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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(785): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 390 | 0.0026 | 792 | c.-42 others(803): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45923808 | A | ATCGGGTG others(785): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 282 | 0.0035 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924042 | A | AGTCGCGT others(785): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 290 | 0.0034 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924480 | T | TGAGGAGA others(785): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 219 | 0.0046 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924666 | A | ATCGGGTG others(785): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02165.hp1 NA19091.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0158 a0001c0001t0001g0185 a0004c0007t0001g0141 |
3 | 244 | 0.0123 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924827 | C | CGGGAACA others(785): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 257 | 0.0039 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924905 | A | AGTGGATA others(785): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 162 | 0.0062 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924905 | A | AGTGGATA others(785): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03491.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0052 |
3 | 164 | 0.0183 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924910 | G | GTAGAAAC others(785): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0290 | 1 | 155 | 0.0065 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924910 | G | GTAGAAAC others(785): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 155 | 0.0065 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924959 | C | CGGGAACA others(785): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0277 | 1 | 252 | 0.0040 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925128 | A | ATCGGGTG others(785): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00738.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0016a0001c0002t0004others(1): Show | a0001c0001t0012g0031 a0001c0001t0012g0032 a0001c0001t0016g0011 others(8): Show |
11 | 171 | 0.0643 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925128 | A | ATCGGGTG others(785): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0074 | 1 | 161 | 0.0062 | 792 | c.718 others(809): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741419 | G | GGGGGGGC others(785): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0087 | 1 | 283 | 0.0035 | 792 | c.143 others(807): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PLA2G6_chr22_38106495_38186830 | 38110135 | G | GGAGAGAG others(785): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 7 | 0.1429 | 792 | c.*20 others(803): Show |
PLA2G6 | ENSG00000184381.20 | transcript | ENST00000332509.8 | protein_coding | 1359 | chr22 | TogoVar | |||||||
RFX2_chr19_5988164_6115500 | 6070038 | G | GGAATGGG others(785): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18953.hp1 |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0003 | a0003c0005t0001g0044 a0003c0005t0003g0019 |
2 | 263 | 0.0076 | 792 | c.-8- others(809): Show |
RFX2 | ENSG00000087903.13 | transcript | ENST00000303657.10 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646425 | C | CCCTCACC others(785): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0014 | a0014c0050 | a0014c0050t0001 | a0014c0050t0001g0104 | 1 | 175 | 0.0057 | 792 | c.-35 others(813): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(785): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0018 | 1 | 20 | 0.0500 | 792 | c.351 others(811): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 340766 | T | TCCCACCC others(785): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 2 | 0.5000 | 792 | c.-21 others(811): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918978 | A | AGGAGGAG others(785): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 217 | 0.0046 | 792 | c.916 others(809): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(785): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0264 | 1 | 259 | 0.0039 | 792 | c.101 others(811): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(785): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 160 | 0.0063 | 792 | c.101 others(809): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176305314 | G | GTGGGGGG others(785): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 194 | 0.0052 | 792 | c.173 others(811): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(785): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03130.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 |
3 | 160 | 0.0188 | 792 | c.626 others(809): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(785): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0369 | 1 | 273 | 0.0037 | 792 | c.107 others(809): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168659504 | G | GAGGGTGG others(785): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01081.hp2 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(5): Show | a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 others(16): Show |
19 | 68 | 0.2794 | 792 | c.128 others(811): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48384325 | G | GGAGGGAG others(785): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 283 | 0.0035 | 792 | c.909 others(807): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(785): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0159 a0001c0001t0011g0255 |
2 | 4 | 0.5000 | 792 | c.597 others(809): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(785): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0224 a0001c0001t0011g0256 |
2 | 4 | 0.5000 | 792 | c.597 others(809): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(785): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099 | 1 | 34 | 0.0294 | 792 | c.142 others(811): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(785): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 34 | 0.0294 | 792 | c.142 others(811): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(785): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0055 a0001c0001t0002g0012 a0001c0001t0008g0043 others(2): Show |
5 | 38 | 0.1316 | 792 | c.142 others(811): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(785): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0014 a0001c0001t0004g0021 a0001c0001t0010g0023 |
3 | 36 | 0.0833 | 792 | c.142 others(811): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884843 | C | CCTCTCCC others(785): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 203 | 0.0049 | 792 | c.429 others(807): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(785): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0081 | 1 | 264 | 0.0038 | 792 | c.189 others(809): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311001 | C | CATCATAG others(785): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0272 a0001c0001t0008g0315 a0001c0001t0008g0316 others(1): Show |
4 | 40 | 0.1000 | 792 | c.327 others(809): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(785): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 126 | 0.0079 | 792 | c.*54 others(803): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(785): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0010 | 1 | 98 | 0.0102 | 792 | c.41- others(809): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(785): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 172 | 0.0058 | 792 | c.225 others(811): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870633 | C | CCACACAC others(785): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 91 | 0.0110 | 792 | c.*35 others(811): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(785): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0146 | 1 | 83 | 0.0120 | 792 | c.*61 others(803): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | |||||||
UBE2J2_chr1_1248912_1278854 | 1249037 | G | GCGAGGGA others(785): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 83 | 0.0120 | 792 | c.*61 others(803): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4874 | chr1 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876179 | C | CTTCCCCC others(785): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0137 | 1 | 228 | 0.0044 | 792 | c.-10 others(809): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(785): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 9 | 0.1111 | 792 | c.4-1 others(805): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCCC others(785): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 9 | 0.1111 | 792 | c.4-1 others(805): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCTCTGC others(786): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 225 | 0.0044 | 793 | c.*37 others(804): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(786): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0045 | 1 | 72 | 0.0139 | 793 | c.273 others(810): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(786): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0231 | 1 | 2 | 0.5000 | 793 | c.266 others(810): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAAA others(786): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0188 | 1 | 236 | 0.0042 | 793 | c.403 others(808): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(786): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01978.hp1 HG02273.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0022 a0001c0002t0002g0033 others(2): Show |
5 | 154 | 0.0325 | 793 | c.223 others(814): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar |