Annotation Summary for Cell Line: HCT-15  

Cell line primary name: HCT-15
Cell line aliases:
Gender: M
Site Primary: large_intestine
Histology: carcinoma
Hist Subtype1: adenocarcinoma
Notes: Identical lines: HRT18, HCT15 and DLD1 share high SNP identity
Source: ATCC
Expression arrays: BRAKE_p_NCLE_RNA2_HG-U133_Plus_2_B01_241066
SNP arrays: ARLES_p_NCLE_DNAAffy2_S_GenomeWideSNP_6_B09_256042
Oncomap: yes
Hybrid Capture Sequencing: yes


Mutations in HCT-15

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 HCT15_LARGE_INT... 37 In_Frame_Del Del TGT - rs55712143 uc002sfp.2 AAK1_uc010fdk.2... Hybrid_Cap...
ABCA3 p.E195G 16 2373553 2373553 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCA3 p.T25M 16 2376256 2376256 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002cpy.1 ABCA3_uc010bsk.... Hybrid_Cap... view
ABCC3 p.S646_splice 17 48746282 48746282 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP T C uc002isl.2 Hybrid_Cap... view
ABCC3 p.V806M 17 48750836 48750836 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002isl.2 Hybrid_Cap... view
ABL2 1 179086419 179086420 HCT15_LARGE_INT... 37 Intron Ins - A rs72207641 uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap...
ABL2 p.Q994H 1 179077420 179077420 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001gmj.3 ABL2_uc010pnf.1... Hybrid_Cap... view
ACACA p.E2318D 17 35445947 35445947 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA p.C1292S 17 35563771 35563771 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc002hno.2 ACACA_uc002hnk.... Hybrid_Cap... view
ACACA 17 35766564 35766564 HCT15_LARGE_INT... 37 5'UTR Del A - uc002hno.2 ACACA_uc002hnn.... Hybrid_Cap...
ACACB p.R1890I 12 109685508 109685508 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001tob.2 ACACB_uc001toc.... Hybrid_Cap... view
ACVR1B p.W320* 12 52377808 52377808 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G A uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR1B p.R337G 12 52377857 52377857 HCT15_LARGE_INT... 37 Missense_Mutation SNP C G uc010snn.1 ACVR1B_uc001rzl... Hybrid_Cap... view
ACVR1B p.V487D 12 52385722 52385722 HCT15_LARGE_INT... 37 Missense_Mutation SNP T A uc010snn.1 ACVR1B_uc001rzm... Hybrid_Cap... view
ACVR2A p.K435fs 2 148683686 148683686 HCT15_LARGE_INT... 37 Frame_Shift_Del Del A - uc002twg.2 ACVR2A_uc010zbn... Hybrid_Cap...
ACVR2B p.M239T 3 38520668 38520668 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003cif.2 ACVR2B_uc003cig... Hybrid_Cap... view
ADAM12 p.G308E 10 127787067 127787067 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001ljk.2 ADAM12_uc010qul... Hybrid_Cap... view
ADAM28 p.L72fs 8 24167472 24167473 HCT15_LARGE_INT... 37 Frame_Shift_Ins Ins - A uc003xdy.2 ADAM28_uc003xdx... Hybrid_Cap...
ADAM28 8 24211994 24211997 HCT15_LARGE_INT... 37 3'UTR Del CTAT - rs10610134 uc003xdy.2 ADAM28_uc011laa... Hybrid_Cap...
ADAMTS18 p.E107V 16 77465367 77465367 HCT15_LARGE_INT... 37 Missense_Mutation SNP T A uc002ffc.3 ADAMTS18_uc002f... Hybrid_Cap... view
ADAMTS18 p.S373F 16 77396100 77396100 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap... view
ADAMTS18 p.F695fs 16 77356311 77356311 HCT15_LARGE_INT... 37 Frame_Shift_Del Del A - uc002ffc.3 ADAMTS18_uc010c... Hybrid_Cap...
ADAMTS19 p.A850S 5 129015516 129015516 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc003kvb.1 ADAMTS19_uc010j... Hybrid_Cap... view
ADAMTS2 p.L819_splice 5 178556931 178556931 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP A G uc003mjw.2 Hybrid_Cap... view
ADAMTSL3 15 84694234 84694234 HCT15_LARGE_INT... 37 Intron SNP C T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADAMTSL3 15 84694247 84694247 HCT15_LARGE_INT... 37 Intron SNP A G uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
ADAMTSL3 p.G1595W 15 84705553 84705553 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002bjz.3 ADAMTSL3_uc010b... Hybrid_Cap... view
AFF1 4 87968820 87968820 HCT15_LARGE_INT... 37 Intron SNP G C uc011ccz.1 AFF1_uc011ccx.1... Hybrid_Cap... view
AFF3 p.Q144R 2 100623741 100623741 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc002taf.2 AFF3_uc002tag.2... Hybrid_Cap... view
AGAP2 p.A963T 12 58121336 58121336 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001spq.2 AGAP2_uc001spo.... Hybrid_Cap... view
AKAP12 p.1531_1532insE 6 151674116 151674117 HCT15_LARGE_INT... 37 In_Frame_Ins Ins - GAG rs34737819 uc011eep.1 AKAP12_uc003qoe... Hybrid_Cap...
AKAP6 p.G543A 14 33015487 33015487 HCT15_LARGE_INT... 37 Missense_Mutation SNP G C uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
AKAP6 p.L645S 14 33015793 33015793 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc001wrq.2 AKAP6_uc010aml.... Hybrid_Cap... view
AKAP9 p.1335_1336insQ 7 91652178 91652179 HCT15_LARGE_INT... 37 In_Frame_Ins Ins - AAC rs34756483 uc003ulg.2 AKAP9_uc003ule.... Hybrid_Cap...
AKAP9 p.Q2236H 7 91706264 91706264 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
AKAP9 p.P3530L 7 91727090 91727090 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003ulg.2 AKAP9_uc003ulf.... Hybrid_Cap... view
ALPK1 p.F61S 4 113303614 113303614 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003iap.3 ALPK1_uc003iam.... Hybrid_Cap... view
ALPK1 p.K1140* 4 113360908 113360908 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP A T uc003iap.3 ALPK1_uc003ian.... Hybrid_Cap... view
ALPK2 p.G1433W 18 56203122 56203122 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002lhj.3 ALPK2_uc002lhk.... Hybrid_Cap... view
ALPK2 18 56148906 56148906 HCT15_LARGE_INT... 37 3'UTR SNP G T uc002lhj.3 Hybrid_Cap... view
ALPK2 p.P2143L 18 56149140 56149140 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A rs35196844 uc002lhj.3 Hybrid_Cap... view
ALPK3 p.Q795H 15 85399748 85399748 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002ble.2 Hybrid_Cap... view
ALPK3 p.A1810V 15 85411392 85411392 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc002ble.2 ALPK3_uc010upc.... Hybrid_Cap... view
ALS2 2 202587706 202587707 HCT15_LARGE_INT... 37 Intron Ins - A rs3219165 uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap...
ALS2 p.S710I 2 202609022 202609022 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002uyo.2 ALS2_uc002uyp.3... Hybrid_Cap... view
AMHR2 p.G142C 12 53818684 53818684 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001scx.1 AMHR2_uc009zmy.... Hybrid_Cap... view
ANAPC5 p.S235S 12 121775148 121775148 HCT15_LARGE_INT... 37 Silent SNP G T uc001uag.2 ANAPC5_uc001uae... Hybrid_Cap... view
APBB1IP p.I83N 10 26789835 26789835 HCT15_LARGE_INT... 37 Missense_Mutation SNP T A uc001iss.2 APBB1IP_uc001is... Hybrid_Cap... view
APC p.R727M 5 112173471 112173471 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.K993N 5 112174270 112174270 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.G1416fs 5 112175539 112175539 HCT15_LARGE_INT... 37 Frame_Shift_Del Del C - uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap...
APC p.K1561N 5 112175974 112175974 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.R2166* 5 112177787 112177787 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C T uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
APC p.E2550Q 5 112178939 112178939 HCT15_LARGE_INT... 37 Missense_Mutation SNP G C uc010jby.2 APC_uc011cvt.1_... Hybrid_Cap... view
AR X 66943813 66943813 HCT15_LARGE_INT... 37 3'UTR SNP A G uc004dwu.1 AR_uc004dwv.1_3... Hybrid_Cap... view
ARFGEF1 p.F1330I 8 68138347 68138347 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc003xxo.1 ARFGEF1_uc003xx... Hybrid_Cap... view
ARHGEF10 p.R1316C 8 1905340 1905340 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003wpr.2 ARHGEF10_uc003w... Hybrid_Cap... view
ARHGEF12 p.R26Q 11 120278467 120278467 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARHGEF12 p.R993H 11 120343781 120343781 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A rs34726241 uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARHGEF12 p.E1484K 11 120352181 120352181 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001pxl.1 ARHGEF12_uc009z... Hybrid_Cap... view
ARHGEF7 p.R759H 13 111944543 111944543 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001vrs.2 ARHGEF7_uc001vr... Hybrid_Cap... view
ASTN1 p.A1089T 1 176852092 176852092 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ASTN1 p.E592D 1 176926925 176926925 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001glc.2 ASTN1_uc001glb.... Hybrid_Cap... view
ATM p.E586D 11 108122714 108122714 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001pkb.1 ATM_uc009yxr.1_... Hybrid_Cap... view
ATP10A p.K1414N 15 25924746 25924746 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc010ayu.2 Hybrid_Cap... view
ATP10A p.R208W 15 26026198 26026198 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc010ayu.2 Hybrid_Cap... view
ATP13A5 p.L1136I 3 192993082 192993082 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc011bsq.1 Hybrid_Cap... view
ATP8B1 p.R541M 18 55351276 55351276 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002lgw.2 Hybrid_Cap... view
ATP8B1 p.R296C 18 55362457 55362457 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002lgw.2 Hybrid_Cap... view
ATR p.I1851V 3 142217446 142217446 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003eux.3 Hybrid_Cap... view
ATR p.T1798A 3 142217605 142217605 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003eux.3 Hybrid_Cap... view
ATRX p.L629R X 76938862 76938862 HCT15_LARGE_INT... 37 Missense_Mutation SNP A C uc004ecp.3 ATRX_uc004ecq.3... Hybrid_Cap... view
AURKA p.T333I 20 54945572 54945572 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap... view
AURKA p.S10P 20 54963226 54963226 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002xxd.1 AURKA_uc002xxe.... Hybrid_Cap... view
AURKC 19 57742445 57742445 HCT15_LARGE_INT... 37 5'UTR SNP G A uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap... view
AURKC p.G17C 19 57742665 57742665 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002qoe.2 AURKC_uc002qoc.... Hybrid_Cap... view
AXIN1 16 397059 397059 HCT15_LARGE_INT... 37 5'UTR SNP G A uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
AXIN1 16 397074 397074 HCT15_LARGE_INT... 37 5'UTR SNP A T uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
AXIN1 p.L396M 16 354372 354372 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T rs34440193 uc002cgp.1 AXIN1_uc002cgq.... Hybrid_Cap... view
AXL p.L693P 19 41762398 41762398 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc010ehj.2 CYP2F1_uc010xvw... Hybrid_Cap... view
BAI3 p.Y193H 6 69349144 69349144 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003pev.3 BAI3_uc010kak.2... Hybrid_Cap... view
BAP1 p.T517M 3 52437611 52437611 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003ddx.2 BAP1_uc003ddw.2... Hybrid_Cap... view
BCL2L11 2 111921910 111921910 HCT15_LARGE_INT... 37 3'UTR SNP G A uc002tgv.1 BCL2L11_uc002tg... Hybrid_Cap... view
BCL9 p.R1363Q 1 147096567 147096567 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001epq.2 BCL9_uc010ozr.1... Hybrid_Cap... view
BCR 22 23631813 23631814 HCT15_LARGE_INT... 37 Intron Ins - C rs66503844 uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BCR 22 23632777 23632778 HCT15_LARGE_INT... 37 Intron Ins - T uc002zww.2 BCR_uc002zwx.2_... Hybrid_Cap...
BIRC3 p.D201Y 11 102195841 102195841 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001pgx.2 Hybrid_Cap... view
BIRC6 p.P3477H 2 32738083 32738083 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc010ezu.2 Hybrid_Cap... view
BLNK p.R148K 10 97983664 97983664 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BLNK p.P143H 10 97983679 97983679 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001kls.3 BLNK_uc001kme.3... Hybrid_Cap... view
BMF 15 40383876 40383876 HCT15_LARGE_INT... 37 3'UTR SNP A G uc001zkv.2 BMF_uc001zkt.2_... Hybrid_Cap... view
BMP2K 4 79800197 79800197 HCT15_LARGE_INT... 37 Intron SNP T A uc003hlk.2 BMP2K_uc003hlj.... Hybrid_Cap... view
BMP2K p.H1075Q 4 79832926 79832926 HCT15_LARGE_INT... 37 Missense_Mutation SNP T G uc003hlk.2 PAQR3_uc003hlm.... Hybrid_Cap... view
BMPR2 p.R211* 2 203383554 203383554 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C T uc002uzf.3 BMPR2_uc010ftr.... Hybrid_Cap... view
BMX p.W649* X 15568114 15568114 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G A uc004cww.2 BMX_uc004cwx.3_... Hybrid_Cap... view
BRCA1 p.P1190H 17 41243979 41243979 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002ict.2 BRCA1_uc010whp.... Hybrid_Cap... view
BRCA2 p.C1200fs 13 32912090 32912091 HCT15_LARGE_INT... 37 Frame_Shift_Del Del TG - rs80358607 uc001uub.1 Hybrid_Cap...
BRCA2 p.Q1782fs 13 32913837 32913837 HCT15_LARGE_INT... 37 Frame_Shift_Del Del A - uc001uub.1 Hybrid_Cap...
BRCA2 p.R2784Q 13 32944558 32944558 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A rs80359076 uc001uub.1 Hybrid_Cap... view
BRD3 p.P299S 9 136913396 136913396 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BRD3 p.R278Q 9 136913458 136913458 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc004cew.2 BRD3_uc004cex.2... Hybrid_Cap... view
BRD4 p.P750L 19 15355374 15355374 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002nar.2 Hybrid_Cap... view
BRD4 p.E451G 19 15367974 15367974 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap... view
BRD4 19 15383926 15383926 HCT15_LARGE_INT... 37 5'UTR SNP A G uc002nar.2 BRD4_uc002nas.2... Hybrid_Cap... view
BRDT 1 92428281 92428281 HCT15_LARGE_INT... 37 5'UTR SNP T C uc010osz.1 BRDT_uc001dok.3... Hybrid_Cap... view
BUB1 p.E567_splice 2 111413494 111413494 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP C T uc002tgc.2 BUB1_uc010yxh.1... Hybrid_Cap... view
C6ORF97 6 151939471 151939471 HCT15_LARGE_INT... 37 3'UTR SNP G A uc003qol.2 Hybrid_Cap... view
CABC1 p.P188H 1 227153086 227153086 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001hqm.1 CABC1_uc010pvp.... Hybrid_Cap... view
CABC1 1 227171605 227171605 HCT15_LARGE_INT... 37 Intron SNP G T uc001hqm.1 CABC1_uc001hqn.... Hybrid_Cap... view
CACNA1F p.F208L X 49086969 49086969 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc004dnb.2 CACNA1F_uc010ni... Hybrid_Cap... view
CAMK1 p.G214S 3 9802445 9802445 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003bst.2 OGG1_uc003bsk.2... Hybrid_Cap... view
CAMK4 p.D35N 5 110560284 110560284 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc011cvj.1 CAMK4_uc003kpf.... Hybrid_Cap... view
CAMKV p.F3S 3 49899814 49899814 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc003cxt.1 CAMKV_uc011bcy.... Hybrid_Cap... view
CARD9 p.I361T 9 139262276 139262276 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc004chg.3 CARD9_uc011mdw.... Hybrid_Cap... view
CARS p.G412R 11 3041482 3041482 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001lxf.2 CARS_uc001lxe.2... Hybrid_Cap... view
CASC5 p.E46_splice 15 40901044 40901044 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP G A uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASC5 p.Q167R 15 40912884 40912884 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASC5 p.Q1468R 15 40916787 40916787 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc010bbs.1 CASC5_uc010ucq.... Hybrid_Cap... view
CASP1 11 104896949 104896949 HCT15_LARGE_INT... 37 Intron SNP G A uc010rve.1 CASP1_uc001pig.... Hybrid_Cap... view
CASP10 p.K14N 2 202050542 202050542 HCT15_LARGE_INT... 37 Missense_Mutation SNP A C uc002uxj.1 CASP10_uc002uxi... Hybrid_Cap... view
CASP8 p.P291H 2 202141584 202141584 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002uxt.1 CASP8_uc002uxo.... Hybrid_Cap... view
CBL p.S403F 11 119148988 119148988 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001pwe.2 Hybrid_Cap... view
CCNA1 p.M45L 13 37007194 37007194 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc001uvr.3 CCNA1_uc010teo.... Hybrid_Cap... view
CCNB1 p.G161R 5 68467214 68467214 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003jvm.2 CCNB1_uc011crd.... Hybrid_Cap... view
CCND2 p.L100R 12 4385274 4385274 HCT15_LARGE_INT... 37 Missense_Mutation SNP T G uc001qmo.2 Hybrid_Cap... view
CCND2 12 4409271 4409271 HCT15_LARGE_INT... 37 3'UTR Del A - uc001qmo.2 Hybrid_Cap...
CCR6 6 167417464 167417464 HCT15_LARGE_INT... 37 5'UTR SNP A T uc003qvl.2 FGFR1OP_uc011eg... Hybrid_Cap... view
CDC25A 3 48200350 48200350 HCT15_LARGE_INT... 37 3'UTR SNP C T uc003csh.1 CDC25A_uc003csi... Hybrid_Cap... view
CDC25A p.T349I 3 48207367 48207367 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003csh.1 CDC25A_uc003csi... Hybrid_Cap... view
CDC42BPG p.R775C 11 64601902 64601902 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001obs.3 Hybrid_Cap... view
CDC73 p.K524N 1 193219818 193219818 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001gtb.2 Hybrid_Cap... view
CDH11 p.L624I 16 64984694 64984694 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 p.G242S 16 65025758 65025758 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 p.K106K 16 65032670 65032670 HCT15_LARGE_INT... 37 Silent SNP T C uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 p.G96* 16 65032702 65032702 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C A uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH11 16 64981484 64981484 HCT15_LARGE_INT... 37 3'UTR SNP G T uc002eoi.2 CDH11_uc010cdn.... Hybrid_Cap... view
CDH3 p.Q82R 16 68710372 68710372 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002ewf.2 CDH3_uc010vli.1... Hybrid_Cap... view
CDK1 p.A250V 10 62552001 62552001 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001jld.2 CDK1_uc001jle.2... Hybrid_Cap... view
CDK11B 1 1654066 1654068 HCT15_LARGE_INT... 37 Intron Del GCG - uc001agv.1 CDK11B_uc001aha... Hybrid_Cap...
CDK11B p.F615L 1 1572116 1572116 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001agv.1 CDK11B_uc009vkj... Hybrid_Cap... view
CDK20 p.L203fs 9 90584791 90584791 HCT15_LARGE_INT... 37 Frame_Shift_Del Del G - uc004apr.2 CDK20_uc004aps.... Hybrid_Cap...
CDK20 p.V30I 9 90588938 90588938 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc004apr.2 CDK20_uc004aps.... Hybrid_Cap... view
CDK5 p.G138E 7 150752689 150752689 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003wir.1 CDK5_uc003wis.1... Hybrid_Cap... view
CDK5 p.K56N 7 150754021 150754021 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003wir.1 CDK5_uc003wis.1... Hybrid_Cap... view
CDK8 p.Q134H 13 26927963 26927963 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDK8 p.W198C 13 26959427 26959427 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001uqr.1 CDK8_uc001uqs.1... Hybrid_Cap... view
CDK9 9 130551978 130551978 HCT15_LARGE_INT... 37 3'UTR SNP G C uc004bse.2 Hybrid_Cap... view
CDKL1 p.T331S 14 50796878 50796878 HCT15_LARGE_INT... 37 Missense_Mutation SNP T A uc001wxz.2 ATP5S_uc010ant.... Hybrid_Cap... view
CDKL3 5 133541548 133541548 HCT15_LARGE_INT... 37 3'UTR Del A - rs2239543 uc011cxm.1 PPP2CA_uc003kze... Hybrid_Cap...
CDKL5 p.N129D X 18598070 18598070 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc004cym.2 CDKL5_uc004cyn.... Hybrid_Cap... view
CEP110 p.W187* 9 123858781 123858781 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G A uc004bkx.1 CEP110_uc004bkw... Hybrid_Cap... view
CEP110 9 123939699 123939699 HCT15_LARGE_INT... 37 3'UTR Del T - rs75910820 uc004bkx.1 CEP110_uc004blb... Hybrid_Cap...
CHD1 p.P1684del 5 98192165 98192167 HCT15_LARGE_INT... 37 In_Frame_Del Del AGG - rs79267787;rs61749618 uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap...
CHD1 p.M1342T 5 98205540 98205540 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc003knf.2 CHD1_uc010jbn.2... Hybrid_Cap... view
CHD1 5 98262117 98262117 HCT15_LARGE_INT... 37 5'UTR SNP A T uc003knf.2 Hybrid_Cap... view
CHD5 p.P1220H 1 6188630 6188630 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001amb.1 CHD5_uc001alz.1... Hybrid_Cap... view
CHD5 p.R540H 1 6206455 6206455 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001amb.1 CHD5_uc001ama.1... Hybrid_Cap... view
CHD8 p.R1721C 14 21861956 21861956 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD8 p.K1112_splice 14 21869561 21869561 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP C T uc001was.1 CHD8_uc001war.1... Hybrid_Cap... view
CHD9 16 53284016 53284016 HCT15_LARGE_INT... 37 Intron SNP T A uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHD9 p.T1400I 16 53289681 53289681 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc002ehb.2 CHD9_uc002egy.2... Hybrid_Cap... view
CHEK1 11 125496652 125496652 HCT15_LARGE_INT... 37 5'UTR SNP C T uc009zbo.2 CHEK1_uc010sbh.... Hybrid_Cap... view
CHEK2 p.A290D 22 29107949 29107949 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CHEK2 p.R188W 22 29121242 29121242 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003adt.1 CHEK2_uc003ads.... Hybrid_Cap... view
CIC p.R340W 19 42793126 42793126 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc002otf.1 Hybrid_Cap... view
CIT p.R1694W 12 120146115 120146115 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.A613T 12 120214212 120214212 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CIT p.P372H 12 120241190 120241190 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001txj.1 CIT_uc001txh.1_... Hybrid_Cap... view
CLK2 p.N80S 1 155239439 155239439 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLK2 p.P437L 1 155233748 155233748 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLK2 p.K466N 1 155233111 155233111 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001fjy.2 RAG1AP1_uc010pe... Hybrid_Cap... view
CLK4 p.G145G 5 178044385 178044385 HCT15_LARGE_INT... 37 Silent SNP A G uc003mjf.1 CLK4_uc003mjg.1... Hybrid_Cap... view
CLPTM1L p.T532M 5 1318506 1318506 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003jch.2 CLPTM1L_uc003jc... Hybrid_Cap... view
CLTC p.T1083A 17 57758825 57758825 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002ixr.1 CLTC_uc002ixp.2... Hybrid_Cap... view
CLTCL1 p.V1201_splice 22 19189003 19189004 HCT15_LARGE_INT... 37 Splice_Site_Ins Ins - C rs11386977 uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap...
CLTCL1 p.R1165S 22 19195771 19195771 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002zpb.2 CLTCL1_uc011agv... Hybrid_Cap... view
CNTN1 12 41302213 41302213 HCT15_LARGE_INT... 37 5'UTR SNP C G uc001rmm.1 CNTN1_uc009zjy.... Hybrid_Cap... view
CNTN1 p.L610M 12 41374734 41374734 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001rmm.1 CNTN1_uc001rmn.... Hybrid_Cap... view
CNTN6 3 1339681 1339686 HCT15_LARGE_INT... 37 Intron Del GTTTT... - uc003boz.2 CNTN6_uc010hbo.... Hybrid_Cap...
CNTN6 3 1445212 1445212 HCT15_LARGE_INT... 37 3'UTR Del A - rs74788015 uc003boz.2 CNTN6_uc011asj.... Hybrid_Cap...
COL14A1 p.G966C 8 121275133 121275133 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc003yox.2 COL14A1_uc003yo... Hybrid_Cap... view
COL18A1 p.P1153H 21 46912626 46912626 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc011afs.1 COL18A1_uc002zh... Hybrid_Cap... view
COL3A1 p.G267_splice 2 189855729 189855729 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP G T uc002uqj.1 COL3A1_uc010frw... Hybrid_Cap... view
COL3A1 p.G552E 2 189860897 189860897 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002uqj.1 Hybrid_Cap... view
CPAMD8 p.F343S 19 17108129 17108129 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002nfb.2 Hybrid_Cap... view
CPAMD8 p.V1228I 19 17036012 17036012 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc002nfb.2 Hybrid_Cap... view
CPAMD8 p.H1313N 19 17025299 17025299 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002nfb.2 Hybrid_Cap... view
CREBBP p.D1521_splice 16 3786205 3786205 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP C A uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CREBBP p.P1150H 16 3807970 3807970 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002cvv.2 CREBBP_uc002cvw... Hybrid_Cap... view
CRTC1 p.G540A 19 18886509 18886509 HCT15_LARGE_INT... 37 Missense_Mutation SNP G C uc010ebv.2 CRTC1_uc002nkb.... Hybrid_Cap... view
CSF3R p.E553K 1 36933742 36933742 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001cax.1 CSF3R_uc001cat.... Hybrid_Cap... view
CSK p.Q26* 15 75091016 75091016 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C T uc010bkb.1 CSK_uc010bka.2_... Hybrid_Cap... view
CSMD3 p.A3693V 8 113237046 113237046 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.K3381N 8 113259328 113259328 HCT15_LARGE_INT... 37 Missense_Mutation SNP T G uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.T2957N 8 113303843 113303843 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.G2879D 8 113304918 113304918 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSMD3 p.R1316H 8 113585825 113585825 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003ynu.2 CSMD3_uc003yns.... Hybrid_Cap... view
CSNK1D p.A36V 17 80223642 80223642 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002kef.2 CSNK1D_uc002kei... Hybrid_Cap... view
CSNK1E p.G209C 22 38696011 38696011 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003avj.2 CSNK1E_uc003avk... Hybrid_Cap... view
CSNK1G2 p.E370D 19 1979933 1979933 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002lul.3 CSNK1G2_uc010ds... Hybrid_Cap... view
CSPG4 p.L458P 15 75982033 75982033 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002baw.2 Hybrid_Cap... view
CTBP2 p.K974fs 10 126678123 126678123 HCT15_LARGE_INT... 37 Frame_Shift_Del Del T - uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap...
CTBP2 p.P259S 10 126715554 126715554 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTBP2 p.G247W 10 126715590 126715590 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001lie.3 CTBP2_uc009yak.... Hybrid_Cap... view
CTLA4 p.F175fs 2 204736166 204736166 HCT15_LARGE_INT... 37 Frame_Shift_Del Del T - uc002vak.1 CTLA4_uc002val.... Hybrid_Cap...
CTNNA2 p.E65D 2 79971605 79971605 HCT15_LARGE_INT... 37 Missense_Mutation SNP G C uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CTNNA2 p.A126V 2 80085217 80085217 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc010ysh.1 CTNNA2_uc010yse... Hybrid_Cap... view
CUBN p.E589_splice 10 17142002 17142002 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP A G uc001ioo.2 Hybrid_Cap... view
CUBN p.C156fs 10 17165610 17165610 HCT15_LARGE_INT... 37 Frame_Shift_Del Del A - uc001ioo.2 Hybrid_Cap...
CYB5R4 p.Q245fs 6 84634230 84634231 HCT15_LARGE_INT... 37 Frame_Shift_Ins Ins - A uc003pkf.2 Hybrid_Cap...
CYFIP1 p.N216K 15 22933639 22933639 HCT15_LARGE_INT... 37 Missense_Mutation SNP T A uc001yus.2 CYFIP1_uc001yut... Hybrid_Cap... view
CYLD p.V55M 16 50783772 50783772 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002egp.1 CYLD_uc002egn.1... Hybrid_Cap... view
CYP1A2 15 75047524 75047524 HCT15_LARGE_INT... 37 3'UTR SNP C T uc002ayr.1 Hybrid_Cap... view
CYP1B1 2 38297654 38297655 HCT15_LARGE_INT... 37 3'UTR Ins - A rs9341258 uc002rqo.2 Hybrid_Cap...
CYP1B1 p.A488S 2 38298035 38298035 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002rqo.2 Hybrid_Cap... view
CYP27B1 12 58158427 58158427 HCT15_LARGE_INT... 37 Intron SNP C T uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
CYP27B1 p.L169M 12 58159164 58159164 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001spz.1 CYP27B1_uc001sq... Hybrid_Cap... view
CYP3A4 7 99355718 99355718 HCT15_LARGE_INT... 37 3'UTR SNP G A uc003urv.1 CYP3A4_uc003urw... Hybrid_Cap... view
DACH1 p.S683N 13 72049308 72049308 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc010thn.1 DACH1_uc010tho.... Hybrid_Cap... view
DAPK1 p.I44V 9 90219936 90219936 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc004apc.2 DAPK1_uc004ape.... Hybrid_Cap... view
DAXX 6 33289693 33289693 HCT15_LARGE_INT... 37 Intron SNP C T uc011dre.1 DAXX_uc011drd.1... Hybrid_Cap... view
DBN1 p.A637T 5 176884481 176884481 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003mgx.2 DBN1_uc011dga.1... Hybrid_Cap... view
DCLK1 p.L518M 13 36396868 36396868 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001uvf.2 DCLK1_uc001uve.... Hybrid_Cap... view
DDIT3 12 57910465 57910465 HCT15_LARGE_INT... 37 3'UTR SNP C A uc009zps.2 MARS_uc001sof.1... Hybrid_Cap... view
DDR1 p.T775M 6 30865939 30865939 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003nrv.2 DDR1_uc010jse.2... Hybrid_Cap... view
DDR2 p.K763E 1 162748373 162748373 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc001gcf.2 DDR2_uc001gcg.2... Hybrid_Cap... view
DDX10 p.T150M 11 108547882 108547882 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001pkm.2 DDX10_uc001pkl.... Hybrid_Cap... view
DDX6 p.V406A 11 118626170 118626170 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc001pub.2 DDX6_uc001pua.2... Hybrid_Cap... view
DEK p.S169L 6 18256029 18256029 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003ncr.1 DEK_uc011djf.1_... Hybrid_Cap... view
DEK p.G138* 6 18256632 18256632 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C A uc003ncr.1 DEK_uc011djf.1_... Hybrid_Cap... view
DGKB p.E151D 7 14758180 14758180 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003ssz.2 DGKB_uc011jxt.1... Hybrid_Cap... view
DICER1 p.E495K 14 95583985 95583985 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001ydw.2 DICER1_uc001ydv... Hybrid_Cap... view
DLL4 p.V199M 15 41223901 41223901 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001zng.1 Hybrid_Cap... view
DNAH8 p.A2866D 6 38874083 38874083 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003ooe.1 Hybrid_Cap... view
DNAH8 p.F4132V 6 38952075 38952075 HCT15_LARGE_INT... 37 Missense_Mutation SNP T G uc003ooe.1 DNAH8_uc003oog.... Hybrid_Cap... view
DNMT3B p.R440fs 20 31384616 31384617 HCT15_LARGE_INT... 37 Frame_Shift_Ins Ins - G uc002wyc.2 DNMT3B_uc010ztx... Hybrid_Cap...
DOCK3 p.E1256* 3 51376459 51376459 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G T uc011bds.1 Hybrid_Cap... view
DPYD p.P1010H 1 97544581 97544581 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001drv.2 Hybrid_Cap... view
DPYD p.V815E 1 97658803 97658803 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc001drv.2 Hybrid_Cap... view
DST p.G5078C 6 56342229 56342229 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.C1829Y 6 56463359 56463359 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56468775 56468775 HCT15_LARGE_INT... 37 Intron SNP C A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56473227 56473227 HCT15_LARGE_INT... 37 Intron SNP G A uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56474063 56474063 HCT15_LARGE_INT... 37 Intron SNP A C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST 6 56484402 56484402 HCT15_LARGE_INT... 37 Intron SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.W1437* 6 56494113 56494113 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C T uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DST p.Q565R 6 56507287 56507287 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003pdf.2 DST_uc003pcz.3_... Hybrid_Cap... view
DYRK1A 21 38884967 38884967 HCT15_LARGE_INT... 37 3'UTR Del T - uc002ywk.2 DYRK1A_uc002ywi... Hybrid_Cap...
