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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 149 | 0.0067 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0140 |
2 | 150 | 0.0133 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0154 |
3 | 279 | 0.0108 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | HG01256.hp1 NA18944.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0126 a0001c0001t0001g0312 others(1): Show |
4 | 280 | 0.0143 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 277 | 0.0036 | 1076 | c.129 others(1093): 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(1069): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 277 | 0.0036 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670531 | T | TCCGTGCA others(1069): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0275 | 1 | 389 | 0.0026 | 1076 | c.129 others(1093): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(1070): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0004 | a0004c0075 | a0004c0075t0001 | a0004c0075t0001g0186 | 1 | 25 | 0.0400 | 1077 | c.259 others(1098): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(1070): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0029 | a0002c0029t0002 | a0002c0029t0002g0067 | 1 | 40 | 0.0250 | 1077 | c.118 others(1096): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45224512 | A | AGGAACTG others(1070): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0107 | a0001c0002t0107g0138 | 1 | 13 | 0.0769 | 1077 | c.*23 others(1088): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2342 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1070): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 | 1 | 3 | 0.3333 | 1077 | c.787 others(1092): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972300 | T | TGACCACA others(1070): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0081 | 1 | 95 | 0.0105 | 1077 | c.460 others(1094): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1070): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 10 | 0.1000 | 1077 | c.327 others(1094): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1070): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0042 | 1 | 8 | 0.1250 | 1077 | c.328 others(1094): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(1070): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0233 | 1 | 220 | 0.0045 | 1077 | c.*51 others(1088): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252977 | C | CCACCACC others(1070): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0245 | 1 | 355 | 0.0028 | 1077 | c.666 others(1094): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399448 | T | TCACCACC others(1070): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 288 | 0.0035 | 1077 | c.-25 others(1094): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859153 | C | CAGTGGTG others(1070): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0018a0001c0020 | a0001c0018t0001a0001c0020t0001 | a0001c0018t0001g0242 a0001c0020t0001g0097 |
2 | 283 | 0.0071 | 1077 | c.153 others(1096): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1070): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 2 | 0.5000 | 1077 | c.162 others(1096): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGAGGGG others(1070): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01256.hp2 HG01928.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0193 a0001c0001t0001g0239 others(1): Show |
4 | 5 | 0.8000 | 1077 | c.162 others(1096): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
RAD54L2_chr3_51533719_51673660 | 51596086 | G | GCCCAGCT others(1070): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0010 | a0001c0010t0040 | a0001c0010t0040g0009 | 1 | 236 | 0.0042 | 1077 | c.139 others(1094): Show |
RAD54L2 | ENSG00000164080.14 | transcript | ENST00000684192.1 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCTCTCAC others(1070): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 2 | 0.5000 | 1077 | c.438 others(1094): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934420 | T | TATATATA others(1070): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0291 | 1 | 303 | 0.0033 | 1077 | c.115 others(1094): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594832 | G | GAGCATCT others(1070): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18990.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0002t0002g0013 |
3 | 84 | 0.0357 | 1077 | c.638 others(1094): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642262 | T | TGGGGGGA others(1070): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0048 | 1 | 400 | 0.0025 | 1077 | c.*64 others(1088): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4352 | chr20 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1070): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 28 | 0.0357 | 1077 | c.113 others(1096): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1070): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0126 | 1 | 28 | 0.0357 | 1077 | c.113 others(1096): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(1070): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 98 | 0.0102 | 1077 | c.228 others(1096): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273788 | C | CCGATCAC others(1070): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 98 | 0.0102 | 1077 | c.228 others(1096): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TEX29_chr13_111315642_111349248 | 111341508 | A | AATCATAA others(1070): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 389 | 0.0026 | 1077 | c.240 others(1094): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870478 | A | ACACCCCA others(1070): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 262 | 0.0038 | 1077 | c.*35 others(1096): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1070): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0139 |
2 | 150 | 0.0133 | 1077 | c.129 others(1094): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533537 | C | CCCTCCCT others(1070): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0007 | 1 | 53 | 0.0189 | 1077 | c.*20 others(1086): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 80 | chrX | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236756457 | A | AATAGAGT others(1071): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0028 | a0001c0028t0026 | a0001c0028t0026g0107 | 1 | 298 | 0.0034 | 1078 | c.215 others(1095): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100276332 | G | GGGTGGGA others(1071): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0004 | a0004c0031 | a0004c0031t0003 | a0004c0031t0003g0008 | 1 | 224 | 0.0045 | 1078 | c.789 others(1095): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 4/21 | chr15 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 376527 | G | GGAAACAC others(1071): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0254 | 1 | 261 | 0.0038 | 1078 | c.245 others(1091): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1071): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0059 |
2 | 4 | 0.5000 | 1078 | c.787 others(1093): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(1071): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0205 a0001c0001t0011g0206 |
2 | 85 | 0.0235 | 1078 | c.173 others(1095): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1071): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 a0001c0002t0003g0124 a0001c0002t0003g0166 others(1): Show |
4 | 75 | 0.0533 | 1078 | c.273 others(1095): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1071): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01168.hp2 HG01261.hp1 others(5): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0006 a0001c0002t0001g0022 a0001c0002t0001g0027 others(5): Show |
8 | 17 | 0.4706 | 1078 | c.327 others(1095): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803290 | C | CCCAGGGC others(1071): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 344 | 0.0029 | 1078 | c.666 others(1093): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61716380 | G | GCTGGACC others(1071): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 93 | 0.0108 | 1078 | c.170 others(1097): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 2 | 0.5000 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(127): Show |
a0001a0002a0006others(9): Show | a0001c0001a0001c0012a0001c0018others(15): Show | a0001c0001t0001a0001c0012t0001a0001c0018t0001others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(105): Show |
130 | 131 | 0.9924 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 2 | 0.5000 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01192.hp2 others(1): Show |
a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0018 a0009c0011t0001g0172 a0009c0011t0001g0224 |
4 | 5 | 0.8000 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1071): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 |
2 | 3 | 0.6667 | 1078 | c.273 others(1093): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(1071): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0001 | 1 | 8 | 0.1250 | 1078 | c.*69 others(1089): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1071): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02723.hp1 others(3): Show |
a0011a0032a0038 | a0011c0014a0032c0048a0038c0075 | a0011c0014t0001a0032c0048t0001a0038c0075t0001 | a0011c0014t0001g0038 a0011c0014t0001g0039 a0011c0014t0001g0041 others(3): Show |
6 | 13 | 0.4615 | 1078 | c.328 others(1095): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1071): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0003 | a0003c0003t0034 | a0003c0003t0034g0031 | 1 | 69 | 0.0145 | 1078 | c.*52 others(1089): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar |