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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(866): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03516.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0005t0008 | a0001c0001t0012g0001 a0001c0005t0008g0026 |
3 | 141 | 0.0213 | 873 | c.141 others(890): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(866): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0008 | 1 | 139 | 0.0072 | 873 | c.141 others(890): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(866): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 121 | 0.0083 | 873 | c.201 others(890): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75139041 | T | TTCTTTTC others(866): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0220 | 1 | 360 | 0.0028 | 873 | c.487 others(890): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 8/9 | chr9 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(866): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 87 | 0.0115 | 873 | c.773 others(888): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124353 | C | CTGTAGTT others(866): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0212 | 1 | 62 | 0.0161 | 873 | c.335 others(892): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(866): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19091.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0043 a0001c0002t0002g0086 |
2 | 200 | 0.0100 | 873 | c.-26 others(892): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(866): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02602.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0076 others(3): Show |
6 | 204 | 0.0294 | 873 | c.-26 others(892): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(866): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 283 | 0.0035 | 873 | c.115 others(890): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77484808 | G | GTGATTGT others(866): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 a0001c0001t0003g0091 |
2 | 114 | 0.0175 | 873 | c.913 others(890): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484808 | G | GTGATTGT others(866): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024 | 1 | 117 | 0.0085 | 873 | c.859 others(890): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(866): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0070 | 1 | 322 | 0.0031 | 873 | c.101 others(892): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432048 | C | CAGGGTGG others(866): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 241 | 0.0041 | 873 | c.101 others(890): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432120 | T | TAGGGTGG others(866): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0001 | 1 | 313 | 0.0032 | 873 | c.101 others(890): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST6GALNAC3_chr1_76069746_76639603 | 76438015 | T | TGAAAATT others(866): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0062 | 1 | 101 | 0.0099 | 873 | c.623 others(892): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930542 | G | GGGGGTTA others(866): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 285 | 0.0035 | 873 | c.*50 others(884): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4827 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930741 | C | CGGGGTTA others(866): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 339 | 0.0029 | 873 | c.*48 others(884): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4628 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870319 | C | CACACACC others(866): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 316 | 0.0032 | 873 | c.*35 others(892): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ZNF16_chr8_144925358_144955880 | 144946552 | G | GGGGCCTG others(866): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0106 | 1 | 318 | 0.0031 | 873 | c.-9- others(886): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(866): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0253 | 1 | 183 | 0.0055 | 873 | c.-42 others(884): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(866): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0255 | 1 | 183 | 0.0055 | 873 | c.-42 others(884): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(867): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0109 | 1 | 112 | 0.0089 | 874 | c.48- others(891): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25159113 | T | TACATGTA others(867): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 HG04184.hp2 NA20752.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0000 a0001c0001t0027g0000 |
4 | 122 | 0.0328 | 874 | c.*10 others(887): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2565 | chr13 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(867): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 72 | 0.0139 | 874 | c.273 others(891): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(867): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 27 | 0.0370 | 874 | c.94+ others(889): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
C1orf174_chr1_3884133_3905272 | 3892349 | C | CGGGTGCT others(867): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0051 | 1 | 421 | 0.0024 | 874 | c.129 others(889): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127793 | G | GATCTCGG others(867): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 234 | 0.0043 | 874 | c.-1- others(887): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(867): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0146 | 1 | 2 | 0.5000 | 874 | c.266 others(891): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(867): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0039 | 1 | 2 | 0.5000 | 874 | c.266 others(891): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(867): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 350 | 0.0029 | 874 | c.666 others(889): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(867): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0012 | a0012c0018 | a0012c0018t0003 | a0012c0018t0003g0122 | 1 | 4 | 0.2500 | 874 | c.342 others(893): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(867): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18522.hp1 |
a0005 | a0005c0008 | a0005c0008t0001a0005c0008t0003 | a0005c0008t0001g0135 a0005c0008t0003g0184 |
2 | 5 | 0.4000 | 874 | c.342 others(893): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357810 | T | TACTGAGG others(867): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0073 | 1 | 24 | 0.0417 | 874 | c.351 others(893): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(867): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01099.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001a0002c0003t0003 | a0001c0002t0002g0166 a0001c0002t0002g0184 a0001c0002t0002g0185 others(10): Show |
13 | 208 | 0.0625 | 874 | c.181 others(893): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(867): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0052 | a0001c0052t0020 | a0001c0052t0020g0199 | 1 | 3 | 0.3333 | 874 | c.110 others(891): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(867): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 57 | 0.0175 | 874 | c.*31 others(885): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(867): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 20 | 0.0500 | 874 | c.739 others(891): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634556 | T | TCCTTTCC others(867): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18944.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0119 a0002c0002t0001g0030 |
2 | 159 | 0.0126 | 874 | c.105 others(891): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(867): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 366 | 0.0027 | 874 | c.*50 others(885): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(867): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 6 | 0.1667 | 874 | c.-17 others(893): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925844 | A | ATGGATTG others(867): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 371 | 0.0027 | 874 | c.666 others(891): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(867): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 13 | 0.0769 | 874 | c.978 others(891): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(867): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0171 | 1 | 124 | 0.0081 | 874 | c.*65 others(885): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(867): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 11 | 0.0909 | 874 | c.104 others(893): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(867): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0019 | a0019c0055 | a0019c0055t0002 | a0019c0055t0002g0030 | 1 | 8 | 0.1250 | 874 | c.507 others(893): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(867): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01256.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0087 a0001c0001t0001g0115 a0001c0001t0001g0210 others(8): Show |
11 | 26 | 0.4231 | 874 | c.193 others(893): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953966 | C | CTCCTGCA others(867): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 253 | 0.0040 | 874 | c.503 others(889): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871889 | A | AGAGGGGG others(867): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0005 | 1 | 47 | 0.0213 | 874 | c.209 others(889): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGG others(867): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 | 1 | 6 | 0.1667 | 874 | c.209 others(889): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(867): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0039 | 1 | 3 | 0.3333 | 874 | c.-12 others(893): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |