regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1L3_chr16_71924538_72005402 | 71946849 | G | GGGGATGG others(1004): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 308 | 0.0033 | 1011 | c.371 others(1028): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(1004): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0003 | a0002c0003t0135 | a0002c0003t0135g0128 | 1 | 210 | 0.0048 | 1011 | c.147 others(1028): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PON3_chr7_95354872_95401375 | 95371278 | T | TGGATAGG others(1004): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073a0001c0004t0001g0074 | 2 | 372 | 0.0054 | 1011 | c.367 others(1026): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
PON3_chr7_95354872_95401375 | 95371278 | T | TGGATAGG others(1004): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0063a0001c0004t0001g0065a0001c0004t0001g0075 | 3 | 372 | 0.0081 | 1011 | c.367 others(1026): Show |
PON3 | ENSG00000105852.11 | transcript | ENST00000265627.10 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1004): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 312 | 0.0032 | 1011 | c.306 others(1030): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RABL6_chr9_136802948_136846187 | 136803215 | G | GGGGGCCC others(1004): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0257 | 1 | 330 | 0.0030 | 1011 | c.-49 others(1022): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4732 | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803232 | A | AGCCCTCT others(1004): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 330 | 0.0030 | 1011 | c.-49 others(1022): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4715 | chr9 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGGCC others(1004): Show |
upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 330 | 0.0030 | 1011 | c.-49 others(1022): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(1004): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0308 | 1 | 312 | 0.0032 | 1011 | c.188 others(1030): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134394154 | G | GGTGATGG others(1004): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0134a0001c0001t0004g0128a0001c0001t0004g0129others(7): Show | 10 | 232 | 0.0431 | 1011 | c.29- others(1026): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC22A23_chr6_3263973_3462050 | 3356090 | C | CGGGGGGG others(1004): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0063 | 1 | 222 | 0.0045 | 1011 | c.914 others(1030): Show |
SLC22A23 | ENSG00000137266.15 | transcript | ENST00000406686.8 | protein_coding | 3/9 | chr6 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(1004): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01346.hp1 HG01358.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0029a0001c0001t0001g0110 | 5 | 422 | 0.0119 | 1011 | c.*64 others(1022): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
STK3_chr8_98449633_98830688 | 98671102 | T | TAACACAC others(1004): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 170 | 0.0059 | 1011 | c.684 others(1030): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(1004): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 268 | 0.0037 | 1011 | c.*73 others(1022): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(1004): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0012 | a0001c0012t0015 | a0001c0012t0015g0083 | 1 | 128 | 0.0078 | 1011 | c.143 others(1032): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TUFT1_chr1_151535309_151588583 | 151558973 | C | CGGGGTTT others(1004): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 366 | 0.0027 | 1011 | c.61- others(1026): Show |
TUFT1 | ENSG00000143367.17 | transcript | ENST00000368849.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TAATAATA others(1004): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0217 | 1 | 238 | 0.0042 | 1011 | c.392 others(1028): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1004): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 394 | 0.0025 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242a0001c0001t0003g0249a0001c0001t0003g0252others(1): Show | 4 | 394 | 0.0102 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01106.hp1 HG03688.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024a0001c0001t0003g0026a0001c0001t0003g0032others(7): Show | 13 | 394 | 0.0330 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 394 | 0.0025 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0282 | 1 | 394 | 0.0025 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01934.hp2 HG02074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0207a0001c0001t0003g0240others(4): Show | 12 | 394 | 0.0305 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0256 | 1 | 394 | 0.0025 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 394 | 0.0025 | 1011 | c.129 others(1028): 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(1004): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 394 | 0.0025 | 1011 | c.129 others(1028): 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(1004): Show |
downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0012 | 1 | 202 | 0.0050 | 1011 | c.*53 others(1022): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1005): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 306 | 0.0033 | 1012 | c.130 others(1031): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1005): Show |
intron_variant | MODIFIER | HG02080.hp2 NA19078.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0125a0001c0002t0005g0126 | 2 | 306 | 0.0065 | 1012 | c.130 others(1031): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1005): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0154a0001c0002t0002g0159a0001c0002t0002g0274 | 3 | 306 | 0.0098 | 1012 | c.130 others(1031): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1005): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 306 | 0.0033 | 1012 | c.130 others(1031): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(1005): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 306 | 0.0033 | 1012 | c.130 others(1031): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAGATAA others(1005): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0009 | a0009c0060 | a0009c0060t0006 | a0009c0060t0006g0199 | 1 | 306 | 0.0033 | 1012 | c.130 others(1031): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668833 | C | CGTCCGGG others(1005): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0011 | a0011c0017 | a0011c0017t0003 | a0011c0017t0003g0050 | 1 | 360 | 0.0028 | 1012 | c.170 others(1033): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1005): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0227 | 1 | 262 | 0.0038 | 1012 | c.775 others(1027): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1005): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0286 | 1 | 318 | 0.0031 | 1012 | c.285 others(1031): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1005): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0223 | 1 | 318 | 0.0031 | 1012 | c.285 others(1031): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1005): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02896.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0004a0001c0027 | a0001c0004t0002a0001c0004t0052a0001c0027t0056 | a0001c0004t0002g0144a0001c0004t0002g0211a0001c0004t0052g0281others(1): Show | 4 | 290 | 0.0138 | 1012 | c.166 others(1031): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1005): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0002t0006others(5): Show | a0001c0001t0003g0135a0001c0001t0003g0141a0001c0001t0003g0219others(7): Show | 10 | 290 | 0.0345 | 1012 | c.166 others(1031): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1005): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0123 | 1 | 290 | 0.0035 | 1012 | c.166 others(1031): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1005): Show |
downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 1012 | c.*36 others(1023): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1005): Show |
intron_variant | MODIFIER | HG03688.hp1 HG03942.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0167a0001c0001t0001g0181 | 3 | 326 | 0.0092 | 1012 | c.327 others(1029): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411193 | C | CCTGCTGG others(1005): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0061 | 1 | 322 | 0.0031 | 1012 | c.-22 others(1023): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2047 | chr19 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802944 | G | GGGGGCCC others(1005): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 398 | 0.0025 | 1012 | c.666 others(1027): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1198437 | C | CAGGACAC others(1005): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0016 | a0016c0030 | a0016c0030t0003 | a0016c0030t0003g0126 | 1 | 167 | 0.0060 | 1012 | c.646 others(1027): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111326120 | G | GTTTTGTT others(1005): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012a0001c0001t0002g0085a0001c0001t0002g0086 | 3 | 100 | 0.0300 | 1012 | c.292 others(1031): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(1005): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0218 | 1 | 324 | 0.0031 | 1012 | c.340 others(1029): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIRAS1_chr19_2709567_2726372 | 2713581 | C | CCACCCCC others(1005): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 1012 | c.*36 others(1023): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 985 | chr19 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1005): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 358 | 0.0028 | 1012 | c.236 others(1031): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1005): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 358 | 0.0028 | 1012 | c.236 others(1031): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar |