A2M 2 broad.mit.edu 37 12 9246712 9246712 + Intron SNP G A A NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr12:9246712G>A uc001qvk.1 - A2M_uc009zgk.1_Intron NM_000014 NP_000005 alpha-2-macroglobulin precursor blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4) 4 Bacitracin(DB00626)|Becaplermin(DB00102) --- --- --- --- --- ---
ADD2 119 broad.mit.edu 37 2 70922633 70922633 + Intron SNP A G G NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr2:70922633A>G uc002sgz.2 - ADD2_uc010fds.1_Intron|ADD2_uc002sgy.2_Intron|ADD2_uc002sha.2_Intron|ADD2_uc002sgx.2_Intron|ADD2_uc010fdt.1_Intron|ADD2_uc002shc.1_Intron|ADD2_uc002shd.1_Intron|ADD2_uc010fdu.1_Intron NM_001617 NP_001608 adducin 2 isoform a actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 --- --- --- --- --- ---
BRD4 23476 broad.mit.edu 37 19 15381962 15381962 + Intron SNP G T T NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr19:15381962G>T uc002nar.2 - BRD4_uc002nas.2_Intron|BRD4_uc002nat.3_Intron|BRD4_uc002nau.3_Intron NM_058243 NP_490597 bromodomain-containing protein 4 isoform long interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding ovary(2) 2 --- --- --- --- --- ---
CD36 948 broad.mit.edu 37 7 80117884 80117884 + Intron SNP G A A NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr7:80117884G>A uc003uhc.2 + GNAT3_uc011kgu.1_Synonymous_p.T90T NM_001127444 NP_001120916 CD36 antigen cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 --- --- --- --- --- ---
GNAI1 2770 broad.mit.edu 37 7 79793756 79793756 + Intron SNP G A A NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr7:79793756G>A uc003uhb.1 + GNAI1_uc011kgt.1_Intron NM_002069 NP_002060 guanine nucleotide binding protein (G protein), inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission heterotrimeric G-protein complex GTP binding|protein binding|signal transducer activity central_nervous_system(1) 1 --- --- --- --- --- ---
ITPR2 3709 broad.mit.edu 37 12 26491688 26491688 + 3'-UTR SNP C A A NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr12:26491688C>A uc001rhg.2 - NM_002223 NP_002214 inositol 1,4,5-triphosphate receptor, type 2 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|upper_aerodigestive_tract(1)|lung(1)|skin(1) 13 Colorectal(261;0.0847) --- --- --- --- --- ---
KRT10 3858 broad.mit.edu 37 17 38978671 38978671 + Missense SNP G T T NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr17:38978671G>T uc002hvi.2 - c.193C>A c.(192-194)TCT>TAT p.S56Y KRT10_uc010cxd.2_5'-Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 56 Head.|Gly-rich. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) --- --- --- --- --- ---
LIG3 3980 broad.mit.edu 37 17 33306310 33306310 + 5'-Flank SNP G T T NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr17:33306310G>T uc002hik.1 + LIG3_uc002hii.2_5'-Flank|LIG3_uc002hij.2_5'-Flank|LIG3_uc010cth.1_5'-Flank NM_013975 NP_039269 ligase III, DNA, ATP-dependent isoform alpha base-excision repair|cell division|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding ovary(2)|large_intestine(1)|pancreas(1) 4 Ovarian(249;0.17) Bleomycin(DB00290) --- --- --- --- --- ---
MEGF6 1953 broad.mit.edu 37 1 3421897 3421897 + Missense SNP A G G rs2821008 by1000genomes NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr1:3421897A>G uc001akl.2 - c.2290T>C c.(2289-2291)CTG>CCG p.L688P MEGF6_uc001akk.2_Missense_p.L583P NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 688 extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) --- --- --- Ovarian(73;978 3658) --- ---
MUC20 200958 broad.mit.edu 37 3 195460200 195460200 + 3'-UTR SNP G T T NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr3:195460200G>T uc010hzo.2 + MUC20_uc010hzp.2_3'-UTR NM_152673 NP_689886 mucin 20 isoform L protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane 0 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) --- --- --- --- --- ---
TDG 6996 broad.mit.edu 37 12 104359763 104359763 + 5'-UTR SNP C T T NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr12:104359763C>T uc001tkg.2 + C12orf73_uc001tkf.3_5'-Flank|TDG_uc010swh.1_5'-UTR|TDG_uc009zuk.2_5'-UTR|TDG_uc010swi.1_5'-UTR NM_003211 NP_003202 thymine-DNA glycosylase depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity ovary(2) 2 --- --- --- --- --- ---
TEX261 113419 broad.mit.edu 37 2 71215617 71215617 + 3'-UTR SNP A G G rs4852735 byFrequency;by1000genomes NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr2:71215617A>G uc002shn.2 - TEX261_uc010fdy.2_3'-UTR NM_144582 NP_653183 testis expressed sequence 261 integral to membrane 0 --- --- --- --- --- ---
ZGPAT 84619 broad.mit.edu 37 20 62367377 62367377 + 3'-UTR SNP A G G rs2427535 byFrequency;by1000genomes NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr20:62367377A>G uc002ygk.2 + ZGPAT_uc002ygi.2_3'-UTR|ZGPAT_uc002ygj.2_3'-UTR|ZGPAT_uc010gkk.1_3'-UTR|ZGPAT_uc010gkl.1_3'-UTR|ZGPAT_uc002ygm.2_3'-UTR|ZGPAT_uc002ygn.3_Non-coding_Transcript|LIME1_uc011abi.1_5'-UTR|LIME1_uc002ygp.3_5'-Flank NM_032527 NP_115916 zinc finger, CCCH-type with G patch domain negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) --- --- --- --- --- ---
ZNF547 284306 broad.mit.edu 37 19 58005924 58005924 + Intron SNP G A A NBL3 NBL3G Phase_I Unspecified Illumina GAIIx g.chr19:58005924G>A uc002qpm.3 + ZNF419_uc010ety.1_3'-UTR|ZNF419_uc002qov.2_3'-UTR|ZNF419_uc010etz.1_3'-UTR|ZNF419_uc010eua.1_3'-UTR|ZNF419_uc002qow.2_3'-UTR|ZNF419_uc010eub.1_3'-UTR|ZNF419_uc010euc.1_3'-UTR RecName: Full=Zinc finger protein 547; regulation of transcription, DNA-dependent|transcription nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) --- --- --- --- --- ---