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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCLK2_chr4_150073445_150262438 | 150251003 | C | CCAACACC others(1039): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0011 | a0001c0011t0020 | a0001c0011t0020g0065 | 1 | 116 | 0.0086 | 1046 | c.207 others(1065): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 447426 | T | TATACTCA others(1039): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02040.hp2 HG02132.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0056a0001c0002t0002g0067a0001c0002t0003g0047 | 3 | 88 | 0.0341 | 1046 | c.269 others(1063): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(1039): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0005 | a0005c0159 | a0005c0159t0002 | a0005c0159t0002g0005 | 1 | 256 | 0.0039 | 1046 | c.323 others(1065): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCCTGCC others(1039): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 250 | 0.0040 | 1046 | c.-10 others(1065): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240184976 | T | TCCCCTTC others(1039): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0054 | a0054c0100 | a0054c0100t0001 | a0054c0100t0001g0129 | 1 | 174 | 0.0058 | 1046 | c.193 others(1065): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1039): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 155 | 0.0065 | 1046 | c.488 others(1061): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1039): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18991.hp2 |
a0003 | a0003c0004a0003c0039 | a0003c0004t0002a0003c0039t0002 | a0003c0004t0002g0080a0003c0039t0002g0094 | 2 | 155 | 0.0129 | 1046 | c.488 others(1061): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1039): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0092 | 1 | 155 | 0.0065 | 1046 | c.488 others(1061): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39971011 | C | CCCTTGGC others(1039): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0025 | 1 | 360 | 0.0028 | 1046 | c.195 others(1063): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1039): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 | 1 | 312 | 0.0032 | 1046 | c.-41 others(1061): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1039): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0065 | a0065c0097 | a0065c0097t0001 | a0065c0097t0001g0134 | 1 | 292 | 0.0034 | 1046 | c.218 others(1061): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1039): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0113 | 1 | 318 | 0.0031 | 1046 | c.-49 others(1057): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MLC1_chr22_50054391_50090426 | 50057338 | A | AGTCAGGT others(1039): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 212 | 0.0047 | 1046 | c.*42 others(1057): Show |
MLC1 | ENSG00000100427.16 | transcript | ENST00000311597.10 | protein_coding | 2052 | chr22 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGA others(1039): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0140 | 1 | 388 | 0.0026 | 1046 | c.-72 others(1055): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(1039): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0292 | 1 | 326 | 0.0031 | 1046 | c.433 others(1063): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1039): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 1046 | c.*31 others(1057): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1039): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0029a0001c0001t0040g0129 | 2 | 288 | 0.0069 | 1046 | c.127 others(1063): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133878 | C | CCCCTCTC others(1039): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 227 | 0.0044 | 1046 | c.*24 others(1057): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2166 | chr19 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 356432 | C | CCACACAT others(1039): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0012 | a0003c0012t0005 | a0003c0012t0005g0020 | 1 | 133 | 0.0075 | 1046 | c.-39 others(1057): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3626 | chr17 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913508 | G | GTGTGTGT others(1039): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 420 | 0.0024 | 1046 | c.*28 others(1057): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1823 | chr9 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1039): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0254 | 1 | 322 | 0.0031 | 1046 | c.597 others(1063): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TRAPPC9_chr8_139722725_140462744 | 139755495 | T | TTGGGGTA others(1039): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0032 | 1 | 98 | 0.0102 | 1046 | c.305 others(1067): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028626 | C | CCACATAC others(1039): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0141 | 1 | 224 | 0.0045 | 1046 | c.225 others(1065): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCATCACC others(1039): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 2 | 360 | 0.0056 | 1046 | c.*24 others(1057): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670531 | T | TCCGTGCA others(1039): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0205a0001c0001t0002g0315a0001c0001t0003g0301 | 3 | 394 | 0.0076 | 1046 | c.129 others(1063): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VCX2_chrX_8164944_8176267 | 8169884 | C | CCACCTCT others(1039): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0038 | 1 | 115 | 0.0087 | 1046 | c.*14 others(1055): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 59 | chrX | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGGAG others(1040): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0122 | 1 | 238 | 0.0042 | 1047 | c.787 others(1062): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(1040): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0003 | a0003c0012 | a0003c0012t0005 | a0003c0012t0005g0188 | 1 | 254 | 0.0039 | 1047 | c.305 others(1064): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(1040): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0011 | 1 | 104 | 0.0096 | 1047 | c.830 others(1064): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(1040): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0010 | a0010c0016 | a0010c0016t0002 | a0010c0016t0002g0044 | 1 | 236 | 0.0042 | 1047 | c.342 others(1068): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1040): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 236 | 0.0042 | 1047 | c.342 others(1068): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(1040): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230a0001c0001t0001g0233 | 2 | 370 | 0.0054 | 1047 | c.891 others(1062): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438425 | A | AAGGAGGA others(1040): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0138 | a0001c0138t0001 | a0001c0138t0001g0226 | 1 | 252 | 0.0040 | 1047 | c.118 others(1066): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1040): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0181 | 1 | 192 | 0.0052 | 1047 | c.441 others(1066): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71448561_71691763 | 71618373 | A | ATGTGTGG others(1040): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 192 | 0.0052 | 1047 | c.441 others(1066): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000258104.8 | protein_coding | 40/54 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1040): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 208 | 0.0048 | 1047 | c.446 others(1066): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DYSF_chr2_71461699_71691763 | 71618373 | A | ATGTGTGG others(1040): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 | 1 | 208 | 0.0048 | 1047 | c.446 others(1066): Show |
DYSF | ENSG00000135636.16 | transcript | ENST00000410020.8 | protein_coding | 40/55 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATACATA others(1040): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0019 | a0019c0084 | a0019c0084t0001 | a0019c0084t0001g0285 | 1 | 292 | 0.0034 | 1047 | c.228 others(1064): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATACATA others(1040): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0282 | 1 | 369 | 0.0027 | 1047 | c.-49 others(1058): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706457 | C | CATACATA others(1040): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0049 | 1 | 369 | 0.0027 | 1047 | c.-49 others(1058): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4743 | chr4 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520669 | C | CCACCACG others(1040): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 272 | 0.0037 | 1047 | c.238 others(1068): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997259 | G | GGGGGGCG others(1040): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 375 | 0.0027 | 1047 | c.-22 others(1058): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 411 | chr6 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1040): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 326 | 0.0031 | 1047 | c.433 others(1064): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(1040): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0019 | 1 | 242 | 0.0041 | 1047 | c.361 others(1066): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TTCCCTTC others(1040): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0066 | 1 | 178 | 0.0056 | 1047 | c.773 others(1062): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1040): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0131 | 1 | 288 | 0.0035 | 1047 | c.127 others(1064): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1040): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(57): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(34): Show | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0002g0077others(57): Show | 60 | 288 | 0.2083 | 1047 | c.127 others(1064): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1040): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0085a0001c0002t0092others(1): Show | a0001c0001t0009g0012a0001c0001t0009g0014a0001c0001t0009g0015others(4): Show | 7 | 288 | 0.0243 | 1047 | c.127 others(1064): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1040): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0147 | 1 | 288 | 0.0035 | 1047 | c.127 others(1064): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
PGBD5_chr1_230309490_230431332 | 230332040 | A | ACACACCA others(1040): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG02015.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0004g0092a0001c0001t0004g0139a0001c0001t0004g0145others(14): Show | 17 | 288 | 0.0590 | 1047 | c.127 others(1064): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 5/6 | chr1 | TogoVar |