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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(774): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03486.hp2 |
a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0107a0004c0011t0001g0108 | 2 | 228 | 0.0088 | 781 | c.337 others(800): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MADCAM1_chr19_491486_510343 | 491866 | C | CCCCCCTC others(774): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 NA19064.hp1 |
a0004a0008 | a0004c0003a0008c0008 | a0004c0003t0001a0008c0008t0001 | a0004c0003t0001g0096a0008c0008t0001g0098 | 2 | 364 | 0.0055 | 781 | c.-46 others(792): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4619 | chr19 | TogoVar | ||||||
MADCAM1_chr19_491486_510343 | 491932 | C | CCCCCCTC others(774): Show |
upstream_gene_variant | MODIFIER | NA18943.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0069 | 1 | 364 | 0.0028 | 781 | c.-45 others(792): Show |
MADCAM1 | ENSG00000099866.16 | transcript | ENST00000215637.8 | protein_coding | 4553 | chr19 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(774): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0088 | 1 | 278 | 0.0036 | 781 | c.115 others(798): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(774): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 256 | 0.0039 | 781 | c.241 others(800): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(774): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 256 | 0.0039 | 781 | c.241 others(800): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(774): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0088 | 1 | 256 | 0.0039 | 781 | c.241 others(800): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537628 | T | TGGGAGGT others(774): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0232a0001c0003t0001g0123a0001c0004t0001g0129others(12): Show | 15 | 256 | 0.0586 | 781 | c.241 others(800): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537653 | G | GGCCGCCC others(774): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0128 | 1 | 256 | 0.0039 | 781 | c.241 others(800): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MYRIP_chr3_39804609_40265321 | 40203785 | A | AGTATATA others(774): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 170 | 0.0059 | 781 | c.166 others(800): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | chr3 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(774): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0008 | a0002c0008t0004 | a0002c0008t0004g0081 | 1 | 362 | 0.0028 | 781 | c.-75 others(800): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(774): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0017 | 1 | 362 | 0.0028 | 781 | c.-75 others(800): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 976715 | C | CCAACCCC others(774): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0090 | 1 | 408 | 0.0025 | 781 | c.215 others(796): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0074a0001c0002t0001g0078a0001c0002t0001g0079others(1): Show | 4 | 250 | 0.0160 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0153 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02809.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047a0001c0002t0001g0061a0001c0002t0001g0113 | 3 | 250 | 0.0120 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19060.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059a0001c0002t0001g0095 | 2 | 250 | 0.0080 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0222 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 16980138 | G | GGGGGGGC others(774): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0211 | 1 | 250 | 0.0040 | 781 | c.328 others(800): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLEKHN1_chr1_961482_980865 | 976715 | C | CCAACCCC others(774): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0020 | a0020c0048 | a0020c0048t0001 | a0020c0048t0001g0140 | 1 | 422 | 0.0024 | 781 | c.*21 others(792): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 851 | chr1 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(774): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0197 | 1 | 340 | 0.0029 | 781 | c.227 others(798): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(774): Show |
intron_variant | MODIFIER | NA18972.hp1 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012a0001c0001t0005g0013 | 2 | 220 | 0.0091 | 781 | c.24+ others(798): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392315 | A | ACGTGTCC others(774): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095a0001c0002t0001g0156 | 2 | 180 | 0.0111 | 781 | c.*50 others(792): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3817 | chr12 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GTGATTGT others(774): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 150 | 0.0067 | 781 | c.914 others(798): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GTGATTGT others(774): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 158 | 0.0063 | 781 | c.860 others(798): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SKI_chr1_2223319_2315213 | 2280720 | C | CGATCTTC others(774): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0126 | 1 | 330 | 0.0030 | 781 | c.970 others(800): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1629106 | G | GGGGGTGA others(774): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0312 | 1 | 352 | 0.0028 | 781 | c.299 others(798): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(774): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 HG03516.hp1 NA18991.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0140a0001c0001t0001g0167 | 3 | 360 | 0.0083 | 781 | c.*62 others(792): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376879 | C | CCCCCACC others(774): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082 | 1 | 370 | 0.0027 | 781 | c.-91 others(790): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 854 | chr19 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311382 | G | GTGCGCTC others(774): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 344 | 0.0029 | 781 | c.327 others(798): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311382 | G | GTGCGCTC others(774): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18972.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0164 | 3 | 344 | 0.0087 | 781 | c.327 others(798): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311382 | G | GTGCGCTC others(774): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0108a0001c0001t0001g0111others(20): Show | 24 | 344 | 0.0698 | 781 | c.327 others(798): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23041508 | A | AGAGGTGC others(774): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 351 | 0.0029 | 781 | c.-19 others(792): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1940 | chr15 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917246 | G | GGCTCGGA others(774): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0185 | 1 | 344 | 0.0029 | 781 | c.218 others(798): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ZSWIM7_chr17_15971560_16004704 | 15992813 | C | CAATTGAG others(774): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 344 | 0.0029 | 781 | c.98+ others(794): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1159367 | G | GGAGAAGT others(775): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0017a0001c0006t0047 | a0001c0003t0017g0120a0001c0006t0047g0227 | 2 | 337 | 0.0059 | 782 | c.61+ others(799): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADARB1_chr21_45069580_45231560 | 45156122 | T | TCCACCCA others(775): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01243.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0043 | a0001c0002t0001g0092a0001c0002t0043g0177a0001c0002t0043g0197 | 3 | 350 | 0.0086 | 782 | c.-47 others(801): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415307 | G | GTGGGAGG others(775): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0081 | 1 | 268 | 0.0037 | 782 | c.441 others(799): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 415440 | C | CTGCTGGG others(775): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0230 | 1 | 268 | 0.0037 | 782 | c.441 others(799): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | chr5 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(775): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0069 | 1 | 238 | 0.0042 | 782 | c.787 others(797): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037056 | T | TTATATAT others(775): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0018 | 1 | 193 | 0.0052 | 782 | c.-46 others(793): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4414 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(775): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0205 | 1 | 248 | 0.0040 | 782 | c.*36 others(793): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(775): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 300 | 0.0033 | 782 | c.-70 others(791): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar |