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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 30 | 0.0333 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581253 | T | TACGTATA others(931): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0008 | 1 | 160 | 0.0063 | 938 | c.48- others(955): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(931): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0235 | 1 | 245 | 0.0041 | 938 | c.680 others(955): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209326 | C | CCACACAC others(931): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0222a0001c0002t0226 | a0001c0002t0222g0258 a0001c0002t0226g0239 |
2 | 363 | 0.0055 | 938 | c.122 others(955): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 209666 | C | CACATCAT others(931): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0003 | a0001c0003t0038a0001c0003t0039a0001c0003t0040others(12): Show | a0001c0003t0038g0039 a0001c0003t0039g0040 a0001c0003t0040g0041 others(12): Show |
19 | 374 | 0.0508 | 938 | c.122 others(955): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 209666 | C | CACATCAT others(931): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0200 | a0001c0003t0200g0231 | 1 | 356 | 0.0028 | 938 | c.122 others(955): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0269 | 1 | 70 | 0.0143 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0271 a0001c0002t0002g0287 a0001c0002t0004g0151 |
3 | 72 | 0.0417 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01167.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006 | a0001c0002t0002g0040 a0001c0002t0002g0084 a0001c0002t0002g0102 others(12): Show |
16 | 85 | 0.1882 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0042 | 2 | 71 | 0.0282 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331583 | C | CCCAGGCC others(931): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0022 | a0001c0022t0010 | a0001c0022t0010g0071 | 1 | 106 | 0.0094 | 938 | c.169 others(957): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(931): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0014 | a0009c0014t0006 | a0009c0014t0006g0007 | 1 | 4 | 0.2500 | 938 | c.342 others(957): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(931): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG03225.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0026a0007c0010 | a0001c0001t0003a0001c0026t0001a0007c0010t0003 | a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0026t0001g0141 others(1): Show |
4 | 7 | 0.5714 | 938 | c.342 others(957): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(931): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0036 a0001c0001t0001g0037 others(19): Show |
26 | 339 | 0.0767 | 938 | c.891 others(955): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(931): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 314 | 0.0032 | 938 | c.891 others(955): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(931): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0159 | 1 | 6 | 0.1667 | 938 | c.380 others(955): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978121 | A | ATTATTAT others(931): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 84 | 0.0119 | 938 | c.-2+ others(955): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(931): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 302 | 0.0033 | 938 | c.513 others(955): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634652 | C | CTCCCTTC others(931): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 236 | 0.0042 | 938 | c.105 others(955): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(931): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 96 | 0.0104 | 938 | c.119 others(957): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218343 | C | CCCCAACA others(931): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 103 | 0.0097 | 938 | c.*28 others(949): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1174 | chr8 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATATGC others(931): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 300 | 0.0033 | 938 | c.-27 others(949): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858964 | C | CAGTGGTG others(931): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0064 | 1 | 268 | 0.0037 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(931): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0065 | 1 | 214 | 0.0047 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(931): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0016 | 1 | 214 | 0.0047 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(931): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 214 | 0.0047 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(931): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0110 | 1 | 185 | 0.0054 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859118 | G | GGACGGGT others(931): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0067 | 1 | 289 | 0.0035 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(931): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0185 | 1 | 6 | 0.1667 | 938 | c.368 others(955): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(931): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19066.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0003a0002c0003t0003 | a0001c0004t0003g0216 a0002c0003t0003g0077 |
2 | 7 | 0.2857 | 938 | c.368 others(955): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(931): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02280.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0149 others(2): Show |
6 | 11 | 0.5455 | 938 | c.368 others(955): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(931): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 10 | 0.1000 | 938 | c.180 others(957): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(931): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0031 | 1 | 8 | 0.1250 | 938 | c.115 others(955): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(931): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0101 | 1 | 213 | 0.0047 | 938 | c.250 others(953): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528378 | A | ATGGGCAG others(931): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG03453.hp1 |
a0001 | a0001c0028a0001c0059 | a0001c0028t0001a0001c0028t0002a0001c0059t0004 | a0001c0028t0001g0205 a0001c0028t0002g0126 a0001c0059t0004g0124 |
3 | 272 | 0.0110 | 938 | c.141 others(955): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(931): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 4 | 0.2500 | 938 | c.279 others(953): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(931): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0057 | 1 | 221 | 0.0045 | 938 | c.176 others(957): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(931): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0056 | 1 | 221 | 0.0045 | 938 | c.176 others(957): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(931): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0109 | 1 | 221 | 0.0045 | 938 | c.176 others(957): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGAGAG others(931): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 24 | 0.0417 | 938 | c.371 others(955): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(931): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 67 | 0.0149 | 938 | c.306 others(957): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(931): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 129 | 0.0078 | 938 | c.-75 others(957): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 257159 | T | TGTGACTA others(931): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0076 | 1 | 81 | 0.0123 | 938 | c.439 others(955): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355823 | A | AACAGTCG others(931): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 113 | 0.0088 | 938 | c.-33 others(949): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3017 | chr17 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(931): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0061 | 1 | 149 | 0.0067 | 938 | c.*73 others(949): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82848817 | T | TCTGCTGC others(931): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG03225.hp1 |
a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0132 a0002c0007t0005g0155 a0002c0007t0005g0167 |
3 | 39 | 0.0769 | 938 | c.131 others(959): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGGA others(931): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 | 1 | 67 | 0.0149 | 938 | c.79+ others(955): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930666 | C | CAGGGGTT others(931): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 231 | 0.0043 | 938 | c.*49 others(949): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4703 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACCA others(931): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 35 | 0.0286 | 938 | c.*35 others(957): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871163 | C | CCACACAC others(931): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00673.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0057 others(11): Show |
14 | 328 | 0.0427 | 938 | c.*35 others(957): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |