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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGGAC others(5307): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 20 | 0.0500 | 5314 | c.351 others(5333): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323059 | A | ACATGGAG others(5310): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 313 | 0.0032 | 5317 | c.-19 others(5328): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1910 | chr21 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5313): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 55 | 0.0182 | 5320 | c.891 others(5335): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948410 | T | TTGGTGGT others(5313): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0111 | 1 | 93 | 0.0108 | 5320 | c.47- others(5337): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5315): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0173 | 1 | 212 | 0.0047 | 5322 | c.225 others(5339): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407133 | T | TCCTCCCT others(5315): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 40 | 0.0250 | 5322 | c.296 others(5339): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870175 | C | CCCACACA others(5315): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 325 | 0.0031 | 5322 | c.*35 others(5341): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(5315): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 274 | 0.0036 | 5322 | c.340 others(5339): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863941 | T | TTCACAAC others(5318): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0013 | a0003c0013t0005 | a0003c0013t0005g0232 | 1 | 304 | 0.0033 | 5325 | c.225 others(5342): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACTC others(5318): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0012 | 1 | 3 | 0.3333 | 5325 | c.*14 others(5336): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(5319): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0240 | 1 | 296 | 0.0034 | 5326 | c.268 others(5345): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64295354 | G | GAGGAGGA others(5320): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0020 | a0020c0020 | a0020c0020t0002 | a0020c0020t0002g0022 | 1 | 11 | 0.0909 | 5327 | c.619 others(5348): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCATGC others(5321): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 | 1 | 387 | 0.0026 | 5328 | c.340 others(5345): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5323): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 2 | 0.5000 | 5330 | c.287 others(5349): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23972839 | C | CAATAGAA others(5325): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 94 | 0.0106 | 5332 | c.*39 others(5343): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7835712 | G | GGCCTTAA others(5327): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0247 | 1 | 237 | 0.0042 | 5334 | c.726 others(5351): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5327): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0074 | 1 | 307 | 0.0033 | 5334 | c.327 others(5351): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311103 | T | TCCCAGTG others(5330): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0063 a0001c0003t0010g0064 |
2 | 222 | 0.0090 | 5337 | c.327 others(5354): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311103 | T | TCCCAGTG others(5330): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0067 a0001c0001t0007g0068 a0001c0001t0007g0069 others(2): Show |
6 | 226 | 0.0265 | 5337 | c.327 others(5354): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311103 | T | TCCCAGTG others(5330): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071 | 1 | 221 | 0.0045 | 5337 | c.327 others(5354): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311103 | T | TCCCAGTG others(5330): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 | 1 | 221 | 0.0045 | 5337 | c.327 others(5354): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311103 | T | TCCCAGTG others(5330): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 221 | 0.0045 | 5337 | c.327 others(5354): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333251 | C | CGGATGAG others(5331): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0197 | 1 | 302 | 0.0033 | 5338 | c.891 others(5355): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTGGT others(5331): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0147 | 1 | 2 | 0.5000 | 5338 | c.126 others(5355): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0015 | a0001c0015t0034 | a0001c0015t0034g0056 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0018 | a0001c0018t0042 | a0001c0018t0042g0083 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 a0001c0002t0001g0022 |
2 | 3 | 0.6667 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0037 | a0001c0037t0006 | a0001c0037t0006g0027 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0026 | a0001c0026t0003 | a0001c0026t0003g0071 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0008 | a0001c0008t0038 | a0001c0008t0038g0045 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001a0001c0003a0001c0022 | a0001c0001t0005a0001c0003t0040a0001c0022t0014 | a0001c0001t0005g0043 a0001c0003t0040g0011 a0001c0022t0014g0050 |
3 | 4 | 0.7500 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG03195.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0028a0001c0024t0003 | a0001c0001t0028g0081 a0001c0024t0003g0072 |
2 | 3 | 0.6667 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5333): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 2 | 0.5000 | 5340 | c.477 others(5361): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48569365 | T | TATATATA others(5333): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03540.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009 a0001c0005t0001g0010 a0001c0005t0001g0011 |
3 | 360 | 0.0083 | 5340 | c.72- others(5355): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SULT2B1_chr19_48547172_48604423 | 48569365 | T | TATATATA others(5334): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0013 | 1 | 358 | 0.0028 | 5341 | c.72- others(5356): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5335): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0086 | a0086c0075 | a0086c0075t0001 | a0086c0075t0001g0187 | 1 | 34 | 0.0294 | 5342 | c.299 others(5357): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SULT2B1_chr19_48547172_48604423 | 48569365 | T | TATATATA others(5335): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0014 | 1 | 358 | 0.0028 | 5342 | c.72- others(5357): Show |
SULT2B1 | ENSG00000088002.12 | transcript | ENST00000201586.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(5337): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 207 | 0.0048 | 5344 | c.*41 others(5359): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5339): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0003 | a0001c0003t0059 | a0001c0003t0059g0164 | 1 | 212 | 0.0047 | 5346 | c.225 others(5363): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5341): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 55 | 0.0182 | 5348 | c.891 others(5363): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241973 | A | ACACACCC others(5341): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 87 | 0.0115 | 5348 | c.107 others(5367): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5341): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0070 | 1 | 34 | 0.0294 | 5348 | c.299 others(5363): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5342): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0060 | 1 | 55 | 0.0182 | 5349 | c.891 others(5364): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333699 | A | TGAGGATA others(5343): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 299 | 0.0033 | 5350 | c.891 others(5365): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23972839 | C | CAATAGAA others(5343): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0035 | 1 | 94 | 0.0106 | 5350 | c.*39 others(5361): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 3561 | chr14 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GTGGTGGT others(5343): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0023 | a0023c0032 | a0023c0032t0002 | a0023c0032t0002g0144 | 1 | 2 | 0.5000 | 5350 | c.126 others(5367): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | chr3 | TogoVar |