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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIMBP2_chr12_130391133_130721299 | 130392313 | T | TCACGTGT others(535): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02486.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(8): Show | a0001c0001t0001g0179a0001c0003t0001g0058a0001c0003t0001g0130others(12): Show | 15 | 180 | 0.0833 | 542 | c.*50 others(553): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3819 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392313 | T | TCACGTGT others(535): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 180 | 0.0056 | 542 | c.*50 others(553): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3819 | chr12 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80748399 | G | GGGGGCTG others(535): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02273.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0003a0001c0018a0001c0030others(1): Show | a0001c0003t0004a0001c0018t0016a0001c0030t0003others(1): Show | a0001c0003t0004g0119a0001c0018t0016g0120a0001c0030t0003g0115others(1): Show | 4 | 196 | 0.0204 | 542 | c.655 others(559): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RYK_chr3_134152133_134255859 | 134192441 | C | CAAAAAGT others(535): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 376 | 0.0027 | 542 | c.890 others(557): Show |
RYK | ENSG00000163785.14 | transcript | ENST00000623711.4 | protein_coding | 7/14 | chr3 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284177 | T | TTGGGTGA others(535): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0220 | 1 | 290 | 0.0035 | 542 | c.464 others(555): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(535): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 324 | 0.0031 | 542 | c.115 others(559): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2354900 | A | ACCCCATA others(535): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 422 | 0.0024 | 542 | c.134 others(559): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SIGIRR_chr11_400716_419999 | 401197 | C | CGCCCCGC others(535): Show |
downstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 242 | 0.0041 | 542 | c.*46 others(553): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4518 | chr11 | TogoVar | ||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(535): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059a0001c0001t0002g0089 | 2 | 350 | 0.0057 | 542 | c.624 others(557): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1422744 | C | CCACAGTG others(535): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 373 | 0.0027 | 542 | c.654 others(557): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(535): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 340 | 0.0029 | 542 | c.*17 others(561): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246325041 | C | CGGGGGGC others(535): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 150 | 0.0067 | 542 | c.531 others(559): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(535): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 188 | 0.0053 | 542 | c.152 others(561): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117031379 | T | TGTATATA others(535): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 188 | 0.0053 | 542 | c.152 others(561): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(535): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 268 | 0.0037 | 542 | c.*73 others(553): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628016 | G | GGGGGTGA others(535): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03831.hp2 |
a0001a0019 | a0001c0005a0019c0017 | a0001c0005t0047a0019c0017t0001 | a0001c0005t0047g0042a0019c0017t0001g0221 | 2 | 352 | 0.0057 | 542 | c.299 others(557): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628715 | G | GAAGGGGA others(535): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0336 | 1 | 352 | 0.0028 | 542 | c.299 others(559): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629112 | A | AGGTGGGA others(535): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19063.hp1 |
a0002a0013 | a0002c0001a0013c0022 | a0002c0001t0019a0013c0022t0007 | a0002c0001t0019g0084a0013c0022t0007g0066 | 2 | 352 | 0.0057 | 542 | c.299 others(559): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134608643 | A | AAGGACAG others(535): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0214a0001c0001t0006g0061 | 2 | 222 | 0.0090 | 542 | c.323 others(561): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321874 | C | CAGGCACG others(535): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18947.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231a0001c0001t0001g0233a0001c0001t0001g0234 | 3 | 430 | 0.0070 | 542 | c.961 others(557): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ACATTATA others(535): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 224 | 0.0045 | 542 | c.102 others(561): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(535): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01192.hp2 HG01256.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0206a0002c0002t0001g0213others(2): Show | 6 | 344 | 0.0174 | 542 | c.141 others(561): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(535): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02451.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0017a0001c0032others(1): Show | a0001c0001t0001a0001c0017t0002a0001c0032t0002others(1): Show | a0001c0001t0001g0321a0001c0017t0002g0045a0001c0017t0002g0046others(4): Show | 8 | 344 | 0.0233 | 542 | c.141 others(561): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437768 | T | TCACCCCA others(535): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03017.hp2 HG03710.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0015a0001c0047others(3): Show | a0001c0001t0001a0001c0015t0001a0001c0047t0001others(4): Show | a0001c0001t0001g0299a0001c0015t0001g0340a0001c0047t0001g0026others(5): Show | 8 | 344 | 0.0233 | 542 | c.141 others(561): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(535): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 272 | 0.0037 | 542 | c.*28 others(553): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(535): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0141 | 1 | 334 | 0.0030 | 542 | c.657 others(557): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(535): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 | 1 | 334 | 0.0030 | 542 | c.657 others(557): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(535): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 334 | 0.0030 | 542 | c.657 others(557): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52530386 | A | AATAATAT others(535): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0034 | 2 | 238 | 0.0084 | 542 | c.392 others(559): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(535): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0028 | 1 | 204 | 0.0049 | 542 | c.213 others(561): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(535): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 64 | 0.0156 | 542 | c.104 others(561): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VCX3A_chrX_6528618_6540118 | 6533065 | C | CCCTCCCT others(535): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 74 | 0.0135 | 542 | c.*67 others(551): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 552 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466576 | G | GGGGAGGG others(535): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0019 | a0019c0023 | a0019c0023t0006 | a0019c0023t0006g0015 | 2 | 271 | 0.0074 | 542 | c.*19 others(551): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 67 | chrX | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675052 | T | TGCCTCCC others(535): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0145 | 1 | 326 | 0.0031 | 542 | c.483 others(557): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675205 | C | CCCTTCCT others(535): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0211 | 1 | 326 | 0.0031 | 542 | c.483 others(557): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF214_chr11_6992085_7025346 | 6992834 | C | CGGTAATA others(535): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0036a0006c0008t0001g0090 | 2 | 366 | 0.0055 | 542 | c.*70 others(553): Show |
ZNF214 | ENSG00000149050.10 | transcript | ENST00000278314.5 | protein_coding | 4250 | chr11 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370809 | C | CATCATAT others(535): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 542 | c.-36 others(553): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3559 | chr10 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(535): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0084 | 1 | 126 | 0.0079 | 542 | c.-28 others(561): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(536): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0074a0001c0001t0003g0072a0001c0001t0003g0073 | 3 | 337 | 0.0089 | 543 | c.61+ others(558): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(536): Show |
intron_variant | MODIFIER | HG00733.hp2 HG03669.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0082a0001c0001t0002g0081a0001c0001t0006g0142 | 3 | 337 | 0.0089 | 543 | c.61+ others(558): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235802998 | G | GTGATGGT others(536): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0015 | 1 | 98 | 0.0102 | 543 | c.957 others(560): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AKT3_chr1_243494724_243855243 | 243525831 | G | GGGGGAGG others(536): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 301 | 0.0033 | 543 | c.125 others(564): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 41159910 | G | GAGAAGGA others(536): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0169 | 1 | 192 | 0.0052 | 543 | c.-41 others(564): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374892 | A | AAGGGAGG others(536): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 184 | 0.0054 | 543 | c.784 others(558): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | chr11 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(536): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 300 | 0.0033 | 543 | c.-70 others(552): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182087 | T | TACACACT others(536): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01358.hp2 HG01993.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052a0001c0001t0002g0142a0001c0001t0002g0247others(4): Show | 7 | 460 | 0.0152 | 543 | c.193 others(560): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88894454 | G | GCACACAT others(536): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0206 | 2 | 284 | 0.0070 | 543 | c.380 others(560): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 3/11 | chr16 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802944 | G | GGGGGCCC others(536): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 398 | 0.0025 | 543 | c.666 others(558): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(536): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0329 | 1 | 398 | 0.0025 | 543 | c.666 others(558): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803280 | G | GCCGGGGG others(536): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 398 | 0.0025 | 543 | c.666 others(558): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |