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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGPAT2_chr9_136668143_136692457 | 136675347 | C | CAGCAGGG others(403): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0201 | 1 | 374 | 0.0027 | 410 | c.589 others(425): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 4/5 | chr9 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109540152 | C | CTGCAGAG others(403): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG02818.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0284a0005c0005t0001g0285a0005c0005t0001g0286 | 3 | 378 | 0.0079 | 410 | c.335 others(429): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 27/40 | chr6 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21527015 | G | GTTCTTTT others(403): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 370 | 0.0027 | 410 | c.-10 others(431): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112804042 | T | TCCCCTCC others(403): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0183 | 1 | 254 | 0.0039 | 410 | c.163 others(425): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79326248 | G | GTACCCTC others(403): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0273 | 1 | 298 | 0.0034 | 410 | c.177 others(429): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79326359 | G | GGTGTCAT others(403): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0147 | 1 | 298 | 0.0034 | 410 | c.177 others(429): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79326371 | G | GTACCCTC others(403): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 298 | 0.0034 | 410 | c.177 others(429): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79326371 | G | GTACCCTT others(403): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 298 | 0.0034 | 410 | c.177 others(429): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(403): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024 | 1 | 391 | 0.0026 | 410 | c.*36 others(421): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(403): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 410 | c.*36 others(421): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404678 | C | CGGGGTCC others(403): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0006 | a0001c0006t0124 | a0001c0006t0124g0066 | 1 | 322 | 0.0031 | 410 | c.*24 others(421): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 766 | chr19 | TogoVar | ||||||
CACNA2D2_chr3_50357613_50508634 | 50480935 | G | GAAGGGGG others(403): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 234 | 0.0043 | 410 | c.207 others(427): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 1/37 | chr3 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255222 | A | ATATATAT others(403): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0019 | 1 | 330 | 0.0030 | 410 | c.907 others(425): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(403): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG02004.hp2 others(3): Show |
a0001a0015 | a0001c0003a0001c0005a0001c0068others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0068t0010others(1): Show | a0001c0003t0001g0044a0001c0005t0001g0181a0001c0005t0001g0198others(3): Show | 6 | 322 | 0.0186 | 410 | c.326 others(427): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(403): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(13): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0067others(1): Show | a0001c0003t0001a0001c0005t0001a0001c0067t0001others(1): Show | a0001c0003t0001g0040a0001c0003t0001g0069a0001c0003t0001g0143others(13): Show | 16 | 322 | 0.0497 | 410 | c.326 others(427): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(403): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0297 | 1 | 322 | 0.0031 | 410 | c.326 others(427): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CARD11_chr7_2901142_3048867 | 2909378 | T | TGCCCCTC others(403): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02257.hp2 HG02293.hp2 others(1): Show |
a0001 | a0001c0005a0001c0024 | a0001c0005t0001a0001c0024t0001 | a0001c0005t0001g0144a0001c0005t0001g0232a0001c0005t0001g0296others(1): Show | 4 | 322 | 0.0124 | 410 | c.326 others(427): Show |
CARD11 | ENSG00000198286.11 | transcript | ENST00000396946.9 | protein_coding | 24/24 | chr7 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(403): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0055 | 1 | 288 | 0.0035 | 410 | c.303 others(429): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882522 | G | GGGGAGAA others(403): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG02602.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0002a0001c0003t0003a0002c0004t0001others(1): Show | a0001c0001t0002g0156a0001c0003t0003g0012a0001c0003t0003g0146others(4): Show | 7 | 288 | 0.0243 | 410 | c.303 others(429): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55297381 | A | AAATATAT others(403): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0016 | 1 | 316 | 0.0032 | 410 | c.482 others(427): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(403): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0242 | 1 | 424 | 0.0024 | 410 | c.774 others(425): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDH6_chr5_31188686_31334146 | 31191074 | G | GAAAGGCT others(403): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01256.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(15): Show | a0001c0001t0002g0224a0001c0001t0011g0234a0001c0001t0011g0235others(16): Show | 19 | 338 | 0.0562 | 410 | c.-29 others(421): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 2611 | chr5 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960348 | T | TATGTGTG others(403): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0019 | 1 | 168 | 0.0060 | 410 | c.253 others(429): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CDH8_chr16_61642250_62041438 | 61960348 | T | TATGTGTG others(403): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0017 | 1 | 168 | 0.0060 | 410 | c.253 others(429): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(403): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 354 | 0.0028 | 410 | c.*69 others(421): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(403): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02717.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0021a0001c0002t0001g0059 | 6 | 354 | 0.0170 | 410 | c.*69 others(421): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58586394 | C | CAGGGGGA others(403): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 308 | 0.0033 | 410 | c.637 others(425): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(403): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0039 | a0002c0003t0039g0127 | 1 | 182 | 0.0055 | 410 | c.267 others(427): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(403): Show |
intron_variant | MODIFIER | HG01069.hp2 NA20129.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0040a0001c0008t0014 | a0001c0002t0040g0132a0001c0008t0014g0136 | 2 | 182 | 0.0110 | 410 | c.267 others(427): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL5A3_chr19_9954561_10015504 | 9970058 | T | TGTGGGTG others(403): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0022 | a0022c0030 | a0022c0030t0002 | a0022c0030t0002g0195 | 1 | 412 | 0.0024 | 410 | c.393 others(427): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588117 | G | GCCCCCGT others(403): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 348 | 0.0029 | 410 | c.928 others(425): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAJC13_chr3_132412502_132544032 | 132470610 | G | GGGGGGGG others(403): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0248 | 1 | 318 | 0.0031 | 410 | c.220 others(429): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DNAJC25_chr9_111626334_111659345 | 111641675 | G | GGGGGGGG others(403): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0059 | 1 | 412 | 0.0024 | 410 | c.337 others(427): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DNAJC25_chr9_111626334_111659345 | 111642015 | G | GCCCCGTC others(403): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 412 | 0.0024 | 410 | c.337 others(427): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(403): Show |
intron_variant | MODIFIER | HG01081.hp1 NA19079.hp1 |
a0002a0006 | a0002c0005a0006c0026 | a0002c0005t0001a0006c0026t0001 | a0002c0005t0001g0109a0006c0026t0001g0184 | 2 | 256 | 0.0078 | 410 | c.323 others(429): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DPYSL2_chr8_26509031_26663175 | 26556265 | A | ATATATAC others(403): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 316 | 0.0032 | 410 | c.355 others(429): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136675317 | C | CAGGGGGC others(403): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 432 | 0.0023 | 410 | c.*30 others(421): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2640 | chr9 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(403): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 432 | 0.0023 | 410 | c.*30 others(421): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(403): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 432 | 0.0023 | 410 | c.*30 others(421): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136675347 | C | CAGCAGGG others(403): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 432 | 0.0023 | 410 | c.*30 others(421): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2670 | chr9 | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136675429 | C | CAGCAGGG others(403): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0090 | 1 | 432 | 0.0023 | 410 | c.*31 others(421): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 2752 | chr9 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32477700 | A | ACCTCCCC others(403): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0223 | 1 | 346 | 0.0029 | 410 | c.634 others(427): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(403): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0158 | 1 | 416 | 0.0024 | 410 | c.522 others(425): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FBRSL1_chr12_132485151_132590188 | 132552791 | T | TGGAGGCC others(403): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0050 | a0002c0050t0001 | a0002c0050t0001g0090 | 1 | 348 | 0.0029 | 410 | c.645 others(427): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(403): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 290 | 0.0035 | 410 | c.972 others(425): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(403): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268a0001c0001t0001g0272a0001c0001t0001g0275 | 3 | 290 | 0.0103 | 410 | c.972 others(425): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GTPBP6_chrX_299759_323796 | 315685 | T | TACACACG others(403): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19062.hp1 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0087a0003c0004t0002g0099 | 2 | 155 | 0.0129 | 410 | c.488 others(425): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 315685 | T | TACACACG others(403): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0001 | 2 | 155 | 0.0129 | 410 | c.488 others(425): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92524325 | T | TATTATAT others(403): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0311 | 1 | 314 | 0.0032 | 410 | c.661 others(427): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92524325 | T | TATTATAT others(403): Show |
intron_variant | MODIFIER | NA18961.hp2 NA18966.hp2 NA18973.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0268a0001c0001t0002g0269others(5): Show | 10 | 314 | 0.0319 | 410 | c.661 others(427): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar |