5 | protein_coding | 1660 | chr12 | TogoVar | |||||||
ASCL5_chr1_201108943_201132184 | 201113774 | C | CAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(17): Show |
80 | 209 | 0.3828 | 3 | c.*97 others(12): Show |
ASCL5 | ENSG00000232237.5 | transcript | ENST00000449188.3 | protein_coding | 168 | chr1 | TogoVar | |||||||
ASF1A_chr6_118889152_118914171 | 118893847 | A | AAAC | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01069.hp1 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0014 | a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0019 others(8): Show |
56 | 398 | 0.1407 | 3 | c.-56 others(12): Show |
ASF1A | ENSG00000111875.8 | transcript | ENST00000229595.6 | protein_coding | 304 | chr6 | TogoVar | |||||||
ASF1B_chr19_14114512_14141589 | 14119253 | T | TTTC | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(75): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0002g0004 a0001c0002t0002g0030 a0001c0002t0002g0033 others(58): Show |
78 | 332 | 0.2349 | 3 | c.*12 others(14): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 258 | chr19 | TogoVar | |||||||
ASF1B_chr19_14114512_14141589 | 14133797 | A | ATTT | intron_variant | MODIFIER | HG01361.hp1 HG01978.hp1 HG02083.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0038 others(10): Show |
16 | 192 | 0.0833 | 3 | c.109 others(20): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ASF1B_chr19_14114512_14141589 | 14140293 | A | ACTT | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01257.hp1 HG01258.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0222 a0001c0001t0001g0223 others(20): Show |
27 | 332 | 0.0813 | 3 | c.-38 others(14): Show |
ASF1B | ENSG00000105011.9 | transcript | ENST00000263382.8 | protein_coding | 3705 | chr19 | TogoVar | |||||||
ASGR1_chr17_7168431_7184370 | 7180563 | A | AAAT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01106.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0090 a0001c0003t0001g0009 |
7 | 435 | 0.0161 | 3 | c.-14 others(14): Show |
ASGR1 | ENSG00000141505.12 | transcript | ENST00000269299.8 | protein_coding | 1194 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7104348 | T | TAAA | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG02055.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0015 | a0001c0001t0001a0001c0001t0002a0001c0010t0009others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0187 a0001c0001t0001g0198 others(9): Show |
14 | 104 | 0.1346 | 3 | c.649 others(20): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7116869 | A | ATTT | upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02074.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0199 a0001c0001t0005g0018 a0001c0001t0005g0265 others(4): Show |
9 | 164 | 0.0549 | 3 | c.-23 others(14): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 2048 | chr17 | TogoVar | |||||||
ASGR2_chr17_7096326_7119822 | 7118419 | A | ACTC | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01169.hp2 HG02647.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0008a0001c0002t0003others(1): Show | a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0146 others(4): Show |
7 | 430 | 0.0163 | 3 | c.-38 others(14): Show |
ASGR2 | ENSG00000161944.17 | transcript | ENST00000691900.1 | protein_coding | 3598 | chr17 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155348899 | A | ATAT | intron_variant | MODIFIER | HG01074.hp1 HG02897.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0014 | a0001c0001t0001g0142 a0001c0015t0014g0008 |
2 | 18 | 0.1111 | 3 | c.755 others(20): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 19/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155436491 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(41): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0073 others(41): Show |
44 | 143 | 0.3077 | 3 | c.582 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 5/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155443979 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02451.hp1 others(2): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0004a0005c0005t0002 | a0004c0004t0004g0005 a0004c0004t0004g0006 a0004c0004t0004g0007 others(2): Show |
5 | 146 | 0.0342 | 3 | c.508 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155448345 | T | TTTG | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp1 others(5): Show |
a0003a0004a0009 | a0003c0003a0004c0004a0009c0013 | a0003c0003t0003a0004c0004t0004a0009c0013t0002 | a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 others(5): Show |
8 | 180 | 0.0444 | 3 | c.508 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155473492 | A | ATTT | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0012 | a0001c0001t0001a0001c0001t0005a0003c0003t0003others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0107 others(8): Show |
11 | 161 | 0.0683 | 3 | c.498 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 3/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155532965 | G | GAGA | intron_variant | MODIFIER | HG03239.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0170 a0001c0001t0012g0003 |
2 | 14 | 0.1429 | 3 | c.-99 others(22): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155545175 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG01071.hp2 HG01261.hp2 others(23): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(23): Show |
26 | 64 | 0.4063 | 3 | c.-10 others(24): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 1/27 | chr1 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38100924 | C | CTTT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(10): Show |
14 | 225 | 0.0622 | 3 | c.-46 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 4604 | chr8 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38101626 | C | CAAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01952.hp2 NA18949.hp1 others(4): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0280 others(4): Show |
7 | 238 | 0.0294 | 3 | c.-39 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3902 | chr8 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38142232 | C | CTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00597.hp1 others(32): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(23): Show |
35 | 299 | 0.1171 | 3 | c.*31 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 2153 | chr8 | TogoVar | |||||||
ASH2L_chr8_38100529_38145080 | 38143305 | A | ATTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00544.hp2 others(56): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(1): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(45): Show |
59 | 79 | 0.7468 | 3 | c.*42 others(14): Show |
ASH2L | ENSG00000129691.16 | transcript | ENST00000343823.11 | protein_coding | 3226 | chr8 | TogoVar | |||||||
ASIC1_chr12_50052596_50088611 | 50079427 | A | AATC | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02486.hp2 others(11): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0003t0004a0001c0007t0001 | a0001c0003t0001g0028 a0001c0003t0001g0060 a0001c0003t0001g0067 others(10): Show |
14 | 322 | 0.0435 | 3 | c.105 others(20): Show |
ASIC1 | ENSG00000110881.12 | transcript | ENST00000447966.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASIC2_chr17_33008087_33298295 | 33032440 | G | GTTT | intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG02055.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(6): Show | a0001c0001t0003g0076 a0001c0001t0009g0072 a0001c0001t0020g0023 others(6): Show |
9 | 67 | 0.1343 | 3 | c.988 others(20): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33037130 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 others(76): Show |
80 | 145 | 0.5517 | 3 | c.988 others(20): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33038888 | C | CCTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00597.hp1 others(131): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(35): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0020 others(130): Show |
134 | 238 | 0.5630 | 3 | c.988 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33126856 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0003g0037 a0001c0001t0003g0045 a0001c0001t0003g0046 others(69): Show |
72 | 97 | 0.7423 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33150849 | C | CAAA | intron_variant | MODIFIER | HG01346.hp1 HG02622.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0019a0001c0002t0002others(2): Show | a0001c0001t0004g0078 a0001c0001t0019g0224 a0001c0002t0002g0098 others(2): Show |
5 | 125 | 0.0400 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33151460 | C | CTTG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(154): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0022 others(154): Show |
157 | 238 | 0.6597 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33164447 | T | TGTG | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(78): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0020 others(77): Show |
81 | 238 | 0.3403 | 3 | c.709 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33214681 | T | TAAC | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00423.hp2 others(153): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(40): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(152): Show |
156 | 238 | 0.6555 | 3 | c.708 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33255028 | C | CTTT | intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01517.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0003g0046 a0001c0001t0004g0010 a0001c0001t0007g0228 others(17): Show |
20 | 138 | 0.1449 | 3 | c.708 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC2_chr17_33008087_33298295 | 33278199 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01175.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0003g0037 a0001c0001t0003g0046 a0001c0001t0003g0052 others(29): Show |
32 | 207 | 0.1546 | 3 | c.708 others(22): Show |
ASIC2 | ENSG00000108684.15 | transcript | ENST00000225823.7 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
ASIC4_chr2_219509482_219543772 | 219518517 | C | CTCT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(7): Show | a0001c0001t0001a0001c0002t0001a0002c0006t0001others(8): Show | a0001c0001t0001g0153 a0001c0001t0001g0237 a0001c0002t0001g0178 others(17): Show |
25 | 370 | 0.0676 | 3 | c.582 others(20): Show |
ASIC4 | ENSG00000072182.14 | transcript | ENST00000358078.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |