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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADORA2B_chr17_15940130_15980746 | 15976099 | ATATATAT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0035 a0001c0003t0006g0293 |
2 | 325 | 0.0062 | -13 | c.*75 others(22): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 354 | chr17 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976134 | TATATATA others(6): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0201 a0001c0001t0004g0026 |
2 | 343 | 0.0058 | -13 | c.*79 others(22): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 389 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113395803 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01358.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0042others(12): Show | a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0136 others(19): Show |
22 | 71 | 0.3099 | -13 | c.*75 others(24): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3807 | chr13 | TogoVar | |||||||
ADPRS_chr1_36083892_36098932 | 36096087 | ACGAGATC others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -13 | c.*27 others(24): Show |
ADPRS | ENSG00000116863.11 | transcript | ENST00000373178.5 | protein_coding | 2156 | chr1 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159911590 | GGCAGTTC others(6): Show |
G | upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 382 | 0.0026 | -13 | c.-53 others(24): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 4891 | chr5 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159957945 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 379 | 0.0026 | -13 | c.950 others(32): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADSS2_chr1_244403494_244456909 | 244432660 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 140 | 0.0071 | -13 | c.356 others(26): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
ADTRP_chr6_11708523_11783803 | 11715806 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02074.hp2 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0130 a0001c0001t0001g0132 others(5): Show |
8 | 36 | 0.2222 | -13 | c.659 others(30): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ADTRP_chr6_11708523_11783803 | 11723188 | CCTTGGCA others(6): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0201 | 1 | 408 | 0.0025 | -13 | c.658 others(28): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
AEBP2_chr12_19434492_19527227 | 19479717 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0235 a0001c0001t0015g0237 |
2 | 50 | 0.0400 | -13 | c.987 others(30): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19489331 | GCAGGGGA others(6): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0297 | 1 | 402 | 0.0025 | -13 | c.988 others(30): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19524042 | CTCCCTCC others(6): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02818.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0235 a0001c0001t0015g0236 a0001c0001t0015g0237 |
3 | 402 | 0.0075 | -13 | c.*59 others(24): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 1816 | chr12 | TogoVar | |||||||
AEN_chr15_88616340_88637281 | 88630349 | GCCAGGAG others(6): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG02559.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 a0001c0001t0013g0039 a0001c0001t0013g0040 |
5 | 438 | 0.0114 | -13 | c.*56 others(20): Show |
AEN | ENSG00000181026.15 | transcript | ENST00000332810.4 | protein_coding | 4/4 | 56 | chr15 | TogoVar | ||||||
AEN_chr15_88616340_88637281 | 88633966 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0002 | 1 | 71 | 0.0141 | -13 | c.*36 others(24): Show |
AEN | ENSG00000181026.15 | transcript | ENST00000332810.4 | protein_coding | 1686 | chr15 | TogoVar | |||||||
AFAP1L1_chr5_149266859_149348637 | 149346715 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02451.hp2 NA19002.hp2 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0004a0008c0009t0017 | a0001c0001t0004g0104 a0001c0001t0004g0277 a0008c0009t0017g0155 |
3 | 59 | 0.0508 | -13 | c.*66 others(24): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 3079 | chr5 | TogoVar | |||||||
AFAP1L2_chr10_114289824_114409502 | 114392696 | CATTTGGG others(6): Show |
C | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 260 | 0.0038 | -13 | c.16+ others(30): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7795405 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01192.hp1 others(2): Show |
a0003 | a0003c0006a0003c0013 | a0003c0006t0005a0003c0006t0019a0003c0013t0005 | a0003c0006t0005g0239 a0003c0006t0019g0134 a0003c0006t0019g0150 others(2): Show |
5 | 24 | 0.2083 | -13 | c.126 others(32): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7874530 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0020 | a0001c0020t0026 | a0001c0020t0026g0209 | 1 | 33 | 0.0303 | -13 | c.-2- others(28): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167860159 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0007a0001c0009a0002c0016others(1): Show | a0001c0007t0005a0001c0009t0001a0002c0016t0005others(1): Show | a0001c0007t0005g0270 a0001c0009t0001g0102 a0001c0009t0001g0104 others(3): Show |
6 | 119 | 0.0504 | -13 | c.106 others(30): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167904532 | TACTTGAC others(6): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0210 | 1 | 324 | 0.0031 | -13 | c.165 others(32): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 12/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167945461 | TAAAATAT others(6): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0045 | 1 | 324 | 0.0031 | -13 | c.335 others(32): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 26/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 86998098 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0005a0002c0008t0021 | a0001c0002t0005g0185 a0002c0008t0021g0018 |
2 | 15 | 0.1333 | -13 | c.39- others(30): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87013032 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG02015.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0273 a0001c0001t0010g0272 a0001c0001t0010g0274 |
3 | 12 | 0.2500 | -13 | c.39- others(30): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87060835 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp1 others(32): Show |
a0001a0008 | a0001c0001a0008c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(3): Show | a0001c0001t0001g0143 a0001c0001t0002g0013 a0001c0001t0002g0020 others(32): Show |
35 | 201 | 0.1741 | -13 | c.105 others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87073280 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 HG02015.hp2 others(11): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0008others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0005t0040others(4): Show | a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0029 others(11): Show |
14 | 28 | 0.5000 | -13 | c.106 others(34): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87084589 | TAAATAAA others(6): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 | 1 | 274 | 0.0036 | -13 | c.110 others(30): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148551482 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG01109.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0020 | a0001c0001t0005g0126 a0001c0005t0020g0131 |
2 | 95 | 0.0211 | -13 | c.47+ others(30): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148772508 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0058 | 1 | 167 | 0.0060 | -13 | c.104 others(34): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99966689 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0031 | a0001c0001t0004g0050 a0001c0001t0031g0049 |
2 | 28 | 0.0714 | -13 | c.873 others(32): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | |||||||
AFG3L2_chr18_12323944_12382227 | 12339236 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02895.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 others(1): Show |
4 | 71 | 0.0563 | -13 | c.198 others(30): Show |
AFG3L2 | ENSG00000141385.12 | transcript | ENST00000269143.8 | protein_coding | 15/16 | chr18 | TogoVar | |||||||
AFMID_chr17_78182362_78212702 | 78203055 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0098 a0001c0001t0001g0239 a0001c0001t0005g0240 others(1): Show |
4 | 161 | 0.0248 | -13 | c.308 others(28): Show |
AFMID | ENSG00000183077.16 | transcript | ENST00000409257.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AFP_chr4_73431221_73461174 | 73461116 | TTTCTTCT others(6): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01361.hp2 HG02257.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0030 others(9): Show |
20 | 385 | 0.0519 | -13 | c.*54 others(24): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 4943 | chr4 | TogoVar | |||||||
AFTPH_chr2_64519328_64598005 | 64577042 | AGCCACCG others(6): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00673.hp2 others(26): Show |
a0002a0008 | a0002c0002a0008c0017 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(1): Show | a0002c0002t0002g0292 a0002c0002t0002g0297 a0002c0002t0002g0302 others(26): Show |
29 | 370 | 0.0784 | -13 | c.239 others(32): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235541376 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01358.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0002 a0001c0001t0002g0070 a0001c0001t0003g0034 others(24): Show |
27 | 63 | 0.4286 | -13 | c.163 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235572975 | TTTTCTTC others(6): Show |
T | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 96 | 0.0104 | -13 | c.163 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235589189 | GTTTTGTT others(6): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 67 | 0.0149 | -13 | c.163 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235604572 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0001others(2): Show | a0001c0001t0002g0049 a0001c0001t0010g0014 a0001c0002t0001g0076 others(2): Show |
5 | 25 | 0.2000 | -13 | c.164 others(34): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235651184 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01123.hp1 others(5): Show |
a0001a0002 | a0001c0005a0001c0006a0001c0009others(2): Show | a0001c0005t0004a0001c0006t0037a0001c0006t0046others(5): Show | a0001c0005t0004g0058 a0001c0006t0037g0021 a0001c0006t0046g0040 others(5): Show |
8 | 10 | 0.8000 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235677906 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG02080.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0003g0034 a0001c0001t0005g0012 a0001c0001t0008g0069 others(6): Show |
9 | 10 | 0.9000 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235686644 | TAGATATA others(6): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0020 | 1 | 97 | 0.0103 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235686648 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0004 | a0002c0004t0030 | a0002c0004t0030g0045 | 1 | 98 | 0.0102 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235686650 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01928.hp1 HG02896.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001a0002c0004t0006 | a0001c0002t0001g0076 a0002c0004t0001g0017 a0002c0004t0006g0024 |
3 | 97 | 0.0309 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235686655 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0055 | 1 | 98 | 0.0102 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235692558 | TCTCCCCC others(6): Show |
T | intron_variant | MODIFIER | HG03195.hp1 NA19030.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0021a0001c0005t0040 | a0001c0003t0021g0023 a0001c0005t0040g0006 |
2 | 98 | 0.0204 | -13 | c.164 others(32): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151109168 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 352 | 0.0028 | -13 | c.332 others(30): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151139005 | CCCTACTT others(6): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 352 | 0.0028 | -13 | c.166 others(30): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 12/17 | chr7 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86319743 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG02145.hp2 HG02602.hp1 others(2): Show |
a0001a0002a0008 | a0001c0002a0001c0012a0002c0005others(2): Show | a0001c0002t0016a0001c0012t0041a0002c0005t0055others(2): Show | a0001c0002t0016g0001 a0001c0012t0041g0062 a0002c0005t0055g0034 others(2): Show |
5 | 14 | 0.3571 | -13 | c.237 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86343308 | TATGAATC others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(73): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(70): Show | a0001c0001t0001g0083 a0001c0001t0001g0111 a0001c0001t0003g0113 others(73): Show |
76 | 132 | 0.5758 | -13 | c.237 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | chr15 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86359387 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp1 NA19043.hp1 |
a0001a0021 | a0001c0001a0001c0052a0021c0038 | a0001c0001t0003a0001c0052t0026a0021c0038t0013 | a0001c0001t0003g0098 a0001c0052t0026g0126 a0021c0038t0013g0091 |
3 | 42 | 0.0714 | -13 | c.237 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86625372 | TTTTTTTG others(6): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG02257.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0102 a0001c0001t0003g0104 a0001c0001t0011g0094 others(8): Show |
11 | 132 | 0.0833 | -13 | c.299 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |