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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMOT_chrX_112769877_112845831 | 112831445 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(5): Show | a0001c0001t0001g0204a0001c0001t0004g0139a0001c0001t0004g0177others(7): Show | 11 | 270 | 0.0407 | -8 | c.-21 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 2/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112837160 | AAAAGTAA others(1): Show |
A | intron_variant | MODIFIER | NA18990.hp1 NA19003.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0006g0166 | 3 | 270 | 0.0111 | -8 | c.-28 others(27): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 1/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112845493 | CACACACA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(147): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0032others(142): Show | 150 | 270 | 0.5556 | -8 | c.-53 others(19): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 4663 | chrX | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114677799 | CTCCTTCC others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01168.hp2 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(43): Show | 75 | 358 | 0.2095 | -8 | c.122 others(25): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114693117 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01167.hp2 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0060a0001c0001t0001g0150others(8): Show | 12 | 358 | 0.0335 | -8 | c.34+ others(21): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10504115 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(120): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0028others(107): Show | 123 | 390 | 0.3154 | -8 | c.201 others(25): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMPH_chr7_38378704_38636373 | 38390961 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG01258.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0068a0001c0001t0001g0135a0001c0001t0001g0202others(13): Show | 16 | 288 | 0.0556 | -8 | c.187 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406731 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(31): Show |
a0001 | a0001c0001a0001c0012a0001c0016 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0026a0001c0001t0001g0056others(31): Show | 34 | 288 | 0.1181 | -8 | c.139 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407076 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01515.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0048a0001c0001t0001g0055others(12): Show | 15 | 288 | 0.0521 | -8 | c.139 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38422554 | GTATCTAT others(1): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02300.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0002t0002a0001c0003t0002 | a0001c0001t0006g0277a0001c0002t0002g0093a0001c0002t0002g0094others(2): Show | 5 | 288 | 0.0174 | -8 | c.121 others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 15/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38432587 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG02559.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079a0001c0001t0003g0122a0001c0001t0003g0148others(2): Show | 5 | 288 | 0.0174 | -8 | c.113 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38478059 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG01975.hp1 HG02056.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0001t0003g0236a0001c0002t0002g0233a0001c0003t0001g0284others(1): Show | 4 | 288 | 0.0139 | -8 | c.397 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 5/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38501766 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0026others(157): Show | 160 | 288 | 0.5556 | -8 | c.205 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 3/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38524608 | TTGGAGGC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp1 others(39): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0033a0001c0001t0001g0067others(39): Show | 42 | 288 | 0.1458 | -8 | c.150 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525273 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01256.hp1 HG01258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0200others(5): Show | 8 | 288 | 0.0278 | -8 | c.150 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525275 | TATAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01358.hp1 HG01981.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0082a0001c0001t0001g0098a0001c0001t0001g0217others(10): Show | 13 | 288 | 0.0451 | -8 | c.150 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525277 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0040a0001c0001t0001g0055others(18): Show | 21 | 288 | 0.0729 | -8 | c.150 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38543114 | AGGCATGG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01496.hp1 others(15): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0124a0001c0001t0003g0030a0001c0001t0004g0009others(15): Show | 18 | 288 | 0.0625 | -8 | c.70- others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38620548 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp2 HG02615.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0006others(1): Show | a0001c0001t0004a0001c0009t0006a0003c0006t0004others(1): Show | a0001c0001t0004g0045a0001c0001t0004g0276a0001c0009t0006g0036others(3): Show | 6 | 288 | 0.0208 | -8 | c.69+ others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70516404 | GTATATAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(54): Show |
a0003a0007 | a0003c0004a0003c0009a0007c0008 | a0003c0004t0001a0003c0009t0001a0007c0008t0001 | a0003c0004t0001g0003a0003c0004t0001g0009a0003c0004t0001g0016others(15): Show | 57 | 458 | 0.1245 | -8 | c.-22 others(19): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2164 | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70535061 | AAAATAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(80): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0037others(29): Show | 83 | 458 | 0.1812 | -8 | c.*25 others(19): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2319 | chr4 | TogoVar | ||||||
AMY2A_chr1_103612427_103630780 | 103612754 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG01952.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0002t0001g0003 | 7 | 312 | 0.0224 | -8 | c.-46 others(19): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 4672 | chr1 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145036995 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00741.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(42): Show | 45 | 336 | 0.1339 | -8 | c.327 others(27): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054604 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01256.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0031others(22): Show | 25 | 336 | 0.0744 | -8 | c.327 others(25): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145054634 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG01884.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0321others(1): Show | 4 | 336 | 0.0119 | -8 | c.327 others(25): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC16_chr10_72211012_72240860 | 72222419 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0260a0001c0001t0001g0265a0001c0001t0002g0001others(79): Show | 89 | 352 | 0.2528 | -8 | c.-27 others(25): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC1_chr2_111762640_111889193 | 111770201 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp2 others(79): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0005others(4): Show | a0001c0002t0004a0001c0003t0004a0001c0003t0018others(8): Show | a0001c0002t0004g0195a0001c0003t0004g0262a0001c0003t0004g0263others(79): Show | 82 | 370 | 0.2216 | -8 | c.572 others(25): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 47/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846534 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(18): Show |
a0001a0007 | a0001c0001a0001c0006a0001c0012others(1): Show | a0001c0001t0003a0001c0006t0005a0001c0006t0013others(3): Show | a0001c0001t0003g0349a0001c0006t0005g0002a0001c0006t0005g0006others(17): Show | 21 | 370 | 0.0568 | -8 | c.185 others(25): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111846553 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0003a0001c0002t0002a0001c0014t0002 | a0001c0001t0003g0348a0001c0002t0002g0204a0001c0002t0002g0205others(4): Show | 7 | 370 | 0.0189 | -8 | c.185 others(25): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | ||||||
ANAPC4_chr4_25372263_25423498 | 25410999 | GTGAATGA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0028others(41): Show | 71 | 456 | 0.1557 | -8 | c.152 others(27): Show |
ANAPC4 | ENSG00000053900.11 | transcript | ENST00000315368.8 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANAPC7_chr12_110367900_110408708 | 110387255 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02976.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014 | 3 | 298 | 0.0101 | -8 | c.674 others(23): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110387426 | AGAGAGAC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0244a0001c0001t0001g0246a0001c0001t0004g0295others(2): Show | 5 | 298 | 0.0168 | -8 | c.674 others(23): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 5/10 | chr12 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107268406 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | NA18991.hp2 NA19010.hp2 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0089others(1): Show | 4 | 292 | 0.0137 | -8 | c.120 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107282553 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02735.hp1 HG03490.hp2 NA18939.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0073others(5): Show | 8 | 292 | 0.0274 | -8 | c.120 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107299391 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01074.hp1 others(44): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0084a0001c0001t0001g0125a0001c0001t0002g0099others(43): Show | 47 | 292 | 0.1610 | -8 | c.936 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107299744 | TATATCTA others(1): Show |
T | intron_variant | MODIFIER | HG02004.hp2 HG02258.hp1 HG02559.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0084a0001c0001t0001g0125a0001c0001t0002g0099others(12): Show | 16 | 292 | 0.0548 | -8 | c.936 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107333970 | AAAGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0084a0001c0001t0001g0125a0001c0001t0004g0001others(3): Show | 7 | 292 | 0.0240 | -8 | c.575 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107342782 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01192.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0151a0001c0001t0001g0164a0001c0001t0001g0193others(10): Show | 13 | 292 | 0.0445 | -8 | c.453 others(25): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370187 | GAAAGAAA others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(56): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0026a0001c0001t0001g0036others(56): Show | 59 | 292 | 0.2021 | -8 | c.298 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370340 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02004.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0072a0001c0001t0004g0091a0001c0001t0004g0221others(6): Show | 9 | 292 | 0.0308 | -8 | c.298 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107370700 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0112a0001c0001t0001g0120others(27): Show | 30 | 292 | 0.1027 | -8 | c.298 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107409938 | AATCCATC others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG00741.hp1 others(52): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0051others(52): Show | 55 | 292 | 0.1884 | -8 | c.298 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107423827 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00621.hp1 others(47): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0112a0001c0001t0001g0120others(46): Show | 50 | 292 | 0.1712 | -8 | c.297 others(27): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6499066 | TTAAATAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02602.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0002a0001c0007a0001c0009others(1): Show | a0001c0002t0055a0001c0007t0039a0001c0007t0078others(2): Show | a0001c0002t0055g0170a0001c0007t0039g0084a0001c0007t0078g0334others(3): Show | 6 | 336 | 0.0179 | -8 | c.*40 others(19): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 565 | chr8 | TogoVar | ||||||
ANGPT2_chr8_6494632_6568245 | 6541030 | TGCCGAGG others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp1 others(124): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(51): Show | a0001c0001t0001g0045a0001c0001t0001g0052a0001c0001t0001g0069others(124): Show | 127 | 336 | 0.3780 | -8 | c.289 others(25): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178856190 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02615.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279a0001c0001t0003g0282a0001c0001t0003g0285 | 3 | 424 | 0.0071 | -8 | c.824 others(25): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178862593 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0094others(7): Show | 12 | 424 | 0.0283 | -8 | c.823 others(25): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8361661 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG01934.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0003c0003t0001others(1): Show | a0001c0001t0002g0069a0001c0001t0004g0011a0003c0003t0001g0019others(5): Show | 19 | 408 | 0.0466 | -8 | c.-26 others(19): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 2493 | chr19 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101889124 | TAAGAAAG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG02040.hp2 HG02071.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0055others(14): Show | 17 | 422 | 0.0403 | -8 | c.*21 others(19): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1549 | chr11 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101896156 | ATATTTAT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00735.hp2 others(28): Show |
a0001a0011 | a0001c0001a0011c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0058a0001c0001t0001g0059others(24): Show | 31 | 422 | 0.0735 | -8 | c.662 others(25): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 7/8 | chr11 | TogoVar |