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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKP3_chr11_389209_409908 | 398269 | A | ACCCGCAC others(857): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0011 | a0011c0024 | a0011c0024t0002 | a0011c0024t0002g0026 | 1 | 199 | 0.0050 | 864 | c.106 others(881): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167965 | T | TCTTTCTC others(857): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0201 | 1 | 261 | 0.0038 | 864 | c.306 others(883): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(857): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0276 | 1 | 67 | 0.0149 | 864 | c.306 others(883): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150197676 | C | CCACGGTG others(857): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02074.hp2 HG02738.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0003g0032 others(3): Show |
6 | 289 | 0.0208 | 864 | c.307 others(883): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRB2_chr12_11386540_11400567 | 11393452 | C | CCTCCTTG others(857): Show |
conservative_inframe_insertion | MODERATE | HG02273.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0038 | 1 | 408 | 0.0025 | 864 | c.625 others(871): Show |
p.Gly others(877): Show |
PRB2 | ENSG00000121335.12 | transcript | ENST00000389362.6 | protein_coding | 3/4 | 663/1431 | 625/1251 | 209/416 | chr12 | TogoVar | |||
PRPF31_chr19_54110754_54136713 | 54133834 | T | TCCCTCTC others(857): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 219 | 0.0046 | 864 | c.*24 others(875): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2122 | chr19 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(857): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0071 | 1 | 19 | 0.0526 | 864 | c.24+ others(881): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(857): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0075 |
2 | 200 | 0.0100 | 864 | c.-26 others(883): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322971 | T | TTATATTA others(857): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 125 | 0.0080 | 864 | c.389 others(885): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77355126 | C | CGCATACC others(857): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01071.hp1 HG01081.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0035 others(23): Show |
26 | 145 | 0.1793 | 864 | c.389 others(885): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77355126 | C | CGCATACC others(857): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0045 | a0001c0001t0003g0140 a0001c0001t0045g0072 |
2 | 121 | 0.0165 | 864 | c.389 others(885): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744459 | A | ACTAGCAC others(857): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0093 | a0001c0093t0070 | a0001c0093t0070g0157 | 1 | 187 | 0.0053 | 864 | c.655 others(881): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(857): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0083 | a0001c0083t0028 | a0001c0083t0028g0158 | 1 | 159 | 0.0063 | 864 | c.655 others(881): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744847 | T | TCCTGGCT others(857): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0093 | a0001c0093t0070 | a0001c0093t0070g0157 | 1 | 122 | 0.0082 | 864 | c.655 others(881): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(857): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0185 | 1 | 2 | 0.5000 | 864 | c.-12 others(883): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(857): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0079 | 1 | 105 | 0.0095 | 864 | c.284 others(883): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431966 | A | ATAGGGTG others(857): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0350 | 1 | 345 | 0.0029 | 864 | c.101 others(881): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(857): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0218 | 1 | 304 | 0.0033 | 864 | c.101 others(881): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432129 | T | TAGGGTGG others(857): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0001 | 1 | 296 | 0.0034 | 864 | c.101 others(881): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642271 | G | GGCCCAGC others(857): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 7 | 0.1429 | 864 | c.*64 others(875): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4343 | chr20 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63595831 | A | ATAATTTT others(857): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 245 | 0.0041 | 864 | c.409 others(883): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273262 | A | ACACATCA others(857): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 365 | 0.0027 | 864 | c.228 others(881): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THBS2_chr6_169210785_169258846 | 169242634 | A | ACTCCCAC others(857): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0006 | a0006c0034 | a0006c0034t0001 | a0006c0034t0001g0251 | 1 | 301 | 0.0033 | 864 | c.695 others(879): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(857): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0073 | 1 | 125 | 0.0080 | 864 | c.41- others(881): 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(857): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 277 | 0.0036 | 864 | c.129 others(881): 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(857): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02723.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 |
3 | 279 | 0.0108 | 864 | c.129 others(881): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(857): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 2 | 0.5000 | 864 | c.*53 others(875): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(857): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 9 | 0.1111 | 864 | c.917 others(883): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159113 | T | TACATGTA others(858): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0004 | a0004c0004t0026 | a0004c0004t0026g0000 | 1 | 119 | 0.0084 | 865 | c.*10 others(878): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2565 | chr13 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(858): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 27 | 0.0370 | 865 | c.94+ others(880): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(858): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01123.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0029 a0001c0001t0001g0145 a0001c0001t0013g0144 |
4 | 30 | 0.1333 | 865 | c.94+ others(880): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(858): Show |
intron_variant | MODIFIER | NA19240.hp2 NA20752.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0038 a0001c0001t0005g0212 |
3 | 29 | 0.1034 | 865 | c.94+ others(880): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045800 | C | CCAACACC others(858): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0114 | 1 | 388 | 0.0026 | 865 | c.109 others(880): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG01167.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0008 | a0001c0001t0005g0040 a0001c0002t0008g0108 |
2 | 51 | 0.0392 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02486.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0019a0001c0001t0020others(10): Show | a0001c0001t0002g0032 a0001c0001t0002g0088 a0001c0001t0019g0084 others(11): Show |
14 | 63 | 0.2222 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0109 | a0001c0001t0109g0161 | 1 | 50 | 0.0200 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0002 | a0001c0002t0016a0001c0002t0054 | a0001c0002t0016g0166 a0001c0002t0054g0019 |
2 | 51 | 0.0392 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0055 | 1 | 50 | 0.0200 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02293.hp2 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0003g0012 a0001c0001t0006g0187 a0001c0001t0014g0147 others(2): Show |
5 | 54 | 0.0926 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0111a0001c0001t0113a0001c0002t0008 | a0001c0001t0111g0028 a0001c0001t0113g0034 a0001c0002t0008g0113 others(1): Show |
4 | 53 | 0.0755 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0062 | a0001c0001t0026g0143 a0001c0001t0062g0144 |
2 | 51 | 0.0392 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0081 | 1 | 50 | 0.0200 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12413574 | G | GGATGATG others(858): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0046 a0001c0001t0001g0095 a0001c0001t0001g0130 others(29): Show |
32 | 81 | 0.3951 | 865 | c.92+ others(882): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500881 | T | TGTGTGGG others(858): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 272 | 0.0037 | 865 | c.268 others(884): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(858): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00673.hp2 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0002g0081 others(61): Show |
64 | 66 | 0.9697 | 865 | c.110 others(882): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(858): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0012 | a0001c0012t0051 | a0001c0012t0051g0085 | 1 | 3 | 0.3333 | 865 | c.110 others(882): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(858): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 3 | 0.3333 | 865 | c.110 others(882): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875288 | C | CCCCACCC others(858): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0056 | 1 | 318 | 0.0031 | 865 | c.*39 others(876): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2454 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(858): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 181 | 0.0055 | 865 | c.*14 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486887 | C | CCTGCCCA others(858): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 366 | 0.0027 | 865 | c.*14 others(876): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1126 | chr20 | TogoVar |