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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE7_chr16_89570758_89602246 | 89587731 | C | CCACAGAT others(741): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0316 | 1 | 348 | 0.0029 | 748 | c.927 others(763): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(741): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0016 | a0016c0028 | a0016c0028t0024 | a0016c0028t0024g0040 | 1 | 126 | 0.0079 | 748 | c.415 others(769): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4258514 | G | GGAGGGAG others(741): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03139.hp1 |
a0002a0025 | a0002c0074a0025c0066 | a0002c0074t0041a0025c0066t0010 | a0002c0074t0041g0031 a0025c0066t0010g0032 |
2 | 126 | 0.0159 | 748 | c.415 others(769): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725511 | C | CGGTGGAT others(741): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0233 | 1 | 324 | 0.0031 | 748 | c.340 others(765): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(741): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0060 | 1 | 324 | 0.0031 | 748 | c.340 others(765): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(741): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0252 | 1 | 336 | 0.0030 | 748 | c.348 others(765): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713578 | G | GCACCACC others(741): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 748 | c.*36 others(759): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 988 | chr19 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2713650 | T | TCCTCACT others(741): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 748 | c.*35 others(759): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 916 | chr19 | TogoVar | |||||||
ESYT2_chr7_158725997_158834509 | 158745299 | G | GGCATGAC others(741): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 a0002c0002t0002g0231 |
2 | 370 | 0.0054 | 748 | c.164 others(767): Show |
ESYT2 | ENSG00000117868.18 | transcript | ENST00000275418.13 | protein_coding | 16/22 | chr7 | TogoVar | |||||||
FAM118B_chr11_126206782_126267968 | 126226429 | C | CAGGCCAG others(741): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp2 HG04204.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 others(1): Show |
4 | 346 | 0.0116 | 748 | c.-76 others(765): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635721 | A | AAGTATGG others(741): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 388 | 0.0026 | 748 | c.59- others(763): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(741): Show |
splice_region_variant others(1): Show |
LOW | NA19030.hp2 | a0026 | a0026c0018 | a0026c0018t0018 | a0026c0018t0018g0292 | 1 | 308 | 0.0033 | 748 | c.157 others(761): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144493 | C | CCCCCCTC others(741): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0025 | a0025c0056 | a0025c0056t0006 | a0025c0056t0006g0083 | 1 | 230 | 0.0044 | 748 | c.126 others(765): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073906 | T | TATATAAA others(741): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 208 | 0.0048 | 748 | c.-97 others(765): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322499 | A | AAAAAAAA others(741): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01071.hp2 HG02155.hp2 others(9): Show |
a0001a0023a0029 | a0001c0001a0001c0003a0023c0026others(1): Show | a0001c0001t0002a0001c0003t0001a0023c0026t0001others(1): Show | a0001c0001t0002g0027 a0001c0001t0002g0052 a0001c0001t0002g0054 others(9): Show |
12 | 155 | 0.0774 | 748 | c.-37 others(759): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3704 | chrX | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173149 | T | TCTCTCTC others(741): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0013 | a0001c0013t0036 | a0001c0013t0036g0005 | 1 | 158 | 0.0063 | 748 | c.*11 others(769): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(741): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 370 | 0.0027 | 748 | c.-27 others(759): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(741): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0065 | 1 | 294 | 0.0034 | 748 | c.153 others(767): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(741): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0137 | 1 | 288 | 0.0035 | 748 | c.483 others(763): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(741): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 |
2 | 288 | 0.0069 | 748 | c.483 others(763): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MERTK_chr2_111893607_112034561 | 111944498 | A | AATTCCTT others(741): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01255.hp2 others(7): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0005others(1): Show | a0002c0002t0001a0003c0003t0001a0005c0005t0003others(1): Show | a0002c0002t0001g0154 a0003c0003t0001g0014 a0003c0003t0001g0020 others(7): Show |
10 | 288 | 0.0347 | 748 | c.483 others(763): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925228 | G | GCCTCCGC others(741): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0073 | a0001c0073t0001 | a0001c0073t0001g0027 | 1 | 278 | 0.0036 | 748 | c.115 others(765): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(741): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0252 | 1 | 278 | 0.0036 | 748 | c.115 others(765): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(741): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 140 | 0.0071 | 748 | c.114 others(767): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(741): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0029 | a0029c0064 | a0029c0064t0001 | a0029c0064t0001g0056 | 1 | 249 | 0.0040 | 748 | c.148 others(767): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(741): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0014 | a0014c0085 | a0014c0085t0001 | a0014c0085t0001g0163 | 1 | 249 | 0.0040 | 748 | c.148 others(767): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760558 | G | GATGGATG others(741): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0023 | a0023c0012 | a0023c0012t0001 | a0023c0012t0001g0114 | 1 | 249 | 0.0040 | 748 | c.148 others(767): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64233262 | T | TCCCCTTT others(741): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0035 | 1 | 223 | 0.0045 | 748 | c.289 others(765): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150395 | C | CGCCGCCT others(741): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 294 | 0.0034 | 748 | c.902 others(763): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535614 | G | GGTGGGTC others(741): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0094 | 1 | 324 | 0.0031 | 748 | c.140 others(765): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(741): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0215 | 1 | 398 | 0.0025 | 748 | c.-45 others(769): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCTCCTCT others(741): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 326 | 0.0031 | 748 | c.433 others(765): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 810293 | C | CGTTACGA others(741): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0073 | 1 | 242 | 0.0041 | 748 | c.821 others(765): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 5/7 | chr17 | TogoVar | |||||||
OR2T6_chr1_248370746_248396811 | 248383843 | T | TGTGTTTC others(741): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0011 | a0011c0011 | a0011c0011t0025 | a0011c0011t0025g0086 | 1 | 403 | 0.0025 | 748 | c.-15 others(765): Show |
OR2T6 | ENSG00000198104.4 | transcript | ENST00000641644.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3686319 | G | GAGAACAG others(741): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0209 | 1 | 362 | 0.0028 | 748 | c.981 others(765): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686319 | G | GAGAACAG others(741): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02486.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0013 a0002c0002t0001g0203 a0002c0002t0001g0204 others(5): Show |
9 | 362 | 0.0249 | 748 | c.981 others(765): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686319 | G | GAGAACAG others(741): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 362 | 0.0028 | 748 | c.981 others(765): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686319 | G | GAGAACAG others(741): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 362 | 0.0028 | 748 | c.981 others(765): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686319 | G | GAGAACAG others(741): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 362 | 0.0028 | 748 | c.981 others(765): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PARP10_chr8_143972158_143991460 | 143981746 | A | ATGGTGAT others(741): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0281 | 1 | 380 | 0.0026 | 748 | c.255 others(767): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | |||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(741): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 250 | 0.0040 | 748 | c.309 others(767): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(741): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 250 | 0.0040 | 748 | c.309 others(767): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(741): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03927.hp1 HG04115.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0229 a0001c0001t0001g0230 others(2): Show |
5 | 250 | 0.0200 | 748 | c.309 others(767): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(741): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 250 | 0.0040 | 748 | c.309 others(767): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325263 | T | TGAGAGAG others(741): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 398 | 0.0025 | 748 | c.194 others(765): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492394 | C | CCCCGGGA others(741): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 295 | 0.0034 | 748 | c.126 others(767): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492397 | C | CGGGAGAC others(741): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0233 | 1 | 295 | 0.0034 | 748 | c.126 others(767): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(741): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0059 | a0001c0001t0032g0218 a0001c0001t0059g0216 |
2 | 220 | 0.0091 | 748 | c.24+ others(765): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29010490 | G | GTCCCAGC others(741): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0205 | 1 | 438 | 0.0023 | 748 | c.68- others(763): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934148 | A | AGGGGCGG others(741): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0251 | 1 | 434 | 0.0023 | 748 | c.843 others(765): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |