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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1021): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02698.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0138a0001c0001t0001g0232a0001c0001t0012g0183 | 3 | 318 | 0.0094 | 1028 | c.285 others(1047): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1021): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 318 | 0.0031 | 1028 | c.285 others(1047): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1021): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 318 | 0.0031 | 1028 | c.285 others(1047): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1021): Show |
intron_variant | MODIFIER | NA19077.hp1 NA19090.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0202a0004c0005t0001g0169 | 2 | 318 | 0.0063 | 1028 | c.285 others(1047): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1021): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03453.hp2 NA18522.hp2 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0223a0003c0005t0002g0224a0003c0005t0002g0225 | 3 | 326 | 0.0092 | 1028 | c.327 others(1045): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(1021): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG03098.hp1 others(1): Show |
a0009a0021 | a0009c0012a0021c0026 | a0009c0012t0001a0021c0026t0001 | a0009c0012t0001g0029a0009c0012t0001g0030a0009c0012t0001g0031others(1): Show | 4 | 252 | 0.0159 | 1028 | c.-29 others(1039): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1021): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 278 | 0.0036 | 1028 | c.328 others(1045): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471369 | A | ACATACAT others(1021): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0120 | 1 | 148 | 0.0068 | 1028 | c.183 others(1047): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0028 | 1 | 408 | 0.0025 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0295 | 1 | 408 | 0.0025 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG03130.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0013a0001c0005t0002 | a0001c0001t0013g0035a0001c0005t0002g0130 | 2 | 408 | 0.0049 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01361.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029a0001c0002t0002g0030a0001c0002t0002g0254others(6): Show | 9 | 408 | 0.0221 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00735.hp1 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0042a0001c0001t0001g0044others(15): Show | 18 | 408 | 0.0441 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01993.hp2 HG02293.hp2 others(12): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0052a0001c0001t0001g0108a0001c0001t0001g0109others(12): Show | 15 | 408 | 0.0368 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 408 | 0.0025 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 408 | 0.0025 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 408 | 0.0025 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1021): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03710.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0098a0001c0002t0002g0046 | 2 | 408 | 0.0049 | 1028 | c.-14 others(1047): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GGGGGGGA others(1021): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0035a0002c0002t0011g0036 | 2 | 308 | 0.0065 | 1028 | c.157 others(1045): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(1021): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0019 | 1 | 268 | 0.0037 | 1028 | c.-28 others(1039): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1021): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0091 | 1 | 155 | 0.0065 | 1028 | c.487 others(1043): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316177 | C | CACACAGA others(1021): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0092 | 1 | 155 | 0.0065 | 1028 | c.487 others(1043): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364372 | C | CCCACACT others(1021): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 | 1 | 290 | 0.0035 | 1028 | c.129 others(1047): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LRRC27_chr10_132327193_132386508 | 132364373 | C | CCACCCTT others(1021): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 290 | 0.0035 | 1028 | c.129 others(1047): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LYPD8_chr1_248734415_248760759 | 248746753 | G | GCACCCAC others(1021): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0273 | 1 | 374 | 0.0027 | 1028 | c.338 others(1045): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81850 | T | TCCCCGCG others(1021): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 442 | 0.0023 | 1028 | c.301 others(1045): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1021): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0236 | 1 | 384 | 0.0026 | 1028 | c.160 others(1045): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40084643 | C | CGATAGAT others(1021): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0010 | a0002c0010t0004 | a0002c0010t0004g0045 | 1 | 170 | 0.0059 | 1028 | c.332 others(1047): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NME8_chr7_37843597_37905397 | 37848241 | A | AGGAGAAG others(1021): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 388 | 0.0026 | 1028 | c.-72 others(1037): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 355 | chr7 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGG others(1021): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 388 | 0.0026 | 1028 | c.-72 others(1037): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(1021): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0267 | 1 | 422 | 0.0024 | 1028 | c.195 others(1045): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 81850 | T | TCCCCGCG others(1021): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 | 1 | 350 | 0.0029 | 1028 | c.*48 others(1039): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3535 | chr16 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(1021): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0308 | 1 | 326 | 0.0031 | 1028 | c.433 others(1045): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731952 | T | TGGGGAGG others(1021): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0023 | 1 | 282 | 0.0036 | 1028 | c.299 others(1043): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1021): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02738.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0113a0003c0003t0002g0120 | 2 | 346 | 0.0058 | 1028 | c.176 others(1047): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1021): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0091 | a0002c0091t0007 | a0002c0091t0007g0133 | 1 | 134 | 0.0075 | 1028 | c.575 others(1049): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1021): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 312 | 0.0032 | 1028 | c.306 others(1047): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PRKCZ_chr1_2045411_2190395 | 2123456 | T | TCATGGGT others(1021): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 286 | 0.0035 | 1028 | c.335 others(1047): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123456 | T | TCATGGGT others(1021): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 286 | 0.0035 | 1028 | c.335 others(1047): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976544 | A | AGGGTCCC others(1021): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0039 | a0001c0039t0050 | a0001c0039t0050g0022 | 1 | 116 | 0.0086 | 1028 | c.199 others(1047): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(1021): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0026 | a0004c0026t0011 | a0004c0026t0011g0025 | 1 | 420 | 0.0024 | 1028 | c.107 others(1045): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1021): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0355 | 1 | 420 | 0.0024 | 1028 | c.107 others(1045): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1021): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0360 | 1 | 420 | 0.0024 | 1028 | c.107 others(1045): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1021): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0040 | 1 | 420 | 0.0024 | 1028 | c.107 others(1045): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(1021): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0353 | 1 | 420 | 0.0024 | 1028 | c.107 others(1045): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCTATC others(1021): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0366 | 1 | 420 | 0.0024 | 1028 | c.107 others(1045): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637511 | T | TTATATAT others(1021): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 268 | 0.0037 | 1028 | c.*73 others(1039): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3977 | chr10 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1021): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0216a0001c0001t0004g0265 | 2 | 394 | 0.0051 | 1028 | c.129 others(1045): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1021): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 394 | 0.0025 | 1028 | c.129 others(1045): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1021): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 394 | 0.0025 | 1028 | c.129 others(1045): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |