| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PNPLA8_chr7_108465417_108531135 | 108505300 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02004.hp2 NA18992.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0301a0001c0001t0001g0337a0001c0001t0003g0119 | 3 | 390 | 0.0077 | -10 | c.120 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505344 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0290 | 1 | 390 | 0.0026 | -10 | c.120 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108505352 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034a0001c0001t0002g0038a0001c0001t0002g0045 | 3 | 390 | 0.0077 | -10 | c.120 others(29): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108518720 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02080.hp2 HG02735.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0318a0001c0001t0002g0009a0001c0001t0004g0145others(4): Show | 8 | 390 | 0.0205 | -10 | c.-84 others(27): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
| PNPLA8_chr7_108465417_108531135 | 108518750 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03486.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0013a0001c0005t0015 | a0001c0001t0001g0287a0001c0003t0013g0288a0001c0003t0013g0289others(2): Show | 5 | 390 | 0.0128 | -10 | c.-84 others(27): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
| PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00738.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0001g0131a0001c0001t0001g0133a0001c0001t0001g0135others(18): Show | 21 | 390 | 0.0539 | -10 | c.128 others(29): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | ||||||
| PNPT1_chr2_55629061_55698844 | 55694980 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01099.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0005a0001c0004t0007g0006a0001c0004t0007g0060others(4): Show | 9 | 390 | 0.0231 | -10 | c.-11 others(21): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1137 | chr2 | TogoVar | ||||||
| PNRC1_chr6_89075751_89090160 | 89086498 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp1 others(11): Show |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0001a0001c0001t0003g0001a0001c0001t0003g0004others(4): Show | 14 | 396 | 0.0354 | -10 | c.*23 others(21): Show |
PNRC1 | ENSG00000146278.11 | transcript | ENST00000336032.4 | protein_coding | 1339 | chr6 | TogoVar | ||||||
| POC1B_chr12_89414718_89531047 | 89471810 | CAGGCTGG others(3): Show |
C | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 370 | 0.0027 | -10 | c.561 others(23): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
| POC1B_chr12_89414718_89531047 | 89472277 | TAGAAAGA others(3): Show |
T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(203): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(200): Show | 206 | 370 | 0.5568 | -10 | c.453 others(22): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
| POC1B_chr12_89414718_89531047 | 89514402 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 370 | 0.0027 | -10 | c.100 others(29): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
| PODNL1_chr19_13926187_13943417 | 13934630 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG03927.hp2 |
a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0034 | 2 | 432 | 0.0046 | -10 | c.495 others(25): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 5/9 | chr19 | TogoVar | ||||||
| PODXL2_chr3_127624185_127677802 | 127633472 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02109.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0004t0002 | a0001c0001t0002g0055a0001c0001t0002g0075a0001c0001t0002g0076others(10): Show | 16 | 402 | 0.0398 | -10 | c.70+ others(25): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PODXL2_chr3_127624185_127677802 | 127673692 | CCTGGTGC others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02818.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0020a0001c0001t0001g0134a0001c0001t0001g0135others(2): Show | 6 | 402 | 0.0149 | -10 | c.*12 others(21): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 891 | chr3 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131499808 | TATATATA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0009 | a0009c0041 | a0009c0041t0002 | a0009c0041t0002g0029 | 1 | 440 | 0.0023 | -10 | c.*44 others(21): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 462 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131499812 | TATATACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 | a0012 | a0012c0055 | a0012c0055t0002 | a0012c0055t0002g0321 | 1 | 440 | 0.0023 | -10 | c.*44 others(21): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 458 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131499820 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0141 | 1 | 440 | 0.0023 | -10 | c.*44 others(21): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 450 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131499842 | CACACACA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18947.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0353 | 1 | 440 | 0.0023 | -10 | c.*44 others(21): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 428 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131523693 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01099.hp1 others(40): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0012a0003c0002others(12): Show | a0001c0001t0001a0001c0001t0003a0002c0012t0008others(15): Show | a0001c0001t0001g0145a0001c0001t0003g0137a0001c0001t0003g0138others(39): Show | 43 | 440 | 0.0977 | -10 | c.101 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| PODXL_chr7_131495271_131561628 | 131524377 | CACAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01261.hp1 HG01884.hp2 others(26): Show |
a0002a0005a0006others(3): Show | a0002c0003a0002c0012a0005c0005others(9): Show | a0002c0003t0001a0002c0003t0023a0002c0012t0042others(16): Show | a0002c0003t0001g0186a0002c0003t0001g0286a0002c0003t0001g0287others(26): Show | 29 | 440 | 0.0659 | -10 | c.101 others(29): Show |
PODXL | ENSG00000128567.17 | transcript | ENST00000378555.8 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
| POF1B_chrX_85272396_85384665 | 85360527 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0110 | 2 | 227 | 0.0088 | -10 | c.358 others(25): Show |
POF1B | ENSG00000124429.18 | transcript | ENST00000262753.9 | protein_coding | 3/16 | chrX | TogoVar | ||||||
| POFUT1_chr20_32202880_32243658 | 32208648 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011a0001c0001t0008g0079a0001c0001t0008g0080 | 6 | 322 | 0.0186 | -10 | c.124 others(25): Show |
POFUT1 | ENSG00000101346.15 | transcript | ENST00000375749.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| POGLUT1_chr3_119463963_119499708 | 119475954 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG02523.hp2 HG02683.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0015a0001c0001t0023others(1): Show | a0001c0001t0011g0009a0001c0001t0011g0028a0001c0001t0011g0126others(6): Show | 17 | 422 | 0.0403 | -10 | c.321 others(27): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| POGLUT1_chr3_119463963_119499708 | 119475991 | CACAAACA others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00735.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0005g0026a0001c0001t0005g0047a0001c0001t0005g0092others(22): Show | 43 | 422 | 0.1019 | -10 | c.321 others(27): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| POGLUT2_chr13_102779281_102803976 | 102785451 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01069.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0031others(11): Show | 21 | 436 | 0.0482 | -10 | c.149 others(27): Show |
POGLUT2 | ENSG00000134901.14 | transcript | ENST00000376004.5 | protein_coding | 9/9 | chr13 | TogoVar | ||||||
| POGZ_chr1_151397724_151464494 | 151417688 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(76): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0011others(3): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0011others(72): Show | 79 | 320 | 0.2469 | -10 | c.167 others(29): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 10/18 | chr1 | TogoVar | ||||||
| POGZ_chr1_151397724_151464494 | 151430904 | CTTTATTT others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01069.hp1 others(64): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0287others(64): Show | 67 | 320 | 0.2094 | -10 | c.284 others(23): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| POGZ_chr1_151397724_151464494 | 151435119 | CAAACTTC others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 320 | 0.0031 | -10 | c.284 others(27): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
| POLA1_chrX_24688918_25001986 | 24690841 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 197 | 0.0102 | -10 | c.-31 others(21): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 3076 | chrX | TogoVar | ||||||
| POLA1_chrX_24688918_25001986 | 24717216 | CGCCTTTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0011others(8): Show | 11 | 197 | 0.0558 | -10 | c.707 others(23): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLA1_chrX_24688918_25001986 | 24753317 | CTATTTTA others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG02145.hp1 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0014a0001c0001t0001g0034a0001c0001t0001g0120others(19): Show | 22 | 197 | 0.1117 | -10 | c.296 others(29): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLA1_chrX_24688918_25001986 | 24801920 | GGTGGGTG others(3): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 197 | 0.0051 | -10 | c.296 others(29): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG04204.hp1 NA18965.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0103a0001c0001t0001g0164others(2): Show | 5 | 197 | 0.0254 | -10 | c.296 others(29): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLA1_chrX_24688918_25001986 | 24971931 | GATTTTAT others(3): Show |
G | intron_variant | MODIFIER | HG01255.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066a0001c0001t0001g0120 | 2 | 197 | 0.0102 | -10 | c.426 others(31): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| POLA2_chr11_65256962_65303685 | 65270594 | AAGAACCT others(3): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG06807.hp2 |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0005a0005c0007t0014 | a0003c0004t0005g0218a0005c0007t0014g0219 | 2 | 284 | 0.0070 | -10 | c.354 others(27): Show |
POLA2 | ENSG00000014138.10 | transcript | ENST00000265465.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLB_chr8_42333494_42376808 | 42362258 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02071.hp1 HG02071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0165a0001c0001t0001g0167others(3): Show | 6 | 314 | 0.0191 | -10 | c.622 others(25): Show |
POLB | ENSG00000070501.12 | transcript | ENST00000265421.9 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| POLD1_chr19_50379347_50423014 | 50388825 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02572.hp2 HG03540.hp2 |
a0001a0006 | a0001c0021a0006c0018a0006c0019 | a0001c0021t0001a0006c0018t0001a0006c0019t0001 | a0001c0021t0001g0135a0006c0018t0001g0106a0006c0019t0001g0105 | 3 | 336 | 0.0089 | -10 | c.-2+ others(25): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| POLD1_chr19_50379347_50423014 | 50400211 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(52): Show |
a0002 | a0002c0002a0002c0008a0002c0016others(1): Show | a0002c0002t0001a0002c0008t0001a0002c0016t0001others(1): Show | a0002c0002t0001g0044a0002c0002t0001g0057a0002c0002t0001g0058others(52): Show | 55 | 336 | 0.1637 | -10 | c.316 others(25): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| POLD1_chr19_50379347_50423014 | 50400522 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01515.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0157 | 1 | 336 | 0.0030 | -10 | c.316 others(27): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| POLD1_chr19_50379347_50423014 | 50407543 | TTTTATTT others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0134 | 1 | 336 | 0.0030 | -10 | c.177 others(27): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| POLD3_chr11_74587582_74648076 | 74589498 | GCCACTGC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 NA19030.hp2 |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0014 | a0003c0004t0001g0081a0003c0004t0014g0080 | 2 | 400 | 0.0050 | -10 | c.-31 others(21): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3083 | chr11 | TogoVar | ||||||
| POLD3_chr11_74587582_74648076 | 74609372 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01261.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0094a0001c0002t0001g0108a0001c0002t0001g0111others(1): Show | 4 | 400 | 0.0100 | -10 | c.220 others(27): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLD3_chr11_74587582_74648076 | 74632877 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03540.hp1 HG03669.hp1 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0124a0001c0001t0003g0322a0001c0001t0003g0332 | 3 | 400 | 0.0075 | -10 | c.100 others(29): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| POLD4_chr11_67345772_67358546 | 67347633 | AATATATA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0002a0001c0001t0003g0003 | 2 | 314 | 0.0064 | -10 | c.*43 others(21): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3138 | chr11 | TogoVar | ||||||
| POLD4_chr11_67345772_67358546 | 67350468 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 5 | 314 | 0.0159 | -10 | c.*15 others(21): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 303 | chr11 | TogoVar | ||||||
| POLDIP3_chr22_42578721_42619883 | 42608428 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02897.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0022 | a0001c0001t0010g0154a0001c0001t0010g0155a0001c0001t0022g0156 | 3 | 360 | 0.0083 | -10 | c.60- others(25): Show |
POLDIP3 | ENSG00000100227.19 | transcript | ENST00000252115.10 | protein_coding | 1/8 | chr22 | TogoVar | ||||||
| POLE2_chr14_49638555_49693214 | 49670317 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 234 | 0.0043 | -10 | c.418 others(25): Show |
POLE2 | ENSG00000100479.14 | transcript | ENST00000216367.10 | protein_coding | 5/18 | chr14 | TogoVar | ||||||
| POLE3_chr9_113402235_113415675 | 113403517 | GAAAAAAA others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02602.hp1 HG03017.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0024 | 4 | 356 | 0.0112 | -10 | c.*52 others(21): Show |
POLE3 | ENSG00000148229.13 | transcript | ENST00000374171.5 | protein_coding | 3717 | chr9 | TogoVar | ||||||
| POLE4_chr2_74953643_74975128 | 74956934 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0023 | 8 | 476 | 0.0168 | -10 | c.-17 others(21): Show |
POLE4 | ENSG00000115350.12 | transcript | ENST00000483063.2 | protein_coding | 1708 | chr2 | TogoVar | ||||||
| POLE_chr12_132618762_132692342 | 132628644 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02015.hp2 HG02630.hp1 others(10): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0026a0001c0035others(3): Show | a0001c0002t0002a0001c0026t0002a0001c0035t0011others(3): Show | a0001c0002t0002g0004a0001c0002t0002g0221a0001c0002t0002g0231others(8): Show | 13 | 292 | 0.0445 | -10 | c.633 others(29): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 45/48 | chr12 | TogoVar |