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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP93_chr16_56725129_56855286 | 56739723 | C | CGATCCCC others(397): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0219 | 1 | 357 | 0.0028 | 404 | c.-14 others(421): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OBI1_chr13_78609289_78664155 | 78659294 | T | TAGAAAGA others(397): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0109 |
2 | 244 | 0.0082 | 404 | c.-17 others(413): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 140 | chr13 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(397): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 122 | 0.0082 | 404 | c.*70 others(415): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(397): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 122 | 0.0082 | 404 | c.*70 others(415): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(397): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 404 | c.-26 others(415): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CTATAGAT others(397): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 182 | 0.0055 | 404 | c.-26 others(415): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842868 | A | AGATAGAT others(397): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 321 | 0.0031 | 404 | c.-26 others(415): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2214 | chr20 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398485 | T | TGCGTCAC others(397): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 196 | 0.0051 | 404 | c.106 others(421): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398485 | T | TGCGTCAC others(397): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 196 | 0.0051 | 404 | c.106 others(421): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | chr11 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(397): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0050 | 1 | 157 | 0.0064 | 404 | c.106 others(421): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977476 | C | CAACCCCG others(397): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0145 | 1 | 245 | 0.0041 | 404 | c.*29 others(415): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1612 | chr1 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(397): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 82 | 0.0122 | 404 | c.147 others(421): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137517880 | A | ACACTCAC others(397): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp2 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0006others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0002others(15): Show | a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 others(34): Show |
37 | 150 | 0.2467 | 404 | c.108 others(423): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137517880 | A | ACACTCAC others(397): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp2 HG03209.hp2 others(1): Show |
a0009a0015a0026 | a0009c0013a0009c0030a0015c0014others(1): Show | a0009c0013t0001a0009c0030t0001a0015c0014t0001others(1): Show | a0009c0013t0001g0163 a0009c0030t0001g0124 a0015c0014t0001g0168 others(1): Show |
4 | 117 | 0.0342 | 404 | c.108 others(423): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(397): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0247 | 1 | 228 | 0.0044 | 404 | c.306 others(423): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51449643 | A | AACAGCAT others(397): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 20 | 0.0500 | 404 | c.479 others(423): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51449643 | A | AACAGCAT others(397): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 20 | 0.0500 | 404 | c.479 others(423): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PRKG1_chr10_51069487_52303350 | 51449643 | A | AACAGCAT others(397): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0024 | 1 | 20 | 0.0500 | 404 | c.479 others(423): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75481598 | C | CGGGAGGG others(397): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 159 | 0.0063 | 404 | c.106 others(423): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51696870 | T | TACACACA others(397): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0015 | a0015c0009 | a0015c0009t0001 | a0015c0009t0001g0086 | 1 | 23 | 0.0435 | 404 | c.165 others(423): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803147 | T | TGGGGGCC others(397): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 93 | 0.0108 | 404 | c.-50 others(415): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4800 | chr9 | TogoVar | |||||||
RASSF2_chr20_4775023_4828608 | 4798765 | G | GCAGTGAG others(397): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00558.hp1 others(60): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0181 others(51): Show |
63 | 419 | 0.1504 | 404 | c.60- others(417): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3/11 | chr20 | TogoVar | |||||||
RASSF2_chr20_4775023_4828608 | 4798765 | G | GCAGTGAG others(397): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0085 | 1 | 357 | 0.0028 | 404 | c.60- others(417): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3/11 | chr20 | TogoVar | |||||||
RASSF2_chr20_4775023_4828608 | 4798765 | G | GCAGTGAG others(397): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0015 a0001c0001t0010g0105 a0001c0001t0010g0118 others(4): Show |
8 | 364 | 0.0220 | 404 | c.60- others(417): Show |
RASSF2 | ENSG00000101265.16 | transcript | ENST00000379400.8 | protein_coding | 3/11 | chr20 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388408 | T | TATAGCTA others(397): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 301 | 0.0033 | 404 | c.66+ others(419): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0134 | 1 | 30 | 0.0333 | 404 | c.*36 others(415): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0131 |
3 | 32 | 0.0938 | 404 | c.*36 others(415): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 30 | 0.0333 | 404 | c.*36 others(415): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1500849 | A | AGGGGAAG others(397): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 30 | 0.0333 | 404 | c.*36 others(415): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2923 | chr19 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759494 | T | TGTATGTA others(397): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 324 | 0.0031 | 404 | c.-23 others(415): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2085 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759610 | C | CATACGTA others(397): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 402 | 0.0025 | 404 | c.-24 others(415): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2201 | chr3 | TogoVar | |||||||
RGPD5_chr2_109789305_109862705 | 109794573 | A | ACCCGGCC others(397): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 24 | 0.0417 | 404 | c.72+ others(415): Show |
RGPD5 | ENSG00000015568.13 | transcript | ENST00000016946.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341502 | G | GGGCGGAG others(397): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00733.hp2 others(24): Show |
a0001a0002a0010others(4): Show | a0001c0002a0001c0004a0001c0006others(7): Show | a0001c0002t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0002t0001g0004 a0001c0002t0001g0163 a0001c0002t0001g0170 others(23): Show |
27 | 238 | 0.1134 | 404 | c.188 others(423): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RPS6KA2_chr6_166404364_166632251 | 166416035 | T | TCACCACC others(397): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03041.hp1 HG03130.hp1 |
a0001 | a0001c0004a0001c0013a0001c0019 | a0001c0004t0010a0001c0013t0010a0001c0019t0031 | a0001c0004t0010g0235 a0001c0013t0010g0229 a0001c0019t0031g0197 |
3 | 242 | 0.0124 | 404 | c.193 others(423): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 19/20 | chr6 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088071 | C | CGTATTAA others(397): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 204 | 0.0049 | 404 | c.*43 others(415): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4212 | chrX | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289181 | T | TCCGTCCC others(397): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0018 | a0018c0029 | a0018c0029t0001 | a0018c0029t0001g0049 | 1 | 229 | 0.0044 | 404 | c.166 others(423): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934328 | C | CATATATA others(397): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0215 | 1 | 303 | 0.0033 | 404 | c.115 others(421): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89462954 | G | GGGAGGGG others(397): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0015 | a0001c0001t0001g0051 a0001c0003t0015g0077 |
2 | 41 | 0.0488 | 404 | c.-30 others(423): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SLC25A32_chr8_103393638_103420107 | 103407948 | T | TATATATA others(397): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 353 | 0.0028 | 404 | c.155 others(419): Show |
SLC25A32 | ENSG00000164933.13 | transcript | ENST00000297578.9 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246243400 | A | ACATAGTG others(397): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0057 | 1 | 97 | 0.0103 | 404 | c.531 others(423): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157827234 | C | CATATATT others(397): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 211 | 0.0047 | 404 | c.12+ others(419): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31807412 | A | AGGGGAGG others(397): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0210 | 1 | 6 | 0.1667 | 404 | c.138 others(423): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(397): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0079 | 1 | 170 | 0.0059 | 404 | c.-18 others(423): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(397): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025 | 1 | 170 | 0.0059 | 404 | c.-18 others(423): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(397): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0015 | 1 | 108 | 0.0093 | 404 | c.-18 others(423): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(397): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0276 | 1 | 108 | 0.0093 | 404 | c.-18 others(423): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61982228 | A | ACCCCAGA others(397): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0185 | 1 | 214 | 0.0047 | 404 | c.309 others(423): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772292 | T | TACACATA others(397): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0066 | 1 | 101 | 0.0099 | 404 | c.62+ others(419): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235412166 | C | CCCTCCCC others(397): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 165 | 0.0061 | 404 | c.186 others(421): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627947 | A | AGGGGGTG others(397): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0001 | a0002c0001t0082 | a0002c0001t0082g0288 | 1 | 343 | 0.0029 | 404 | c.299 others(419): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar |