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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD8_chr19_17287131_17308425 | 17290983 | C | CAAACAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(63): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0221a0001c0001t0002g0088a0001c0001t0002g0090others(56): Show | 66 | 386 | 0.1710 | 7 | c.*16 others(18): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1147 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01261.hp2 HG01358.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0004a0001c0001t0003g0008a0001c0001t0004g0080others(12): Show | 15 | 358 | 0.0419 | 7 | c.117 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26858454 | C | CTTTTTTT | intron_variant | MODIFIER | HG02738.hp2 HG03486.hp1 NA18955.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0003g0003a0001c0001t0003g0286others(4): Show | 7 | 358 | 0.0196 | 7 | c.117 others(24): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203331348 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0200a0001c0001t0001g0201a0001c0001t0001g0202others(189): Show | 192 | 320 | 0.6000 | 7 | c.117 others(24): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100841194 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02683.hp1 others(2): Show |
a0001a0003a0010others(1): Show | a0001c0013a0003c0027a0010c0061others(1): Show | a0001c0013t0002a0001c0013t0005a0003c0027t0002others(2): Show | a0001c0013t0002g0116a0001c0013t0005g0118a0003c0027t0002g0009others(2): Show | 5 | 238 | 0.0210 | 7 | c.176 others(24): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100867640 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0003a0001c0001t0021a0001c0004t0002others(6): Show | a0001c0001t0003g0112a0001c0001t0021g0075a0001c0004t0002g0025others(7): Show | 10 | 238 | 0.0420 | 7 | c.911 others(22): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100894938 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG02004.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0004a0001c0022a0002c0006others(2): Show | a0001c0004t0009a0001c0022t0001a0002c0006t0001others(2): Show | a0001c0004t0009g0191a0001c0022t0001g0125a0002c0006t0001g0163others(3): Show | 6 | 238 | 0.0252 | 7 | c.461 others(24): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100896563 | C | CTTAAAAT | intron_variant | MODIFIER | NA18612.hp2 NA18941.hp1 |
a0001a0003 | a0001c0005a0003c0003 | a0001c0005t0004a0003c0003t0003 | a0001c0005t0004g0195a0003c0003t0003g0092 | 2 | 238 | 0.0084 | 7 | c.461 others(24): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 4/67 | chr3 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179147181 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01934.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0012a0001c0003t0023a0001c0003t0030others(4): Show | a0001c0001t0012g0063a0001c0003t0023g0010a0001c0003t0023g0011others(7): Show | 10 | 350 | 0.0286 | 7 | c.158 others(26): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179229711 | T | TCCCGCCC | upstream_gene_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG02895.hp2 others(2): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0006a0001c0002t0010a0001c0007t0040others(1): Show | a0001c0001t0006g0075a0001c0002t0010g0266a0001c0007t0040g0302others(2): Show | 5 | 350 | 0.0143 | 7 | c.-31 others(16): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 35 | chr1 | TogoVar | ||||||
ABL2_chr1_179094330_179234677 | 179229741 | C | CCGCCCAG | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03130.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0042 | a0001c0001t0041g0250a0001c0001t0041g0251a0001c0001t0042g0249 | 3 | 350 | 0.0086 | 7 | c.-34 others(16): Show |
ABL2 | ENSG00000143322.22 | transcript | ENST00000502732.6 | protein_coding | 65 | chr1 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114634129 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(47): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0070a0001c0001t0001g0124a0001c0001t0001g0244others(47): Show | 50 | 256 | 0.1953 | 7 | c.244 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | AAAAATAT | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG00741.hp1 others(11): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0139a0001c0001t0142a0001c0002t0001others(8): Show | a0001c0001t0139g0101a0001c0001t0142g0108a0001c0002t0001g0077others(11): Show | 14 | 256 | 0.0547 | 7 | c.244 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | AAATATAT | intron_variant | MODIFIER | HG00438.hp2 HG01975.hp1 HG02040.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0004g0100a0001c0001t0005g0073a0001c0001t0006g0090others(7): Show | 10 | 256 | 0.0391 | 7 | c.244 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM1_chr10_114426112_114663275 | 114644306 | A | ATATATAT | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01192.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(6): Show | a0001c0001t0001g0070a0001c0001t0007g0068a0001c0001t0018g0102others(6): Show | 9 | 256 | 0.0352 | 7 | c.244 others(26): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 1/22 | chr10 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 7980941 | A | ATCTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01106.hp2 HG01433.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(10): Show | a0001c0001t0002g0032a0001c0001t0002g0137a0001c0001t0002g0230others(18): Show | 21 | 322 | 0.0652 | 7 | c.182 others(26): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 20/20 | chr4 | TogoVar | ||||||
ABLIM2_chr4_7960327_8163813 | 8039874 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01168.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0001g0098a0001c0001t0001g0181a0001c0001t0001g0282others(8): Show | 11 | 322 | 0.0342 | 7 | c.901 others(24): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 9/20 | chr4 | TogoVar | ||||||
ABRACL_chr6_139023745_139048302 | 139041531 | A | ATTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01257.hp2 HG01361.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0077a0001c0001t0001g0078others(17): Show | 36 | 448 | 0.0804 | 7 | c.62- others(22): Show |
ABRACL | ENSG00000146386.8 | transcript | ENST00000367660.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABRA_chr8_106754483_106775244 | 106758499 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0004 | a0001c0001t0002g0014a0001c0002t0001g0024a0001c0002t0004g0008others(1): Show | 6 | 440 | 0.0136 | 7 | c.*25 others(18): Show |
ABRA | ENSG00000174429.4 | transcript | ENST00000311955.4 | protein_coding | 983 | chr8 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1024024 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp1 HG01952.hp2 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0053a0001c0001t0002g0144a0001c0001t0002g0152others(8): Show | 11 | 337 | 0.0326 | 7 | c.179 others(28): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1031900 | G | GCGTCCCT | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0008a0001c0001t0021a0001c0002t0007others(5): Show | a0001c0001t0008g0007a0001c0001t0021g0284a0001c0002t0007g0295others(5): Show | 8 | 337 | 0.0237 | 7 | c.179 others(28): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34308868 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(54): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(54): Show | 57 | 246 | 0.2317 | 7 | c.883 others(26): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107360930 | A | ATTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(28): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(19): Show | a0001c0001t0001g0006a0001c0001t0002g0085a0001c0001t0015g0156others(28): Show | 31 | 186 | 0.1667 | 7 | c.113 others(28): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107445863 | T | TCCCTCTC | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01109.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0009others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(9): Show | a0001c0001t0001g0011a0002c0002t0001g0060a0002c0002t0003g0062others(9): Show | 12 | 186 | 0.0645 | 7 | c.113 others(28): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABTB3_chr12_107313434_107664642 | 107644972 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG01943.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0021a0001c0001t0024a0001c0003t0006others(6): Show | a0001c0001t0021g0025a0001c0001t0024g0056a0001c0003t0006g0148others(8): Show | 11 | 186 | 0.0591 | 7 | c.292 others(26): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACA_chr17_37079992_37411836 | 37247374 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02015.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0026a0001c0002t0001others(1): Show | a0001c0001t0016g0235a0001c0001t0026g0230a0001c0002t0001g0133others(4): Show | 7 | 299 | 0.0234 | 7 | c.231 others(24): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 18/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATATATA | intron_variant | MODIFIER | HG02074.hp2 HG02258.hp2 HG02818.hp2 others(1): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0001a0001c0003t0002a0002c0006t0005others(1): Show | a0001c0002t0001g0126a0001c0003t0002g0068a0002c0006t0005g0123others(1): Show | 4 | 308 | 0.0130 | 7 | c.-9- others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109166649 | C | CAAAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00639.hp2 others(38): Show |
a0001a0002a0007others(4): Show | a0001c0002a0001c0003a0001c0023others(21): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0002others(25): Show | a0001c0002t0001g0079a0001c0002t0001g0081a0001c0002t0001g0114others(38): Show | 41 | 308 | 0.1331 | 7 | c.654 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75742918 | C | CCTTTTCT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(39): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0003a0001c0005t0001 | a0001c0002t0001g0301a0001c0002t0001g0302a0001c0002t0001g0303others(39): Show | 42 | 364 | 0.1154 | 7 | c.599 others(24): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 7/11 | chr1 | TogoVar | ||||||
ACADSB_chr10_123004006_123063290 | 123030767 | T | TTACTAAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0043others(112): Show | 146 | 374 | 0.3904 | 7 | c.43- others(22): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACAN_chr15_88798436_88880353 | 88860072 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01069.hp1 others(49): Show |
a0009a0010a0017others(33): Show | a0009c0013a0009c0095a0009c0137others(39): Show | a0009c0013t0001a0009c0095t0001a0009c0137t0001others(40): Show | a0009c0013t0001g0073a0009c0013t0001g0307a0009c0013t0001g0308others(49): Show | 52 | 368 | 0.1413 | 7 | c.683 others(24): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195289803 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00673.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(1): Show | a0001c0002t0001g0043a0001c0002t0004g0004a0001c0002t0004g0024others(30): Show | 33 | 324 | 0.1019 | 7 | c.206 others(24): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195351129 | T | TTTTTTTG | intron_variant | MODIFIER | HG02165.hp1 HG02451.hp2 HG02818.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0017a0001c0001t0033others(2): Show | a0001c0001t0001g0258a0001c0001t0001g0260a0001c0001t0001g0270others(8): Show | 11 | 324 | 0.0340 | 7 | c.286 others(24): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195425026 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG03688.hp2 HG03942.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0028 | a0001c0001t0001g0217a0001c0001t0001g0223a0001c0001t0001g0252others(7): Show | 10 | 324 | 0.0309 | 7 | c.53+ others(24): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCCCTGC | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01074.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0023a0001c0001t0001g0030others(5): Show | 8 | 295 | 0.0271 | 7 | c.*37 others(18): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCTCTGC | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01261.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0012others(26): Show | 33 | 295 | 0.1119 | 7 | c.*37 others(18): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289848 | T | TCTCTGCC | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01081.hp2 HG01257.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0013a0001c0001t0001g0014others(21): Show | 26 | 295 | 0.0881 | 7 | c.*37 others(18): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2542 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1308546 | C | CGGGGGGG | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02056.hp1 others(16): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0029a0001c0001t0001g0166others(14): Show | 19 | 295 | 0.0644 | 7 | c.-73 others(16): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 617 | chr1 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1312198 | T | TGGGGGGG | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00735.hp1 others(16): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0006 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0030others(12): Show | 19 | 295 | 0.0644 | 7 | c.-43 others(18): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4269 | chr1 | TogoVar | ||||||
ACAT1_chr11_108116567_108152603 | 108141369 | C | CAAAAAAA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG02129.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0041a0001c0001t0001g0068a0001c0001t0001g0077others(11): Show | 14 | 386 | 0.0363 | 7 | c.731 others(22): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACAT2_chr6_159757045_159784112 | 159761866 | C | CCGCCCCG | upstream_gene_variant | MODIFIER | HG01433.hp1 HG02965.hp2 HG02970.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0050others(2): Show | 8 | 404 | 0.0198 | 7 | c.-22 others(16): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 178 | chr6 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226149529 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(21): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0007a0002c0002t0001g0130a0002c0002t0001g0143others(20): Show | 24 | 396 | 0.0606 | 7 | c.137 others(26): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
ACBD3_chr1_226139679_226191741 | 226161146 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00621.hp2 others(45): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(42): Show | 48 | 396 | 0.1212 | 7 | c.728 others(22): Show |
ACBD3 | ENSG00000182827.9 | transcript | ENST00000366812.6 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
ACBD5_chr10_27190214_27245797 | 27227009 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG00741.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0218a0001c0001t0001g0295a0001c0001t0001g0308others(33): Show | 36 | 384 | 0.0938 | 7 | c.376 others(24): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180493247 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01106.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0097others(8): Show | 11 | 334 | 0.0329 | 7 | c.288 others(22): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ACER1_chr19_6301142_6338612 | 6337645 | T | TTTCTTTC | upstream_gene_variant | MODIFIER | HG02559.hp1 HG04184.hp2 NA18977.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0035a0001c0001t0001g0134a0002c0002t0001g0113 | 3 | 396 | 0.0076 | 7 | c.-40 others(18): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 4034 | chr19 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76859314 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02451.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0026a0001c0003t0137a0001c0003t0140others(2): Show | a0001c0003t0026g0114a0001c0003t0026g0115a0001c0003t0026g0117others(4): Show | 7 | 346 | 0.0202 | 7 | c.-16 others(18): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1603 | chr11 | TogoVar | ||||||
ACER3_chr11_76855918_77031797 | 76864596 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(70): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0191a0001c0001t0002g0192a0001c0001t0002g0193others(70): Show | 73 | 346 | 0.2110 | 7 | c.103 others(24): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76924973 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01070.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0002g0131a0001c0001t0002g0140a0001c0001t0002g0142others(26): Show | 29 | 346 | 0.0838 | 7 | c.104 others(24): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76950411 | A | ATATATAT | intron_variant | MODIFIER | HG01346.hp1 NA18983.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0033 | a0001c0001t0002g0192a0001c0001t0003g0027a0001c0001t0003g0085others(1): Show | 4 | 346 | 0.0116 | 7 | c.215 others(24): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | chr11 | TogoVar |