ABCC9 10060 broad.mit.edu 37 12 21951365 21951366 + 3'-UTR INS - T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr12:21951365_21951366insT uc001rfh.2 - ABCC9_uc001rfg.2_3'-UTR NM_020297 NP_064693 ATP-binding cassette, sub-family C, member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4) 4 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) --- --- --- --- --- ---
ABI3 51225 broad.mit.edu 37 17 47300224 47300225 + 3'-UTR INS - GGAG GGAG NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr17:47300224_47300225insGGAG uc002iop.1 + ABI3_uc002ioq.1_3'-UTR NM_016428 NP_057512 NESH protein isoform 1 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding 0 --- --- --- --- --- ---
ACTR10 55860 broad.mit.edu 37 14 58666980 58666980 + Frame_Shift_Del DEL G - - NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr14:58666980_58666980delG uc001xdf.2 + c.148_148delG c.(146-148)GCGfs p.A15fs C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_5'-UTR|ACTR10_uc001xdh.2_5'-UTR NM_018477 NP_060947 Q9NZ32 ARP10_HUMAN uncharacterized hypothalamus protein HARP11 15 cytoplasm central_nervous_system(1) 1 --- --- --- --- --- ---
ADAM11 4185 broad.mit.edu 37 17 42857430 42857430 + Missense SNP G A A rs35504352 by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr17:42857430G>A uc002ihi.2 + c.847G>A c.(847-849)GCC>ACC p.A226T ADAM11_uc002ihh.2_3'-UTR|ADAM11_uc010wjd.1_3'-UTR O75078 ADA11_HUMAN Homo sapiens mRNA for MDC/ADAM11, complete cds. 587 Cys-rich.|Extracellular (Potential). integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding pancreas(1) 1 Prostate(33;0.0959) --- --- --- --- --- ---
AK2 204 broad.mit.edu 37 1 33476292 33476292 + 3'-UTR SNP A G G rs74066439 by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr1:33476292A>G uc001bwo.1 - AK2_uc010ohq.1_3'-UTR|AK2_uc009vud.1_3'-UTR NM_013411 NP_037543 adenylate kinase 2 isoform b nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) --- --- --- --- --- ---
ALG10B 144245 broad.mit.edu 37 12 38722483 38722484 + 3'-UTR INS - A A rs77522662 NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr12:38722483_38722484insA uc001rln.3 + ALG10B_uc001rlo.3_3'-UTR|ALG10B_uc010skk.1_3'-UTR NM_001013620 NP_001013642 asparagine-linked glycosylation 10 homolog B dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2) 2 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) --- --- --- --- --- ---
ANKS3 124401 broad.mit.edu 37 16 4746829 4746829 + 3'-UTR SNP A G G rs841216 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr16:4746829A>G uc002cxj.1 - ANKS3_uc010uxr.1_3'-UTR|ANKS3_uc002cxh.1_Non-coding_Transcript|ANKS3_uc002cxi.1_3'-UTR|ANKS3_uc002cxk.2_3'-UTR|ANKS3_uc002cxl.2_3'-UTR|ANKS3_uc010uxs.1_3'-UTR NM_133450 NP_597707 ankyrin repeat and sterile alpha motif domain 0 --- --- --- --- --- ---
ARHGEF9 23229 broad.mit.edu 37 X 62855792 62855792 + 3'-UTR SNP G T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chrX:62855792G>T uc004dvl.2 - ARHGEF9_uc004dvj.1_3'-UTR|ARHGEF9_uc004dvk.1_3'-UTR|ARHGEF9_uc011mos.1_3'-UTR|ARHGEF9_uc004dvm.1_3'-UTR|ARHGEF9_uc011mot.1_3'-UTR NM_015185 NP_056000 Cdc42 guanine exchange factor 9 apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 --- --- --- --- --- ---
ARL6IP6 151188 broad.mit.edu 37 2 153617013 153617013 + 3'-UTR SNP C A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr2:153617013C>A uc002tyn.2 + ARL6IP6_uc002tym.2_Non-coding_Transcript|ARL6IP6_uc002tyo.2_3'-UTR NM_152522 NP_689735 ADP-ribosylation-like factor 6 interacting integral to membrane 0 --- --- --- --- --- ---
ATHL1 80162 broad.mit.edu 37 11 295480 295480 + 3'-UTR SNP C G G NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr11:295480C>G uc010qvu.1 + ATHL1_uc001lor.3_3'-UTR|ATHL1_uc001lou.3_3'-UTR|ATHL1_uc001lov.3_3'-UTR NM_025092 NP_079368 ATH1, acid trehalase-like 1 carbohydrate metabolic process hydrolase activity, acting on glycosyl bonds liver(1)|central_nervous_system(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) --- --- --- --- --- ---
B3GNT7 93010 broad.mit.edu 37 2 232263127 232263127 + Missense SNP G A A rs2290130 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr2:232263127G>A uc002vrs.2 + c.877G>A c.(877-879)GTC>ATC p.V233I NM_145236 NP_660279 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal 233 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity 0 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) --- --- --- --- --- ---
BAHD1 22893 broad.mit.edu 37 15 40751555 40751555 + Missense SNP C A A rs3803357 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr15:40751555C>A uc001zlu.2 + c.963C>A c.(963-965)CAG>AAG p.Q298K BAHD1_uc001zlt.2_Missense_p.Q298K|BAHD1_uc010bbp.1_Missense_p.Q298K|BAHD1_uc001zlv.2_Missense_p.Q298K NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 298 Pro-rich. heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) --- --- --- --- --- ---
BMS1 9790 broad.mit.edu 37 10 43329971 43329971 + 3'-UTR SNP C T T rs76137580 by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr10:43329971C>T uc001jaj.2 + NM_014753 NP_055568 BMS1-like, ribosome assembly protein ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2) 2 --- --- --- --- --- ---
C5orf45 51149 broad.mit.edu 37 5 179264915 179264915 + Intron SNP G T T rs1065154 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr5:179264915G>T uc003mla.2 - SQSTM1_uc011dgr.1_3'-UTR|SQSTM1_uc011dgs.1_3'-UTR|SQSTM1_uc003mkw.3_3'-UTR|SQSTM1_uc003mkx.2_3'-UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Intron|C5orf45_uc003mlb.2_Intron NM_016175 NP_057259 hypothetical protein LOC51149 isoform 1 0 --- --- --- --- --- ---
C8orf38 137682 broad.mit.edu 37 8 96084971 96084972 + Intron INS - GTG GTG NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr8:96084971_96084972insGTG uc011lgs.1 + Homo sapiens cDNA FLJ57417 complete cds. biosynthetic process mitochondrion transferase activity 0 Breast(36;3.32e-06) --- --- --- --- --- ---
CAMKV 79012 broad.mit.edu 37 3 49898273 49898273 + Synonymous SNP A G G rs2681781 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr3:49898273A>G uc003cxt.1 - c.844T>C c.(842-844)AAT>AAC p.N217N CAMKV_uc011bcy.1_Synonymous_p.N142N|CAMKV_uc003cxv.1_Synonymous_p.N189N|CAMKV_uc003cxw.1_Synonymous_p.N49N|CAMKV_uc003cxx.1_Synonymous_p.N49N|CAMKV_uc003cxu.2_Synonymous_p.N217N|CAMKV_uc011bcz.1_Synonymous_p.N180N|CAMKV_uc011bda.1_Synonymous_p.N174N|CAMKV_uc011bdb.1_Non-coding_Transcript NM_024046 NP_076951 Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 217 Protein kinase. protein phosphorylation cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1) 7 --- --- --- --- --- ---
CDC25A 993 broad.mit.edu 37 3 48199100 48199100 + 3'-UTR SNP G A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr3:48199100G>A uc003csh.1 - CDC25A_uc003csi.1_3'-UTR NM_001789 NP_001780 cell division cycle 25A isoform a cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|protein dephosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(2)|kidney(1)|skin(1) 4 --- --- --- --- --- ---
CHST11 50515 broad.mit.edu 37 12 105151184 105151184 + Missense SNP G A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr12:105151184G>A uc001tkx.1 + c.953G>A c.(952-954)CGG>CAG p.R221Q CHST11_uc001tky.2_Missense_p.R216Q NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 221 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 --- --- --- --- --- ---
FAM22A 728118 broad.mit.edu 37 10 88994227 88994227 + Missense SNP T C C NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr10:88994227T>C uc001kek.2 + c.2782T>C c.(2781-2783)TTC>TCC p.F800S LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron NM_001099338 NP_001092808 Q8IVF1 FA22A_HUMAN hypothetical protein LOC728118 800 0 --- --- --- --- --- ---
GRM6 2916 broad.mit.edu 37 5 178407920 178407920 + 3'-UTR SNP C T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr5:178407920C>T uc003mjr.2 - GRM6_uc003mjq.2_3'-UTR NM_000843 NP_000834 glutamate receptor, metabotropic 6 precursor detection of visible light|metabotropic glutamate receptor signaling pathway|visual perception integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity ovary(2)|breast(1)|pancreas(1) 4 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) --- --- --- --- --- ---
HAUS6 54801 broad.mit.edu 37 9 19054795 19054795 + 3'-UTR SNP A C C NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr9:19054795A>C uc003znk.2 - HAUS6_uc011lmz.1_3'-UTR NM_017645 NP_060115 HAUS augmin-like complex, subunit 6 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 --- --- --- --- --- ---
