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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01433.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0003a0002c0002t0002g0016a0002c0002t0002g0027others(2): Show | 17 | 434 | 0.0392 | 9 | c.-24 others(20): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50990344 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00735.hp1 others(68): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(5): Show | a0001c0001t0001g0279a0001c0001t0005g0301a0001c0001t0005g0306others(67): Show | 71 | 392 | 0.1811 | 9 | c.209 others(28): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0020others(3): Show | a0001c0001t0004g0003a0001c0001t0004g0013a0001c0001t0008g0003others(4): Show | 14 | 412 | 0.0340 | 9 | c.*73 others(20): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3831679 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(48): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0036others(16): Show | 51 | 412 | 0.1238 | 9 | c.*73 others(20): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2842 | chr20 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653689 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03017.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0269a0001c0001t0001g0270a0001c0001t0009g0079 | 3 | 366 | 0.0082 | 9 | c.526 others(26): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0259a0001c0001t0001g0288a0001c0001t0039g0008 | 3 | 366 | 0.0082 | 9 | c.526 others(26): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | ||||||
APAF1_chr12_98640290_98740433 | 98665278 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0176a0001c0001t0004g0182a0001c0001t0004g0183others(5): Show | 8 | 366 | 0.0219 | 9 | c.956 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
APBA1_chr9_69422532_69677371 | 69540122 | G | GCAACAAC others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01361.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(5): Show | a0001c0001t0001g0077a0001c0001t0001g0109a0001c0001t0001g0110others(25): Show | 28 | 210 | 0.1333 | 9 | c.-69 others(28): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | ||||||
APBA2_chr15_28880974_29123315 | 28908315 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 HG03486.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0039a0002c0002t0003others(4): Show | a0001c0001t0002g0006a0001c0001t0039g0188a0002c0002t0003g0204others(4): Show | 7 | 204 | 0.0343 | 9 | c.-20 others(30): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTCCCTCC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0063others(15): Show | 18 | 204 | 0.0882 | 9 | c.951 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBA2_chr15_28880974_29123315 | 29056610 | C | CTTCCTTC others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02129.hp2 HG02280.hp2 others(12): Show |
a0002a0003a0005 | a0002c0002a0002c0003a0003c0008others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0007others(9): Show | a0002c0002t0003g0103a0002c0002t0003g0143a0002c0002t0006g0003others(12): Show | 15 | 204 | 0.0735 | 9 | c.951 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
APBB1IP_chr10_26433341_26572803 | 26505753 | A | ACCCATAT others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0014a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0106a0001c0001t0001g0112others(18): Show | 21 | 358 | 0.0587 | 9 | c.531 others(26): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
APBB2_chr4_40805027_41219542 | 40881528 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02258.hp1 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0038a0001c0003t0001a0001c0004t0003others(2): Show | a0001c0002t0038g0051a0001c0003t0001g0159a0001c0004t0003g0111others(2): Show | 5 | 192 | 0.0260 | 9 | c.152 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40972445 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01169.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0003a0001c0004t0004a0002c0001t0005others(1): Show | a0001c0004t0003g0043a0001c0004t0004g0044a0001c0004t0004g0045others(4): Show | 7 | 192 | 0.0365 | 9 | c.836 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40991010 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01517.hp2 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0003a0001c0003t0004a0002c0001t0001others(4): Show | a0001c0003t0003g0138a0001c0003t0004g0139a0002c0001t0001g0117others(6): Show | 9 | 192 | 0.0469 | 9 | c.835 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159907 | A | AAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02738.hp2 NA19066.hp2 |
a0001a0002 | a0001c0003a0001c0004a0002c0001 | a0001c0003t0001a0001c0004t0020a0002c0001t0004 | a0001c0003t0001g0038a0001c0004t0020g0036a0002c0001t0004g0191 | 3 | 192 | 0.0156 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159910 | G | GAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0006 | a0001c0002t0006a0001c0003t0055a0003c0006t0015 | a0001c0002t0006g0058a0001c0003t0055g0080a0003c0006t0015g0081others(2): Show | 5 | 192 | 0.0260 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159940 | G | GAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01516.hp1 HG01517.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0004a0001c0002t0007others(2): Show | a0001c0002t0001g0060a0001c0002t0004g0170a0001c0002t0007g0171others(3): Show | 6 | 192 | 0.0313 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159955 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03209.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0017a0001c0004t0004others(5): Show | a0001c0002t0002g0104a0001c0002t0017g0094a0001c0002t0017g0095others(6): Show | 9 | 192 | 0.0469 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159961 | G | GAGAAGAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG03139.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0004a0001c0003t0013a0002c0001t0001others(1): Show | a0001c0002t0004g0028a0001c0003t0013g0024a0002c0001t0001g0065others(1): Show | 4 | 192 | 0.0208 | 9 | c.-41 others(30): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
APC2_chr19_1445121_1478244 | 1457895 | C | CGGGGGGG others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00609.hp1 others(55): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0044others(45): Show | 58 | 350 | 0.1657 | 9 | c.120 others(24): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
APC_chr5_112732885_112851239 | 112836165 | T | TTCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG01109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0219a0001c0001t0001g0225others(11): Show | 14 | 294 | 0.0476 | 9 | c.195 others(28): Show |
APC | ENSG00000134982.18 | transcript | ENST00000257430.9 | protein_coding | 15/15 | chr5 | TogoVar | ||||||
APEH_chr3_49669351_49688971 | 49673087 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02965.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 10 | 318 | 0.0315 | 9 | c.-13 others(20): Show |
APEH | ENSG00000164062.13 | transcript | ENST00000296456.10 | protein_coding | 1263 | chr3 | TogoVar | ||||||
APLNR_chr11_57228591_57242250 | 57239109 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00621.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(9): Show | 72 | 430 | 0.1674 | 9 | c.-21 others(20): Show |
APLNR | ENSG00000134817.12 | transcript | ENST00000606794.2 | protein_coding | 1860 | chr11 | TogoVar | ||||||
APLP1_chr19_35863574_35884792 | 35864176 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(32): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0005t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(12): Show | 35 | 256 | 0.1367 | 9 | c.-44 others(20): Show |
APLP1 | ENSG00000105290.13 | transcript | ENST00000221891.9 | protein_coding | 4397 | chr19 | TogoVar | ||||||
APOA1_chr11_116830751_116842622 | 116842618 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02615.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 6 | 448 | 0.0134 | 9 | c.-50 others(20): Show |
APOA1 | ENSG00000118137.10 | transcript | ENST00000236850.5 | protein_coding | 4997 | chr11 | TogoVar | ||||||
APOA4_chr11_116815700_116828304 | 116818631 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02809.hp2 NA18993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0001 | 6 | 462 | 0.0130 | 9 | c.*22 others(20): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2068 | chr11 | TogoVar | ||||||
APOBEC1_chr12_7644400_7670908 | 7647499 | T | TTTATTTA others(2): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 HG03579.hp1 HG06807.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0371a0002c0001t0002g0399a0002c0001t0002g0400others(1): Show | 4 | 432 | 0.0093 | 9 | c.*20 others(20): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 1900 | chr12 | TogoVar | ||||||
APOBEC3B_chr22_38977347_38997779 | 38991801 | G | GGCAGGGA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02135.hp1 NA18940.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0027a0001c0001t0001g0065others(6): Show | 11 | 354 | 0.0311 | 9 | c.101 others(26): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
APOBEC3C_chr22_39009257_39025352 | 39019935 | A | ACCTGGGA others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02647.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0029a0002c0002t0037a0002c0002t0066others(2): Show | a0002c0002t0029g0016a0002c0002t0037g0020a0002c0002t0066g0050others(2): Show | 8 | 460 | 0.0174 | 9 | c.*15 others(20): Show |
APOBEC3C | ENSG00000244509.4 | transcript | ENST00000361441.5 | protein_coding | 4/4 | 1549 | chr22 | TogoVar | |||||
APOBEC3D_chr22_39016127_39038277 | 39019935 | A | ACCTGGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0177a0001c0001t0004g0176a0001c0001t0010g0053others(3): Show | 8 | 458 | 0.0175 | 9 | c.-15 others(20): Show |
APOBEC3D | ENSG00000243811.12 | transcript | ENST00000216099.13 | protein_coding | 1191 | chr22 | TogoVar | ||||||
APOBEC4_chr1_183641275_183658316 | 183642222 | C | CTATTACG others(2): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02056.hp1 HG02129.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0014a0002c0002t0015 | a0002c0002t0001g0008a0002c0002t0014g0036a0002c0002t0015g0037 | 9 | 378 | 0.0238 | 9 | c.*54 others(20): Show |
APOBEC4 | ENSG00000173627.8 | transcript | ENST00000308641.6 | protein_coding | 4052 | chr1 | TogoVar | ||||||
APOC1_chr19_44909608_44924346 | 44916137 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp1 others(112): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0009others(45): Show | 115 | 436 | 0.2638 | 9 | c.59- others(20): Show |
APOC1 | ENSG00000130208.10 | transcript | ENST00000592535.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
APOD_chr3_195563705_195588940 | 195586554 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00733.hp1 others(17): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0053others(12): Show | 20 | 438 | 0.0457 | 9 | c.-27 others(20): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 2615 | chr3 | TogoVar | ||||||
APOH_chr17_66207033_66234415 | 66221416 | G | GAAGGAAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00673.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0089a0001c0001t0001g0306a0001c0001t0001g0341others(32): Show | 39 | 386 | 0.1010 | 9 | c.416 others(24): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
APOL5_chr22_35712872_35734483 | 35717738 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01978.hp1 HG02273.hp1 others(5): Show |
a0001a0003a0013 | a0001c0004a0003c0003a0013c0014 | a0001c0004t0001a0003c0003t0001a0013c0014t0001 | a0001c0004t0001g0008a0003c0003t0001g0003a0003c0003t0001g0114others(1): Show | 8 | 401 | 0.0200 | 9 | c.-13 others(18): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 133 | chr22 | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85008535 | T | TTTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0223 | 1 | 256 | 0.0039 | 9 | c.15+ others(24): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOOL_chrX_84998877_85098315 | 85088316 | G | GTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0050 | a0001c0001t0014g0173a0001c0001t0014g0199a0001c0001t0014g0201others(1): Show | 4 | 256 | 0.0156 | 9 | c.*65 others(18): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 668 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
APOO_chrX_23828353_23912938 | 23829567 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 269 | 0.0037 | 9 | c.*40 others(20): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 3785 | chrX | TogoVar | ||||||
APOO_chrX_23828353_23912938 | 23829569 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0054a0001c0001t0002g0201 | 2 | 269 | 0.0074 | 9 | c.*40 others(20): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 3783 | chrX | TogoVar | ||||||
APPBP2_chr17_60438158_60531242 | 60505676 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0009a0002c0002t0014a0002c0002t0019others(3): Show | a0002c0002t0009g0012a0002c0002t0014g0019a0002c0002t0014g0020others(4): Show | 7 | 144 | 0.0486 | 9 | c.139 others(26): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105186622 | T | TATGATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01884.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0016others(4): Show | a0001c0001t0003g0194a0001c0001t0003g0198a0001c0001t0007g0220others(15): Show | 18 | 392 | 0.0459 | 9 | c.163 others(28): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105186622 | T | TATGATAT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp1 HG00609.hp2 others(73): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0014 | a0001c0001t0003a0001c0001t0009a0001c0001t0014others(4): Show | a0001c0001t0003g0018a0001c0001t0003g0019a0001c0001t0003g0049others(71): Show | 76 | 392 | 0.1939 | 9 | c.163 others(28): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105186699 | C | CATATCAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(303): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(26): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(281): Show | 306 | 392 | 0.7806 | 9 | c.163 others(28): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
AQP11_chr11_77584953_77615356 | 77588441 | T | TTTGTTGT others(2): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA18966.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0136others(1): Show | 4 | 432 | 0.0093 | 9 | c.-15 others(20): Show |
AQP11 | ENSG00000178301.4 | transcript | ENST00000313578.4 | protein_coding | 1511 | chr11 | TogoVar | ||||||
AQP7_chr9_33378191_33407568 | 33378848 | G | GTTGTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01884.hp2 others(21): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0351a0001c0001t0003g0041a0001c0001t0003g0076others(19): Show | 24 | 438 | 0.0548 | 9 | c.*61 others(20): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 4342 | chr9 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34973263 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG02486.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0223a0001c0001t0002g0224a0001c0001t0062g0189 | 3 | 312 | 0.0096 | 9 | c.-36 others(20): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 3522 | chr15 | TogoVar | ||||||
ARAF_chrX_47556205_47576908 | 47559819 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0065 | 2 | 318 | 0.0063 | 9 | c.-14 others(20): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 1385 | chrX | TogoVar | ||||||
ARAP1_chr11_72680069_72757408 | 72703415 | G | GGGGGGGG others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01175.hp2 others(19): Show |
a0001a0003 | a0001c0004a0001c0007a0003c0005 | a0001c0004t0001a0001c0007t0001a0003c0005t0001 | a0001c0004t0001g0032a0001c0004t0001g0041a0001c0004t0001g0044others(19): Show | 22 | 354 | 0.0622 | 9 | c.199 others(26): Show |
ARAP1 | ENSG00000186635.16 | transcript | ENST00000393609.8 | protein_coding | 14/34 | chr11 | TogoVar | ||||||
ARAP2_chr4_36061004_36249514 | 36218582 | C | CCAATTCA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03453.hp2 NA19030.hp1 |
a0001a0015 | a0001c0001a0015c0017 | a0001c0001t0002a0001c0001t0004a0015c0017t0002 | a0001c0001t0002g0151a0001c0001t0004g0152a0015c0017t0002g0061 | 3 | 278 | 0.0108 | 9 | c.906 others(26): Show |
ARAP2 | ENSG00000047365.13 | transcript | ENST00000303965.9 | protein_coding | 2/32 | chr4 | TogoVar |