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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03942.hp1 HG04184.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0006g0144 others(6): Show |
11 | 57 | 0.1930 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 others(6): Show |
11 | 57 | 0.1930 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02074.hp1 HG02602.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0002t0001a0003c0006t0001 | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0002t0001g0209 others(2): Show |
5 | 51 | 0.0980 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02735.hp1 NA19056.hp2 NA19076.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0236 others(1): Show |
4 | 50 | 0.0800 | 18 | c.135 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0069 |
2 | 59 | 0.0339 | 18 | c.574 others(33): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18979.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0017a0001c0004t0005 | a0001c0002t0017g0292 a0001c0004t0005g0225 |
2 | 198 | 0.0101 | 18 | c.276 others(33): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0016 | 1 | 275 | 0.0036 | 18 | c.276 others(33): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4752151 | G | GGGAGGAG others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0281 | 1 | 332 | 0.0030 | 18 | c.830 others(37): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4755658 | A | AGTAAGGA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0046a0001c0002t0012a0001c0002t0150 | a0001c0001t0046g0276 a0001c0002t0012g0171 a0001c0002t0012g0194 others(3): Show |
6 | 332 | 0.0181 | 18 | c.830 others(37): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127865990 | A | AGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 NA18990.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0071 a0001c0001t0001g0072 others(1): Show |
4 | 424 | 0.0094 | 18 | c.*20 others(29): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 495 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728998 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18939.hp1 NA18982.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0002g0133 a0001c0001t0002g0372 a0001c0001t0003g0052 others(2): Show |
5 | 323 | 0.0155 | 18 | c.152 others(35): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65148140 | G | GGGGCGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 298 | 0.0034 | 18 | c.-26 others(27): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 62 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65148157 | G | GAGGGCGA others(11): Show |
upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0080 | 1 | 298 | 0.0034 | 18 | c.-25 others(27): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 45 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65172063 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03239.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0019a0001c0002t0001others(1): Show | a0001c0001t0001g0084 a0001c0001t0019g0260 a0001c0002t0001g0089 others(1): Show |
4 | 62 | 0.0645 | 18 | c.146 others(37): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65172103 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0227 | 1 | 256 | 0.0039 | 18 | c.146 others(37): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77357992 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 225 | 0.0044 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02071.hp1 HG02922.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0067 others(3): Show |
6 | 80 | 0.0750 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01175.hp2 others(29): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0001g0198 others(29): Show |
32 | 106 | 0.3019 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0208 | 1 | 75 | 0.0133 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0240 | 1 | 75 | 0.0133 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00609.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0258 a0001c0001t0003g0152 a0001c0001t0003g0154 others(37): Show |
40 | 114 | 0.3509 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367569 | A | ATGTTATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0141 | 1 | 137 | 0.0073 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367579 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02965.hp1 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002a0002c0002t0013 | a0001c0001t0004g0093 a0002c0002t0002g0274 a0002c0002t0013g0094 |
3 | 157 | 0.0191 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77367854 | A | AACATATG others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 HG02896.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0258 a0001c0001t0003g0167 a0001c0001t0003g0169 others(7): Show |
10 | 97 | 0.1031 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367854 | A | AACATATG others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0143 | 1 | 88 | 0.0114 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367854 | A | AATATATG others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01928.hp2 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0047 a0001c0001t0004g0022 a0001c0001t0004g0029 others(5): Show |
8 | 95 | 0.0842 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368237 | A | ATATATAA others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01928.hp2 HG01934.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0047 a0001c0001t0004g0022 a0001c0001t0004g0029 others(8): Show |
11 | 239 | 0.0460 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368245 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01515.hp1 NA18941.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019 | a0001c0001t0001g0045 a0001c0001t0003g0147 a0001c0001t0003g0168 others(1): Show |
4 | 86 | 0.0465 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368284 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 221 | 0.0045 | 18 | c.891 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTATGTGT others(11): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0140 | 1 | 175 | 0.0057 | 18 | c.892 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG02738.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0216 |
2 | 176 | 0.0114 | 18 | c.892 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475195 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 243 | 0.0041 | 18 | c.106 others(37): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0181 | 1 | 31 | 0.0323 | 18 | c.499 others(35): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109636750 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG01496.hp1 others(28): Show |
a0001a0003a0004others(5): Show | a0001c0003a0003c0001a0003c0025others(6): Show | a0001c0003t0001a0003c0001t0001a0003c0001t0002others(7): Show | a0001c0003t0001g0206 a0001c0003t0001g0216 a0001c0003t0001g0218 others(27): Show |
31 | 88 | 0.3523 | 18 | c.934 others(35): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 10/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109695585 | C | CACACACA others(11): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 NA18992.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0257 a0004c0005t0001g0262 |
2 | 376 | 0.0053 | 18 | c.-44 others(29): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 4384 | chr6 | TogoVar | |||||||
AKAP10_chr17_19899302_19982828 | 19920855 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 70 | 0.0143 | 18 | c.175 others(35): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 11/14 | chr17 | TogoVar | |||||||
AKAP11_chr13_42267152_42328261 | 42319906 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02523.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0067a0001c0001t0068 | a0001c0001t0067g0021 a0001c0001t0068g0002 |
2 | 28 | 0.0714 | 18 | c.*70 others(27): Show |
AKAP11 | ENSG00000023516.9 | transcript | ENST00000025301.4 | protein_coding | 13/13 | 723 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151285384 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0010 | a0006c0010t0017 | a0006c0010t0017g0122 | 1 | 14 | 0.0714 | 18 | c.163 others(37): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151312793 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG02451.hp2 |
a0002a0004 | a0002c0005a0004c0006 | a0002c0005t0002a0004c0006t0001 | a0002c0005t0002g0233 a0004c0006t0001g0184 |
2 | 155 | 0.0129 | 18 | c.319 others(35): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85498197 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03492.hp1 HG04115.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0045others(1): Show | a0001c0002t0053a0001c0004t0001a0001c0045t0068others(1): Show | a0001c0002t0053g0040 a0001c0004t0001g0023 a0001c0004t0001g0137 others(2): Show |
5 | 272 | 0.0184 | 18 | c.33+ others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0016 | a0003c0016t0003 | a0003c0016t0003g0011 | 1 | 29 | 0.0345 | 18 | c.33+ others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18956.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0019a0002c0001t0002 | a0001c0002t0019g0071 a0002c0001t0002g0153 |
2 | 12 | 0.1667 | 18 | c.34- others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85546321 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0012 | 1 | 64 | 0.0156 | 18 | c.662 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85567941 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0027 | a0027c0060 | a0027c0060t0011 | a0027c0060t0011g0206 | 1 | 51 | 0.0196 | 18 | c.663 others(35): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85601608 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG03688.hp2 HG03704.hp1 others(1): Show |
a0005a0006a0036 | a0005c0005a0006c0033a0036c0064 | a0005c0005t0004a0006c0033t0005a0036c0064t0005 | a0005c0005t0004g0288 a0005c0005t0004g0290 a0006c0033t0005g0229 others(1): Show |
4 | 60 | 0.0667 | 18 | c.416 others(39): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85630234 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(8): Show |
a0001a0002a0004others(3): Show | a0001c0004a0001c0012a0002c0001others(5): Show | a0001c0004t0001a0001c0004t0023a0001c0012t0001others(7): Show | a0001c0004t0001g0024 a0001c0004t0023g0046 a0001c0012t0001g0292 others(8): Show |
11 | 64 | 0.1719 | 18 | c.416 others(37): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85650755 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG04115.hp2 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0022 | a0001c0004t0001g0137 a0001c0004t0022g0295 a0001c0004t0022g0298 |
3 | 25 | 0.1200 | 18 | c.437 others(37): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587847 | T | TCCCCCTT others(11): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0025 | 1 | 52 | 0.0192 | 18 | c.-39 others(29): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3756 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1588054 | C | CTCCTTCC others(11): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 74 | 0.0135 | 18 | c.-37 others(29): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3549 | chrX | TogoVar | |||||||
AKAP1_chr17_57080246_57126344 | 57119830 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00738.hp2 others(28): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0023others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(8): Show | a0001c0001t0001g0093 a0001c0001t0001g0112 a0001c0001t0001g0120 others(28): Show |
31 | 155 | 0.2000 | 18 | c.263 others(35): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |