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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(938): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02922.hp2 others(2): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0165a0008c0009t0001g0166a0008c0009t0001g0167others(2): Show | 5 | 268 | 0.0187 | 945 | c.266 others(962): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
THOP1_chr19_2780503_2820807 | 2818549 | A | ACAAGGGT others(938): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0038a0001c0003t0006g0171a0001c0003t0006g0173 | 4 | 370 | 0.0108 | 945 | c.*52 others(956): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 2743 | chr19 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328643 | T | TCTGTGTC others(938): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328643 | T | TCTGTGTC others(938): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0057 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 2 | 432 | 0.0046 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0230 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232a0001c0001t0002g0258 | 2 | 432 | 0.0046 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0066 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011a0001c0001t0003g0125 | 6 | 432 | 0.0139 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01496.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0034 | a0001c0001t0005g0003a0001c0001t0034g0003 | 14 | 432 | 0.0324 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0069 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0250 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(938): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 432 | 0.0023 | 945 | c.199 others(962): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMC6_chr17_78102397_78133755 | 78115828 | G | GGCGAAGG others(938): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0219 | 1 | 444 | 0.0023 | 945 | c.227 others(964): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78115828 | G | GGCGAAGG others(938): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 444 | 0.0023 | 945 | c.227 others(964): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
TMEM132C_chr12_128262170_128712911 | 128708344 | G | GACTCACC others(938): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0003 | 1 | 170 | 0.0059 | 945 | c.*20 others(956): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 434 | chr12 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(938): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0014 | 1 | 80 | 0.0125 | 945 | c.497 others(966): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(938): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01243.hp2 others(12): Show |
a0001a0008 | a0001c0002a0001c0008a0001c0024others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(3): Show | a0001c0002t0001g0190a0001c0002t0001g0264a0001c0002t0001g0265others(12): Show | 15 | 382 | 0.0393 | 945 | c.728 others(962): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(938): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0300 | 1 | 394 | 0.0025 | 945 | c.129 others(962): 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(938): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0008 | 1 | 202 | 0.0050 | 945 | c.*53 others(956): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159101921 | A | AACTGTTC others(938): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0042 | 1 | 336 | 0.0030 | 945 | c.357 others(962): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(938): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0021 | 1 | 310 | 0.0032 | 945 | c.-13 others(956): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(938): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0236 | 1 | 326 | 0.0031 | 945 | c.483 others(960): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(938): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0002 | 1 | 431 | 0.0023 | 945 | c.*37 others(956): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(938): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0117 | 1 | 350 | 0.0029 | 945 | c.-35 others(956): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | ||||||
ZNF554_chr19_2814868_2841735 | 2818549 | A | ACAAGGGT others(938): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0053 | a0001c0001t0003g0050a0001c0001t0003g0052a0001c0001t0053g0051 | 3 | 410 | 0.0073 | 945 | c.-15 others(956): Show |
ZNF554 | ENSG00000172006.12 | transcript | ENST00000317243.10 | protein_coding | 1318 | chr19 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714689 | T | TAACCACT others(939): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0093 | 1 | 344 | 0.0029 | 946 | c.127 others(963): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(939): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0102 | 1 | 363 | 0.0028 | 946 | c.37+ others(959): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1844397 | T | TGACAGAG others(939): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0118 | 1 | 363 | 0.0028 | 946 | c.37+ others(959): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ASMTL_chrX_1398139_1457909 | 1404690 | G | GTAGATAG others(939): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0099 | 1 | 185 | 0.0054 | 946 | c.164 others(965): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803045 | C | CGGATGGG others(939): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 398 | 0.0025 | 946 | c.666 others(961): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803079 | C | CGGGGGCC others(939): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255a0001c0001t0002g0256a0001c0001t0002g0318 | 3 | 398 | 0.0075 | 946 | c.666 others(961): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882096 | G | GGAGAAGG others(939): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18972.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127a0001c0001t0002g0129a0001c0001t0002g0141 | 3 | 288 | 0.0104 | 946 | c.303 others(965): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(939): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 NA19072.hp2 NA19090.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0003 | a0001c0001t0001g0178a0001c0001t0001g0198a0001c0001t0003g0064others(1): Show | 4 | 418 | 0.0096 | 946 | c.*51 others(957): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(939): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01346.hp1 HG01496.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0001g0027others(9): Show | 13 | 418 | 0.0311 | 946 | c.*51 others(957): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(939): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG03831.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0158a0001c0001t0001g0174a0001c0001t0001g0175others(1): Show | 4 | 418 | 0.0096 | 946 | c.*51 others(957): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(939): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0021 | 1 | 236 | 0.0042 | 946 | c.342 others(965): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(939): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0018 | 1 | 236 | 0.0042 | 946 | c.342 others(965): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(939): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0215 | 1 | 358 | 0.0028 | 946 | c.236 others(965): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(939): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 358 | 0.0028 | 946 | c.236 others(965): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(939): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0017 | a0004c0017t0025 | a0004c0017t0025g0028 | 1 | 358 | 0.0028 | 946 | c.236 others(965): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(939): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18964.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056a0001c0001t0003g0057a0001c0001t0003g0058 | 3 | 358 | 0.0084 | 946 | c.236 others(965): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(939): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 358 | 0.0028 | 946 | c.236 others(965): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar |