Annotation Summary for Cell Line: AMO-1  

Cell line primary name: AMO-1
Cell line aliases:
Gender: F
Site Primary: haematopoietic_and_lymphoid_tissue
Histology: lymphoid_neoplasm
Hist Subtype1: plasma_cell_myeloma
Notes:
Source: DSMZ
Expression arrays: WATCH_p_NCLE_RNA8_HG-U133_Plus_2_H11_474690
SNP arrays: CHARY_p_NCLE_DNAAffy9_GenomeWideSNP_6_E08_490384
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in AMO-1

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 AMO1_HAEMATOPOI... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCC3 p.R1381C 17 48762097 48762097 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T rs45461799 uc002isl.2 ABCC3_uc002isn.... Hybrid_Cap... view
ACACA 17 35766564 35766564 AMO1_HAEMATOPOI... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ADAM28 8 24211994 24211997 AMO1_HAEMATOPOI... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS2 p.N1178K 5 178540970 178540970 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc003mjw.2 Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 AMO1_HAEMATOPOI... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP9 p.A1909T 7 91690697 91690697 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALS2 2 202587706 202587707 AMO1_HAEMATOPOI... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ARAF p.R544C X 47430355 47430355 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc011mlq.1 Hybrid_Cap... view
ARHGEF12 p.C72C 11 120291478 120291478 AMO1_HAEMATOPOI... 37 Silent SNP C T uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ASPH p.A264_splice 8 62550924 62550925 AMO1_HAEMATOPOI... 37 Splice_Site_Ins Ins - A rs5891816 uc003xuj.2 ASPH_uc011leg.1... Hybrid_Cap...
ASPSCR1 p.V402A 17 79968712 79968712 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002kcy.2 ASPSCR1_uc002kc... Hybrid_Cap... view
ATM p.H291R 11 108115724 108115724 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP A G uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP13A5 p.I892N 3 193023351 193023351 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP A T uc011bsq.1 Hybrid_Cap... view
AURKC 19 57742494 57742507 AMO1_HAEMATOPOI... 37 5'UTR Del GGACG... - rs67926438;rs112039303;rs59094959 uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap...
AXIN2 17 63534262 63534262 AMO1_HAEMATOPOI... 37 Intron SNP T C uc002jfi.2 AXIN2_uc010den.... Hybrid_Cap... view
BCR 22 23632777 23632778 AMO1_HAEMATOPOI... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BMP4 p.K75R 14 54418717 54418717 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc001xal.3 BMP4_uc010aoh.2... Hybrid_Cap... view
CACNB2 10 18828758 18828758 AMO1_HAEMATOPOI... 37 3'UTR SNP C A uc001ipr.2 CACNB2_uc009xjz... Hybrid_Cap... view
CLK1 p.R353H 2 201721530 201721530 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010zhi.1 CLK1_uc002uwd.2... Hybrid_Cap... view
CLP1 p.E43D 11 57427077 57427077 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001nkw.2 CLP1_uc010rjw.1... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 AMO1_HAEMATOPOI... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CSK p.D332N 15 75094142 75094142 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010bkb.1 CSK_uc002ays.2_... Hybrid_Cap... view
CTBP2 p.V120fs 10 126715971 126715971 AMO1_HAEMATOPOI... 37 Frame_Shift_Del Del C - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTLA4 2 204737553 204737553 AMO1_HAEMATOPOI... 37 3'UTR SNP G A uc002vak.1 CTLA4_uc002val.... Hybrid_Cap... view
DACH1 13 72014625 72014626 AMO1_HAEMATOPOI... 37 3'UTR Ins - T rs117109529 uc010thn.1 DACH1_uc010tho.... Hybrid_Cap...
DFNA5 p.Y51H 7 24789243 24789243 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP A G uc010kus.1 DFNA5_uc003swz.... Hybrid_Cap... view
DST p.D3677N 6 56394455 56394455 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56507651 56507651 AMO1_HAEMATOPOI... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884966 38884967 AMO1_HAEMATOPOI... 37 3'UTR Ins - T rs72430212 uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
EGFR p.K209N 7 55219054 55219054 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003tqk.2 EGFR_uc003tqh.2... Hybrid_Cap... view
EPHA4 2 222290623 222290624 AMO1_HAEMATOPOI... 37 3'UTR Ins - T uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHB2 p.T654M 1 23233275 23233275 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
ERC1 12 1137018 1137020 AMO1_HAEMATOPOI... 37 5'UTR Del TTG - uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap...
ETV1 7 14028708 14028708 AMO1_HAEMATOPOI... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
FGFR3 4 1809128 1809129 AMO1_HAEMATOPOI... 37 3'UTR Del GT - uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap...
FLNB p.D1264E 3 58110126 58110126 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FN1 2 216244182 216244185 AMO1_HAEMATOPOI... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
GPR112 p.D2657del X 135474445 135474447 AMO1_HAEMATOPOI... 37 In_Frame_Del Del GAT - rs3030295 uc004ezu.1 GPR112_uc010nsb... Hybrid_Cap...
GRIA3 X 122318386 122318387 AMO1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66632982 uc004etq.3 GRIA3_uc004etr.... Hybrid_Cap...
GUCY2C 12 14827464 14827466 AMO1_HAEMATOPOI... 37 Intron Del ATC - rs72525754;rs3083879 uc001rcd.2 GUCY2C_uc009zhz... Hybrid_Cap...
HDAC4 p.R138C 2 240098187 240098187 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc002vyk.3 HDAC4_uc010fyz.... Hybrid_Cap... view
HIF1A 14 62213929 62213930 AMO1_HAEMATOPOI... 37 3'UTR Ins - T rs67890419 uc001xfs.2 HIF1A_uc001xfq.... Hybrid_Cap...
HNF1A 12 121434630 121434631 AMO1_HAEMATOPOI... 37 Intron Ins - TCATTCAT rs75100977 uc010szn.1 HNF1A_uc001tze.... Hybrid_Cap...
ILK 11 6630029 6630029 AMO1_HAEMATOPOI... 37 Intron Del C - uc001mee.2 ILK_uc001mef.2_... Hybrid_Cap...
INPP5D p.V538I 2 234078007 234078007 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010zmo.1 INPP5D_uc010zmp... Hybrid_Cap... view
ITGB1 10 33197131 33197134 AMO1_HAEMATOPOI... 37 Intron Del CTTT - rs116966876 uc001iwq.3 ITGB1_uc001iwp.... Hybrid_Cap...
ITPR2 p.R470_splice 12 26834804 26834805 AMO1_HAEMATOPOI... 37 Splice_Site_Ins Ins - ACTC rs66696203;rs59199365 uc001rhg.2 Hybrid_Cap...
KLK7 19 51480672 51480675 AMO1_HAEMATOPOI... 37 3'UTR Del GGTT - uc002puo.2 KLK7_uc002pup.2... Hybrid_Cap...
KRAS p.A146T 12 25378562 25378562 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001rgp.1 KRAS_uc001rgq.1... Hybrid_Cap... view
LRP1B p.Y4129C 2 141081590 141081590 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc002tvj.1 Hybrid_Cap... view
LRP1B p.W3229C 2 141215159 141215159 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002tvj.1 Hybrid_Cap... view
MAML2 p.604_607QQQQ>Q 11 95825375 95825383 AMO1_HAEMATOPOI... 37 In_Frame_Del Del TGCTG... - rs113349418 uc001pfw.1 Hybrid_Cap...
MAML3 p.Q767_splice 4 140651585 140651587 AMO1_HAEMATOPOI... 37 Splice_Site_Del Del CTG - uc003ihz.1 MGST2_uc010ioi.... Hybrid_Cap...
MAP2K2 p.Q60P 19 4117541 4117541 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T G uc002lzk.2 Hybrid_Cap... view
MAP3K1 p.T949del 5 56177849 56177851 AMO1_HAEMATOPOI... 37 In_Frame_Del Del CAA - uc003jqw.3 Hybrid_Cap...
MAP3K13 3 185200333 185200333 AMO1_HAEMATOPOI... 37 3'UTR SNP T A uc010hyf.2 MAP3K13_uc011br... Hybrid_Cap... view
MAP3K14 p.R218_splice 17 43364293 43364294 AMO1_HAEMATOPOI... 37 Splice_Site_Ins Ins - G rs66766023 uc002iiw.1 MAP3K14_uc010da... Hybrid_Cap...
MAP4K3 p.T368T 2 39535099 39535099 AMO1_HAEMATOPOI... 37 Silent SNP A C uc002rro.2 MAP4K3_uc002rrp... Hybrid_Cap... view
MAPK14 6 36076345 36076354 AMO1_HAEMATOPOI... 37 3'UTR Del GTGTG... - rs80147786 uc003olp.2 MAPK14_uc003olq... Hybrid_Cap...
MAPKBP1 15 42111753 42111754 AMO1_HAEMATOPOI... 37 Intron Ins - C rs3034891 uc001zok.3 MAPKBP1_uc001zo... Hybrid_Cap...
MCL1 1 150549737 150549744 AMO1_HAEMATOPOI... 37 3'UTR Del GCTAG... - rs116997851 uc001euz.2 MCL1_uc010pch.1... Hybrid_Cap...
MKL1 p.R813C 22 40807753 40807753 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc003ayv.1 MKL1_uc003ayw.1... Hybrid_Cap... view
MLLT10 p.R688H 10 22016809 22016809 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc001iqs.2 MLLT10_uc001iqt... Hybrid_Cap... view
MMP20 p.N37K 11 102495940 102495940 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc001phc.2 Hybrid_Cap... view
MYLK 3 123332876 123332876 AMO1_HAEMATOPOI... 37 3'UTR Del T - rs115544676 uc003ego.2 MYLK_uc003egl.2... Hybrid_Cap...
MYT1 20 62871968 62871968 AMO1_HAEMATOPOI... 37 3'UTR SNP G C uc002yii.2 MYT1_uc002yij.2... Hybrid_Cap... view
NAV3 p.S887R 12 78510576 78510576 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc001syp.2 NAV3_uc001syo.2... Hybrid_Cap... view
NCAM1 11 112832307 112832308 AMO1_HAEMATOPOI... 37 5'UTR Ins - A rs117108942 uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCAM1 11 112832340 112832340 AMO1_HAEMATOPOI... 37 5'UTR Del C - uc009yyq.1 NCAM1_uc001pno.... Hybrid_Cap...
NCOA3 p.Q1276del 20 46279837 46279839 AMO1_HAEMATOPOI... 37 In_Frame_Del Del CAG - rs2664555 uc002xtk.2 NCOA3_uc010ght.... Hybrid_Cap...
NPM1 5 170837734 170837734 AMO1_HAEMATOPOI... 37 3'UTR Del T - uc011dex.1 NPM1_uc003mbi.2... Hybrid_Cap...
NPRL2 3 50384978 50384978 AMO1_HAEMATOPOI... 37 3'UTR Del C - rs75013672 uc003daj.1 ZMYND10_uc003da... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881820 50881821 AMO1_HAEMATOPOI... 37 In_Frame_Ins Ins - AAC rs66783852;rs112359270 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NR1H2 p.176_177insQ 19 50881822 50881823 AMO1_HAEMATOPOI... 37 In_Frame_Ins Ins - CAG rs61751954;rs1052533 uc010enw.2 NR1H2_uc002prv.... Hybrid_Cap...
NUP214 9 134067556 134067557 AMO1_HAEMATOPOI... 37 Intron Ins - T rs66652901 uc004cag.2 NUP214_uc004cah... Hybrid_Cap...
P2RX7 p.P582S 12 121622561 121622561 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc001tzm.2 P2RX7_uc001tzn.... Hybrid_Cap... view
PAPPA p.C622R 9 118974157 118974157 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc004bjn.2 PAPPA_uc011lxp.... Hybrid_Cap... view
PAX3 2 223066017 223066018 AMO1_HAEMATOPOI... 37 Intron Ins - C rs115619343 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PAX3 2 223158653 223158653 AMO1_HAEMATOPOI... 37 Intron Del T - rs112753212 uc002vmt.1 PAX3_uc002vmy.1... Hybrid_Cap...
PDE4DIP 1 144852294 144852294 AMO1_HAEMATOPOI... 37 3'UTR SNP T A uc001elw.3 NBPF10_uc009wir... Hybrid_Cap... view
PDZRN4 p.G246S 12 41949530 41949530 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc010skn.1 PDZRN4_uc001rmq... Hybrid_Cap... view
PIK3C2A 11 17111198 17111199 AMO1_HAEMATOPOI... 37 3'UTR Del GT - uc001mmq.3 PIK3C2A_uc009yg... Hybrid_Cap...
PIP4K2A 10 22825887 22825887 AMO1_HAEMATOPOI... 37 3'UTR Del C - uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap...
PIP4K2A 10 22825895 22825897 AMO1_HAEMATOPOI... 37 3'UTR Del CAA - rs117970263;rs34780922;rs117497219 uc001irl.3 PIP4K2A_uc010qc... Hybrid_Cap...
PLCB2 p.K1046N 15 40582849 40582849 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C G uc001zld.2 PLCB2_uc001zlc.... Hybrid_Cap... view
PML 15 74326715 74326715 AMO1_HAEMATOPOI... 37 Intron Del C - uc002awv.2 PML_uc002awm.2_... Hybrid_Cap...
POU5F1B p.P255S 8 128428874 128428874 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003ysf.2 LOC727677_uc003... Hybrid_Cap... view
PPP3R1 p.F15_splice 2 68415824 68415824 AMO1_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc002sei.1 Hybrid_Cap... view
PRKAA2 p.I32_splice 1 57140052 57140052 AMO1_HAEMATOPOI... 37 Splice_Site_SNP SNP A T uc001cyk.3 Hybrid_Cap... view
PRKACG p.P170T 9 71628501 71628501 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc004agy.2 Hybrid_Cap... view
PRKCA 17 64298959 64298960 AMO1_HAEMATOPOI... 37 5'UTR Ins - G rs71160558 uc002jfp.1 PRKCA_uc002jfo.... Hybrid_Cap...
PRKDC p.L1244fs 8 48805816 48805817 AMO1_HAEMATOPOI... 37 Frame_Shift_Ins Ins - G rs67588121 uc003xqi.2 PRKDC_uc003xqj.... Hybrid_Cap...
RECQL4 p.R766fs 8 145738768 145738768 AMO1_HAEMATOPOI... 37 Frame_Shift_Del Del G - uc003zdj.2 Hybrid_Cap...
RELA 11 65423023 65423023 AMO1_HAEMATOPOI... 37 Intron SNP G A rs76584376 uc010ron.1 RELA_uc001ofg.2... Hybrid_Cap... view
RPS6KL1 14 75373626 75373627 AMO1_HAEMATOPOI... 37 3'UTR Ins - TGAT uc001xqx.1 RPS6KL1_uc001xq... Hybrid_Cap...
SACS p.E1162V 13 23914530 23914530 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SACS p.A121S 13 23939401 23939401 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc001uon.2 SACS_uc001uoo.2... Hybrid_Cap... view
SEMA5B p.Y1128S 3 122629063 122629063 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T G uc003efz.1 SEMA5B_uc011bju... Hybrid_Cap... view
SLC6A8 X 152957656 152957657 AMO1_HAEMATOPOI... 37 Intron Ins - A uc004fib.3 SLC6A8_uc004fic... Hybrid_Cap...
SRPK2 p.D415G 7 104782754 104782754 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP T C uc003vcv.2 SRPK2_uc003vct.... Hybrid_Cap... view
SSU72 1 1479105 1479106 AMO1_HAEMATOPOI... 37 Intron Ins - CT rs33935832;rs79833722 uc001agd.2 SSU72_uc009vkg.... Hybrid_Cap...
STAT3 p.C712Y 17 40469209 40469209 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002hzl.1 STAT3_uc002hzk.... Hybrid_Cap... view
STIL p.I262_splice 1 47759218 47759218 AMO1_HAEMATOPOI... 37 Splice_Site_SNP SNP T A uc001crd.1 TAL1_uc001crb.1... Hybrid_Cap... view
STK31 7 23872024 23872025 AMO1_HAEMATOPOI... 37 3'UTR Ins - TTTG rs66787534 uc003sws.3 STK31_uc003swt.... Hybrid_Cap...
STRADA p.G94V 17 61790833 61790833 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C A uc002jbm.2 STRADA_uc002jbn... Hybrid_Cap... view
TAF15 p.R528L 17 34171886 34171886 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G T uc002hkd.2 TAF15_uc002hkc.... Hybrid_Cap... view
TAOK3 12 118588761 118588762 AMO1_HAEMATOPOI... 37 3'UTR Ins - T rs116872184 uc001twx.2 TAOK3_uc001twv.... Hybrid_Cap...
TCERG1L 10 132891407 132891407 AMO1_HAEMATOPOI... 37 3'UTR SNP T C uc001lkp.2 Hybrid_Cap... view
TET2 p.E817K 4 106157485 106157485 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G A uc011cez.1 TET2_uc003hxk.2... Hybrid_Cap... view
TEX14 p.C1014Y 17 56663209 56663209 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc010dcz.1 TEX14_uc002iwr.... Hybrid_Cap... view
TNFRSF18 p.R139R 1 1139322 1139322 AMO1_HAEMATOPOI... 37 Silent SNP G T uc001add.2 TNFRSF18_uc001a... Hybrid_Cap... view
TNIK p.L73W 3 170928993 170928993 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP A C uc003fhh.2 TNIK_uc003fhi.2... Hybrid_Cap... view
TNKS2 p.V142_splice 10 93572965 93572965 AMO1_HAEMATOPOI... 37 Splice_Site_SNP SNP G A uc001khp.2 Hybrid_Cap... view
TPPP p.A44T 5 678046 678046 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc003jbg.3 TPPP_uc003jbh.3... Hybrid_Cap... view
TRIM28 p.P814L 19 59061853 59061853 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc002qtg.1 TRIM28_uc010eut... Hybrid_Cap... view
TRIM33 1 114940211 114940212 AMO1_HAEMATOPOI... 37 3'UTR Ins - T rs66490349 uc001eew.2 TRIM33_uc010owr... Hybrid_Cap...
TRPM6 p.M1162I 9 77386669 77386669 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP C T uc004ajl.1 TRPM6_uc004ajk.... Hybrid_Cap... view
TRPS1 8 116635872 116635873 AMO1_HAEMATOPOI... 37 5'UTR Ins - A rs76893349 uc003yny.2 TRPS1_uc011lhy.... Hybrid_Cap...
TTBK2 p.L414V 15 43069398 43069398 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP G C uc001zqo.2 TTBK2_uc010bcy.... Hybrid_Cap... view
TTN 2 179391639 179391640 AMO1_HAEMATOPOI... 37 3'UTR Ins - T rs36037175 uc010zfg.1 TTN_uc010zfh.1_... Hybrid_Cap...
VEGFC p.S419_splice 4 177605082 177605084 AMO1_HAEMATOPOI... 37 Splice_Site_Del Del TCA - uc003ius.1 Hybrid_Cap...
ZAK p.S733C 2 174131272 174131272 AMO1_HAEMATOPOI... 37 Missense_Mutation SNP A T uc002uhz.2 Hybrid_Cap... view