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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03041.hp2 HG03927.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0005 | a0001c0001t0001g0103 a0001c0001t0003g0203 a0001c0002t0005g0073 |
3 | 32 | 0.0938 | 8 | c.399 others(27): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACACG others(1): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0001a0001c0002t0003 | a0001c0001t0008g0192 a0001c0001t0008g0193 a0001c0001t0008g0195 others(2): Show |
5 | 34 | 0.1471 | 8 | c.399 others(27): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143274673 | G | GATGAATG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(1): Show | a0001c0001t0001g0116 a0001c0001t0001g0174 a0001c0001t0001g0175 others(8): Show |
11 | 143 | 0.0769 | 8 | c.400 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0113 a0001c0001t0001g0133 |
3 | 111 | 0.0270 | 8 | c.-21 others(25): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG02809.hp1 NA18978.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0089 a0001c0001t0001g0243 a0003c0003t0001g0191 |
3 | 82 | 0.0366 | 8 | c.*65 others(19): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6018968 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0027 a0001c0001t0001g0123 a0001c0001t0001g0132 others(63): Show |
86 | 143 | 0.6014 | 8 | c.574 others(23): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03098.hp2 HG03486.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0005 | a0001c0002t0003a0001c0004t0002a0001c0004t0011others(1): Show | a0001c0002t0003g0039 a0001c0004t0002g0273 a0001c0004t0011g0211 others(1): Show |
5 | 201 | 0.0249 | 8 | c.276 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00738.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0058 others(10): Show |
18 | 292 | 0.0616 | 8 | c.276 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01175.hp2 HG02135.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0002g0003 a0001c0001t0002g0059 a0001c0001t0002g0199 others(8): Show |
14 | 288 | 0.0486 | 8 | c.276 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIP_chr11_67478026_67496103 | 67494818 | G | GCGAGAGG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(11): Show |
80 | 141 | 0.5674 | 8 | c.*38 others(19): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3716 | chr11 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02976.hp1 HG04228.hp1 |
a0002 | a0002c0021a0002c0026a0002c0044 | a0002c0021t0002a0002c0026t0002a0002c0044t0001 | a0002c0021t0002g0037 a0002c0026t0002g0037 a0002c0044t0001g0086 |
3 | 211 | 0.0142 | 8 | c.*14 others(19): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01346.hp2 HG01975.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0154others(11): Show | a0001c0001t0002g0125 a0001c0001t0008g0143 a0001c0001t0154g0032 others(11): Show |
14 | 32 | 0.4375 | 8 | c.29+ others(25): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4778571 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 NA18939.hp1 others(1): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0002t0086a0001c0002t0151others(1): Show | a0001c0002t0002g0116 a0001c0002t0086g0136 a0001c0002t0151g0139 others(1): Show |
4 | 52 | 0.0769 | 8 | c.*60 others(25): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4791048 | G | GCTAAATG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0090a0001c0002t0088others(2): Show | a0001c0001t0013g0135 a0001c0001t0013g0169 a0001c0001t0013g0195 others(5): Show |
8 | 332 | 0.0241 | 8 | c.*85 others(19): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 16550 | chr1 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33020188 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02132.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0108 a0001c0001t0001g0122 others(3): Show |
7 | 81 | 0.0864 | 8 | c.425 others(25): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
AK2_chr1_33002986_33041883 | 33034449 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0004c0004t0004 | a0001c0001t0004g0046 a0001c0001t0004g0231 a0004c0004t0004g0222 |
4 | 183 | 0.0219 | 8 | c.93+ others(23): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728854 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG02257.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0076 a0001c0001t0003g0012 a0001c0001t0003g0105 others(12): Show |
18 | 376 | 0.0479 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728856 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01081.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0182 a0001c0001t0001g0356 a0001c0001t0003g0060 others(9): Show |
12 | 237 | 0.0506 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728858 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0001 | 3 | 88 | 0.0341 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728866 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0337 a0001c0001t0001g0349 a0001c0001t0003g0020 others(15): Show |
21 | 22 | 0.9545 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4728998 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02523.hp2 NA18986.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019a0001c0001t0025others(1): Show | a0001c0001t0003g0321 a0001c0001t0019g0320 a0001c0001t0025g0155 others(2): Show |
5 | 323 | 0.0155 | 8 | c.152 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735266 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02109.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0016a0001c0001t0020a0002c0002t0006others(1): Show | a0001c0001t0016g0096 a0001c0001t0016g0097 a0001c0001t0020g0001 others(6): Show |
11 | 170 | 0.0647 | 8 | c.151 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735266 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(155): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 others(137): Show |
158 | 317 | 0.4984 | 8 | c.151 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735346 | T | TATACCTA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02109.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0004g0270 a0001c0001t0004g0358 a0001c0001t0004g0384 others(9): Show |
13 | 460 | 0.0283 | 8 | c.151 others(25): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65143439 | A | AATTTATT others(1): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01243.hp1 HG01255.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0076a0001c0001t0077a0001c0002t0059others(1): Show | a0001c0001t0076g0157 a0001c0001t0077g0159 a0001c0002t0059g0066 others(1): Show |
4 | 124 | 0.0323 | 8 | c.-49 others(19): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 4763 | chr1 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65166310 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18955.hp1 NA19091.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0064 | a0001c0001t0001g0077 a0001c0001t0001g0118 a0001c0002t0064g0080 |
3 | 64 | 0.0469 | 8 | c.145 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01928.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0044 | a0001c0002t0003g0292 a0001c0002t0005g0280 a0001c0002t0005g0281 others(3): Show |
6 | 261 | 0.0230 | 8 | c.146 others(27): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65232856 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG02717.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(4): Show | a0001c0001t0001g0119 a0001c0001t0009g0263 a0001c0002t0002g0001 others(5): Show |
8 | 39 | 0.2051 | 8 | c.*66 others(19): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 712 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01106.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0095 others(5): Show |
8 | 82 | 0.0976 | 8 | c.891 others(27): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77443677 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03139.hp2 HG03492.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0001c0001t0023others(1): Show | a0001c0001t0001g0212 a0001c0001t0019g0157 a0001c0001t0023g0208 others(3): Show |
6 | 89 | 0.0674 | 8 | c.105 others(29): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77462297 | T | TTGAATAG others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02080.hp2 NA18940.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0201 others(4): Show |
7 | 282 | 0.0248 | 8 | c.106 others(29): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475195 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02723.hp2 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0104 a0001c0001t0001g0280 a0001c0001t0028g0185 |
3 | 245 | 0.0122 | 8 | c.106 others(27): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77477003 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 NA19000.hp2 NA19012.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004 | a0001c0003t0021a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0003t0021g0238 a0002c0002t0002g0053 a0002c0002t0005g0192 others(2): Show |
5 | 50 | 0.1000 | 8 | c.106 others(27): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77506216 | T | TTTGGTTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(76): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(76): Show |
79 | 211 | 0.3744 | 8 | c.114 others(29): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77506254 | T | TGGTTGGT others(1): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02895.hp2 HG02922.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0004 a0001c0001t0001g0092 a0002c0002t0002g0279 |
3 | 282 | 0.0106 | 8 | c.114 others(29): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77531989 | T | TCCGGCCG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp2 others(125): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(125): Show |
128 | 248 | 0.5161 | 8 | c.142 others(27): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96402185 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02818.hp2 HG02895.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001a0004c0004t0002others(1): Show | a0002c0002t0001g0162 a0002c0002t0001g0202 a0004c0004t0001g0170 others(2): Show |
5 | 121 | 0.0413 | 8 | c.295 others(25): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96403114 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0037 others(77): Show |
80 | 173 | 0.4624 | 8 | c.295 others(25): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96403145 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18948.hp1 NA18956.hp1 others(2): Show |
a0001a0013 | a0001c0001a0013c0020 | a0001c0001t0001a0001c0001t0009a0013c0020t0001 | a0001c0001t0001g0125 a0001c0001t0001g0207 a0001c0001t0001g0215 others(2): Show |
5 | 313 | 0.0160 | 8 | c.295 others(25): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96433540 | T | TCTACACT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00741.hp2 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0006others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0091 others(32): Show |
35 | 314 | 0.1115 | 8 | c.610 others(25): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96443780 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02135.hp1 HG03516.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0016 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0186 a0002c0002t0001g0202 a0002c0002t0001g0205 others(3): Show |
6 | 31 | 0.1935 | 8 | c.779 others(23): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132848115 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00673.hp1 others(23): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0122 others(23): Show |
26 | 160 | 0.1625 | 8 | c.402 others(25): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 5/12 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109497326 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03453.hp2 NA18994.hp1 |
a0001a0005a0008 | a0001c0003a0005c0009a0008c0013 | a0001c0003t0001a0005c0009t0001a0008c0013t0001 | a0001c0003t0001g0192 a0005c0009t0001g0084 a0008c0013t0001g0030 |
3 | 283 | 0.0106 | 8 | c.531 others(25): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 38/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109497358 | A | ACTCTCTC others(1): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01496.hp1 HG02109.hp2 |
a0002a0003 | a0002c0002a0003c0001 | a0002c0002t0002a0003c0001t0002 | a0002c0002t0002g0138 a0003c0001t0002g0002 |
3 | 248 | 0.0121 | 8 | c.531 others(25): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 38/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109497362 | A | ACACACTC others(1): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02109.hp1 HG02132.hp2 others(18): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0001a0004c0005t0001 | a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 others(17): Show |
21 | 184 | 0.1141 | 8 | c.531 others(25): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 38/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109500034 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02055.hp2 HG02148.hp2 others(14): Show |
a0001a0002a0004 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(3): Show | a0001c0003t0001g0188 a0001c0004t0001g0091 a0001c0004t0001g0166 others(14): Show |
17 | 58 | 0.2931 | 8 | c.485 others(25): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 35/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109502957 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02896.hp1 HG02897.hp2 others(7): Show |
a0003a0004a0008 | a0003c0001a0004c0005a0008c0013 | a0003c0001t0001a0004c0005t0001a0008c0013t0001 | a0003c0001t0001g0290 a0004c0005t0001g0260 a0004c0005t0001g0264 others(7): Show |
10 | 172 | 0.0581 | 8 | c.484 others(27): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 35/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109576420 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(25): Show |
a0003a0012 | a0003c0001a0003c0016a0003c0028others(1): Show | a0003c0001t0002a0003c0016t0002a0003c0028t0002others(1): Show | a0003c0001t0002g0295 a0003c0001t0002g0301 a0003c0001t0002g0302 others(25): Show |
28 | 77 | 0.3636 | 8 | c.219 others(27): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109577904 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(244): Show |
a0001a0003a0004others(6): Show | a0001c0003a0001c0004a0001c0006others(13): Show | a0001c0003t0001a0001c0004t0001a0001c0006t0003others(14): Show | a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 others(242): Show |
247 | 357 | 0.6919 | 8 | c.219 others(27): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109577904 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18991.hp1 NA19003.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0105 a0001c0004t0001g0106 a0001c0004t0001g0107 |
3 | 113 | 0.0265 | 8 | c.219 others(27): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 20/40 | chr6 | TogoVar |