HERC1 8925 broad.mit.edu 37 15 64041578 64041578 + Frame_Shift_Del DEL A - - NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr15:64041578_64041578delA uc002amp.2 - c.2355_2355delT c.(2354-2356)CTTfs p.L736fs HERC1_uc010uil.1_Intron NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 736 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(5)|central_nervous_system(2)|lung(1)|breast(1) 9 --- --- --- --- --- ---
ITGA6 3655 broad.mit.edu 37 2 173370546 173370546 + 3'-UTR SNP G T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr2:173370546G>T uc002uhp.1 + ITGA6_uc010zdy.1_3'-UTR|ITGA6_uc002uho.1_3'-UTR|ITGA6_uc010fqm.1_3'-UTR NM_001079818 NP_001073286 integrin alpha chain, alpha 6 isoform a blood coagulation|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis receptor activity ovary(1)|lung(1) 2 --- --- --- --- --- ---
KITLG 4254 broad.mit.edu 37 12 88889529 88889529 + 3'-UTR SNP G T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr12:88889529G>T uc001tav.2 - KITLG_uc009zsn.2_3'-UTR|KITLG_uc001taw.2_3'-UTR NM_000899 NP_000890 KIT ligand isoform b precursor cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding ovary(1) 1 --- --- --- --- --- ---
LIN54 132660 broad.mit.edu 37 4 83846858 83846859 + 3'-UTR INS - A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr4:83846858_83846859insA uc003hnx.3 - LIN54_uc003hnz.3_3'-UTR|LIN54_uc003hny.3_3'-UTR|LIN54_uc010ijt.2_3'-UTR|LIN54_uc010iju.2_3'-UTR|LIN54_uc010ijv.2_3'-UTR NM_194282 NP_919258 lin-54 homolog isoform a cell cycle|regulation of transcription|transcription nucleus DNA binding 0 Hepatocellular(203;0.114) --- --- --- --- --- ---
MYCN 4613 broad.mit.edu 37 2 16082317 16082317 + Missense SNP C T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr2:16082317C>T uc002rci.2 + c.431C>T c.(430-432)CCC>CTC p.P44L MYCNOS_uc002rch.1_5'-Flank|MYCN_uc010yjr.1_Missense_p.P36L NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 44 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity p.P44L(1) central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) --- --- --- --- --- ---
OBFC1 79991 broad.mit.edu 37 10 105641874 105641874 + 3'-UTR SNP G T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr10:105641874G>T uc001kxl.2 - OBFC1_uc001kxm.2_3'-UTR|OBFC1_uc001kxn.2_Non-coding_Transcript NM_024928 NP_079204 oligonucleotide/oligosaccharide-binding fold telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) --- --- --- --- --- ---
PDE6C 5146 broad.mit.edu 37 10 95418852 95418852 + Intron SNP C A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr10:95418852C>A uc001kiu.3 + NM_006204 NP_006195 phosphodiesterase 6C visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1) 3 Colorectal(252;0.123) --- --- --- --- --- ---
PDK4 5166 broad.mit.edu 37 7 95213839 95213839 + 3'-UTR SNP G C C NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr7:95213839G>C uc003uoa.2 - PDK4_uc003unz.2_3'-UTR NM_002612 NP_002603 pyruvate dehydrogenase kinase 4 precursor glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) --- --- --- --- --- ---
PLXND1 23129 broad.mit.edu 37 3 129274836 129274836 + 3'-UTR SNP G A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr3:129274836G>A uc003emx.2 - PLXND1_uc003emw.2_3'-UTR|PLXND1_uc011blb.1_3'-UTR NM_015103 NP_055918 plexin D1 precursor axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 --- --- --- Ovarian(97;366 1484 3738 22084 39045) --- ---
RASSF9 9182 broad.mit.edu 37 12 86230265 86230266 + 5'-UTR INS - A A rs114635500 by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr12:86230265_86230266insA uc001taf.1 - NM_005447 NP_005438 Ras association (RalGDS/AF-6) domain family endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity 0 --- --- --- --- --- ---
RBMXL1 494115 broad.mit.edu 37 1 89449298 89449298 + Missense SNP C G G rs111779380 NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr1:89449298C>G uc009wcx.2 - c.928G>C c.(927-929)GGA>GCA p.G71A CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_p.G71A NM_001162536 NP_001156008 Q96E39 Q96E39_HUMAN RNA binding motif protein, X-linked-like 1 71 lyase activity|nucleic acid binding|nucleotide binding 0 --- --- --- --- OREG0013593(1) type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)(1)
RGS17 26575 broad.mit.edu 37 6 153347636 153347636 + Synonymous SNP T C C NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr6:153347636T>C uc003qpm.2 - c.318A>G c.(316-318)AGA>AGG p.R54R NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 54 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) --- --- --- Esophageal Squamous(78;500 1236 6775 24364 49058) --- ---
RXRB 6257 broad.mit.edu 37 6 33161661 33161661 + 3'-UTR SNP A G G rs1050673 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr6:33161661A>G uc003odc.2 - RXRB_uc003odb.2_3'-UTR|RXRB_uc003odd.2_3'-UTR|RXRB_uc011dqr.1_3'-UTR NM_021976 NP_068811 retinoid X receptor, beta regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|protein binding|retinoid-X receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) --- --- --- --- --- ---
RYBP 23429 broad.mit.edu 37 3 72423968 72423968 + 3'-UTR SNP C A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr3:72423968C>A uc003dpe.2 - NM_012234 NP_036366 RING1 and YY1 binding protein apoptosis|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|transcription corepressor activity|zinc ion binding 0 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) --- --- --- --- --- ---
SGSH 6448 broad.mit.edu 37 17 78184393 78184393 + Missense SNP C T T rs7503034 byFrequency;by1000genomes NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr17:78184393C>T uc002jxz.3 - c.1454G>A c.(1453-1455)CGC>CAC p.R456H SGSH_uc002jya.3_Missense_p.R253H|SGSH_uc002jxy.2_3'-UTR NM_000199 NP_000190 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase precursor 456 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity ovary(1)|central_nervous_system(1) 2 all_neural(118;0.0952) --- --- --- --- --- ---
SGSM1 129049 broad.mit.edu 37 22 25320443 25320443 + 3'-UTR SNP C T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr22:25320443C>T uc003abg.2 + SGSM1_uc003abh.2_3'-UTR|SGSM1_uc010guu.1_3'-UTR|SGSM1_uc003abj.2_3'-UTR|SGSM1_uc003abi.1_3'-UTR NM_001039948 NP_001035037 RUN and TBC1 domain containing 2 isoform 1 regulation of Rab GTPase activity Golgi apparatus Rab GTPase activator activity central_nervous_system(2)|pancreas(1) 3 --- --- --- --- --- ---
TMOD3 29766 broad.mit.edu 37 15 52194091 52194092 + Frame_Shift_Ins INS - A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr15:52194091_52194092insA uc002abm.2 + c.1101_1102insA c.(1099-1104)AGGCAGfs p.R294fs TMOD3_uc010bfc.1_Non-coding_Transcript NM_014547 NP_055362 Q9NYL9 TMOD3_HUMAN tropomodulin 3 (ubiquitous) 294_295 cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(1) 1 --- --- --- Colon(122;1837 2251 18387 22826) --- ---
TNNI3K 51086 broad.mit.edu 37 1 74671682 74671683 + Intron INS - A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr1:74671682_74671683insA uc001dge.1 + TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|FPGT_uc010oqt.1_3'-UTR|FPGT_uc010oqu.1_3'-UTR|FPGT_uc001dgb.1_3'-UTR|FPGT_uc010oqv.1_Intron NM_001112808 NP_001106279 TNNI3 interacting kinase isoform a protein phosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 --- --- --- --- --- ---
TTN 7273 broad.mit.edu 37 2 179462773 179462773 + Nonsense SNP C A A NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr2:179462773C>A uc010zfg.1 - c.49644G>T c.(49644-49646)GAA>TAA p.E16474* TTN_uc010zfh.1_Nonsense_p.E10169*|TTN_uc010zfi.1_Nonsense_p.E10102*|TTN_uc010zfj.1_Nonsense_p.E9977* NM_133378 NP_596869 Q4ZG20 Q4ZG20_HUMAN titin isoform N2-A 925 ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 --- --- --- --- --- ---
VEGFA 7422 broad.mit.edu 37 6 43752439 43752439 + 3'-UTR SNP G T T NBL4_common NBL4G_common Phase_I Unspecified Illumina GAIIx g.chr6:43752439G>T uc003owh.2 + VEGFA_uc003owd.2_3'-UTR|VEGFA_uc003owf.2_3'-UTR|VEGFA_uc003owe.2_3'-UTR|VEGFA_uc003owg.2_3'-UTR|VEGFA_uc003owi.2_3'-UTR|VEGFA_uc003owj.2_3'-UTR|VEGFA_uc010jyx.2_3'-UTR|VEGFA_uc003owk.2_Non-coding_Transcript NM_001025366 NP_001020537 vascular endothelial growth factor A isoform a basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis cell surface|extracellular space|membrane|platelet alpha granule lumen cell surface binding|chemoattractant activity|cytokine activity|extracellular matrix binding|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding ovary(1) 1 all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309) Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641) --- --- --- --- --- ---