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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASQ2_chr1_115695021_115773714 | 115761458 | A | AGGAAGGG others(206): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 364 | 0.0028 | 213 | c.234 others(230): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761464 | G | GGGAAGGG others(206): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0349 | 1 | 364 | 0.0028 | 213 | c.234 others(230): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761473 | A | AGGAAGGG others(206): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 364 | 0.0028 | 213 | c.234 others(230): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761476 | A | AAGGGCAA others(206): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0005 | 1 | 364 | 0.0028 | 213 | c.234 others(230): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CASQ2_chr1_115695021_115773714 | 115761476 | A | AGGAAGGG others(206): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0052 | 1 | 364 | 0.0028 | 213 | c.234 others(230): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CCDC30_chr1_42458286_42662190 | 42546395 | A | ATATATAT others(206): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0016 | 1 | 324 | 0.0031 | 213 | c.890 others(228): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 410 | 0.0049 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 410 | 0.0024 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 410 | 0.0024 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 410 | 0.0024 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCDC42_chr17_8724935_8749836 | 8746874 | C | CCCTTCCC others(206): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 410 | 0.0024 | 213 | c.-22 others(224): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 2039 | chr17 | TogoVar | |||||||
CCN4_chr8_133186039_133236690 | 133213991 | T | TATACTAT others(206): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0049 | 1 | 396 | 0.0025 | 213 | c.349 others(228): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCR9_chr3_45881543_45908174 | 45890306 | T | TATATATA others(206): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02523.hp2 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0115 |
3 | 424 | 0.0071 | 213 | c.-29 others(230): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CCR9_chr3_45881543_45908174 | 45890306 | T | TATATATA others(206): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 424 | 0.0024 | 213 | c.-29 others(230): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CD226_chr18_69848274_69952873 | 69894561 | A | AGGGGAGG others(206): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0010 | a0007c0010t0141 | a0007c0010t0141g0251 | 1 | 256 | 0.0039 | 213 | c.727 others(230): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 3/5 | chr18 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181606461 | A | AGGGGAGG others(206): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 298 | 0.0034 | 213 | c.239 others(230): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CFAP107_chr1_12741200_12768699 | 12762156 | C | CCACCTAC others(206): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0001c0001t0044a0002c0002t0003others(3): Show | a0001c0001t0026g0108 a0001c0001t0044g0109 a0002c0002t0003g0003 others(23): Show |
69 | 336 | 0.2054 | 213 | c.*12 others(224): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 4/4 | 1240 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP107_chr1_12741200_12768699 | 12762156 | C | CCACCTAC others(206): Show |
3_prime_UTR_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0001 | 1 | 336 | 0.0030 | 213 | c.*13 others(224): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 4/4 | 1559 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20356531 | G | GTGAGGGG others(206): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00735.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0002a0001c0003t0002a0001c0007t0002others(11): Show | a0001c0001t0002g0063 a0001c0001t0002g0144 a0001c0001t0002g0190 others(18): Show |
21 | 236 | 0.0890 | 213 | c.351 others(232): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28730264 | G | GAGGGGAG others(206): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 HG03540.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0376 a0001c0001t0001g0377 a0007c0010t0001g0375 |
3 | 384 | 0.0078 | 213 | c.319 others(230): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CLDN19_chr1_42728093_42745236 | 42737848 | A | AATTTTTG others(206): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 428 | 0.0023 | 213 | c.473 others(228): Show |
CLDN19 | ENSG00000164007.11 | transcript | ENST00000296387.6 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69921450 | A | ATATCATA others(206): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 182 | 0.0055 | 213 | c.267 others(230): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9970036 | G | GGTCTGTG others(206): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0034 | a0002c0034t0002 | a0002c0034t0002g0163 | 1 | 412 | 0.0024 | 213 | c.393 others(230): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGTCT others(206): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0205 |
2 | 350 | 0.0057 | 213 | c.510 others(232): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588000 | C | CCCCCCGT others(206): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 348 | 0.0029 | 213 | c.928 others(228): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924444 | G | GCCCCCCA others(206): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01943.hp1 |
a0001a0032 | a0001c0002a0032c0067 | a0001c0002t0001a0032c0067t0001 | a0001c0002t0001g0181 a0032c0067t0001g0179 |
2 | 350 | 0.0057 | 213 | c.489 others(230): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647293 | C | CCTCCTCC others(206): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 276 | 0.0036 | 213 | c.*51 others(224): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1949 | chr15 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107026147 | T | TATATAAC others(206): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 320 | 0.0031 | 213 | c.159 others(230): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CSNK1E_chr22_38285691_38322433 | 38317347 | T | TCGCCGCC others(206): Show |
5_prime_UTR_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0272 | 1 | 412 | 0.0024 | 213 | c.-20 others(222): Show |
CSNK1E | ENSG00000213923.13 | transcript | ENST00000396832.6 | protein_coding | 1/11 | 3191 | chr22 | TogoVar | ||||||
CYBRD1_chr2_171517474_171563129 | 171558508 | T | TATATATT others(206): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0307 | 1 | 394 | 0.0025 | 213 | c.*36 others(224): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 380 | chr2 | TogoVar | |||||||
DCAF10_chr9_37795797_37872664 | 37808748 | A | ATATATAA others(206): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18948.hp2 NA18957.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0027others(1): Show | a0001c0001t0009g0013 a0001c0001t0009g0033 a0001c0001t0009g0036 others(5): Show |
8 | 356 | 0.0225 | 213 | c.539 others(230): Show |
DCAF10 | ENSG00000122741.16 | transcript | ENST00000377724.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251015 | T | TCCCCCTC others(206): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0001 | 1 | 116 | 0.0086 | 213 | c.207 others(232): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251015 | T | TCCCTCAC others(206): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0073 | 1 | 116 | 0.0086 | 213 | c.207 others(232): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DENND1B_chr1_197499748_197780480 | 197713905 | A | AAATATTA others(206): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 280 | 0.0036 | 213 | c.126 others(230): Show |
DENND1B | ENSG00000213047.13 | transcript | ENST00000620048.6 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(206): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 284 | 0.0035 | 213 | c.101 others(232): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(206): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 284 | 0.0035 | 213 | c.101 others(232): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593816 | T | TCTCCCCT others(206): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 HG03209.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0018 | a0001c0001t0001a0006c0018t0001 | a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 others(1): Show |
4 | 284 | 0.0141 | 213 | c.101 others(232): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 977716 | A | ATGTGGTG others(206): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02074.hp1 |
a0002 | a0002c0001 | a0002c0001t0011a0002c0001t0020 | a0002c0001t0011g0001 a0002c0001t0020g0024 |
2 | 40 | 0.0500 | 213 | c.73+ others(230): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 977716 | A | ATGTGGTG others(206): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0012 | a0001c0012t0012 | a0001c0012t0012g0006 | 1 | 40 | 0.0250 | 213 | c.73+ others(230): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478154 | C | CCATTACC others(206): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03195.hp1 |
a0096a0108 | a0096c0072a0108c0148 | a0096c0072t0001a0108c0148t0001 | a0096c0072t0001g0011 a0108c0148t0001g0131 |
2 | 252 | 0.0079 | 213 | c.799 others(230): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400151 | T | TCACCACC others(206): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0015 | a0015c0058 | a0015c0058t0001 | a0015c0058t0001g0021 | 1 | 256 | 0.0039 | 213 | c.323 others(230): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89618921 | T | TCCCCTCC others(206): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 250 | 0.0040 | 213 | c.-10 others(232): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCACTGC others(206): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01074.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0064 others(8): Show |
11 | 250 | 0.0440 | 213 | c.-10 others(232): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCCCTGC others(206): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01952.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 others(2): Show |
5 | 250 | 0.0200 | 213 | c.-10 others(232): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154063031 | C | CTGACAAA others(206): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0024 | a0001c0024t0028 | a0001c0024t0028g0003 | 1 | 38 | 0.0263 | 213 | c.243 others(230): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | |||||||
DPRX_chr19_53626999_53642014 | 53629722 | A | GGTGGCTC others(206): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 478 | 0.0042 | 213 | c.-23 others(224): Show |
DPRX | ENSG00000204595.3 | transcript | ENST00000376650.2 | protein_coding | 2277 | chr19 | TogoVar | |||||||
ELL_chr19_18437663_18527070 | 18442176 | C | CCACACCC others(206): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0150 a0001c0001t0004g0151 a0001c0001t0004g0153 |
3 | 244 | 0.0123 | 213 | c.*25 others(224): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 486 | chr19 | TogoVar | |||||||
FANCD2_chr3_10021437_10106932 | 10070476 | G | GGCCAGCC others(206): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 | 1 | 242 | 0.0041 | 213 | c.249 others(232): Show |
FANCD2 | ENSG00000144554.13 | transcript | ENST00000675286.1 | protein_coding | 26/43 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |