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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 87256705 | T | TTTGCTAG others(2387): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0116 | 1 | 152 | 0.0066 | 2394 | c.771 others(2413): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256705 | T | TTTGCTAG others(2387): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00741.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(36): Show |
39 | 152 | 0.2566 | 2394 | c.771 others(2413): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256705 | T | TTTGCTAG others(2387): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03516.hp1 |
a0005a0008 | a0005c0007a0008c0010 | a0005c0007t0002a0008c0010t0002 | a0005c0007t0002g0144 a0008c0010t0002g0072 |
2 | 152 | 0.0132 | 2394 | c.771 others(2413): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256705 | T | TTTGCTAG others(2387): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 152 | 0.0066 | 2394 | c.771 others(2413): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87256705 | T | TTTGCTAG others(2387): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 152 | 0.0066 | 2394 | c.771 others(2413): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231799878 | C | CCTCCTTC others(2387): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 40 | 0.0250 | 2394 | c.169 others(2411): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2387): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0071 | 1 | 292 | 0.0034 | 2394 | c.228 others(2411): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2387): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0019 | a0019c0111 | a0019c0111t0001 | a0019c0111t0001g0247 | 1 | 369 | 0.0027 | 2394 | c.-50 others(2405): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2387): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0347 | 1 | 369 | 0.0027 | 2394 | c.-50 others(2405): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2387): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 318 | 0.0031 | 2394 | c.-91 others(2415): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871889 | A | AGAGCGGG others(2387): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0030 | 1 | 56 | 0.0179 | 2394 | c.209 others(2409): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCCCGAGT others(2387): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 290 | 0.0035 | 2394 | c.166 others(2411): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431782 | G | GTGGTTAG others(2387): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0057 | 1 | 376 | 0.0027 | 2394 | c.101 others(2413): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2387): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0354 | 1 | 376 | 0.0027 | 2394 | c.101 others(2411): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(2387): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 373 | 0.0027 | 2394 | c.115 others(2411): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(2387): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 373 | 0.0027 | 2394 | c.115 others(2411): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10193454 | T | TAAGAAAA others(2387): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02015.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0005a0001c0010t0005 | a0001c0001t0005g0011 a0001c0001t0005g0056 a0001c0010t0005g0121 |
4 | 430 | 0.0093 | 2394 | c.*33 others(2405): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1651 | chr12 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2387): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 126 | 0.0079 | 2394 | c.-28 others(2413): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2388): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 316 | 0.0032 | 2395 | c.44- others(2408): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2388): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 116 | 0.0086 | 2395 | c.522 others(2412): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2388): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0072 | 1 | 116 | 0.0086 | 2395 | c.522 others(2412): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2388): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0031 | a0001c0001t0030g0108 a0001c0001t0031g0109 |
2 | 116 | 0.0172 | 2395 | c.522 others(2412): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870330 | A | ACCCCATA others(2388): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 338 | 0.0030 | 2395 | c.*35 others(2414): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882004 | G | GGGGAGAA others(2389): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0136 | 1 | 288 | 0.0035 | 2396 | c.303 others(2415): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799899 | C | CCCTCCCT others(2389): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0019 | 1 | 40 | 0.0250 | 2396 | c.169 others(2413): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2389): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 128 | 0.0078 | 2396 | c.153 others(2415): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 514123 | T | TCTCCTCC others(2389): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0011 | a0011c0009 | a0011c0009t0008 | a0011c0009t0008g0229 | 1 | 254 | 0.0039 | 2396 | c.-84 others(2413): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2389): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0091 | 1 | 116 | 0.0086 | 2396 | c.522 others(2413): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10193454 | T | TAAGAAAA others(2389): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0055 a0001c0001t0005g0057 |
2 | 430 | 0.0047 | 2396 | c.*33 others(2407): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1651 | chr12 | TogoVar | |||||||
TMEM52B_chr12_10174032_10196804 | 10193454 | T | TAAGAAAA others(2389): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 430 | 0.0023 | 2396 | c.*33 others(2407): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1651 | chr12 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2390): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0013 | 1 | 298 | 0.0034 | 2397 | c.126 others(2414): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2390): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 128 | 0.0078 | 2397 | c.153 others(2416): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2390): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 116 | 0.0086 | 2397 | c.522 others(2414): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469978 | A | AGGGAGGA others(2391): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0060 | 1 | 104 | 0.0096 | 2398 | c.354 others(2417): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287440 | T | TACATACT others(2391): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 448 | 0.0022 | 2398 | c.51+ others(2413): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(2391): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0003 | a0003c0004 | a0003c0004t0015 | a0003c0004t0015g0012 | 1 | 40 | 0.0250 | 2398 | c.169 others(2415): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2391): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 292 | 0.0034 | 2398 | c.228 others(2415): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2391): Show |
upstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0026 | 1 | 369 | 0.0027 | 2398 | c.-50 others(2409): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45710951 | G | GGAGGTTG others(2391): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18959.hp1 |
a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0075 a0002c0004t0006g0076 |
2 | 128 | 0.0156 | 2398 | c.153 others(2417): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2391): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0116 | 1 | 116 | 0.0086 | 2398 | c.522 others(2415): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2391): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0106 | 1 | 292 | 0.0034 | 2398 | c.218 others(2413): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841445 | C | CACCCTGA others(2391): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 242 | 0.0041 | 2398 | c.361 others(2417): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502694 | G | GGGGGGAC others(2391): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0168 | 1 | 188 | 0.0053 | 2398 | c.147 others(2415): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(2391): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 373 | 0.0027 | 2398 | c.115 others(2415): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23044197 | T | TTAACCCC others(2391): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 351 | 0.0029 | 2398 | c.-46 others(2409): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4629 | chr15 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2392): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0314 | 1 | 434 | 0.0023 | 2399 | c.16+ others(2414): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2392): Show |
intron_variant | MODIFIER | HG03669.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 a0001c0001t0005g0210 |
2 | 434 | 0.0046 | 2399 | c.16+ others(2414): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2392): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 346 | 0.0029 | 2399 | c.-17 others(2410): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323557 | T | TGTGTGTG others(2392): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0017 | 1 | 155 | 0.0065 | 2399 | c.-47 others(2410): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4762 | chrX | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2392): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0094 | a0094c0075 | a0094c0075t0001 | a0094c0075t0001g0144 | 1 | 216 | 0.0046 | 2399 | c.801 others(2416): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |