regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABLIM2_chr4_7960327_8163813 | 8056112 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00609.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0037a0001c0001t0001g0052a0001c0001t0001g0070others(36): Show | 39 | 322 | 0.1211 | 11 | c.764 others(28): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 7/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8066360 | G | GGGAGGAA others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0094 | 1 | 322 | 0.0031 | 11 | c.676 others(28): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 6/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8090569 | C | CTTTCCAC others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0128a0001c0002t0005g0286 | 2 | 322 | 0.0062 | 11 | c.339 others(28): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8091568 | A | ATAATTAT others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0211 | 1 | 322 | 0.0031 | 11 | c.339 others(28): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8091838 | T | TATTATAT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0104others(28): Show | 31 | 322 | 0.0963 | 11 | c.339 others(28): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ABRACL_chr6_139023745_139048302 | 139041531 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01433.hp2 HG03098.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0166a0001c0001t0002g0025a0001c0001t0002g0178others(4): Show | 9 | 448 | 0.0201 | 11 | c.62- others(26): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABRACL_chr6_139023745_139048302 | 139041531 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18998.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206a0001c0001t0002g0214 | 2 | 448 | 0.0045 | 11 | c.62- others(26): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABRAXAS1_chr4_83454517_83490100 | 83465299 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069a0002c0002t0001g0161 | 2 | 356 | 0.0056 | 11 | c.682 others(28): Show |
ABRAXAS1 | ENSG00000163322.14 | transcript | ENST00000321945.12 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
ABRA_chr8_106754483_106775244 | 106758499 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 440 | 0.0046 | 11 | c.*25 others(22): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 983 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1022120 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01070.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0058a0001c0001t0001g0063a0001c0001t0001g0065others(38): Show | 41 | 337 | 0.1217 | 11 | c.179 others(30): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1022120 | A | ACAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02486.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0009a0001c0001t0067a0001c0001t0081others(2): Show | a0001c0001t0009g0018a0001c0001t0067g0091a0001c0001t0081g0253others(2): Show | 5 | 337 | 0.0148 | 11 | c.179 others(30): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1025119 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02056.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0098a0001c0001t0001g0194a0001c0001t0001g0196others(2): Show | 5 | 337 | 0.0148 | 11 | c.179 others(32): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1076725 | G | GGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18970.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0085 | a0001c0001t0002g0180a0001c0002t0085g0328 | 2 | 337 | 0.0059 | 11 | c.700 others(28): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1076726 | G | GGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG04184.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0012 | a0001c0001t0001g0054a0001c0003t0012g0119 | 2 | 337 | 0.0059 | 11 | c.700 others(28): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1092900 | G | GGCTCACT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(285): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(98): Show | a0001c0001t0001g0001a0001c0001t0001g0054a0001c0001t0001g0056others(284): Show | 288 | 337 | 0.8546 | 11 | c.346 others(28): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 3/22 | chr17 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34172395 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 246 | 0.0041 | 11 | c.139 others(28): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 4/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34182497 | T | TGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0081a0001c0001t0001g0091a0001c0001t0001g0138others(5): Show | 8 | 246 | 0.0325 | 11 | c.124 others(30): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34195075 | C | CGGGGGGG others(4): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 246 | 0.0041 | 11 | c.124 others(30): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 3/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107335286 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 186 | 0.0054 | 11 | c.113 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107393334 | A | AGAGGCAC others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp2 others(48): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0026others(48): Show | 51 | 186 | 0.2742 | 11 | c.113 others(32): 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(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG02559.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0030others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0055a0001c0001t0002g0098a0001c0001t0002g0157others(13): Show | 16 | 186 | 0.0860 | 11 | c.113 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107469866 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 186 | 0.0054 | 11 | c.113 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107503756 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG01074.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0026a0001c0001t0002g0082a0001c0001t0002g0093others(21): Show | 24 | 186 | 0.1290 | 11 | c.113 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107508443 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 HG03492.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(2): Show | a0001c0001t0001g0026a0001c0001t0003g0027a0001c0001t0024g0056others(2): Show | 5 | 186 | 0.0269 | 11 | c.113 others(32): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107508444 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19090.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0005a0002c0002t0001 | a0001c0003t0005g0158a0002c0002t0001g0128 | 2 | 186 | 0.0108 | 11 | c.113 others(32): 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(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG02155.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009 | a0001c0001t0002a0001c0003t0005a0002c0009t0029 | a0001c0001t0002g0042a0001c0003t0005g0135a0001c0003t0005g0143others(1): Show | 4 | 186 | 0.0215 | 11 | c.128 others(30): 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(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG01099.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0011a0001c0001t0003g0027a0001c0001t0003g0032others(11): Show | 14 | 186 | 0.0753 | 11 | c.128 others(30): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01169.hp2 HG01516.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0138a0001c0001t0001g0210a0001c0001t0002g0035others(11): Show | 14 | 299 | 0.0468 | 11 | c.508 others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 299 | 0.0033 | 11 | c.507 others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 299 | 0.0033 | 11 | c.507 others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 299 | 0.0033 | 11 | c.507 others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37174020 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 | 1 | 299 | 0.0033 | 11 | c.507 others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37185402 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03209.hp1 NA19043.hp2 |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0021 | a0001c0004t0005g0090a0001c0004t0005g0192a0001c0004t0021g0023 | 3 | 299 | 0.0100 | 11 | c.477 others(30): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37280730 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0124 | 1 | 299 | 0.0033 | 11 | c.610 others(28): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 5/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133863 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0022 | a0001c0022t0004 | a0001c0022t0004g0007 | 1 | 308 | 0.0033 | 11 | c.-9- others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109133863 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0006 | a0006c0078 | a0006c0078t0001 | a0006c0078t0001g0181 | 1 | 308 | 0.0033 | 11 | c.-9- others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109133863 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0027 | a0027c0065 | a0027c0065t0005 | a0027c0065t0005g0225 | 1 | 308 | 0.0033 | 11 | c.-9- others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG02523.hp1 others(5): Show |
a0001a0006a0014others(2): Show | a0001c0023a0001c0038a0001c0046others(5): Show | a0001c0023t0001a0001c0038t0001a0001c0046t0002others(5): Show | a0001c0023t0001g0122a0001c0038t0001g0201a0001c0046t0002g0190others(5): Show | 8 | 308 | 0.0260 | 11 | c.-9- others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109166649 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0193 | 1 | 308 | 0.0033 | 11 | c.654 others(26): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109206428 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 NA18906.hp1 others(2): Show |
a0001a0015 | a0001c0022a0001c0069a0015c0119 | a0001c0022t0004a0001c0069t0002a0015c0119t0004 | a0001c0022t0004g0004a0001c0022t0004g0005a0001c0022t0004g0006others(2): Show | 5 | 308 | 0.0162 | 11 | c.291 others(28): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTTATATA others(4): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0078 | 1 | 308 | 0.0033 | 11 | c.678 others(28): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262983 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0021 | a0002c0021t0003 | a0002c0021t0003g0252 | 1 | 308 | 0.0033 | 11 | c.678 others(28): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111690780 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02257.hp2 HG02717.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0319a0002c0003t0003g0320a0002c0003t0003g0321others(3): Show | 6 | 336 | 0.0179 | 11 | c.-13 others(28): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111760831 | G | GAAATATT others(4): Show |
downstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 336 | 0.0030 | 11 | c.*43 others(22): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 3733 | chr12 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210227223 | A | AGGCTGGT others(4): Show |
upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 274 | 0.0037 | 11 | c.-19 others(22): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 1777 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATTATAT others(4): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0259 | 2 | 364 | 0.0055 | 11 | c.468 others(28): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75753795 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0263a0001c0001t0001g0264a0001c0001t0001g0266others(12): Show | 15 | 364 | 0.0412 | 11 | c.945 others(28): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG02698.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0144a0001c0001t0002g0151a0001c0001t0002g0153others(5): Show | 8 | 364 | 0.0220 | 11 | c.946 others(26): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045171 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0190 | 1 | 374 | 0.0027 | 11 | c.900 others(26): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88801586 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 HG01515.hp2 NA18942.hp1 others(1): Show |
a0001a0003a0014others(1): Show | a0001c0002a0003c0003a0014c0153others(1): Show | a0001c0002t0001a0003c0003t0001a0014c0153t0001others(1): Show | a0001c0002t0001g0116a0003c0003t0001g0049a0014c0153t0001g0026others(1): Show | 4 | 368 | 0.0109 | 11 | c.-22 others(22): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1849 | chr15 | TogoVar |