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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM17_chr2_9483486_9560830 | 9514518 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0085 | 1 | 9 | 0.1111 | -38 | c.119 others(57): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 10/18 | chr2 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100313795 | CCCCAAAC others(31): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0001 | a0002c0001t0012 | a0002c0001t0012g0079 | 1 | 226 | 0.0044 | -38 | c.616 others(57): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100313833 | TCCCAAAC others(31): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(36): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0005a0001c0007others(19): Show | a0001c0002t0012a0001c0005t0012a0001c0007t0010others(28): Show | a0001c0002t0012g0106 a0001c0005t0012g0211 a0001c0007t0010g0011 others(36): Show |
39 | 213 | 0.1831 | -38 | c.616 others(57): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129550024 | ATATCTAG others(31): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02451.hp1 HG03098.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0002a0001c0006t0001a0002c0002t0003 | a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 others(3): Show |
6 | 87 | 0.0690 | -38 | c.132 others(57): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179217840 | AGGCACAC others(31): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01243.hp1 others(36): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0014others(22): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0002others(26): Show | a0001c0001t0001g0065 a0001c0001t0004g0111 a0001c0004t0002g0005 others(36): Show |
39 | 269 | 0.1450 | -38 | c.689 others(57): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72545689 | ATCTCTTC others(31): Show |
A | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 180 | 0.0056 | -38 | c.504 others(55): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83801637 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0013 | a0013c0035 | a0013c0035t0001 | a0013c0035t0001g0175 | 1 | 202 | 0.0050 | -38 | c.318 others(55): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1560432 | CGCACCCT others(31): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 96 | 0.0104 | -38 | c.100 others(59): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1602659 | TACACATC others(31): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02080.hp2 others(23): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(22): Show | a0001c0001t0001g0069 a0001c0001t0003g0098 a0001c0001t0009g0055 others(23): Show |
26 | 106 | 0.2453 | -38 | c.100 others(59): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADCY8_chr8_130775301_131045909 | 131019805 | CTCTCTCT others(31): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0003 | 1 | 244 | 0.0041 | -38 | c.960 others(57): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | |||||||
ADGRA3_chr4_22382376_22521066 | 22390330 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01070.hp2 HG01071.hp1 others(13): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0001 a0002c0003t0001g0085 a0002c0003t0001g0086 others(12): Show |
16 | 288 | 0.0556 | -38 | c.262 others(57): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 17/18 | chr4 | TogoVar | |||||||
ADGRB3_chr6_68630282_69394506 | 68817307 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0001g0107 others(6): Show |
9 | 62 | 0.1452 | -38 | c.758 others(59): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131032672 | GTCACAGA others(31): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0005a0001c0010others(3): Show | a0001c0003t0004a0001c0005t0001a0001c0010t0007others(3): Show | a0001c0003t0004g0234 a0001c0005t0001g0112 a0001c0005t0001g0127 others(7): Show |
10 | 240 | 0.0417 | -38 | c.147 others(59): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131032710 | ATCACAGA others(31): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
a0001a0002a0003 | a0001c0003a0002c0012a0002c0041others(2): Show | a0001c0003t0001a0001c0003t0013a0001c0003t0018others(4): Show | a0001c0003t0001g0153 a0001c0003t0013g0129 a0001c0003t0018g0117 others(6): Show |
9 | 217 | 0.0415 | -38 | c.147 others(59): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131032719 | ATGACGTT others(31): Show |
A | intron_variant | MODIFIER | HG02071.hp2 NA18974.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0005 | a0001c0002t0003g0064 a0001c0004t0005g0094 |
2 | 152 | 0.0132 | -38 | c.147 others(59): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131032725 | TTTATTAG others(31): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp2 others(11): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(6): Show | a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0208 others(11): Show |
14 | 140 | 0.1000 | -38 | c.147 others(59): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRD1_chr12_130948907_131146469 | 131036714 | CGCACCGG others(31): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 240 | 0.0042 | -38 | c.147 others(59): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61432570 | CTTCCTTT others(31): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0026 | a0001c0001t0001g0051 a0001c0002t0026g0027 |
2 | 40 | 0.0500 | -38 | c.-17 others(59): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90797015 | ACATACCA others(31): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0068 | a0068c0075 | a0068c0075t0001 | a0068c0075t0001g0056 | 1 | 156 | 0.0064 | -38 | c.145 others(59): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 70/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7840267 | TGTGTGTG others(31): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0020 | 1 | 200 | 0.0050 | -38 | c.547 others(55): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 87022566 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp1 HG00741.hp2 others(25): Show |
a0001a0003a0013 | a0001c0001a0001c0011a0003c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0201 a0001c0001t0002g0246 a0001c0001t0003g0029 others(25): Show |
28 | 289 | 0.0969 | -38 | c.39- others(55): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AGA_chr4_177425774_177447437 | 177432477 | TAATTTTT others(31): Show |
T | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 440 | 0.0023 | -38 | c.940 others(53): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 49237512 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0093 | 1 | 3 | 0.3333 | -38 | c.377 others(55): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15198236 | AGAGAGAG others(31): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01975.hp2 HG02273.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0082 a0001c0001t0001g0165 a0001c0001t0001g0166 others(4): Show |
7 | 234 | 0.0299 | -38 | c.*30 others(49): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2080 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354464 | GTGTGTAT others(31): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 224 | 0.0045 | -38 | c.126 others(59): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15531000 | ATATATTC others(31): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00741.hp2 HG02165.hp1 others(18): Show |
a0001a0015a0016 | a0001c0001a0001c0005a0015c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0053 others(18): Show |
21 | 73 | 0.2877 | -38 | c.409 others(57): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO2_chr8_140515156_140640633 | 140607451 | AGAAAAAT others(31): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0281 | 1 | 285 | 0.0035 | -38 | c.23- others(55): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | |||||||
AGPAT2_chr9_136668143_136692457 | 136678770 | TCCCCTTG others(31): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01074.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0049 a0001c0001t0002g0187 a0001c0001t0003g0198 others(19): Show |
30 | 372 | 0.0806 | -38 | c.183 others(55): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177467081 | CACTGCAG others(31): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0013a0001c0001t0043others(1): Show | a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 others(3): Show |
6 | 256 | 0.0234 | -38 | c.997 others(55): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 9/19 | chr2 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1030889 | ATGTGTGT others(31): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(132): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0004a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(125): Show |
135 | 208 | 0.6490 | -38 | c.464 others(55): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11751724 | CAGGGAGT others(31): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 418 | 0.0024 | -38 | c.*15 others(49): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 956 | chr1 | TogoVar | |||||||
AGTRAP_chr1_11731136_11755769 | 11751791 | TATTCATT others(31): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0037 others(17): Show |
41 | 418 | 0.0981 | -38 | c.*16 others(49): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 1023 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246845198 | AAAAAATG others(31): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG02056.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(2): Show |
5 | 374 | 0.0134 | -38 | c.639 others(57): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 33/35 | chr1 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 394274 | ACCCTCTT others(31): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01256.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0063others(2): Show | a0001c0001t0001g0018 a0001c0001t0003g0174 a0001c0001t0063g0173 others(3): Show |
6 | 175 | 0.0343 | -38 | c.351 others(57): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 397048 | TTAGCCCC others(31): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01928.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0002 a0003c0004t0004g0004 |
3 | 261 | 0.0115 | -38 | c.352 others(57): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 398145 | CCCTGACC others(31): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 266 | 0.0038 | -38 | c.352 others(57): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAGAGA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02132.hp1 HG02523.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(4): Show | a0001c0001t0005a0001c0001t0011a0001c0002t0003others(9): Show | a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0055 others(21): Show |
28 | 82 | 0.3415 | -38 | c.-41 others(47): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44295836 | AGGGCTGC others(31): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0047 a0001c0001t0001g0156 a0001c0014t0001g0213 |
4 | 424 | 0.0094 | -38 | c.150 others(55): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475398 | AATATATA others(31): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0025 | a0001c0001t0001g0121 a0002c0002t0025g0277 |
2 | 149 | 0.0134 | -38 | c.106 others(57): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132842449 | GCAGAATG others(31): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 | 1 | 264 | 0.0038 | -38 | c.402 others(57): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | |||||||
AKAP6_chr14_32324298_32842684 | 32510404 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(28): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0006a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(21): Show | a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0134 others(28): Show |
31 | 145 | 0.2138 | -38 | c.325 others(57): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113401128 | CAGGACTC others(31): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0062 | 1 | 444 | 0.0023 | -38 | c.-76 others(51): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49463127 | GGGGTCCA others(31): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(11): Show |
a0002a0011 | a0002c0003a0011c0017 | a0002c0003t0002a0002c0003t0003a0011c0017t0003 | a0002c0003t0002g0054 a0002c0003t0003g0003 a0002c0003t0003g0051 others(3): Show |
14 | 340 | 0.0412 | -38 | c.109 others(55): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126142134 | AAACTCAC others(31): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(112): Show |
a0002a0005a0006others(12): Show | a0002c0002a0002c0013a0005c0005others(18): Show | a0002c0002t0001a0002c0013t0001a0005c0005t0001others(18): Show | a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0013 others(101): Show |
115 | 336 | 0.3423 | -38 | c.107 others(57): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 9/22 | chr3 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49922256 | TAGTCAGG others(31): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0006a0001c0002t0024others(8): Show | a0001c0001t0001g0012 a0001c0002t0006g0034 a0001c0002t0006g0111 others(18): Show |
37 | 346 | 0.1069 | -38 | c.-41 others(49): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 3819 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49922287 | CCCTCAGC others(31): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01361.hp2 HG01884.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0006a0001c0002t0008a0001c0002t0025others(12): Show | a0001c0002t0006g0033 a0001c0002t0008g0009 a0001c0002t0008g0077 others(24): Show |
36 | 346 | 0.1040 | -38 | c.-41 others(49): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 3850 | chr22 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107960 | AGGAAGGA others(31): Show |
A | intron_variant | MODIFIER | HG02148.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0139 a0001c0001t0006g0357 |
2 | 409 | 0.0049 | -38 | c.168 others(55): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109511253 | AAAAAAGA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00741.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 others(1): Show |
28 | 391 | 0.0716 | -38 | c.-19 others(49): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1527 | chr1 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31731859 | TTTACTTG others(31): Show |
T | upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0353 | 1 | 430 | 0.0023 | -38 | c.-28 others(49): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 2839 | chr12 | TogoVar | |||||||
AMPD3_chr11_10450264_10512579 | 10511563 | TGGCCCAG others(31): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 388 | 0.0026 | -38 | c.*56 others(49): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 3985 | chr11 | TogoVar |