DYRK4 p.E155_splice 12 4702166 4702166 HCT15_LARGE_INT... 37 Splice_Site_SNP SNP A G uc009zeh.1 DYRK4_uc001qmx.... Hybrid_Cap... view
ECM1 p.E260* 1 150483657 150483657 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G T uc001euu.2 ECM1_uc010pce.1... Hybrid_Cap... view
EDNRA 4 148406809 148406809 HCT15_LARGE_INT... 37 5'UTR SNP G T uc003iky.2 EDNRA_uc011cid.... Hybrid_Cap... view
EGF p.L1197M 4 110932576 110932576 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003hzy.3 EGF_uc011cfu.1_... Hybrid_Cap... view
EHBP1 p.C31R 2 62934417 62934417 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EHBP1 p.G620R 2 63175734 63175734 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002sby.2 EHBP1_uc010fcp.... Hybrid_Cap... view
EIF3H p.K354N 8 117657284 117657284 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003yob.2 EIF3H_uc003yoa.... Hybrid_Cap... view
EIF4A1 p.E183D 17 7480408 7480408 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc002gho.1 EIF4A1_uc002ghr... Hybrid_Cap... view
EIF4B p.G428E 12 53428470 53428470 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc010snu.1 EIF4B_uc001sbh.... Hybrid_Cap... view
EIF4E p.A74V 4 99812388 99812388 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc011ceb.1 EIF4E_uc011cea.... Hybrid_Cap... view
EIF4G1 p.Q37* 3 184033968 184033968 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C T uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EIF4G1 p.Y965C 3 184043073 184043073 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc010hxx.2 EIF4G1_uc003fno... Hybrid_Cap... view
EML4 p.G233S 2 42508019 42508019 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002rsi.2 EML4_uc010fap.2... Hybrid_Cap... view
EP300 p.E1014* 22 41548252 41548252 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G T uc003azl.3 Hybrid_Cap... view
EP300 22 41574970 41574972 HCT15_LARGE_INT... 37 3'UTR Del GTA - rs76489032 uc003azl.3 Hybrid_Cap...
EPHA1 p.K764N 7 143091961 143091961 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003wcz.2 Hybrid_Cap... view
EPHA1 p.E505A 7 143095114 143095114 HCT15_LARGE_INT... 37 Missense_Mutation SNP T G uc003wcz.2 Hybrid_Cap... view
EPHA10 p.A118T 1 38227575 38227575 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc009vvi.2 EPHA10_uc001cbw... Hybrid_Cap... view
EPHA2 p.Q715* 1 16458741 16458741 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G A uc001aya.1 Hybrid_Cap... view
EPHA2 p.Y87C 1 16475436 16475436 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc001aya.1 EPHA2_uc010oca.... Hybrid_Cap... view
EPHA4 2 222290624 222290624 HCT15_LARGE_INT... 37 3'UTR Del T - uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap...
EPHA4 p.G592C 2 222310843 222310843 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002vmq.2 EPHA4_uc002vmr.... Hybrid_Cap... view
EPHA5 p.A997V 4 66197712 66197712 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA5 p.G549V 4 66280043 66280043 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc011cah.1 EPHA5_uc003hcx.... Hybrid_Cap... view
EPHA6 3 96963190 96963190 HCT15_LARGE_INT... 37 Intron SNP T C uc010how.1 EPHA6_uc003drp.... Hybrid_Cap... view
EPHA6 p.L904L 3 97356854 97356854 HCT15_LARGE_INT... 37 Silent SNP A G uc010how.1 EPHA6_uc011bgp.... Hybrid_Cap... view
EPHA6 3 97367230 97367231 HCT15_LARGE_INT... 37 Intron Ins - A rs115253553 uc010how.1 EPHA6_uc003drs.... Hybrid_Cap...
EPHA8 p.E714A 1 22924668 22924668 HCT15_LARGE_INT... 37 Missense_Mutation SNP A C uc001bfx.1 Hybrid_Cap... view
EPHB2 p.R712Q 1 23233449 23233449 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc009vqj.1 EPHB2_uc001bge.... Hybrid_Cap... view
EPS15 p.L429P 1 51873994 51873994 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc001csq.1 EPS15_uc009vyz.... Hybrid_Cap... view
ERBB3 p.N126K 12 56478922 56478922 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB3 p.R667H 12 56489535 56489535 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB3 p.P1142H 12 56495068 56495068 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001sjh.2 ERBB3_uc009zoj.... Hybrid_Cap... view
ERBB4 p.L369I 2 212576794 212576794 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002veg.1 ERBB4_uc002veh.... Hybrid_Cap... view
ERC1 p.K927E 12 1399177 1399177 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc001qjb.2 ERC1_uc001qiz.2... Hybrid_Cap... view
ERCC2 p.R497S 19 45858977 45858977 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc002pbj.2 ERCC2_uc002pbh.... Hybrid_Cap... view
ERCC4 p.K820E 16 14041911 14041911 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002dce.2 ERCC4_uc010uyz.... Hybrid_Cap... view
ERCC5 p.P1336H 13 103520574 103520574 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc001vpu.1 ERCC5_uc001vpw.... Hybrid_Cap... view
ERCC6 p.R857* 10 50682102 50682102 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G A uc001jhs.3 ERCC6_uc009xod.... Hybrid_Cap... view
ERN2 p.V842A 16 23702742 23702742 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc002dma.3 ERN2_uc010bxp.2... Hybrid_Cap... view
ESR2 14 64749740 64749740 HCT15_LARGE_INT... 37 5'UTR SNP A C uc001xha.1 ESR2_uc001xgu.2... Hybrid_Cap... view
ETV1 p.S244N 7 13971198 13971198 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap... view
ETV1 7 14028708 14028708 HCT15_LARGE_INT... 37 5'UTR Del A - rs77190713 uc011jxq.1 ETV1_uc011jxn.1... Hybrid_Cap...
ETV5 p.P373S 3 185775260 185775260 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003fpy.2 ETV5_uc003fpz.2... Hybrid_Cap... view
EWSR1 p.Y214C 22 29682953 29682953 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc003aev.2 EWSR1_uc003aes.... Hybrid_Cap... view
EXT1 p.A219S 8 119122631 119122631 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003yok.1 Hybrid_Cap... view
F8 p.G266E X 154197818 154197818 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc004fmt.2 Hybrid_Cap... view
FAM123B p.E582* X 63411423 63411423 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP C A uc004dvo.2 Hybrid_Cap... view
FANCD2 p.R1273Q 3 10133905 10133905 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003buw.2 FANCD2_uc003bux... Hybrid_Cap... view
FANCE 6 35434276 35434276 HCT15_LARGE_INT... 37 3'UTR SNP G T uc003oko.1 FANCE_uc010jvw.... Hybrid_Cap... view
FANCI p.L934M 15 89843194 89843194 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FANCI 15 89859782 89859782 HCT15_LARGE_INT... 37 3'UTR SNP T A rs3176247 uc010bnp.1 FANCI_uc002bnm.... Hybrid_Cap... view
FANCM p.C110R 14 45605562 45605562 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc001wwd.3 FANCM_uc001wwc.... Hybrid_Cap... view
FANCM p.Q1757H 14 45658496 45658496 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc001wwd.3 FANCM_uc010anf.... Hybrid_Cap... view
FASN p.A727S 17 80046970 80046970 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc002kdu.2 FASN_uc002kdw.1... Hybrid_Cap... view
FBN1 p.E2857K 15 48703234 48703234 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc001zwx.1 FBN1_uc010beo.1... Hybrid_Cap... view
FBN1 p.Y962N 15 48782246 48782246 HCT15_LARGE_INT... 37 Missense_Mutation SNP A T uc001zwx.1 Hybrid_Cap... view
FBN1 p.A25V 15 48936893 48936893 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc001zwx.1 Hybrid_Cap... view
FBN2 p.D1734Y 5 127645675 127645675 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003kuu.2 Hybrid_Cap... view
FBN2 p.G583V 5 127713546 127713546 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003kuu.2 FBN2_uc003kuv.2... Hybrid_Cap... view
FCGR2B p.N308S 1 161647333 161647333 HCT15_LARGE_INT... 37 Missense_Mutation SNP A G uc001gaz.1 FCGR2B_uc001gay... Hybrid_Cap... view
FER p.I240T 5 108207119 108207119 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc003kop.1 FER_uc011cve.1_... Hybrid_Cap... view
FFAR2 p.A54T 19 35940776 35940776 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc002nzg.2 FFAR2_uc010eea.... Hybrid_Cap... view
FGFR1 p.A268S 8 38282161 38282161 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc003xlp.2 FGFR1_uc011lbo.... Hybrid_Cap... view
FGFR2 10 123239228 123239228 HCT15_LARGE_INT... 37 3'UTR SNP T C uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap... view
FGFR2 10 123276801 123276801 HCT15_LARGE_INT... 37 Intron Del A - uc010qtj.1 FGFR2_uc010qtg.... Hybrid_Cap...
FGFR3 p.A792A 4 1808938 1808938 HCT15_LARGE_INT... 37 Silent SNP C A uc003gdu.2 FGFR3_uc003gdr.... Hybrid_Cap... view
FGFR4 p.E194E 5 176518084 176518084 HCT15_LARGE_INT... 37 Silent SNP G A uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FGFR4 5 176520345 176520345 HCT15_LARGE_INT... 37 Intron SNP T A uc003mfl.2 FGFR4_uc003mfm.... Hybrid_Cap... view
FLI1 11 128638217 128638217 HCT15_LARGE_INT... 37 Intron Del G - uc010sbu.1 FLI1_uc010sbt.1... Hybrid_Cap...
FLNB p.N2290K 3 58141691 58141691 HCT15_LARGE_INT... 37 Missense_Mutation SNP C A uc010hne.2 FLNB_uc003djj.2... Hybrid_Cap... view
FLNC p.A1887T 7 128491405 128491405 HCT15_LARGE_INT... 37 Missense_Mutation SNP G A uc003vnz.3 FLNC_uc003voa.3... Hybrid_Cap... view
FLT4 p.Q367Q 5 180055884 180055884 HCT15_LARGE_INT... 37 Silent SNP C T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FLT4 p.S173R 5 180057100 180057100 HCT15_LARGE_INT... 37 Missense_Mutation SNP G T uc003mlz.3 FLT4_uc003mma.3... Hybrid_Cap... view
FMN2 p.PPLPGAGIPPP939del 1 240370914 240370946 HCT15_LARGE_INT... 37 In_Frame_Del Del GCCCC... - rs4997328;rs4997329 uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap...
FMN2 p.E1292* 1 240371974 240371974 HCT15_LARGE_INT... 37 Nonsense_Mutation SNP G T uc010pye.1 FMN2_uc010pyd.1... Hybrid_Cap... view
FN1 2 216244182 216244185 HCT15_LARGE_INT... 37 Intron Del GTAC - uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap...
FN1 p.S1580N 2 216248898 216248898 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc002vfa.2 FN1_uc002vfb.2_... Hybrid_Cap... view
FNBP1 9 132658079 132658079 HCT15_LARGE_INT... 37 Intron Del T - uc004byw.1 FNBP1_uc011mbv.... Hybrid_Cap...
FOXE1 p.Y58H 9 100616368 100616368 HCT15_LARGE_INT... 37 Missense_Mutation SNP T C uc004axu.2 Hybrid_Cap... view
FOXP1 3 71008342 71008344 HCT15_LARGE_INT... 37 3'UTR Del TTT - rs114233617 uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...
FOXP1 p.C341Y 3 71050163 71050163 HCT15_LARGE_INT... 37 Missense_Mutation SNP C T uc003dol.2 FOXP1_uc003dom.... Hybrid_Cap...