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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1713): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 204 | 0.0049 | 1720 | c.106 others(1739): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(1713): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 275 | 0.0036 | 1720 | c.654 others(1739): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1713): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0314 | 1 | 42 | 0.0238 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1713): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0056 | a0056c0104 | a0056c0104t0010 | a0056c0104t0010g0160 | 1 | 42 | 0.0238 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1713): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(144): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0016a0001c0051others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0035 others(143): Show |
147 | 188 | 0.7819 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1713): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0034 | a0034c0069 | a0034c0069t0003 | a0034c0069t0003g0116 | 1 | 42 | 0.0238 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1713): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0151 | 1 | 42 | 0.0238 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(1713): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 42 | 0.0238 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426081 | A | ATGTGGTT others(1713): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 330 | 0.0030 | 1720 | c.179 others(1735): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1186141 | G | GGGTGAGT others(1713): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0013 | a0013c0026 | a0013c0026t0008 | a0013c0026t0008g0278 | 1 | 324 | 0.0031 | 1720 | c.300 others(1737): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1713): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0134 | 1 | 236 | 0.0042 | 1720 | c.268 others(1739): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1713): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 2 | 0.5000 | 1720 | c.44- others(1733): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2314432 | A | AGAGAGGA others(1713): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0014 | 1 | 46 | 0.0217 | 1720 | c.287 others(1739): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
FHOD3_chr18_36292713_36785220 | 36463416 | T | TAATATAT others(1713): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 47 | 0.0213 | 1720 | c.338 others(1739): Show |
FHOD3 | ENSG00000134775.16 | transcript | ENST00000590592.6 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(1713): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0055 | a0055c0028 | a0055c0028t0001 | a0055c0028t0001g0145 | 1 | 129 | 0.0078 | 1720 | c.193 others(1739): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(1713): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0147 | 1 | 3 | 0.3333 | 1720 | c.-16 others(1731): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCCCTCCC others(1713): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0023 | a0002c0023t0003 | a0002c0023t0003g0073 | 1 | 17 | 0.0588 | 1720 | c.*11 others(1741): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1713): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0074 | a0074c0123 | a0074c0123t0001 | a0074c0123t0001g0082 | 1 | 31 | 0.0323 | 1720 | c.956 others(1737): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1713): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0018 | a0018c0033 | a0018c0033t0005 | a0018c0033t0005g0148 | 1 | 202 | 0.0050 | 1720 | c.-28 others(1739): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1713): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0220 | 1 | 32 | 0.0313 | 1720 | c.218 others(1735): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(1713): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 163 | 0.0061 | 1720 | c.773 others(1735): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1713): Show |
intron_variant | MODIFIER | HG01123.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0166 |
2 | 6 | 0.3333 | 1720 | c.189 others(1739): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1713): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 336 | 0.0030 | 1720 | c.-38 others(1731): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1713): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0049 a0001c0001t0001g0216 a0001c0001t0004g0042 others(33): Show |
39 | 374 | 0.1043 | 1720 | c.-38 others(1731): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1713): Show |
upstream_gene_variant | MODIFIER | NA18981.hp2 NA19000.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 a0001c0001t0005g0039 a0001c0001t0005g0200 |
3 | 338 | 0.0089 | 1720 | c.-38 others(1731): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520902 | G | GCCCAGGC others(1713): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0005 | a0005c0006 | a0005c0006t0036 | a0005c0006t0036g0054 | 1 | 339 | 0.0029 | 1720 | c.-38 others(1731): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3174 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520907 | G | GGCTGGAG others(1713): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 428 | 0.0023 | 1720 | c.-38 others(1731): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3169 | chr19 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1713): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0100 | 1 | 2 | 0.5000 | 1720 | c.438 others(1737): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1713): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0015 | 1 | 92 | 0.0109 | 1720 | c.124 others(1739): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1713): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0104 | 1 | 92 | 0.0109 | 1720 | c.124 others(1739): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1713): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03041.hp2 HG03209.hp1 others(4): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0007a0001c0001t0012a0001c0001t0017others(2): Show | a0001c0001t0007g0105 a0001c0001t0007g0107 a0001c0001t0012g0013 others(4): Show |
7 | 98 | 0.0714 | 1720 | c.124 others(1739): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1713): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 92 | 0.0109 | 1720 | c.124 others(1739): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1713): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0038 | 1 | 18 | 0.0556 | 1720 | c.-28 others(1739): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1713): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0050 | 1 | 18 | 0.0556 | 1720 | c.-28 others(1739): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1713): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0051 | 1 | 18 | 0.0556 | 1720 | c.-28 others(1739): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311082 | A | ACCTGGCC others(1713): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG01496.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0022 others(25): Show |
30 | 61 | 0.4918 | 1720 | c.327 others(1737): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1714): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 45 | 0.0222 | 1721 | c.289 others(1740): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1714): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 83 | 0.0120 | 1721 | c.724 others(1740): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(1714): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 107 | 0.0093 | 1721 | c.147 others(1738): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824256 | C | CCGCGGTC others(1714): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 107 | 0.0093 | 1721 | c.147 others(1738): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1714): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0042 | a0001c0042t0022 | a0001c0042t0022g0127 | 1 | 142 | 0.0070 | 1721 | c.*11 others(1742): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1714): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 5 | 0.2000 | 1721 | c.189 others(1740): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDE2A_chr11_72571141_72679422 | 72601170 | T | TCTCCACC others(1714): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 224 | 0.0045 | 1721 | c.324 others(1738): Show |
PDE2A | ENSG00000186642.16 | transcript | ENST00000334456.10 | protein_coding | 4/30 | chr11 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1714): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0007 | a0007c0008 | a0007c0008t0004 | a0007c0008t0004g0267 | 1 | 34 | 0.0294 | 1721 | c.299 others(1736): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1714): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0206 | 1 | 336 | 0.0030 | 1721 | c.-38 others(1732): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1714): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG03942.hp1 |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0003a0005c0006t0034 | a0002c0002t0003g0239 a0005c0006t0034g0161 |
2 | 337 | 0.0059 | 1721 | c.-38 others(1732): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1714): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 336 | 0.0030 | 1721 | c.-38 others(1732): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1714): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0011 | a0004c0011t0062 | a0004c0011t0062g0219 | 1 | 336 | 0.0030 | 1721 | c.-38 others(1732): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520902 | G | GCCCAGGC others(1714): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0055 | 1 | 339 | 0.0029 | 1721 | c.-38 others(1732): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3174 | chr19 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1714): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0005 | a0005c0011 | a0005c0011t0047 | a0005c0011t0047g0022 | 1 | 92 | 0.0109 | 1721 | c.124 others(1740): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar |