Annotation Summary for Cell Line: RCH-ACV  

Cell line primary name: RCH-ACV
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: acute_lymphoblastic_B_cell_leukaemia
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_G12_474660
SNP arrays: AWASH_p_NCLE_DNAAffy10_GenomeWideSNP_6_H05_542822
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in RCH-ACV

GeneProtein
Change
ChrStartEnd SampleNCBI
Build
Variant
Classification
Variant TypeReference
Allele
Tumor
Allele 1
dbSNP IDAnnotation
Transcript
Other
Transcripts
Method View
Reads
Mutation
Assessor
AAK1 p.541_542QQ>Q 2 69741754 69741756 RCHACV_HAEMATOP... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABI1 10 27037488 27037488 RCHACV_HAEMATOP... 37 3'UTR Del A - rs75446996 uc001isx.2 ABI1_uc001ite.2... Hybrid_Cap...
ACVR1B p.G329R 12 52377833 52377833 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ADAM17 2 9630245 9630245 RCHACV_HAEMATOP... 37 3'UTR Del T - uc002qzu.2 IAH1_uc010yiz.1... Hybrid_Cap...
ADAM28 8 24211994 24211997 RCHACV_HAEMATOP... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
AKAP12 p.1531_1532insE 6 151674116 151674117 RCHACV_HAEMATOP... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP4 p.S244R X 49958632 49958632 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G T uc004dow.1 AKAP4_uc004dov.... Hybrid_Cap... view
ALPK1 p.I1134L 4 113360890 113360890 RCHACV_HAEMATOP... 37 Missense_Mutation SNP A T uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap... view
ALPK2 p.1388_1389FF>F 18 56203253 56203255 RCHACV_HAEMATOP... 37 In_Frame_Del Del AAG - uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap...
ALPK3 p.R1808W 15 85411385 85411385 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002ble.2 ALPK3_uc010upc.... Hybrid_Cap... view
BAX p.W188* 19 49464877 49464877 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP G A uc002plk.2 BAX_uc010xzx.1_... Hybrid_Cap... view
BIK p.LLL140del 22 43525245 43525253 RCHACV_HAEMATOP... 37 In_Frame_Del Del GCTGC... - rs62637687 uc003bdk.2 Hybrid_Cap...
BLNK 10 97951722 97951722 RCHACV_HAEMATOP... 37 3'UTR SNP T C uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
CABC1 1 227171585 227171585 RCHACV_HAEMATOP... 37 Intron Del T - uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap...
CACNA1F p.815_815E>EE X 49076224 49076225 RCHACV_HAEMATOP... 37 In_Frame_Ins Ins - TCC uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap...
CAMKK2 12 121681911 121681911 RCHACV_HAEMATOP... 37 Intron SNP G A uc001tzu.2 CAMKK2_uc001tzt... Hybrid_Cap... view
CARD10 p.KE272del 22 37906309 37906314 RCHACV_HAEMATOP... 37 In_Frame_Del Del CTCCT... - uc003asx.1 CARD10_uc003ast... Hybrid_Cap...
CDC42BPG p.Q772H 11 64601909 64601909 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C A uc001obs.3 Hybrid_Cap... view
CDH2 p.R561* 18 25568548 25568548 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP G A uc002kwg.2 CDH2_uc010xbn.1... Hybrid_Cap... view
CHD1 p.P1684del 5 98192165 98192167 RCHACV_HAEMATOP... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHEK2 p.N229H 22 29121001 29121001 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T G uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 RCHACV_HAEMATOP... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CNTN1 12 41302159 41302159 RCHACV_HAEMATOP... 37 De_novo_Start_OutOfFrame SNP G A uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 RCHACV_HAEMATOP... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CSNK1A1L p.G40S 13 37679276 37679276 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T rs112114979 uc001uwm.1 Hybrid_Cap... view
CSPP1 p.R956C 8 68076691 68076691 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003xxi.2 CSPP1_uc003xxj.... Hybrid_Cap... view
CSPP1 p.T1223T 8 68107726 68107726 RCHACV_HAEMATOP... 37 Silent SNP G A uc003xxi.2 ARFGEF1_uc003xx... Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 RCHACV_HAEMATOP... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTBP2 p.T553A 10 126714672 126714672 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T C uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CYFIP1 p.V112M 15 22928457 22928457 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYP19A1 p.R457* 15 51503148 51503148 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP G A rs72552260 uc001zyz.3 CYP19A1_uc001zz... Hybrid_Cap... view
DCLK1 p.P260L 13 36521539 36521539 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001uvf.2 Hybrid_Cap... view
DDB2 p.W203* 11 47256129 47256129 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP G A uc001neb.2 DDB2_uc001nec.2... Hybrid_Cap... view
DOCK3 p.V148M 3 51102005 51102005 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc011bds.1 Hybrid_Cap... view
DOCK3 p.T1850fs 3 51417604 51417604 RCHACV_HAEMATOP... 37 Frame_Shift_Del Del C - uc011bds.1 Hybrid_Cap...
DRD2 p.R61H 11 113295192 113295192 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001pnz.2 DRD2_uc010rwv.1... Hybrid_Cap... view
DST p.E4586K 6 56362287 56362287 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
ECM1 1 150482724 150482724 RCHACV_HAEMATOP... 37 Intron SNP G A uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
ELL p.A130A 19 18576301 18576301 RCHACV_HAEMATOP... 37 Silent SNP C T uc002njh.2 ELL_uc010ebq.2_... Hybrid_Cap... view
EPHA6 3 97367230 97367231 RCHACV_HAEMATOP... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA6 3 97467610 97467611 RCHACV_HAEMATOP... 37 3'UTR Ins - CT uc010how.1 Hybrid_Cap...
EPHB3 p.T928M 3 184299091 184299091 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003foz.2 Hybrid_Cap... view
ETV1 7 14028708 14028708 RCHACV_HAEMATOP... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
F8 p.R2228P X 154090033 154090033 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C G uc004fmt.2 F8_uc004fms.2_M... Hybrid_Cap... view
FASN p.A1883T 17 80040910 80040910 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002kdu.2 FASN_uc002kdv.1... Hybrid_Cap... view
FBN1 p.R609H 15 48800790 48800790 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001zwx.1 Hybrid_Cap... view
FGF1 p.Q78* 5 141980308 141980308 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP G A uc003lmm.2 FGF1_uc011dbi.1... Hybrid_Cap... view
FGFR2 p.C809Y 10 123239414 123239414 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR4 5 176524796 176524796 RCHACV_HAEMATOP... 37 3'UTR SNP C T uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 RCHACV_HAEMATOP... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNA p.V2230M X 153580630 153580630 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc004fki.2... Hybrid_Cap... view
FLNA p.R527H X 153593615 153593615 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc004fkk.2 FLNA_uc010nuu.1... Hybrid_Cap... view
FLNC p.R991* 7 128484099 128484099 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP C T uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT1 p.A1312T 13 28877387 28877387 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001usb.3 FLT1_uc010aap.2... Hybrid_Cap... view
FLT4 5 180035183 180035185 RCHACV_HAEMATOP... 37 Intron Del AGT - uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap...
FMN2 p.R1548* 1 240497232 240497232 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP C T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FOS p.A150V 14 75747318 75747318 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001xrn.2 FOS_uc010tva.1_... Hybrid_Cap... view
GLG1 p.K293E 16 74530440 74530440 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T C uc002fcx.2 GLG1_uc002fcy.3... Hybrid_Cap... view
GLI2 p.G85E 2 121685042 121685042 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc010flp.2 GLI2_uc010yyu.1... Hybrid_Cap... view
GLI3 p.R325H 7 42079691 42079691 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc011kbh.1 GLI3_uc011kbg.1... Hybrid_Cap... view
GLYATL2 11 58601858 58601858 RCHACV_HAEMATOP... 37 3'UTR Del T - uc001nnd.3 GLYATL2_uc009ym... Hybrid_Cap...
GNAS p.R665H 20 57430314 57430314 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc002xzw.2 GNAS_uc002xzt.2... Hybrid_Cap... view
GPR112 p.D2657del X 135474445 135474447 RCHACV_HAEMATOP... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 RCHACV_HAEMATOP... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GRIA3 p.R204C X 122459978 122459978 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap... view
GRK6 5 176868304 176868304 RCHACV_HAEMATOP... 37 Intron SNP G A uc011dfz.1 GRK6_uc003mgq.2... Hybrid_Cap... view
GUCY2D p.V308M 17 7907370 7907370 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc002gjt.2 Hybrid_Cap... view
HDAC6 p.R134W X 48664041 48664041 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc011mmi.1 HDAC6_uc004dkr.... Hybrid_Cap... view
HIPK2 p.V225I 7 139416161 139416161 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HIPK2 p.G160R 7 139416356 139416356 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003vvf.3 HIPK2_uc003vvd.... Hybrid_Cap... view
HMGA2 12 66345284 66345284 RCHACV_HAEMATOP... 37 3'UTR SNP G A uc001ssw.1 HMGA2_uc001ssx.... Hybrid_Cap... view
HNF1A p.T596I 12 121437428 121437428 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc010szn.1 HNF1A_uc001tzg.... Hybrid_Cap... view
HSP90B1 p.E791del 12 104341188 104341190 RCHACV_HAEMATOP... 37 In_Frame_Del Del GAA - rs117491163 uc001tkb.1 HSP90B1_uc010sw... Hybrid_Cap...
IKBKB p.L160_splice 8 42163859 42163859 RCHACV_HAEMATOP... 37 Splice_Site_SNP SNP A T uc003xow.1 IKBKB_uc003xov.... Hybrid_Cap... view
ILK 11 6630029 6630029 RCHACV_HAEMATOP... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INSR p.R1053H 19 7125394 7125394 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
INSR p.I388V 19 7172407 7172407 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T C uc002mgd.1 INSR_uc002mge.1... Hybrid_Cap... view
ITGB1 p.G609C 10 33200482 33200482 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C A uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap... view
ITPR1 p.A742V 3 4714840 4714840 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003bqa.2 ITPR1_uc010hca.... Hybrid_Cap... view
ITPR2 p.R470_splice 12 26834804 26834805 RCHACV_HAEMATOP... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
JAG1 p.P1190L 20 10620234 10620234 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc002wnw.2 Hybrid_Cap... view
JUND p.T245A 19 18391562 18391562 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T C uc002nip.2 Hybrid_Cap... view
KPNA5 p.R50H 6 117013228 117013228 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003pxh.2 Hybrid_Cap... view
KRAS p.V14I 12 25398279 25398279 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T rs104894365 uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
KTN1 p.R627C 14 56106686 56106686 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001xcb.2 KTN1_uc001xce.2... Hybrid_Cap... view
LHFP 13 39918036 39918036 RCHACV_HAEMATOP... 37 3'UTR SNP C T uc001uxf.2 Hybrid_Cap... view
LMNA 1 156109027 156109027 RCHACV_HAEMATOP... 37 3'UTR SNP T G uc001fni.2 LMNA_uc001fnh.2... Hybrid_Cap... view
LMTK3 p.E982K 19 49001469 49001469 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002pjk.2 Hybrid_Cap... view
MAF 16 79628537 79628537 RCHACV_HAEMATOP... 37 Intron Del T - uc002ffm.2 MAF_uc002ffn.2_... Hybrid_Cap...
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 RCHACV_HAEMATOP... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 RCHACV_HAEMATOP... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K1 15 66679649 66679650 RCHACV_HAEMATOP... 37 5'UTR Ins - C rs67229745 uc010bhq.2 Hybrid_Cap...
MAP3K1 p.T949del 5 56177849 56177851 RCHACV_HAEMATOP... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K14 p.R218_splice 17 43364293 43364294 RCHACV_HAEMATOP... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP3K4 p.R110Q 6 161455467 161455467 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap... view
MAP3K4 p.A1199del 6 161519351 161519353 RCHACV_HAEMATOP... 37 In_Frame_Del Del CTG - uc003qtn.2 MAP3K4_uc010kkc... Hybrid_Cap...
MAP4K1 p.A185V 19 39103362 39103362 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A rs75765388 uc002oix.1 MAP4K1_uc002oiy... Hybrid_Cap... view
MAPKBP1 15 42111753 42111754 RCHACV_HAEMATOP... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MARK3 p.R295H 14 103932415 103932415 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001ymz.3 MARK3_uc001ymx.... Hybrid_Cap... view
MAST3 p.W755R 19 18254583 18254583 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T C uc002nhz.3 Hybrid_Cap... view
MCM4 p.R610H 8 48883929 48883929 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003xqk.1 MCM4_uc003xql.1... Hybrid_Cap... view
MECOM p.R336Q 3 168838969 168838969 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc011bpj.1 MECOM_uc010hwk.... Hybrid_Cap... view
MGC42105 p.K417fs 5 43280769 43280769 RCHACV_HAEMATOP... 37 Frame_Shift_Del Del A - uc003jno.2 Hybrid_Cap...
MSH3 p.R779H 5 80074556 80074556 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003kgz.2 Hybrid_Cap... view
MSH6 p.T1085fs 2 48030639 48030640 RCHACV_HAEMATOP... 37 Frame_Shift_Ins Ins - C rs63750431 uc002rwd.3 MSH6_uc010fbj.2... Hybrid_Cap...
MTMR11 p.G111S 1 149907016 149907016 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001etl.3 MTMR11_uc001etm... Hybrid_Cap... view
NCAM1 11 112832307 112832308 RCHACV_HAEMATOP... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 RCHACV_HAEMATOP... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.QQQ1272del 20 46279815 46279823 RCHACV_HAEMATOP... 37 In_Frame_Del Del GCAGC... - uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NEK6 p.A237T 9 127089709 127089709 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc004boh.2 NEK6_uc004bof.2... Hybrid_Cap... view
NLRP1 p.A1262V 17 5424331 5424331 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc002gci.2 NLRP1_uc002gcg.... Hybrid_Cap... view
NOTCH1 p.T1161M 9 139402435 139402435 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc004chz.2 NOTCH1_uc004cia... Hybrid_Cap... view
NOTCH1 p.T194fs 9 139417461 139417462 RCHACV_HAEMATOP... 37 Frame_Shift_Ins Ins - GG uc004chz.2 Hybrid_Cap...
NPR2 p.R788H 9 35806221 35806221 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003zyd.2 NPR2_uc010mlb.2... Hybrid_Cap... view
NR1H2 p.176_177insQ 19 50881820 50881821 RCHACV_HAEMATOP... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 RCHACV_HAEMATOP... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
NUP98 p.R1739H 11 3697576 3697576 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001lyh.2 NUP98_uc001lyi.... Hybrid_Cap... view
OBSCN p.R5624Q 1 228525715 228525715 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc009xez.1 OBSCN_uc001hsn.... Hybrid_Cap... view
ODZ1 p.R2660H X 123514606 123514606 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc010nqy.2 ODZ1_uc011muj.1... Hybrid_Cap... view
OLFM4 p.V96M 13 53608564 53608564 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001vhl.2 OLFM4_uc001vhk.... Hybrid_Cap... view
PDK1 p.A369T 2 173451105 173451105 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc002uhq.1 PDK1_uc010zdz.1... Hybrid_Cap... view
PLD1 p.G270S 3 171431786 171431786 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003fhs.2 PLD1_uc003fht.2... Hybrid_Cap... view
POU5F1B p.C76Y 8 128428338 128428338 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PPARA p.T71T 22 46611074 46611074 RCHACV_HAEMATOP... 37 Silent SNP G A uc003bgw.1 PPARA_uc003bgx.... Hybrid_Cap... view
PPARD p.R122C 6 35389675 35389675 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003okm.2 PPARD_uc003okl.... Hybrid_Cap... view
PPARGC1A p.R676H 4 23803961 23803961 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003gqs.2 PPARGC1A_uc003g... Hybrid_Cap... view
PPM1E p.R311W 17 57047047 57047047 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002iwx.2 PPM1E_uc010ddd.... Hybrid_Cap... view
PPP3R2 p.R59W 9 104357038 104357038 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc004bbr.2 GRIN3A_uc004bbp... Hybrid_Cap... view
PRDM16 p.D985N 1 3342158 3342158 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001akf.2 PRDM16_uc001akc... Hybrid_Cap... view
PRKCA 17 64298959 64298960 RCHACV_HAEMATOP... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKCH p.R213C 14 61915905 61915905 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001xfn.2 PRKCH_uc010tsa.... Hybrid_Cap... view
PRKDC p.K3172T 8 48730053 48730053 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T G uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.R1822H 8 48777223 48777223 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap... view
PRKDC p.L1244fs 8 48805816 48805817 RCHACV_HAEMATOP... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
PTK2B p.R780Q 8 27303435 27303435 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003xfn.1 PTK2B_uc003xfo.... Hybrid_Cap... view
RAGE p.R56H 14 102732205 102732205 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001ylm.2 RAGE_uc010txv.1... Hybrid_Cap... view
RBBP8 p.K355fs 18 20572853 20572853 RCHACV_HAEMATOP... 37 Frame_Shift_Del Del A - uc002kua.2 RBBP8_uc002ktw.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 RCHACV_HAEMATOP... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RIPK3 p.W477R 14 24805509 24805509 RCHACV_HAEMATOP... 37 Missense_Mutation SNP A G uc001wpb.2 ADCY4_uc001wov.... Hybrid_Cap... view
RIPK3 p.P115P 14 24808347 24808347 RCHACV_HAEMATOP... 37 Silent SNP C T uc001wpb.2 RIPK3_uc001wpa.... Hybrid_Cap... view
ROS1 p.A1919T 6 117642444 117642444 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003pxp.1 ROS1_uc011ebi.1... Hybrid_Cap... view
RPS6KA2 p.R587H 6 166836802 166836802 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
RPS6KA2 p.G447R 6 166862280 166862280 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003qvd.1 RPS6KA2_uc011eg... Hybrid_Cap... view
RXRA 9 137313708 137313708 RCHACV_HAEMATOP... 37 Intron SNP G A uc004cfb.2 RXRA_uc004cfc.1... Hybrid_Cap... view
SIK3 p.G923S 11 116729096 116729096 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc001ppy.2 SIK3_uc001ppz.2... Hybrid_Cap... view
SNRK p.S646R 3 43389689 43389689 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C A uc003cms.3 SNRK_uc003cmt.3... Hybrid_Cap... view
SRC p.V140M 20 36022365 36022365 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc002xgx.2 SRC_uc002xgy.2_... Hybrid_Cap... view
SRPK1 6 35803038 35803038 RCHACV_HAEMATOP... 37 3'UTR SNP G A uc003olj.2 SRPK1_uc011dtg.... Hybrid_Cap... view
STAR 8 38008406 38008406 RCHACV_HAEMATOP... 37 5'UTR SNP C A uc003xkv.1 STAR_uc010lwc.1... Hybrid_Cap... view
STAT3 p.R335Q 17 40485736 40485736 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STK24 13 99105220 99105220 RCHACV_HAEMATOP... 37 3'UTR SNP C A uc001vnm.1 STK24_uc001vnn.... Hybrid_Cap... view
STK31 7 23872024 23872025 RCHACV_HAEMATOP... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
TAF1L p.R832H 9 32633083 32633083 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003zrg.1 Hybrid_Cap... view
TAL2 p.R12W 9 108424811 108424811 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc004bct.2 Hybrid_Cap... view
TEC 4 48139307 48139310 RCHACV_HAEMATOP... 37 3'UTR Del TTAT - rs79098351 uc003gxz.2 Hybrid_Cap...
TESK2 1 45810453 45810453 RCHACV_HAEMATOP... 37 3'UTR SNP G T uc001cns.1 TESK2_uc009vxr.... Hybrid_Cap... view
TFEB p.S223N 6 41655690 41655690 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc003oqu.1 TFEB_uc003oqs.1... Hybrid_Cap... view
TG p.A993T 8 133906150 133906150 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003ytw.2 Hybrid_Cap... view
TG p.S1015S 8 133909937 133909937 RCHACV_HAEMATOP... 37 Silent SNP G A uc003ytw.2 TG_uc010mdw.2_5... Hybrid_Cap... view
TGFBR2 p.A354T 3 30713660 30713660 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003cen.2 TGFBR2_uc003ceo... Hybrid_Cap... view
TIAM1 p.R388Q 21 32624306 32624306 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002yow.1 TIAM1_uc011adk.... Hybrid_Cap... view
TIE1 p.I211I 1 43772659 43772659 RCHACV_HAEMATOP... 37 Silent SNP C T uc001ciu.2 TIE1_uc010okd.1... Hybrid_Cap... view
TLE1 p.R110H 9 84267172 84267172 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc004alz.2 TLE1_uc004aly.2... Hybrid_Cap... view
TLN1 p.G1290V 9 35711602 35711602 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C A uc003zxt.2 Hybrid_Cap... view
TLX1 p.A293T 10 102896554 102896554 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001ksw.2 Hybrid_Cap... view
TMPRSS2 p.G465S 21 42840355 42840355 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T rs35579260 uc010gor.2 TMPRSS2_uc002yz... Hybrid_Cap... view
TNNI3K p.R742Q 1 74905217 74905217 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc001dge.1 TNNI3K_uc001dgd... Hybrid_Cap... view
TNRC6B p.Q1328del 22 40697177 40697179 RCHACV_HAEMATOP... 37 In_Frame_Del Del GCA - rs114291931 uc011aor.1 TNRC6B_uc003aym... Hybrid_Cap...
TP63 3 189507518 189507519 RCHACV_HAEMATOP... 37 Intron Ins - AGAG rs62702062;rs79714037 uc003fry.2 TP63_uc003frx.2... Hybrid_Cap...
TRIM33 1 114940230 114940230 RCHACV_HAEMATOP... 37 3'UTR Del T - uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM6 p.R1174* 9 77386635 77386635 RCHACV_HAEMATOP... 37 Nonsense_Mutation SNP G A uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TSSK1B p.A93V 5 112770259 112770259 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003kqm.2 MCC_uc003kql.3_... Hybrid_Cap... view
TTN p.H5013R 2 179594113 179594113 RCHACV_HAEMATOP... 37 Missense_Mutation SNP T C uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap... view
VEGFA p.E219K 6 43742126 43742126 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003owh.2 VEGFA_uc003owb.... Hybrid_Cap... view
VEGFC p.S419_splice 4 177605082 177605084 RCHACV_HAEMATOP... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
VRK2 p.P69L 2 58312035 58312035 RCHACV_HAEMATOP... 37 Missense_Mutation SNP C T uc002rzo.2 VRK2_uc010fcb.2... Hybrid_Cap... view
VRK3 p.P224P 19 50500768 50500768 RCHACV_HAEMATOP... 37 Silent SNP A G uc002prg.2 VRK3_uc002prh.1... Hybrid_Cap... view
WHSC1 p.E1099K 4 1962801 1962801 RCHACV_HAEMATOP... 37 Missense_Mutation SNP G A uc003gdz.3 WHSC1_uc003geb.... Hybrid_Cap... view