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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZSCAN32_chr16_3377085_3406004 | 3393207 | T | TATATATA others(418): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 400 | 0.0025 | 425 | c.532 others(440): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064582 | C | CTGTTATG others(419): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0309 | 1 | 337 | 0.0030 | 426 | c.118 others(445): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288457 | C | CCCCGTGT others(419): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 295 | 0.0034 | 426 | c.*51 others(437): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3933 | chr1 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70688906 | A | AGGGAGAG others(419): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0117 | 1 | 354 | 0.0028 | 426 | c.523 others(445): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(419): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 276 | 0.0036 | 426 | c.535 others(443): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277913 | C | CGAGACCA others(419): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0002 | a0003c0002t0022 | a0003c0002t0022g0136 | 1 | 276 | 0.0036 | 426 | c.535 others(443): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(419): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 352 | 0.0028 | 426 | c.*51 others(437): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1327452 | C | CCAGCGCC others(419): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0070 | 1 | 106 | 0.0094 | 426 | c.107 others(447): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1327485 | T | TGCCCAGC others(419): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0015 | a0002c0015t0008 | a0002c0015t0008g0060 | 1 | 106 | 0.0094 | 426 | c.107 others(447): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADGRG2_chrX_18984307_19127468 | 19074544 | T | TTTCTTCT others(419): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 188 | 0.0053 | 426 | c.-1- others(441): Show |
ADGRG2 | ENSG00000173698.18 | transcript | ENST00000379869.8 | protein_coding | 2/28 | chrX | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581451 | T | TATATACG others(419): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 169 | 0.0059 | 426 | c.48- others(443): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(419): Show |
3_prime_UTR_variant | MODIFIER | NA19001.hp2 NA19006.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0088 | a0001c0001t0027g0035 a0001c0001t0027g0058 a0001c0001t0088g0050 |
3 | 256 | 0.0117 | 426 | c.*39 others(435): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(419): Show |
3_prime_UTR_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0090 | a0001c0001t0090g0010 | 1 | 256 | 0.0039 | 426 | c.*39 others(435): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(419): Show |
3_prime_UTR_variant | MODIFIER | HG02004.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0098a0001c0001t0099 | a0001c0001t0098g0156 a0001c0001t0099g0036 |
2 | 256 | 0.0078 | 426 | c.*39 others(435): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(419): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0070 | 1 | 256 | 0.0039 | 426 | c.*39 others(435): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85088071 | C | CGTATTAA others(419): Show |
3_prime_UTR_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0019 | 1 | 256 | 0.0039 | 426 | c.*39 others(435): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | chrX | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687084 | A | ACCCCGTG others(419): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 a0001c0001t0002g0235 |
2 | 246 | 0.0081 | 426 | c.-14 others(437): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1239 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687177 | G | GGCGAGCA others(419): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 246 | 0.0041 | 426 | c.-15 others(437): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1332 | chr8 | TogoVar | |||||||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(419): Show |
disruptive_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(128): Show |
a0001a0008a0011others(7): Show | a0001c0001a0001c0045a0001c0057others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0045t0001others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0012 others(21): Show |
131 | 326 | 0.4018 | 426 | c.546 others(435): Show |
p.Gly others(441): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ARMCX4_chrX_101480456_101500807 | 101494029 | G | GGGGCTGA others(419): Show |
disruptive_inframe_insertion | MODERATE | HG02818.hp1 | a0001 | a0001c0060 | a0001c0060t0001 | a0001c0060t0001g0002 | 1 | 326 | 0.0031 | 426 | c.546 others(435): Show |
p.Gly others(441): Show |
ARMCX4 | ENSG00000196440.12 | transcript | ENST00000423738.5 | protein_coding | 6/6 | 5973/7729 | 5462/6873 | 1821/2290 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
BDH1_chr3_197504783_197560968 | 197517675 | C | CATCAGTC others(419): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0115a0001c0001t0121a0001c0001t0140 | a0001c0001t0115g0184 a0001c0001t0121g0185 a0001c0001t0140g0186 |
3 | 319 | 0.0094 | 426 | c.410 others(443): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127105467 | C | CCCTCCTC others(419): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 344 | 0.0029 | 426 | c.84+ others(441): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(419): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0154 |
2 | 292 | 0.0069 | 426 | c.*21 others(441): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
C17orf67_chr17_56786913_56838920 | 56792825 | G | GTGATGGT others(419): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 others(7): Show |
10 | 292 | 0.0343 | 426 | c.*21 others(441): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138126363 | G | GAGGCCAT others(419): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02886.hp2 |
a0001a0002 | a0001c0003a0002c0009 | a0001c0003t0005a0002c0009t0012 | a0001c0003t0005g0107 a0002c0009t0012g0220 |
2 | 248 | 0.0081 | 426 | c.*43 others(437): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 1745 | chr9 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(419): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01106.hp2 HG01109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0002g0017 a0001c0001t0004g0008 a0001c0002t0001g0009 others(7): Show |
10 | 242 | 0.0413 | 426 | c.-31 others(437): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(419): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0271 a0002c0004t0002g0272 |
2 | 330 | 0.0061 | 426 | c.907 others(441): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 544701 | A | ACGTCGCC others(419): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0244 | 1 | 410 | 0.0024 | 426 | c.-22 others(443): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201284695 | G | GGGGAGAG others(419): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0260 | 1 | 386 | 0.0026 | 426 | c.803 others(440): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110905917 | A | ATATATAA others(419): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 288 | 0.0035 | 426 | c.154 others(445): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(419): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0026 | 1 | 284 | 0.0035 | 426 | c.411 others(443): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(419): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0196 | 1 | 256 | 0.0039 | 426 | c.-45 others(447): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204022 | T | TATATAAA others(419): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 388 | 0.0026 | 426 | c.487 others(443): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(419): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 388 | 0.0026 | 426 | c.487 others(443): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(419): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 354 | 0.0028 | 426 | c.*69 others(437): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85911162 | T | TATATATA others(419): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 245 | 0.0041 | 426 | c.124 others(441): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(419): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0010 | a0003c0010t0013 | a0003c0010t0013g0172 | 1 | 182 | 0.0055 | 426 | c.267 others(443): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355326 | A | AGAGGGCT others(419): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0339 | 1 | 372 | 0.0027 | 426 | c.100 others(443): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203424 | T | TGTGTGTA others(419): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0280 | 1 | 344 | 0.0029 | 426 | c.88- others(443): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(419): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03453.hp2 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0005 | a0003c0003t0002g0151 a0003c0003t0005g0150 |
2 | 216 | 0.0093 | 426 | c.923 others(445): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(419): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 367 | 0.0027 | 426 | c.-42 others(437): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397726 | C | CGGGGGGG others(419): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 367 | 0.0027 | 426 | c.-42 others(437): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4158 | chr16 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(419): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0294 | 1 | 336 | 0.0030 | 426 | c.348 others(443): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875284 | C | CCACCCCC others(419): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0011 | a0011c0070 | a0011c0070t0001 | a0011c0070t0001g0130 | 1 | 320 | 0.0031 | 426 | c.*39 others(437): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2458 | chr20 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1695316 | A | AAGGGGGC others(419): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | 426 | c.279 others(445): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400154 | C | CCACCACC others(419): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0029 | a0029c0137 | a0029c0137t0001 | a0029c0137t0001g0155 | 1 | 256 | 0.0039 | 426 | c.323 others(443): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(419): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0038 | a0038c0167 | a0038c0167t0018 | a0038c0167t0018g0001 | 1 | 256 | 0.0039 | 426 | c.323 others(445): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282784 | G | GAGGGTGG others(419): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0005 | 1 | 294 | 0.0034 | 426 | c.-33 others(437): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3088 | chr19 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927955 | A | AGGTGGTG others(419): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0002 | a0003c0002t0008 | a0003c0002t0008g0238 | 1 | 288 | 0.0035 | 426 | c.190 others(445): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FAM174C_chr19_1270530_1284228 | 1282690 | A | AGGAGGGT others(419): Show |
downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 426 | c.*39 others(437): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3463 | chr19 | TogoVar |