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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATXN7L1_chr7_105599772_105881599 | 105724807 | T | TCTCTTAT others(306): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01167.hp2 others(25): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0088 others(25): Show |
28 | 252 | 0.1111 | 313 | c.356 others(332): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
ATXN7L1_chr7_105599772_105881599 | 105724807 | T | TCTCTTAT others(306): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0210 | 1 | 252 | 0.0040 | 313 | c.356 others(332): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82972269 | C | CCACACCA others(306): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0185 | 1 | 266 | 0.0038 | 313 | c.460 others(330): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73479096 | A | AGGTACAT others(306): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0197 | 1 | 200 | 0.0050 | 313 | c.892 others(328): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 6/19 | chr7 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60735345 | T | TAAAAAAC others(306): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(5): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0009 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(5): Show |
8 | 74 | 0.1081 | 313 | c.322 others(332): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24837036 | G | GAAAAAAA others(306): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0220 a0001c0001t0005g0224 |
2 | 322 | 0.0062 | 313 | c.818 others(328): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BTD_chr3_15596745_15658714 | 15597657 | T | TGGATCAT others(306): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002 | 1 | 416 | 0.0024 | 313 | c.-42 others(324): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 4087 | chr3 | TogoVar | |||||||
C19orf67_chr19_14076624_14090783 | 14090084 | C | CCGGCGGC others(306): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 394 | 0.0025 | 313 | c.-44 others(324): Show |
C19orf67 | ENSG00000188032.10 | transcript | ENST00000548523.6 | protein_coding | 4302 | chr19 | TogoVar | |||||||
C1orf87_chr1_59985394_60078770 | 60004924 | G | GGCAGCTT others(306): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 382 | 0.0026 | 313 | c.119 others(332): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 403995 | T | TGTGGGGG others(306): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0045 | 1 | 322 | 0.0031 | 313 | c.*31 others(324): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1449 | chr19 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39601935 | T | TTCCCTCC others(306): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0013 | a0002c0013t0029 | a0002c0013t0029g0164 | 1 | 236 | 0.0042 | 313 | c.482 others(330): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54970467 | G | GTTCCTCA others(306): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0111 | 1 | 118 | 0.0085 | 313 | c.255 others(330): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(306): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 328 | 0.0031 | 313 | c.100 others(332): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
CALY_chr10_133319072_133341896 | 133333743 | T | TGGAAGGC others(306): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0091 | 1 | 250 | 0.0040 | 313 | c.-21 others(330): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CALY_chr10_133319072_133341896 | 133334339 | G | GGGGGAAG others(306): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0172 | 1 | 250 | 0.0040 | 313 | c.-21 others(330): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CALY_chr10_133319072_133341896 | 133334339 | G | GGGGGAAG others(306): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02738.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 |
3 | 250 | 0.0120 | 313 | c.-21 others(330): Show |
CALY | ENSG00000130643.9 | transcript | ENST00000252939.9 | protein_coding | 1/5 | chr10 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44588992 | T | TACTGGGA others(306): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 198 | 0.0051 | 313 | c.377 others(334): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91658709 | T | TAAAAAAA others(306): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19001.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0231 a0001c0002t0002g0129 |
2 | 271 | 0.0074 | 313 | c.143 others(332): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91658709 | T | TAAAAAAA others(306): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0101 a0001c0001t0005g0005 a0001c0001t0005g0006 |
3 | 271 | 0.0111 | 313 | c.143 others(332): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CATSPERB_chr14_91575698_91737086 | 91658709 | T | TAAAAAAA others(306): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0193 | 1 | 271 | 0.0037 | 313 | c.143 others(332): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | |||||||
CCDC126_chr7_23592382_23649708 | 23626050 | T | TAAAATTT others(306): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01070.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(28): Show |
32 | 380 | 0.0842 | 313 | c.238 others(332): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55297381 | A | AATATATA others(306): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0012 | a0012c0011 | a0012c0011t0006 | a0012c0011t0006g0010 | 1 | 316 | 0.0032 | 313 | c.482 others(330): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 29/32 | chr2 | TogoVar | |||||||
CCDC91_chr12_28185456_28555166 | 28264365 | T | TAATAATT others(306): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0223 | 1 | 242 | 0.0041 | 313 | c.109 others(330): Show |
CCDC91 | ENSG00000123106.11 | transcript | ENST00000536442.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(306): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 424 | 0.0024 | 313 | c.774 others(328): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CDC42BPA_chr1_226984865_227323492 | 227275239 | T | TAGAAAGC others(306): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0303 | 1 | 352 | 0.0028 | 313 | c.179 others(332): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 1/36 | chr1 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 82878503 | G | GGAAAGAA others(306): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00597.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(15): Show | a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0007g0063 others(21): Show |
24 | 110 | 0.2182 | 313 | c.157 others(332): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61337300 | G | GATGATAA others(306): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01109.hp2 |
a0001a0002 | a0001c0003a0002c0002a0002c0005 | a0001c0003t0032a0002c0002t0023a0002c0005t0007 | a0001c0003t0032g0040 a0002c0002t0023g0102 a0002c0005t0007g0097 |
3 | 106 | 0.0283 | 313 | c.169 others(332): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61337300 | G | GATGATAA others(306): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01099.hp1 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(28): Show | a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0046 others(38): Show |
41 | 106 | 0.3868 | 313 | c.169 others(332): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61337300 | G | GATGATAA others(306): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0008 | 1 | 106 | 0.0094 | 313 | c.169 others(332): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDKAL1_chr6_20529457_21237404 | 20887675 | T | TAGGATTA others(306): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0001a0001c0005t0007a0001c0008t0011others(1): Show | a0001c0001t0001g0003 a0001c0005t0007g0084 a0001c0008t0011g0181 others(3): Show |
6 | 196 | 0.0306 | 313 | c.742 others(332): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174290428 | T | TAAATTTG others(306): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0181 | 1 | 388 | 0.0026 | 313 | c.-14 others(332): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174290428 | T | TAAATTTG others(306): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(27): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0015a0002c0002t0020others(1): Show | a0002c0002t0003g0004 a0002c0002t0003g0034 a0002c0002t0003g0035 others(23): Show |
30 | 388 | 0.0773 | 313 | c.-14 others(332): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32954827 | G | GCTAATTT others(306): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0112 | 1 | 386 | 0.0026 | 313 | c.306 others(330): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 3/18 | chr19 | TogoVar | |||||||
CFAP90_chr5_7825378_7856133 | 7845926 | T | TGACACTC others(306): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(98): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0038 others(31): Show |
101 | 420 | 0.2405 | 313 | c.147 others(330): Show |
CFAP90 | ENSG00000215217.7 | transcript | ENST00000399810.7 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239616845 | T | TAAAAATA others(306): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 | 1 | 116 | 0.0086 | 313 | c.-31 others(334): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80963378 | T | TGAAAGGA others(306): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01069.hp1 others(67): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(38): Show | a0001c0001t0008g0007 a0001c0001t0008g0035 a0001c0001t0009g0037 others(55): Show |
70 | 408 | 0.1716 | 313 | c.*12 others(326): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 3069 | chr16 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43691425 | G | GAAAGAAA others(306): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 384 | 0.0026 | 313 | c.-39 others(332): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 188989139 | T | TAATATTC others(306): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 HG03225.hp1 others(3): Show |
a0001a0011 | a0001c0001a0011c0017 | a0001c0001t0001a0011c0017t0001 | a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0101 others(3): Show |
6 | 376 | 0.0160 | 313 | c.637 others(328): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 7/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188989142 | T | TATTCCTA others(306): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0003 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(21): Show |
27 | 376 | 0.0718 | 313 | c.637 others(328): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 7/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(306): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0325 | 1 | 412 | 0.0024 | 313 | c.630 others(328): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158170 | C | CCTCCCTC others(306): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 350 | 0.0029 | 313 | c.510 others(332): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158291 | C | CTCCGTCT others(306): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 350 | 0.0029 | 313 | c.510 others(332): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116163180 | T | TAGAATGT others(306): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0040 | 1 | 350 | 0.0029 | 313 | c.510 others(332): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COPB1_chr11_14452512_14504811 | 14478464 | T | TTTTTTTT others(306): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18982.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0288 a0001c0001t0001g0359 |
3 | 386 | 0.0078 | 313 | c.135 others(332): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 11/21 | chr11 | TogoVar | |||||||
COX10_chr17_14064504_14213677 | 14185282 | T | TGGTTTTT others(306): Show |
intron_variant | MODIFIER | HG01884.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0312 a0001c0001t0011g0314 |
2 | 322 | 0.0062 | 313 | c.696 others(330): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46073597 | T | TCAATGTA others(306): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 330 | 0.0030 | 313 | c.591 others(328): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588165 | A | ACCCACAG others(306): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0275 | 1 | 348 | 0.0029 | 313 | c.928 others(328): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89597940 | C | CCCGCCCA others(306): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 348 | 0.0029 | 313 | c.*13 others(324): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 695 | chr16 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49701930 | T | TTATTTAT others(306): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0002a0004c0008t0002 | a0001c0002t0002g0207 a0004c0008t0002g0208 |
2 | 350 | 0.0057 | 313 | c.693 others(328): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | chr19 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCACCC others(306): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 324 | 0.0031 | 313 | c.101 others(330): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |