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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(1084): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 246 | 0.0041 | 1091 | c.-18 others(1102): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1084): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0181 | 1 | 376 | 0.0027 | 1091 | c.63+ others(1104): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0004 | a0004c0044 | a0004c0044t0011 | a0004c0044t0011g0299 | 1 | 384 | 0.0026 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(84): Show |
a0001a0002a0007others(6): Show | a0001c0003a0001c0004a0002c0002others(8): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(12): Show | a0001c0003t0001g0266a0001c0003t0002g0006a0001c0003t0002g0012others(72): Show | 87 | 384 | 0.2266 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02615.hp2 others(4): Show |
a0003a0022a0024others(1): Show | a0003c0014a0022c0030a0024c0033others(1): Show | a0003c0014t0003a0022c0030t0003a0024c0033t0003others(1): Show | a0003c0014t0003g0316a0003c0014t0003g0324a0003c0014t0003g0326others(4): Show | 7 | 384 | 0.0182 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0041 | a0041c0057 | a0041c0057t0001 | a0041c0057t0001g0139 | 1 | 384 | 0.0026 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02129.hp2 NA18940.hp1 others(14): Show |
a0005a0012a0014others(3): Show | a0005c0006a0012c0016a0014c0024others(4): Show | a0005c0006t0001a0012c0016t0001a0014c0024t0001others(4): Show | a0005c0006t0001g0005a0005c0006t0001g0022a0005c0006t0001g0257others(10): Show | 17 | 384 | 0.0443 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 | 1 | 384 | 0.0026 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1084): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0011 | 1 | 236 | 0.0042 | 1091 | c.342 others(1112): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1084): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0068 | 1 | 236 | 0.0042 | 1091 | c.342 others(1112): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500891 | G | GTGTGTAG others(1084): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0091 | a0004c0091t0001 | a0004c0091t0001g0056 | 1 | 292 | 0.0034 | 1091 | c.268 others(1110): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500919 | T | TGTGTTGG others(1084): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0222 | 1 | 292 | 0.0034 | 1091 | c.268 others(1110): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGATCTG others(1084): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0336 | 1 | 396 | 0.0025 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGATCTG others(1084): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0358 | 1 | 396 | 0.0025 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1084): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 396 | 0.0025 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1084): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0362 | 1 | 396 | 0.0025 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1084): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0364 | 1 | 396 | 0.0025 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1084): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0112 | a0112c0184 | a0112c0184t0003 | a0112c0184t0003g0252 | 1 | 252 | 0.0040 | 1091 | c.118 others(1110): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1084): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0079 | a0079c0173 | a0079c0173t0001 | a0079c0173t0001g0244 | 1 | 252 | 0.0040 | 1091 | c.118 others(1110): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1084): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0331 | 1 | 384 | 0.0026 | 1091 | c.215 others(1108): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1084): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0141 | 1 | 384 | 0.0026 | 1091 | c.215 others(1108): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218284 | A | ACCCCCAA others(1084): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 1091 | c.*27 others(1102): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1115 | chr8 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCACCCAC others(1084): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 388 | 0.0026 | 1091 | c.105 others(1108): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(1084): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0136 | 1 | 168 | 0.0060 | 1091 | c.206 others(1112): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1084): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0005 | 1 | 312 | 0.0032 | 1091 | c.-41 others(1106): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGCGG others(1084): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0009 | a0007c0009t0017 | a0007c0009t0017g0366 | 1 | 375 | 0.0027 | 1091 | c.-19 others(1102): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1084): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 236 | 0.0042 | 1091 | c.193 others(1110): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1084): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 236 | 0.0042 | 1091 | c.193 others(1110): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1084): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0002a0002c0004t0007 | a0001c0002t0002g0002a0002c0004t0007g0233 | 2 | 236 | 0.0085 | 1091 | c.193 others(1110): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1084): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0038 | 1 | 108 | 0.0093 | 1091 | c.648 others(1110): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(1084): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 272 | 0.0037 | 1091 | c.250 others(1106): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1084): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0118 | 1 | 208 | 0.0048 | 1091 | c.279 others(1106): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OSTF1_chr9_75083514_75152265 | 75139049 | T | TTCTTTTC others(1084): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0286 | 1 | 366 | 0.0027 | 1091 | c.487 others(1108): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(1084): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0281a0002c0004t0003g0282 | 2 | 360 | 0.0056 | 1091 | c.*35 others(1102): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1084): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0071 | 1 | 322 | 0.0031 | 1091 | c.*48 others(1102): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1084): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 304 | 0.0033 | 1091 | c.347 others(1106): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1084): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 372 | 0.0027 | 1091 | c.749 others(1106): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM88B_chr1_1420871_1435255 | 1427468 | A | AGCCCCCT others(1084): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0003 | 1 | 4 | 0.2500 | 1091 | c.259 others(1104): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870692 | C | CCCCACAC others(1084): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 338 | 0.0030 | 1091 | c.*35 others(1110): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111247 | A | AACCTGCC others(1085): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0139 | 1 | 368 | 0.0027 | 1092 | c.401 others(1109): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111499 | A | AACCTGCC others(1085): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0142 | 1 | 368 | 0.0027 | 1092 | c.401 others(1109): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1085): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0113 | 1 | 298 | 0.0034 | 1092 | c.955 others(1109): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 405026 | A | AGGGGGGG others(1085): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0095 | 1 | 322 | 0.0031 | 1092 | c.*20 others(1103): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 418 | chr19 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(1085): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0144 | 1 | 284 | 0.0035 | 1092 | c.411 others(1109): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647637 | C | CGCCGACG others(1085): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0030 | 1 | 392 | 0.0026 | 1092 | c.253 others(1107): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647733 | G | GACCCAGT others(1085): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18973.hp1 NA18997.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0280 | 3 | 392 | 0.0077 | 1092 | c.253 others(1107): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648370 | C | CGCGGGGT others(1085): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0166 | 1 | 392 | 0.0026 | 1092 | c.252 others(1107): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648404 | G | GGACCCAG others(1085): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 392 | 0.0026 | 1092 | c.252 others(1107): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648404 | G | GGACCCAG others(1085): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 392 | 0.0026 | 1092 | c.252 others(1107): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648404 | G | GGACCCAG others(1085): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 392 | 0.0026 | 1092 | c.252 others(1107): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar |