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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARD3B_chr2_204540475_205625162 | 204735049 | C | CAAGATTT others(903): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0028 | a0007c0028t0003 | a0007c0028t0003g0007 | 1 | 46 | 0.0217 | 910 | c.222 others(929): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 204735049 | C | CAAGATTT others(903): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0046 | 1 | 46 | 0.0217 | 910 | c.222 others(929): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTACCCC others(903): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0124 | 1 | 338 | 0.0030 | 910 | c.*16 others(921): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 16 | 0.0625 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(140): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0011a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(36): Show |
143 | 158 | 0.9051 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA18989.hp1 NA18993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0029 | a0001c0001t0001g0001 a0001c0001t0006g0043 a0001c0001t0029g0061 |
5 | 20 | 0.2500 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(117): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0023a0001c0001t0030a0002c0002t0002others(11): Show | a0001c0001t0023g0048 a0001c0001t0030g0062 a0002c0002t0002g0002 others(27): Show |
120 | 135 | 0.8889 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0115 | 1 | 16 | 0.0625 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03209.hp2 |
a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0038 | 2 | 17 | 0.1176 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924611 | T | TGAGTGTG others(903): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(29): Show |
a0003a0004a0011 | a0003c0003a0003c0018a0004c0004others(1): Show | a0003c0003t0005a0003c0003t0021a0003c0018t0034others(4): Show | a0003c0003t0005g0008 a0003c0003t0021g0041 a0003c0018t0034g0116 others(11): Show |
32 | 47 | 0.6809 | 910 | c.*57 others(921): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 3910 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(903): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0074 | 1 | 24 | 0.0417 | 910 | c.371 others(927): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(903): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 19 | 0.0526 | 910 | c.24+ others(927): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(903): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 7 | 0.1429 | 910 | c.27+ others(927): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(903): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0104 | 1 | 195 | 0.0051 | 910 | c.347 others(925): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RGPD4_chr2_107821892_107897544 | 107828299 | C | CGCTCTGT others(903): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 326 | 0.0031 | 910 | c.72+ others(925): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288793 | C | CCCCGTGT others(903): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0137 | 1 | 260 | 0.0038 | 910 | c.166 others(927): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977201 | C | CCACGCAG others(903): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0007 | a0007c0044 | a0007c0044t0001 | a0007c0044t0001g0020 | 1 | 67 | 0.0149 | 910 | c.199 others(929): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401625 | A | ACCCGACC others(903): Show |
downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 195 | 0.0051 | 910 | c.*42 others(921): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4090 | chr11 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246071781 | C | CTGTAGTT others(903): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0122 | 1 | 139 | 0.0072 | 910 | c.532 others(931): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222599 | C | CTGGAGGT others(903): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0037 | 1 | 158 | 0.0063 | 910 | c.719 others(929): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1345654 | T | TCCCCCTG others(903): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0112 | 1 | 141 | 0.0071 | 910 | c.148 others(931): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STAT4_chr2_191024576_191155994 | 191144629 | T | TAGAAGAA others(903): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 283 | 0.0035 | 910 | c.273 others(927): Show |
STAT4 | ENSG00000138378.19 | transcript | ENST00000392320.7 | protein_coding | 3/23 | chr2 | TogoVar | |||||||
STAT4_chr2_191024576_191155994 | 191144629 | T | TAGAAGAA others(903): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 283 | 0.0035 | 910 | c.273 others(927): Show |
STAT4 | ENSG00000138378.19 | transcript | ENST00000392320.7 | protein_coding | 3/23 | chr2 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(903): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0001 | a0002c0001t0023 | a0002c0001t0023g0307 | 1 | 174 | 0.0057 | 910 | c.299 others(927): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(903): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 144 | 0.0069 | 910 | c.*28 others(921): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(903): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 35 | 0.0286 | 910 | c.*35 others(929): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(903): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 35 | 0.0286 | 910 | c.*35 others(929): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169533 | C | CCCTCCCT others(903): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0040 | 1 | 105 | 0.0095 | 910 | c.*49 others(919): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 410 | chrX | TogoVar | |||||||
VCX3A_chrX_6528618_6540118 | 6532932 | A | ACACCTCC others(903): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0013 | 1 | 54 | 0.0185 | 910 | c.*81 others(919): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 685 | chrX | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025446 | A | ACAGACCC others(904): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0005 | a0002c0005t0013 | a0002c0005t0013g0063 | 1 | 242 | 0.0041 | 911 | c.387 others(930): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(904): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0170 | 1 | 30 | 0.0333 | 911 | c.505 others(930): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(904): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 30 | 0.0333 | 911 | c.505 others(930): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(904): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0130 |
2 | 4 | 0.5000 | 911 | c.267 others(930): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(904): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0087 a0001c0007t0001g0067 a0001c0007t0001g0068 others(1): Show |
4 | 6 | 0.6667 | 911 | c.267 others(930): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(904): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03579.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0014a0001c0006t0002 | a0001c0001t0002g0074 a0001c0001t0014g0153 a0001c0006t0002g0303 |
3 | 5 | 0.6000 | 911 | c.267 others(930): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(904): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001a0006 | a0001c0001a0006c0041 | a0001c0001t0002a0006c0041t0002 | a0001c0001t0002g0078 a0006c0041t0002g0090 |
2 | 4 | 0.5000 | 911 | c.267 others(930): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(904): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 296 | 0.0034 | 911 | c.*36 others(922): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(904): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 302 | 0.0033 | 911 | c.891 others(928): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(904): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01074.hp1 others(16): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0013 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0299 a0002c0002t0001g0108 a0002c0002t0001g0110 others(16): Show |
19 | 92 | 0.2065 | 911 | c.937 others(926): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(904): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 74 | 0.0135 | 911 | c.937 others(926): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(904): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 | 1 | 74 | 0.0135 | 911 | c.937 others(926): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(904): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0010 | 1 | 74 | 0.0135 | 911 | c.937 others(926): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(904): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 | 1 | 74 | 0.0135 | 911 | c.937 others(926): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647631 | T | TCCCCCTC others(904): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0015 | a0001c0015t0027 | a0001c0015t0027g0042 | 1 | 265 | 0.0038 | 911 | c.*54 others(922): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2287 | chr15 | TogoVar | |||||||
CUX2_chr12_111029165_111355554 | 111326140 | T | TGGGGGAG others(904): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0031 | 1 | 50 | 0.0200 | 911 | c.292 others(930): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97301030 | G | GCAGTGGC others(904): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0104 | 1 | 147 | 0.0068 | 911 | c.284 others(932): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634674 | C | CCCTTCCT others(904): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 143 | 0.0070 | 911 | c.105 others(928): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635153 | C | CCCTTCCT others(904): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19079.hp1 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 others(1): Show |
4 | 199 | 0.0201 | 911 | c.105 others(926): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3316029 | C | CACCACCA others(904): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 231 | 0.0043 | 911 | c.259 others(930): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(904): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0044 | 1 | 6 | 0.1667 | 911 | c.-17 others(930): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar |