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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NMNAT2_chr1_183243237_183423380 | 183389796 | GAAAGAAA others(48): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0061 | 1 | 258 | 0.0039 | -55 | c.85+ others(72): Show |
NMNAT2 | ENSG00000157064.11 | transcript | ENST00000287713.7 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
NOL12_chr22_37681343_37698474 | 37694185 | TGGAGGTT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 424 | 0.0024 | -55 | c.*28 others(66): Show |
NOL12 | ENSG00000273899.5 | transcript | ENST00000359114.9 | protein_coding | 712 | chr22 | TogoVar | ||||||
NOL4L_chr20_32438059_32590333 | 32494920 | CAAAAGCA others(48): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02895.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0009a0001c0003t0028 | a0001c0001t0013g0060a0001c0001t0013g0062a0001c0001t0013g0167others(3): Show | 6 | 196 | 0.0306 | -55 | c.699 others(74): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 4/10 | chr20 | TogoVar | ||||||
NOTCH3_chr19_15154038_15205995 | 15176437 | ACAGGCGT others(48): Show |
A | intron_variant | MODIFIER | NA19086.hp1 | a0020 | a0020c0056 | a0020c0056t0004 | a0020c0056t0004g0089 | 1 | 340 | 0.0029 | -55 | c.440 others(74): Show |
NOTCH3 | ENSG00000074181.9 | transcript | ENST00000263388.7 | protein_coding | 24/32 | chr19 | TogoVar | ||||||
NOX4_chr11_89319353_89496375 | 89438812 | TATATATT others(48): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0278 | 1 | 288 | 0.0035 | -55 | c.475 others(72): Show |
NOX4 | ENSG00000086991.13 | transcript | ENST00000263317.9 | protein_coding | 6/17 | chr11 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5883262 | ACTCCGGG others(48): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 | 1 | 208 | 0.0048 | -55 | c.248 others(74): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 18/29 | chr1 | TogoVar | ||||||
NPIPA2_chr16_14737533_14770462 | 14738287 | GGGGGGCT others(48): Show |
G | upstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 205 | 0.0049 | -55 | c.-45 others(66): Show |
NPIPA2 | ENSG00000254852.9 | transcript | ENST00000529166.6 | protein_coding | 4245 | chr16 | TogoVar | ||||||
NRG3_chr10_81870194_82992178 | 82132470 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0065 | 1 | 66 | 0.0152 | -55 | c.824 others(76): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NRXN1_chr2_49913503_51037132 | 50219958 | ATATATTA others(48): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 116 | 0.0086 | -55 | c.354 others(76): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 18/22 | chr2 | TogoVar | ||||||
NTN4_chr12_95652807_95795764 | 95761317 | AGAGATAT others(48): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01243.hp1 HG01358.hp1 others(12): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0186a0001c0001t0002g0187a0001c0001t0002g0188others(12): Show | 15 | 324 | 0.0463 | -55 | c.586 others(74): Show |
NTN4 | ENSG00000074527.13 | transcript | ENST00000343702.9 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16735811 | AAGGAAGG others(48): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG02293.hp1 others(6): Show |
a0001a0002a0004others(4): Show | a0001c0002a0002c0001a0004c0005others(5): Show | a0001c0002t0020a0002c0001t0001a0004c0005t0039others(5): Show | a0001c0002t0020g0249a0002c0001t0001g0147a0004c0005t0039g0084others(6): Show | 9 | 300 | 0.0300 | -55 | c.82- others(68): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225538786 | CTTTCTTT others(48): Show |
C | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0164 | 1 | 192 | 0.0052 | -55 | c.523 others(74): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | chr2 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27986788 | ATGATAGT others(48): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA19084.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193a0001c0001t0002g0194a0001c0001t0002g0195 | 3 | 304 | 0.0099 | -55 | c.382 others(70): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 3/19 | chr10 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64093664 | GTGCGCAG others(48): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 66 | 0.0152 | -55 | c.233 others(70): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64094807 | TGTGGGGG others(48): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG03453.hp2 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0019 | a0001c0001t0002g0005a0002c0002t0019g0021 | 3 | 66 | 0.0455 | -55 | c.233 others(72): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OR11A1_chr6_29420504_29462071 | 29454879 | TTAAAAAA others(48): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 3 | 441 | 0.0068 | -55 | c.-38 others(74): Show |
OR11A1 | ENSG00000204694.13 | transcript | ENST00000377149.5 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
OR1R1P_chr17_3380930_3391874 | 3383939 | AAATATTT others(48): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(196): Show |
a0001a0002a0004 | a0001c0001a0001c0010a0001c0012others(4): Show | a0001c0001t0000a0001c0010t0000a0001c0012t0000others(4): Show | a0001c0001t0000g0000a0001c0010t0000g0000a0001c0012t0000g0000others(4): Show | 199 | 416 | 0.4784 | -55 | c.-19 others(66): Show |
OR1R1P | ENSG00000180042.5 | transcript | ENST00000572493.2 | protein_coding | 1990 | chr17 | TogoVar | ||||||
OR2H1_chr6_29452155_29469328 | 29454879 | TTAAAAAA others(48): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG02027.hp2 |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0027a0005c0006t0006g0035 | 3 | 453 | 0.0066 | -55 | c.-27 others(66): Show |
OR2H1 | ENSG00000204688.10 | transcript | ENST00000377133.6 | protein_coding | 2275 | chr6 | TogoVar | ||||||
OR3A2_chr17_3271177_3391308 | 3383939 | AAATATTT others(48): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(145): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(22): Show | a0001c0001t0001g0003a0001c0001t0001g0109a0001c0001t0001g0110others(144): Show | 148 | 318 | 0.4654 | -55 | c.-37 others(74): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31812719 | AAAGAAAG others(48): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0183 | 1 | 186 | 0.0054 | -55 | c.729 others(74): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
OSBPL2_chr20_62233521_62301183 | 62270414 | GCCTCTCT others(48): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0080 | 2 | 348 | 0.0058 | -55 | c.259 others(72): Show |
OSBPL2 | ENSG00000130703.17 | transcript | ENST00000313733.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
P2RY12_chr3_151331843_151389753 | 151368604 | TATTTTAT others(48): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0013 | a0001c0001t0003g0024a0001c0001t0003g0158a0001c0001t0003g0175others(5): Show | 9 | 396 | 0.0227 | -55 | c.-18 others(76): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151368629 | TATTTCAT others(48): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01069.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0086a0001c0001t0001g0095others(13): Show | 17 | 396 | 0.0429 | -55 | c.-18 others(76): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151368634 | CATTTCAT others(48): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG03195.hp2 |
a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0012a0002c0004t0005g0083 | 3 | 396 | 0.0076 | -55 | c.-18 others(76): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151368677 | GTCATTTC others(48): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG01257.hp1 HG01928.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0179others(21): Show | 26 | 396 | 0.0657 | -55 | c.-18 others(76): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
PABPC1L_chr20_44905060_44944316 | 44931102 | TTCCTTCG others(48): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 396 | 0.0025 | -55 | c.123 others(72): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PAIP1_chr5_43521267_43562077 | 43523535 | GAATGCAG others(48): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(136): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0007others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(130): Show | 139 | 350 | 0.3971 | -55 | c.*37 others(66): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 2731 | chr5 | TogoVar | ||||||
PALD1_chr10_70473767_70573450 | 70569868 | CAGCATTA others(48): Show |
C | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0122 | 1 | 308 | 0.0033 | -55 | c.*31 others(66): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 1419 | chr10 | TogoVar | ||||||
PAPPA_chr9_116148791_116407321 | 116289131 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 NA18522.hp2 |
a0001a0010 | a0001c0001a0010c0024a0010c0025 | a0001c0001t0006a0010c0024t0012a0010c0025t0055 | a0001c0001t0006g0170a0010c0024t0012g0024a0010c0025t0055g0020 | 3 | 234 | 0.0128 | -55 | c.295 others(76): Show |
PAPPA | ENSG00000182752.10 | transcript | ENST00000328252.4 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAQR9_chr3_142949585_142968674 | 142965381 | AAACGTGC others(48): Show |
A | upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 446 | 0.0022 | -55 | c.-21 others(66): Show |
PAQR9 | ENSG00000188582.10 | transcript | ENST00000340634.6 | protein_coding | 1708 | chr3 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204713378 | ATAAAAAA others(48): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02622.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0001a0002c0015others(4): Show | a0001c0004t0014a0001c0004t0021a0002c0001t0004others(5): Show | a0001c0004t0014g0016a0001c0004t0021g0051a0002c0001t0004g0017others(5): Show | 8 | 54 | 0.1482 | -55 | c.222 others(74): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PARP8_chr5_50661637_50851519 | 50708672 | CACATTGA others(48): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017 | a0001c0001t0002g0158a0001c0001t0002g0169a0001c0001t0002g0170others(4): Show | 7 | 328 | 0.0213 | -55 | c.146 others(74): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PAWR_chr12_79579879_79695964 | 79613943 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02683.hp2 HG03834.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0011a0001c0001t0004g0124a0001c0001t0004g0125others(1): Show | 4 | 256 | 0.0156 | -55 | c.649 others(70): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79613945 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 256 | 0.0039 | -55 | c.649 others(70): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36973083 | CGGAAAGG others(48): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01257.hp1 HG01258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0001t0086a0001c0001t0093others(3): Show | a0001c0001t0029g0158a0001c0001t0086g0090a0001c0001t0093g0140others(3): Show | 6 | 274 | 0.0219 | -55 | c.605 others(72): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910080 | CCACTGCC others(48): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0022 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0017g0097others(1): Show | 4 | 292 | 0.0137 | -55 | c.471 others(70): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 745159 | GGGGTCGC others(48): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG03704.hp1 NA18964.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0002a0001c0001t0006a0002c0002t0003others(1): Show | a0001c0001t0002g0177a0001c0001t0006g0144a0002c0002t0003g0038others(2): Show | 5 | 366 | 0.0137 | -55 | c.462 others(70): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746123 | CCCGGGGG others(48): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02132.hp1 HG04184.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0014a0001c0003t0005others(1): Show | a0001c0001t0003g0043a0001c0001t0014g0025a0001c0003t0005g0126others(1): Show | 4 | 366 | 0.0109 | -55 | c.462 others(72): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746521 | CCCGGGGT others(48): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0121 | 1 | 366 | 0.0027 | -55 | c.462 others(72): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746921 | CCGGGGGT others(48): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01981.hp1 NA18990.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0022a0001c0003t0029 | a0001c0001t0001g0198a0001c0001t0022g0032a0001c0003t0029g0130 | 3 | 366 | 0.0082 | -55 | c.462 others(72): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 746977 | CCCGGGGT others(48): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0049 | 1 | 366 | 0.0027 | -55 | c.462 others(72): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 747491 | CCGGGGGT others(48): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0278 | 1 | 366 | 0.0027 | -55 | c.462 others(72): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 747547 | CCCGGGGT others(48): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01358.hp1 HG03490.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007 | a0001c0003t0005a0002c0002t0001a0002c0007t0055 | a0001c0003t0005g0137a0002c0002t0001g0192a0002c0002t0001g0193others(1): Show | 4 | 366 | 0.0109 | -55 | c.462 others(72): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCID2_chr13_113172536_113213669 | 113184879 | TCAGGGGG others(48): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 414 | 0.0024 | -55 | c.544 others(70): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 8/13 | chr13 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20679862 | CAGTATTA others(48): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01071.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0012others(6): Show | a0001c0001t0005a0001c0001t0019a0001c0001t0021others(37): Show | a0001c0001t0005g0005a0001c0001t0005g0192a0001c0001t0019g0073others(40): Show | 43 | 198 | 0.2172 | -55 | c.318 others(72): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE4D_chr5_58964038_59898726 | 59574085 | TATATATA others(48): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 74 | 0.0135 | -55 | c.455 others(76): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | ||||||
PF4_chr4_73975811_73987027 | 73982181 | AAAAAAAA others(48): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 366 | 0.0055 | -55 | c.-28 others(64): Show |
PF4 | ENSG00000163737.5 | transcript | ENST00000296029.4 | protein_coding | 155 | chr4 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59674522 | CCGCTTCT others(48): Show |
C | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 250 | 0.0040 | -55 | c.119 others(74): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678879 | GGGTGTGT others(48): Show |
G | downstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 350 | 0.0029 | -55 | c.*51 others(66): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2446 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97678945 | GTGTGTGT others(48): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 350 | 0.0029 | -55 | c.*52 others(66): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2512 | chr10 | TogoVar |