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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMYD3_chr1_245744347_246512279 | 245798398 | A | ACACACCA others(440): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 150 | 0.0067 | 447 | c.107 others(468): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 965349 | G | GTCCTCCT others(440): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 190 | 0.0053 | 447 | c.72+ others(464): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827089 | C | CATATATT others(440): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 302 | 0.0033 | 447 | c.12+ others(462): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827174 | A | AACATATA others(440): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0076 | 1 | 302 | 0.0033 | 447 | c.12+ others(462): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724748 | A | ATGGTGGT others(440): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 HG02922.hp2 others(4): Show |
a0001a0003a0004others(2): Show | a0001c0002a0003c0046a0004c0007others(3): Show | a0001c0002t0001a0003c0046t0001a0004c0007t0001others(3): Show | a0001c0002t0001g0123 a0003c0046t0001g0164 a0004c0007t0001g0026 others(4): Show |
7 | 168 | 0.0417 | 447 | c.261 others(464): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241748 | A | ATATATAT others(440): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 374 | 0.0027 | 447 | c.-25 others(458): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 2537 | chr12 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(440): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 268 | 0.0037 | 447 | c.*73 others(458): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884880 | T | TACACATA others(440): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0056 | 1 | 376 | 0.0027 | 447 | c.158 others(466): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884880 | T | TACACATA others(440): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0051 | 1 | 376 | 0.0027 | 447 | c.158 others(466): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(440): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 276 | 0.0036 | 447 | c.-18 others(466): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672778 | G | GGAGGGGG others(440): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0003 | a0001c0003t0048 | a0001c0003t0048g0095 | 1 | 276 | 0.0036 | 447 | c.-18 others(466): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273098 | A | ACGACCGC others(440): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0366 | 1 | 392 | 0.0026 | 447 | c.228 others(464): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376674 | T | TCCAGCCT others(440): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0113 | 1 | 370 | 0.0027 | 447 | c.-70 others(456): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 649 | chr19 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693729 | A | ACCACCAC others(440): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 447 | c.-30 others(458): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2922 | chr20 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(440): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 224 | 0.0045 | 447 | c.102 others(466): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(440): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 334 | 0.0030 | 447 | c.657 others(462): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(440): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 334 | 0.0060 | 447 | c.657 others(462): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870633 | C | CCATACAC others(440): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 338 | 0.0030 | 447 | c.*35 others(466): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(440): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0249 a0001c0003t0003g0254 |
2 | 344 | 0.0058 | 447 | c.218 others(464): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(440): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0028 | a0001c0004t0028g0037 | 1 | 204 | 0.0049 | 447 | c.213 others(466): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(440): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0107 | 1 | 204 | 0.0049 | 447 | c.213 others(466): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(440): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02965.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0004a0001c0004t0003a0002c0005t0018 | a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0004t0003g0046 others(1): Show |
4 | 64 | 0.0625 | 447 | c.104 others(466): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(440): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 64 | 0.0156 | 447 | c.104 others(466): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
USP37_chr2_218445251_218573351 | 218557668 | G | GCTGTAAT others(440): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02027.hp2 HG02559.hp1 others(14): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0001t0021a0001c0010t0003 | a0001c0001t0003g0093 a0001c0001t0003g0117 a0001c0001t0003g0118 others(14): Show |
17 | 282 | 0.0603 | 447 | c.156 others(462): Show |
USP37 | ENSG00000135913.11 | transcript | ENST00000258399.8 | protein_coding | 4/25 | chr2 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8466909 | A | AGGGAGGG others(440): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp2 |
a0007 | a0007c0006 | a0007c0006t0009 | a0007c0006t0009g0005 | 2 | 271 | 0.0074 | 447 | c.*52 others(456): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 400 | chrX | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88461004 | G | GGACCGAG others(440): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0103 | 1 | 318 | 0.0031 | 447 | c.40+ others(462): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370809 | C | CATCATAT others(440): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 447 | c.-36 others(458): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3559 | chr10 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288607 | C | CCGTGTCT others(441): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 295 | 0.0034 | 448 | c.*49 others(459): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3783 | chr1 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129578084 | A | ACATATGC others(441): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 226 | 0.0044 | 448 | c.137 others(469): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(441): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0067 | a0001c0067t0004 | a0001c0067t0004g0050 | 1 | 276 | 0.0036 | 448 | c.535 others(465): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTSL3_chr15_83649123_84044842 | 83695232 | G | GTGGTATA others(441): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0031 | a0012c0031t0001 | a0012c0031t0001g0158 | 1 | 274 | 0.0037 | 448 | c.70- others(463): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(441): Show |
intron_variant | MODIFIER | HG02717.hp2 NA20300.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004 | a0001c0001t0001g0075 a0003c0006t0004g0076 |
2 | 236 | 0.0085 | 448 | c.409 others(467): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15529638 | A | ATATAGTA others(441): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 236 | 0.0042 | 448 | c.409 others(467): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
ALG13_chrX_111676170_111765649 | 111721071 | A | AAGAAGGA others(441): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03195.hp1 others(2): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0001a0004c0008t0001 | a0001c0002t0001g0001 a0001c0002t0001g0058 a0001c0002t0001g0059 others(1): Show |
5 | 191 | 0.0262 | 448 | c.132 others(464): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5932184 | A | ACTAGTAA others(441): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0006 | 1 | 162 | 0.0062 | 448 | c.23- others(463): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431165 | G | GGTGTGGG others(441): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0026 | 1 | 286 | 0.0035 | 448 | c.539 others(463): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
APCDD1_chr18_10449635_10494949 | 10462540 | C | CCCTTCCT others(441): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0095 | 1 | 422 | 0.0024 | 448 | c.59- others(463): Show |
APCDD1 | ENSG00000154856.13 | transcript | ENST00000355285.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ARGFX_chr3_121562949_121595622 | 121588763 | A | AAAAAAAA others(441): Show |
3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0048 | a0001c0001t0045g0267 a0001c0001t0048g0291 |
2 | 410 | 0.0049 | 448 | c.*22 others(459): Show |
ARGFX | ENSG00000186103.5 | transcript | ENST00000334384.5 | protein_coding | 5/5 | 2219 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1839476 | T | TGTTGTGG others(441): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0024 | a0024c0094 | a0024c0094t0016 | a0024c0094t0016g0103 | 1 | 363 | 0.0028 | 448 | c.-47 others(465): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1839492 | T | TGGTGTGG others(441): Show |
intron_variant | MODIFIER | NA19007.hp2 NA19081.hp2 NA19086.hp2 |
a0001a0002 | a0001c0037a0002c0030 | a0001c0037t0005a0001c0037t0008a0002c0030t0004 | a0001c0037t0005g0308 a0001c0037t0008g0309 a0002c0030t0004g0169 |
3 | 363 | 0.0083 | 448 | c.-47 others(465): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1852195 | C | CGGGCCCT others(441): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0104 | 1 | 363 | 0.0028 | 448 | c.38- others(463): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406031 | G | GTGTCACT others(441): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 210 | 0.0048 | 448 | c.*27 others(459): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 354 | chr2 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758486 | G | GATCACCT others(441): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0196 | 1 | 300 | 0.0033 | 448 | c.655 others(467): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(441): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0149 | 1 | 254 | 0.0039 | 448 | c.39+ others(465): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112873157 | G | GTGGTGTG others(441): Show |
intron_variant | MODIFIER | HG03239.hp1 NA18969.hp1 |
a0001a0002 | a0001c0031a0002c0003 | a0001c0031t0007a0002c0003t0007 | a0001c0031t0007g0160 a0002c0003t0007g0186 |
2 | 254 | 0.0079 | 448 | c.305 others(465): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83035887 | G | GGTGGAGG others(441): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0221 | 1 | 266 | 0.0038 | 448 | c.233 others(463): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133425959 | G | GGGGAGGG others(441): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0220 | 1 | 276 | 0.0036 | 448 | c.490 others(467): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1423659 | C | CTGCCCCA others(441): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0029 | a0001c0001t0003g0237 a0001c0001t0003g0287 a0002c0002t0029g0025 others(1): Show |
4 | 360 | 0.0111 | 448 | c.92- others(465): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126672434 | G | GCAGGACT others(441): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 218 | 0.0046 | 448 | c.-19 others(459): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1742 | chr10 | TogoVar | |||||||
C10orf90_chr10_126419997_126675693 | 126672875 | C | CCCGAGAC others(441): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 218 | 0.0046 | 448 | c.-23 others(459): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2183 | chr10 | TogoVar |