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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7_chr3_63858867_64008462 | 63925603 | CAT | C | intron_variant | MODIFIER | HG01070.hp2 HG01192.hp2 HG02486.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0042a0002c0002t0043others(2): Show | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(4): Show | 7 | 300 | 0.0233 | -2 | c.394 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63940285 | TCA | T | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01070.hp1 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0054a0001c0001t0063others(6): Show | a0001c0001t0001g0036a0001c0001t0001g0038a0001c0001t0001g0041others(13): Show | 16 | 300 | 0.0533 | -2 | c.395 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63957270 | CTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(91): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0003others(9): Show | a0001c0001t0002a0001c0001t0005a0002c0002t0002others(22): Show | a0001c0001t0002g0225a0001c0001t0005g0213a0001c0001t0005g0215others(90): Show | 94 | 300 | 0.3133 | -2 | c.499 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63964073 | AAC | A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(66): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0001g0042a0001c0001t0001g0043a0001c0001t0001g0044others(66): Show | 69 | 300 | 0.2300 | -2 | c.499 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63964181 | CAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp1 HG02965.hp1 others(4): Show |
a0009a0014a0022 | a0009c0009a0014c0018a0022c0032 | a0009c0009t0020a0009c0009t0049a0009c0009t0067others(2): Show | a0009c0009t0020g0154a0009c0009t0020g0156a0009c0009t0020g0157others(4): Show | 7 | 300 | 0.0233 | -2 | c.499 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63976850 | CAT | C | intron_variant | MODIFIER | NA18975.hp2 NA19065.hp2 NA19091.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0158a0003c0004t0003g0174a0003c0004t0003g0206 | 3 | 300 | 0.0100 | -2 | c.500 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63982623 | AGT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(72): Show |
a0001a0002a0004others(8): Show | a0001c0001a0002c0002a0002c0003others(11): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(22): Show | a0001c0001t0002g0225a0001c0001t0005g0213a0001c0001t0005g0215others(72): Show | 75 | 300 | 0.2500 | -2 | c.101 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63993275 | ATT | A | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0007a0002c0002t0038a0002c0003t0002others(4): Show | a0001c0001t0007g0072a0002c0002t0038g0223a0002c0003t0002g0279others(4): Show | 7 | 300 | 0.0233 | -2 | c.168 others(21): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 63996617 | TAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(82): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0003a0003c0004others(11): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0013others(26): Show | a0002c0002t0002g0068a0002c0002t0002g0119a0002c0002t0002g0120others(82): Show | 85 | 300 | 0.2833 | -2 | c.266 others(19): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATXN7_chr3_63858867_64008462 | 64000218 | ATT | A | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG02486.hp2 HG02647.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0042a0002c0002t0043others(1): Show | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(3): Show | 6 | 300 | 0.0200 | -2 | c.*76 others(11): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 13/13 | 761 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ATXN7_chr3_63858867_64008462 | 64002516 | CGT | C | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG01192.hp2 others(14): Show |
a0002a0004a0010others(2): Show | a0002c0002a0004c0006a0010c0011others(2): Show | a0002c0002t0018a0002c0002t0042a0002c0002t0043others(8): Show | a0002c0002t0018g0140a0002c0002t0018g0143a0002c0002t0018g0144others(14): Show | 17 | 300 | 0.0567 | -2 | c.*30 others(13): Show |
ATXN7 | ENSG00000163635.20 | transcript | ENST00000674280.1 | protein_coding | 13/13 | 3058 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
AUH_chr9_91208823_91366918 | 91212152 | GAA | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(64): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0019others(63): Show | 67 | 358 | 0.1872 | -2 | c.*21 others(13): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 1670 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91216439 | GAC | G | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 HG02976.hp2 others(10): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(10): Show | 13 | 358 | 0.0363 | -2 | c.895 others(17): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91249292 | CAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0065others(41): Show | 46 | 358 | 0.1285 | -2 | c.656 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91291922 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(189): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(182): Show | 192 | 358 | 0.5363 | -2 | c.655 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91294980 | CAT | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0153 | 3 | 358 | 0.0084 | -2 | c.655 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91302194 | AGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(109): Show | 115 | 358 | 0.3212 | -2 | c.506 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 4/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91314505 | AAC | A | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG02257.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0277a0001c0001t0001g0279a0001c0001t0001g0280others(8): Show | 11 | 358 | 0.0307 | -2 | c.505 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 4/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91338408 | CAG | C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0280a0001c0001t0001g0281others(9): Show | 12 | 358 | 0.0335 | -2 | c.419 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91339073 | AAT | A | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0266a0001c0002t0001g0267others(2): Show | 5 | 358 | 0.0140 | -2 | c.419 others(21): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91349679 | GAC | G | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(172): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(167): Show | 175 | 358 | 0.4888 | -2 | c.418 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUH_chr9_91208823_91366918 | 91349703 | CAG | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0008others(58): Show | 64 | 358 | 0.1788 | -2 | c.418 others(19): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25834615 | CAA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(286): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(167): Show | 289 | 352 | 0.8210 | -2 | c.*37 others(11): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 3/3 | 376 | chr1 | TogoVar | |||||
AUNIP_chr1_25829006_25864457 | 25843172 | CAA | C | intron_variant | MODIFIER | HG01099.hp1 HG02055.hp1 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0014a0002c0002t0004 | a0001c0001t0006g0207a0001c0001t0006g0208a0001c0001t0006g0209others(7): Show | 12 | 352 | 0.0341 | -2 | c.79- others(17): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25843594 | GAA | G | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02145.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0016a0001c0001t0003g0033a0001c0001t0003g0034others(13): Show | 23 | 352 | 0.0653 | -2 | c.79- others(17): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25846416 | CAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01099.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0136a0001c0001t0001g0173a0001c0001t0004g0009others(10): Show | 19 | 352 | 0.0540 | -2 | c.79- others(17): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25848483 | CAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0011 | a0001c0001t0005g0008a0001c0001t0005g0195a0001c0001t0005g0197others(9): Show | 15 | 352 | 0.0426 | -2 | c.78+ others(19): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25854609 | AAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0207a0001c0001t0006g0208a0001c0001t0006g0209others(3): Show | 6 | 352 | 0.0171 | -2 | c.78+ others(17): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25860896 | TTA | T | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02886.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0217a0002c0002t0004g0071a0002c0002t0004g0073 | 3 | 352 | 0.0085 | -2 | c.-15 others(13): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1440 | chr1 | TogoVar | ||||||
AUNIP_chr1_25829006_25864457 | 25860898 | ATG | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00621.hp1 others(51): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(36): Show | 54 | 352 | 0.1534 | -2 | c.-15 others(13): Show |
AUNIP | ENSG00000127423.11 | transcript | ENST00000374298.4 | protein_coding | 1442 | chr1 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1369035 | CAA | C | downstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004 | 8 | 358 | 0.0224 | -2 | c.*47 others(13): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 4700 | chr1 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1369476 | CTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(171): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 174 | 358 | 0.4860 | -2 | c.*43 others(13): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 4259 | chr1 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1372904 | GGA | G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 358 | 0.0112 | -2 | c.*89 others(11): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 831 | chr1 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1375678 | TAA | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(194): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(8): Show | 197 | 358 | 0.5503 | -2 | c.-56 others(11): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 472 | chr1 | TogoVar | ||||||
AURKAIP1_chr1_1368736_1380207 | 1378484 | ATT | A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01106.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(2): Show | 24 | 358 | 0.0670 | -2 | c.-33 others(13): Show |
AURKAIP1 | ENSG00000175756.14 | transcript | ENST00000338338.10 | protein_coding | 3278 | chr1 | TogoVar | ||||||
AURKA_chr20_56364390_56397215 | 56369619 | GAC | G | 3_prime_UTR_variant | MODIFIER | HG02647.hp2 HG02886.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049a0001c0001t0006g0196 | 3 | 384 | 0.0078 | -2 | c.*53 others(11): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 9/9 | 537 | chr20 | TogoVar | |||||
AURKA_chr20_56364390_56397215 | 56372170 | GGT | G | intron_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0252a0001c0001t0002g0182a0001c0001t0002g0199others(1): Show | 4 | 384 | 0.0104 | -2 | c.854 others(19): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 7/8 | chr20 | TogoVar | ||||||
AURKA_chr20_56364390_56397215 | 56372533 | TAA | T | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01167.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0086a0001c0001t0001g0165a0001c0001t0001g0215others(13): Show | 17 | 384 | 0.0443 | -2 | c.854 others(17): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 7/8 | chr20 | TogoVar | ||||||
AURKA_chr20_56364390_56397215 | 56374016 | TAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(104): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0095a0001c0001t0001g0099others(73): Show | 107 | 384 | 0.2787 | -2 | c.706 others(17): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 6/8 | chr20 | TogoVar | ||||||
AURKA_chr20_56364390_56397215 | 56388942 | CCT | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02723.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0134a0001c0001t0001g0178others(1): Show | 4 | 384 | 0.0104 | -2 | c.-5- others(15): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
AURKA_chr20_56364390_56397215 | 56393159 | TAC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(206): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0021others(131): Show | 209 | 384 | 0.5443 | -2 | c.-99 others(11): Show |
AURKA | ENSG00000087586.18 | transcript | ENST00000395915.8 | protein_coding | 945 | chr20 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8203228 | GAA | G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG00741.hp2 others(18): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006a0001c0003t0001g0031a0001c0003t0001g0041others(2): Show | 21 | 428 | 0.0491 | -2 | c.*16 others(13): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 1505 | chr17 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8203533 | ACT | A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0048 | 5 | 428 | 0.0117 | -2 | c.*13 others(13): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 1200 | chr17 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8206153 | CAG | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0015others(22): Show | 87 | 428 | 0.2033 | -2 | c.686 others(17): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 7/8 | chr17 | TogoVar | ||||||
AURKB_chr17_8199734_8215575 | 8215557 | CAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(162): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0008others(52): Show | 165 | 428 | 0.3855 | -2 | c.-50 others(13): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 4983 | chr17 | TogoVar | ||||||
AURKC_chr19_57226023_57240548 | 57231581 | CCT | C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0011 | 4 | 410 | 0.0098 | -2 | c.59- others(15): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AURKC_chr19_57226023_57240548 | 57234053 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0002g0002others(7): Show | 58 | 410 | 0.1415 | -2 | c.584 others(17): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AURKC_chr19_57226023_57240548 | 57235695 | ACT | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02717.hp2 HG02886.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0024a0001c0005t0001g0043 | 3 | 410 | 0.0073 | -2 | c.*27 others(11): Show |
AURKC | ENSG00000105146.14 | transcript | ENST00000302804.12 | protein_coding | 148 | chr19 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 69600408 | CGT | C | intron_variant | MODIFIER | HG01081.hp1 HG01175.hp1 HG01243.hp2 others(9): Show |
a0001a0003a0005 | a0001c0001a0001c0007a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0030a0001c0001t0001g0033a0001c0001t0001g0036others(9): Show | 12 | 76 | 0.1579 | -2 | c.309 others(17): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AUTS2_chr7_69593475_70798506 | 69602010 | ATG | A | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0008a0001c0004t0012 | a0001c0003t0008g0069a0001c0004t0012g0024 | 2 | 76 | 0.0263 | -2 | c.309 others(19): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |