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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80726501 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0002t0001g0231 others(1): Show |
4 | 72 | 0.0556 | 13 | c.591 others(32): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128033524 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp1 others(34): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(12): Show | a0002c0002t0001g0276 a0002c0002t0001g0279 a0002c0002t0001g0280 others(34): Show |
37 | 208 | 0.1779 | 13 | c.134 others(32): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0008 a0001c0001t0011g0013 |
2 | 92 | 0.0217 | 13 | c.723 others(30): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TCTCTCTC others(6): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 48 | 0.0208 | 13 | c.*97 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTTCTCTC others(6): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0084 | 1 | 48 | 0.0208 | 13 | c.*97 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 96 | 0.0104 | 13 | c.509 others(30): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26787584 | A | ATAAAGCG others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG02015.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 others(45): Show |
49 | 356 | 0.1376 | 13 | c.286 others(32): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203384290 | G | GTTTTTGT others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02523.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0123 a0001c0001t0004g0131 a0001c0001t0004g0136 others(4): Show |
7 | 265 | 0.0264 | 13 | c.480 others(30): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 others(1): Show |
4 | 132 | 0.0303 | 13 | c.480 others(30): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0100 a0001c0001t0005g0115 a0001c0001t0005g0156 others(3): Show |
6 | 138 | 0.0435 | 13 | c.119 others(32): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0027a0001c0002t0005others(1): Show | a0001c0001t0003g0208 a0001c0001t0027g0117 a0001c0002t0005g0116 others(1): Show |
4 | 136 | 0.0294 | 13 | c.119 others(32): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100841194 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0003 | a0003c0020 | a0003c0020t0004 | a0003c0020t0004g0211 | 1 | 55 | 0.0182 | 13 | c.176 others(30): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100841220 | T | TTTTTGTT others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0018 | a0018c0038 | a0018c0038t0012 | a0018c0038t0012g0159 | 1 | 213 | 0.0047 | 13 | c.176 others(30): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0006 | 1 | 21 | 0.0476 | 13 | c.911 others(30): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100879239 | T | TTAAGTGC others(6): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0206 | 1 | 236 | 0.0042 | 13 | c.697 others(30): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 6/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0019 | a0002c0019t0005 | a0002c0019t0005g0033 | 1 | 48 | 0.0208 | 13 | c.461 others(30): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179100979 | A | AGACCTTG others(6): Show |
3_prime_UTR_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0209 | 1 | 348 | 0.0029 | 13 | c.*67 others(24): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 6738 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179101996 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp1 NA18979.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0008 a0001c0003t0010g0018 |
2 | 35 | 0.0571 | 13 | c.*57 others(24): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 12/12 | 5721 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179124464 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0223 | 1 | 92 | 0.0109 | 13 | c.687 others(30): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 4/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179176702 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01069.hp1 others(55): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0181 others(55): Show |
58 | 83 | 0.6988 | 13 | c.158 others(32): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABL2_chr1_179094330_179234677 | 179178401 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01496.hp1 HG01934.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0008a0001c0003t0010 | a0001c0001t0002g0039 a0001c0003t0008g0003 a0001c0003t0008g0007 others(5): Show |
8 | 157 | 0.0510 | 13 | c.158 others(32): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114523190 | T | TTTGTGAA others(6): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0187 | 1 | 254 | 0.0039 | 13 | c.894 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114580205 | T | TTATATAT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG01081.hp2 others(13): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(10): Show | a0001c0001t0001g0087 a0001c0001t0005g0036 a0001c0001t0005g0071 others(13): Show |
16 | 250 | 0.0640 | 13 | c.380 others(30): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 2/22 | chr10 | TogoVar | |||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01978.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0013a0001c0001t0015a0001c0001t0027others(18): Show | a0001c0001t0013g0033 a0001c0001t0015g0028 a0001c0001t0027g0158 others(18): Show |
21 | 78 | 0.2692 | 13 | c.244 others(32): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATCTTTTT others(6): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0216 | 1 | 84 | 0.0119 | 13 | c.182 others(32): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8056112 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0165 a0001c0001t0001g0191 others(4): Show |
7 | 24 | 0.2917 | 13 | c.764 others(30): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 7/20 | chr4 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8066475 | G | GCATTCTA others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 320 | 0.0031 | 13 | c.676 others(30): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | |||||||
ABRAXAS1_chr4_83454517_83490100 | 83476770 | A | AGTACTTT others(6): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 354 | 0.0028 | 13 | c.179 others(27): Show |
ABRAXAS1 | ENSG00000163322.14 | transcript | ENST00000321945.12 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1022120 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG01891.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0060 a0001c0001t0001g0132 a0001c0001t0002g0130 others(16): Show |
19 | 190 | 0.1000 | 13 | c.179 others(32): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1025119 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG00733.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0068 a0001c0001t0001g0100 a0001c0001t0001g0157 others(31): Show |
34 | 134 | 0.2537 | 13 | c.179 others(34): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34182497 | T | TGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0006 | a0001c0001t0001g0074 a0001c0001t0001g0095 a0001c0001t0001g0108 others(3): Show |
6 | 173 | 0.0347 | 13 | c.124 others(32): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34195075 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 52 | 0.0192 | 13 | c.124 others(32): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34274158 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 116 | 0.0086 | 13 | c.884 others(32): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107335286 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0057 | 1 | 23 | 0.0435 | 13 | c.113 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107441774 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0025 | a0001c0001t0006g0102 a0002c0002t0025g0164 |
2 | 129 | 0.0155 | 13 | c.113 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107482900 | C | CTCTCCTT others(6): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0164 | 1 | 186 | 0.0054 | 13 | c.113 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107525324 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01169.hp2 HG01256.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026 a0001c0001t0002g0082 a0001c0001t0003g0027 others(8): Show |
11 | 83 | 0.1325 | 13 | c.128 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107542311 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG02818.hp2 |
a0002a0003a0006 | a0002c0015a0003c0020a0006c0010 | a0002c0015t0007a0003c0020t0001a0006c0010t0003 | a0002c0015t0007g0166 a0003c0020t0001g0028 a0006c0010t0003g0162 |
3 | 93 | 0.0323 | 13 | c.128 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107566685 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0017 | 1 | 186 | 0.0054 | 13 | c.149 others(34): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107626343 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0028 | 1 | 34 | 0.0294 | 13 | c.263 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49787272 | A | ACAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 2 | 350 | 0.0057 | 13 | c.954 others(26): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00621.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0047 a0001c0001t0001g0187 a0001c0001t0001g0196 others(32): Show |
35 | 117 | 0.2991 | 13 | c.508 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37163214 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 298 | 0.0034 | 13 | c.508 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 99 | 0.0101 | 13 | c.507 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 99 | 0.0101 | 13 | c.507 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG03669.hp1 NA18950.hp1 NA18954.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0144 a0001c0001t0001g0213 a0001c0001t0002g0020 others(1): Show |
4 | 102 | 0.0392 | 13 | c.507 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0292 a0001c0001t0004g0162 a0001c0001t0004g0168 others(1): Show |
4 | 102 | 0.0392 | 13 | c.507 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 274 | 0.0036 | 13 | c.507 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37185402 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0190 | 1 | 130 | 0.0077 | 13 | c.477 others(32): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37373531 | C | CCCAGGCC others(6): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp2 others(30): Show |
a0001a0005 | a0001c0002a0001c0010a0001c0015others(1): Show | a0001c0002t0001a0001c0002t0024a0001c0010t0001others(2): Show | a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0113 others(30): Show |
33 | 298 | 0.1107 | 13 | c.38+ others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar |