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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(974): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 10 | 0.1000 | 981 | c.-48 others(992): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(974): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01069.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show |
22 | 31 | 0.7097 | 981 | c.-48 others(992): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(974): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 10 | 0.1000 | 981 | c.-48 others(992): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(974): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
4 | 13 | 0.3077 | 981 | c.-48 others(992): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668881 | T | TCCCCTCA others(974): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0008 | 1 | 249 | 0.0040 | 981 | c.249 others(1000): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976264 | T | TAGAGGGT others(974): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0026 | a0026c0028 | a0026c0028t0049 | a0026c0028t0049g0035 | 1 | 14 | 0.0714 | 981 | c.199 others(1000): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432115 | G | GTGGATAG others(974): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0320 | 1 | 358 | 0.0028 | 981 | c.101 others(998): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50678936 | A | ATGATGGG others(974): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0223 | 1 | 250 | 0.0040 | 981 | c.257 others(1000): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637499 | A | ATATATAA others(974): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0035 | 1 | 266 | 0.0038 | 981 | c.*73 others(992): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3965 | chr10 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(974): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(1): Show |
4 | 149 | 0.0268 | 981 | c.114 others(998): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(974): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 146 | 0.0068 | 981 | c.114 others(998): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(975): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0264 | 1 | 201 | 0.0050 | 982 | c.130 others(1001): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(975): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 | 1 | 201 | 0.0050 | 982 | c.130 others(1001): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(975): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0086 | 1 | 201 | 0.0050 | 982 | c.130 others(1001): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(975): Show |
intron_variant | MODIFIER | NA19009.hp2 NA19085.hp1 |
a0001 | a0001c0001a0001c0036 | a0001c0001t0001a0001c0036t0003 | a0001c0001t0001g0259 a0001c0036t0003g0243 |
2 | 202 | 0.0099 | 982 | c.130 others(1001): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975476 | T | TATAAATA others(975): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0181 | 1 | 228 | 0.0044 | 982 | c.130 others(1001): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(975): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0328 | 1 | 202 | 0.0050 | 982 | c.61+ others(997): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(975): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0032 | 1 | 44 | 0.0227 | 982 | c.108 others(999): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(975): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0030 | 1 | 44 | 0.0227 | 982 | c.108 others(999): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(975): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0045 | 1 | 44 | 0.0227 | 982 | c.108 others(999): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144669258 | A | ACACTTTG others(975): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 149 | 0.0067 | 982 | c.-82 others(1001): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144669258 | A | ACACTTTG others(975): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0011 | a0001c0001t0001a0001c0001t0003a0001c0004t0006others(1): Show | a0001c0001t0001g0233 a0001c0001t0003g0058 a0001c0001t0003g0063 others(8): Show |
11 | 159 | 0.0692 | 982 | c.-82 others(1001): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144669258 | A | ACACTTTG others(975): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0072 a0001c0001t0001g0174 a0001c0002t0001g0076 others(1): Show |
4 | 152 | 0.0263 | 982 | c.-82 others(1001): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(975): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0011 | 1 | 112 | 0.0089 | 982 | c.217 others(1001): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(975): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 112 | 0.0089 | 982 | c.217 others(1001): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(975): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 10 | 0.1000 | 982 | c.327 others(999): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(975): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0166 | 1 | 10 | 0.1000 | 982 | c.327 others(999): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(975): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0140 a0001c0001t0001g0161 a0001c0001t0001g0167 others(1): Show |
4 | 13 | 0.3077 | 982 | c.327 others(999): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(975): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 302 | 0.0033 | 982 | c.891 others(999): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(975): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01358.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0242 a0001c0001t0001g0246 others(2): Show |
5 | 306 | 0.0163 | 982 | c.891 others(999): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(975): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0192 others(7): Show |
13 | 314 | 0.0414 | 982 | c.891 others(999): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(975): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 302 | 0.0033 | 982 | c.891 others(999): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(975): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 6 | 0.1667 | 982 | c.380 others(999): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(975): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 6 | 0.1667 | 982 | c.380 others(999): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(975): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01433.hp2 HG02004.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0205 a0001c0001t0001g0209 a0003c0006t0001g0208 |
3 | 90 | 0.0333 | 982 | c.*23 others(993): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(975): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0211 | 1 | 88 | 0.0114 | 982 | c.*23 others(993): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(975): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 169 | 0.0059 | 982 | c.119 others(1001): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(975): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 62 | 0.0161 | 982 | c.-21 others(993): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103629 | G | GGGGGAGG others(975): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0094 | 1 | 253 | 0.0040 | 982 | c.623 others(999): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(975): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 128 | 0.0078 | 982 | c.-43 others(993): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(975): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG02004.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 2 | 129 | 0.0155 | 982 | c.-43 others(993): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(975): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 128 | 0.0078 | 982 | c.-43 others(993): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124805580 | C | CAGCTGGG others(975): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0132 | 1 | 350 | 0.0029 | 982 | c.126 others(1001): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(975): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0278 a0002c0002t0002g0279 |
2 | 208 | 0.0096 | 982 | c.126 others(999): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(975): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0072 | 1 | 8 | 0.1250 | 982 | c.115 others(999): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(975): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0168 | 1 | 24 | 0.0417 | 982 | c.371 others(999): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(975): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 24 | 0.0417 | 982 | c.371 others(999): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(975): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 24 | 0.0417 | 982 | c.371 others(999): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80748289 | G | GGGGGCTG others(975): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG06807.hp2 |
a0001 | a0001c0011a0001c0046a0001c0050 | a0001c0011t0024a0001c0046t0024a0001c0050t0006 | a0001c0011t0024g0148 a0001c0046t0024g0164 a0001c0050t0006g0147 |
3 | 173 | 0.0173 | 982 | c.655 others(999): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934358 | C | CATATATA others(975): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 166 | 0.0060 | 982 | c.115 others(999): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar |