view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR3A2_chr17_3271177_3391308 | 3367601 | G | GTATATAT others(40): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0036 | a0002c0002t0036g0292 | 1 | 68 | 0.0147 | 47 | c.-37 others(68): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
OR4M1_chr14_19768504_19788696 | 19775710 | T | TATTTTAA others(40): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0086 | 1 | 274 | 0.0036 | 47 | c.-30 others(64): Show |
OR4M1 | ENSG00000176299.5 | transcript | ENST00000641200.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
OR52M1_chr11_4540191_4551144 | 4541252 | C | CCTTCTGG others(40): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | 47 | c.-39 others(58): Show |
OR52M1 | ENSG00000197790.1 | transcript | ENST00000360213.1 | protein_coding | 3938 | chr11 | TogoVar | |||||||
OR6C2_chr12_55439076_55458347 | 55446857 | T | TAAAACTC others(40): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 452 | 0.0022 | 47 | c.-88 others(66): Show |
OR6C2 | ENSG00000179695.3 | transcript | ENST00000641202.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
OR6J1_chr14_22625929_22649352 | 22636292 | C | CCCTCTCC others(40): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0253 | 1 | 360 | 0.0028 | 47 | c.-27 others(64): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31769483 | A | AATAAAAA others(40): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02922.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0089 a0001c0001t0002g0090 a0001c0001t0006g0185 |
3 | 163 | 0.0184 | 47 | c.730 others(66): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31965651 | T | TATTATAT others(40): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03831.hp2 |
a0001a0003 | a0001c0002a0003c0017 | a0001c0002t0001a0003c0017t0001 | a0001c0002t0001g0132 a0003c0017t0001g0012 |
2 | 162 | 0.0123 | 47 | c.281 others(66): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
OSBPL3_chr7_24791540_24985178 | 24917401 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0115 | 1 | 71 | 0.0141 | 47 | c.-14 others(68): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
OSBPL3_chr7_24791540_24985178 | 24917446 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0004 | 1 | 231 | 0.0043 | 47 | c.-14 others(68): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3131768 | C | CCCATCCA others(40): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0004a0001c0002t0010a0002c0003t0003 | a0001c0001t0004g0152 a0001c0002t0010g0168 a0002c0003t0003g0167 others(1): Show |
4 | 96 | 0.0417 | 47 | c.-21 others(64): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 1/21 | chr11 | TogoVar | |||||||
OSCAR_chr19_54089668_54105803 | 54089940 | G | GTTTTTTT others(40): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0302 | 1 | 12 | 0.0833 | 47 | c.*52 others(58): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 4727 | chr19 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31564387 | G | GTTTTTTT others(40): Show |
intron_variant | MODIFIER | NA18973.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 a0001c0001t0002g0185 |
2 | 160 | 0.0125 | 47 | c.332 others(64): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38160856 | C | CACGCATT others(40): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 246 | 0.0041 | 47 | c.-50 others(58): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 4680 | chr3 | TogoVar | |||||||
P2RX2_chr12_132613776_132627388 | 132618232 | A | AAAGAAAG others(40): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG02818.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001 a0001c0001t0009g0001 |
6 | 175 | 0.0343 | 47 | c.-58 others(56): Show |
P2RX2 | ENSG00000187848.15 | transcript | ENST00000643471.2 | protein_coding | 543 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130816 | A | AAAAGAAA others(40): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 HG04228.hp2 |
a0008a0012 | a0008c0007a0012c0013 | a0008c0007t0002a0012c0013t0005 | a0008c0007t0002g0218 a0012c0013t0005g0235 |
2 | 325 | 0.0062 | 47 | c.-21 others(58): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2059 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121130843 | A | AGAAAGAA others(40): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01069.hp2 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0004others(9): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0042 others(21): Show |
25 | 89 | 0.2809 | 47 | c.-21 others(58): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2032 | chr12 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1457746 | T | TATCTATC others(40): Show |
downstream_gene_variant | MODIFIER | HG02809.hp2 HG03195.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0003t0003 | a0001c0001t0003g0061 a0001c0001t0005g0009 a0001c0003t0003g0019 others(2): Show |
5 | 111 | 0.0450 | 47 | c.*77 others(58): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 4834 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1508999 | T | TATCTATC others(40): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0012 | a0001c0001t0006g0057 a0001c0003t0012g0002 |
2 | 109 | 0.0183 | 47 | c.-25 others(66): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGGAGG others(40): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0032 | a0001c0001t0012g0020 a0001c0001t0012g0099 a0001c0001t0012g0100 others(1): Show |
5 | 151 | 0.0331 | 47 | c.904 others(62): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168499285 | T | TGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01099.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0027 a0001c0001t0002g0089 a0001c0001t0005g0091 others(24): Show |
27 | 117 | 0.2308 | 47 | c.-83 others(64): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0113 a0001c0001t0004g0003 |
2 | 57 | 0.0351 | 47 | c.162 others(64): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | |||||||
PALM2AKAP2_chr9_109775198_110177512 | 110076492 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0221 a0001c0001t0008g0215 |
2 | 62 | 0.0323 | 47 | c.583 others(66): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 129 | 0.0078 | 47 | c.583 others(62): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0175 | 1 | 129 | 0.0078 | 47 | c.583 others(62): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PANK3_chr5_168543495_168584368 | 168565868 | A | AAATATAT others(40): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0323 | 1 | 159 | 0.0063 | 47 | c.635 others(62): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
PAPSS2_chr10_87654878_87752705 | 87706108 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 194 | 0.0052 | 47 | c.28- others(62): Show |
PAPSS2 | ENSG00000198682.13 | transcript | ENST00000456849.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322763 | A | AGAGAGGG others(40): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 258 | 0.0039 | 47 | c.-27 others(68): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR6_chr1_156238320_156253056 | 156250521 | T | TACTCTTG others(40): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 47 | c.-25 others(58): Show |
PAQR6 | ENSG00000160781.17 | transcript | ENST00000292291.10 | protein_coding | 2466 | chr1 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605988 | A | ATATCTCC others(40): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 37 | 0.0270 | 47 | c.223 others(66): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARP8_chr5_50661637_50851519 | 50787884 | A | AACATATA others(40): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 326 | 0.0031 | 47 | c.671 others(62): Show |
PARP8 | ENSG00000151883.20 | transcript | ENST00000281631.10 | protein_coding | 9/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562850 | C | CCGGGCGG others(40): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0163 | 1 | 212 | 0.0047 | 47 | c.-10 others(58): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 824 | chrX | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562857 | C | CCGGGCGG others(40): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 192 | 0.0052 | 47 | c.-10 others(58): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 817 | chrX | TogoVar | |||||||
PATJ_chr1_61737480_62168915 | 61886819 | C | CAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03688.hp2 |
a0001a0004 | a0001c0093a0004c0011 | a0001c0093t0001a0004c0011t0002 | a0001c0093t0001g0104 a0004c0011t0002g0011 |
2 | 6 | 0.3333 | 47 | c.313 others(66): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 22/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATL1_chr11_59631716_59674037 | 59632697 | A | ATATATAT others(40): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 266 | 0.0038 | 47 | c.*56 others(58): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 4018 | chr11 | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59632747 | G | GATATATA others(40): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 37 | 0.0270 | 47 | c.*56 others(58): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3968 | chr11 | TogoVar | |||||||
PBX3_chr9_125742373_125972377 | 125780646 | C | CCCCCCAC others(40): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0013others(1): Show | a0001c0002t0003g0144 a0001c0002t0004g0117 a0001c0002t0004g0134 others(31): Show |
34 | 292 | 0.1164 | 47 | c.274 others(66): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746672 | G | GGTGGTGT others(40): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0003g0013 others(4): Show |
7 | 280 | 0.0250 | 47 | c.-16 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746675 | G | GGTGTCAG others(40): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 169 | 0.0059 | 47 | c.-16 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746805 | G | GCACACGG others(40): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 a0001c0001t0002g0220 |
2 | 277 | 0.0072 | 47 | c.-16 others(66): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92331291 | C | CTTCTTCT others(40): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0110 |
2 | 112 | 0.0179 | 47 | c.314 others(68): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5522241 | T | TTAACATA others(40): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 115 | 0.0087 | 47 | c.305 others(68): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCGF5_chr10_91215663_91289337 | 91238602 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0184 | 1 | 304 | 0.0033 | 47 | c.113 others(64): Show |
PCGF5 | ENSG00000180628.15 | transcript | ENST00000336126.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762550 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0071 | 1 | 324 | 0.0031 | 47 | c.56- others(62): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(40): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG01109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0052 others(7): Show |
17 | 224 | 0.0759 | 47 | c.354 others(64): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG03017.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0094 others(5): Show |
10 | 217 | 0.0461 | 47 | c.354 others(64): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GTGTGTGT others(40): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 375 | 0.0027 | 47 | c.354 others(64): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
PCP4L1_chr1_161253745_161290450 | 161281492 | T | TGGGCGGC others(40): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 HG03490.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 a0001c0001t0003g0121 a0001c0001t0003g0134 others(3): Show |
6 | 400 | 0.0150 | 47 | c.10- others(62): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101426740 | C | CGGCTGCA others(40): Show |
intron_variant | MODIFIER | HG02280.hp2 NA18906.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0002a0001c0002t0005a0002c0008t0001 | a0001c0001t0002g0248 a0001c0002t0005g0215 a0002c0008t0001g0021 |
3 | 240 | 0.0125 | 47 | c.823 others(64): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCAGGG others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00609.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(22): Show | a0001c0001t0001g0007 a0001c0001t0001g0167 a0001c0001t0001g0187 others(45): Show |
49 | 134 | 0.3657 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 511336 | T | TGGCAGGG others(40): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03453.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0001t0045a0001c0001t0054others(1): Show | a0001c0001t0032g0154 a0001c0001t0045g0011 a0001c0001t0054g0022 others(1): Show |
4 | 89 | 0.0449 | 47 | c.266 others(62): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 3/5 | chr7 | TogoVar |