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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1085): Show |
intron_variant | MODIFIER | HG02071.hp1 HG04115.hp2 HG04228.hp2 others(9): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0027 others(9): Show |
12 | 284 | 0.0423 | 1092 | c.157 others(1111): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1085): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 273 | 0.0037 | 1092 | c.157 others(1111): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377575 | T | TCTGTGCC others(1085): Show |
upstream_gene_variant | MODIFIER | NA18947.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 350 | 0.0029 | 1092 | c.-16 others(1103): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1550 | chr19 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1085): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0155 | 1 | 103 | 0.0097 | 1092 | c.749 others(1107): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1085): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0186 |
3 | 151 | 0.0199 | 1092 | c.129 others(1109): 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(1085): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 149 | 0.0067 | 1092 | c.129 others(1109): 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(1085): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 149 | 0.0067 | 1092 | c.129 others(1109): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1085): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 277 | 0.0036 | 1092 | c.129 others(1109): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1085): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 277 | 0.0036 | 1092 | c.129 others(1109): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1085): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 100 | 0.0100 | 1092 | c.-10 others(1109): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289848 | T | TCTCTGCC others(1086): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 247 | 0.0040 | 1093 | c.*37 others(1104): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2542 | chr1 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111675 | C | CACCACGG others(1086): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0040 | 1 | 180 | 0.0056 | 1093 | c.401 others(1110): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1086): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 a0001c0001t0001g0189 |
2 | 4 | 0.5000 | 1093 | c.787 others(1108): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251508 | G | GGGGGAGG others(1086): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 196 | 0.0051 | 1093 | c.927 others(1110): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCGTGA others(1086): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 209 | 0.0048 | 1093 | c.-16 others(1104): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1086): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19091.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0060 a0001c0002t0001g0061 |
2 | 220 | 0.0091 | 1093 | c.327 others(1110): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404709 | A | ACGGGGTC others(1086): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 217 | 0.0046 | 1093 | c.*23 others(1104): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 735 | chr19 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1086): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(37): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0004a0002c0002others(4): Show | a0001c0003t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0003t0001g0293 a0001c0004t0001g0025 a0001c0004t0001g0268 others(34): Show |
40 | 41 | 0.9756 | 1093 | c.273 others(1108): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1086): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0292 | 1 | 2 | 0.5000 | 1093 | c.273 others(1108): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1086): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0048 | a0048c0034 | a0048c0034t0003 | a0048c0034t0003g0305 | 1 | 2 | 0.5000 | 1093 | c.273 others(1108): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1086): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0069 a0003c0005t0002g0218 |
2 | 178 | 0.0112 | 1093 | c.342 others(1114): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1086): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0237 | 1 | 8 | 0.1250 | 1093 | c.328 others(1110): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929391 | A | ACAGGTCT others(1086): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0052 | 1 | 273 | 0.0037 | 1093 | c.328 others(1110): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1086): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0076 | a0076c0218 | a0076c0218t0001 | a0076c0218t0001g0123 | 1 | 98 | 0.0102 | 1093 | c.118 others(1112): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1086): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0007 | a0007c0168 | a0007c0168t0001 | a0007c0168t0001g0172 | 1 | 98 | 0.0102 | 1093 | c.118 others(1112): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120414 | A | AGGAAATG others(1086): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19068.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0107 a0002c0003t0009g0108 |
2 | 184 | 0.0109 | 1093 | c.353 others(1108): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(1086): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02300.hp2 HG02523.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0130 |
3 | 162 | 0.0185 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 1 | 147 | 0.0068 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02922.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0161 a0001c0001t0005g0044 a0001c0001t0008g0143 others(2): Show |
5 | 151 | 0.0331 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013 a0001c0002t0003g0015 |
2 | 148 | 0.0135 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144233382 | A | ACCCACCA others(1086): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 134 | 0.0075 | 1093 | c.133 others(1112): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(1086): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 101 | 0.0099 | 1093 | c.133 others(1112): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1086): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0054 | a0054c0101 | a0054c0101t0001 | a0054c0101t0001g0100 | 1 | 102 | 0.0098 | 1093 | c.252 others(1112): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1086): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG06807.hp2 others(3): Show |
a0034a0035a0050others(3): Show | a0034c0054a0035c0124a0050c0048others(3): Show | a0034c0054t0001a0035c0124t0001a0050c0048t0001others(3): Show | a0034c0054t0001g0079 a0035c0124t0001g0015 a0050c0048t0001g0091 others(3): Show |
6 | 107 | 0.0561 | 1093 | c.252 others(1112): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(1086): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0029 | a0029c0046 | a0029c0046t0040 | a0029c0046t0040g0179 | 1 | 2 | 0.5000 | 1093 | c.45+ others(1104): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934293 | A | AGGCGGCT others(1086): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 379 | 0.0026 | 1093 | c.843 others(1110): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1086): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 39 | 0.0256 | 1093 | c.115 others(1110): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1086): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0320 | 1 | 103 | 0.0097 | 1093 | c.749 others(1108): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(1086): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0168 | 1 | 98 | 0.0102 | 1093 | c.41- others(1110): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1086): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 277 | 0.0036 | 1093 | c.129 others(1110): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1086): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 277 | 0.0036 | 1093 | c.129 others(1110): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917251 | G | GGAGGCTG others(1086): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0006 | a0001c0006t0028 | a0001c0006t0028g0184 | 1 | 334 | 0.0030 | 1093 | c.218 others(1110): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975241 | T | TTATAAAT others(1087): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 194 | 0.0052 | 1094 | c.130 others(1113): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145514 | A | ATATTATA others(1087): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0043 | 1 | 396 | 0.0025 | 1094 | c.*40 others(1105): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3491 | chr22 | TogoVar | |||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1087): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0196 | 1 | 236 | 0.0042 | 1094 | c.403 others(1109): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1087): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0029 | a0029c0067 | a0029c0067t0001 | a0029c0067t0001g0126 | 1 | 2 | 0.5000 | 1094 | c.273 others(1109): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1087): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0053 | a0010c0053t0001 | a0010c0053t0001g0219 | 1 | 8 | 0.1250 | 1094 | c.328 others(1111): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929386 | A | AGGGGACA others(1087): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0243 | 1 | 275 | 0.0036 | 1094 | c.328 others(1111): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134729536 | A | ATGCGGGC others(1087): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 214 | 0.0047 | 1094 | c.925 others(1109): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588075 | T | TACCCGCG others(1087): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 125 | 0.0080 | 1094 | c.928 others(1109): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |