APOOL 139322 broad.mit.edu 37 X 84343192 84343192 + 3'-UTR SNP A G G NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chrX:84343192A>G uc004eem.2 + APOOL_uc010nmp.2_Non-coding_Transcript NM_198450 NP_940852 apolipoprotein O-like precursor extracellular region 0 --- --- --- --- --- ---
CCDC124 115098 broad.mit.edu 37 19 18041870 18041870 + 5'-Flank SNP G T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr19:18041870G>T uc010xpz.1 + NM_001136203 NP_001129675 coiled-coil domain containing 124 nucleus DNA binding 0 --- --- --- --- --- ---
CDH4 1002 broad.mit.edu 37 20 60422882 60422882 + Intron SNP T C C NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr20:60422882T>C uc002ybn.1 + CDH4_uc002ybp.1_Intron NM_001794 NP_001785 cadherin 4, type 1 preproprotein adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2) 5 --- --- --- --- --- ---
CFI 3426 broad.mit.edu 37 4 110687879 110687879 + Synonymous SNP T C C NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr4:110687879T>C uc011cft.1 - c.367A>G c.(365-367)AGA>AGG p.R53R CFI_uc003hzr.3_Synonymous_p.R53R|CFI_uc003hzs.3_Synonymous_p.R53R NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 53 complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) --- --- --- --- --- ---
COMMD9 29099 broad.mit.edu 37 11 36295641 36295641 + 3'-UTR SNP G T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr11:36295641G>T uc001mwn.3 - COMMD9_uc009ykj.2_3'-UTR|COMMD9_uc009yki.1_5'-Flank NM_014186 NP_054905 COMM domain containing 9 isoform 1 ovary(1) 1 all_lung(20;0.211) all_hematologic(20;0.107) --- --- --- --- --- ---
CPNE8 144402 broad.mit.edu 37 12 39053701 39053701 + Intron SNP C A A NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr12:39053701C>A uc001rls.1 - CPNE8_uc001rlr.1_Intron NM_153634 NP_705898 copine VIII 0 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) --- --- --- --- --- ---
CRMP1 1400 broad.mit.edu 37 4 5813439 5813439 + Intron SNP C T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr4:5813439C>T uc003gin.1 - EVC_uc003gil.1_3'-UTR|EVC_uc003gim.1_Non-coding_Transcript SubName: Full=cDNA FLJ37406 fis, clone BRAMY2028282, highly similar to Dihydropyrimidinase-related protein 1; SubName: Full=Collapsin response mediator protein 1, isoform CRA_d; axon guidance|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(1) 1 --- --- --- --- --- ---
CYTH1 9267 broad.mit.edu 37 17 76672002 76672002 + 3'-UTR SNP T C C rs1126607 by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr17:76672002T>C uc002jvw.2 - CYTH1_uc010wtv.1_Non-coding_Transcript NM_017456 NP_059430 cytohesin 1 isoform 2 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 --- --- --- --- --- ---
DIDO1 11083 broad.mit.edu 37 20 61519042 61519042 + Intron SNP T C C rs1056984 byFrequency;by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr20:61519042T>C uc002ydr.1 - DIDO1_uc002yds.1_Intron|DIDO1_uc002ydt.1_3'-UTR|DIDO1_uc002ydu.1_3'-UTR NM_033081 NP_149072 death inducer-obliterator 1 isoform c apoptosis|transcription cytoplasm|nucleus zinc ion binding ovary(3) 3 Breast(26;5.68e-08) --- --- --- Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) --- ---
DNAJC27 51277 broad.mit.edu 37 2 25167584 25167584 + 3'-UTR SNP G C C NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr2:25167584G>C uc002rft.1 - DNAJC27_uc010ykn.1_3'-UTR|DNAJC27_uc002rfu.1_Non-coding_Transcript|DNAJC27_uc010eyg.1_3'-UTR NM_016544 NP_057628 DnaJ (Hsp40) homolog, subfamily C, member 27 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding 0 --- --- --- --- --- ---
GRIPAP1 56850 broad.mit.edu 37 X 48848244 48848244 + Intron SNP C A A NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chrX:48848244C>A uc004dly.1 - GRIPAP1_uc004dlz.2_5'-Flank|GRIPAP1_uc004dma.2_Intron NM_020137 NP_064522 GRIP1 associated protein 1 isoform 1 early endosome breast(2)|kidney(1) 3 --- --- --- --- --- ---
GXYLT1 283464 broad.mit.edu 37 12 42481167 42481167 + 3'-UTR SNP C A A NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr12:42481167C>A uc001rms.3 - GXYLT1_uc001rmt.3_3'-UTR NM_173601 NP_775872 glycosyltransferase 8 domain containing 3 O-glycan processing integral to membrane UDP-xylosyltransferase activity 0 --- --- --- --- --- ---
HLF 3131 broad.mit.edu 37 17 53401087 53401087 + 3'-UTR SNP G T T rs74427487 byFrequency;by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr17:53401087G>T uc002iug.1 + HLF_uc010dce.1_3'-UTR|HLF_uc002iuh.2_3'-UTR|HLF_uc010wni.1_3'-UTR NM_002126 NP_002117 hepatic leukemia factor multicellular organismal development|regulation of transcription, DNA-dependent|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 --- --- --- --- --- ---
LDLRAD3 143458 broad.mit.edu 37 11 36208793 36208793 + Intron SNP G T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr11:36208793G>T uc001mwk.1 + LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron|LDLRAD3_uc010rfa.1_Intron NM_174902 NP_777562 low density lipoprotein receptor class A domain integral to membrane receptor activity central_nervous_system(1) 1 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) --- --- --- --- --- ---
MAST3 23031 broad.mit.edu 37 19 18245512 18245512 + Synonymous SNP C T T rs2270623 byFrequency;by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr19:18245512C>T uc002nhz.3 + c.1608C>T c.(1606-1608)ATC>ATT p.I536I NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 536 Protein kinase. protein phosphorylation ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2) 4 --- --- --- --- --- ---
MPDU1 9526 broad.mit.edu 37 17 7485583 7485583 + 5'-Flank SNP C T T rs62059826 by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr17:7485583C>T uc002ghx.2 + MPDU1_uc010vub.1_5'-Flank|MPDU1_uc002ghw.2_5'-Flank|MPDU1_uc010vuc.1_5'-Flank SubName: Full=cDNA FLJ57743, highly similar to Mannose-P-dolichol utilization defect 1 protein; SubName: Full=Mannose-P-dolichol utilization defect 1, isoform CRA_c; dolichol-linked oligosaccharide biosynthetic process|protein folding endoplasmic reticulum membrane|integral to membrane|mitochondrion protein binding central_nervous_system(1) 1 --- --- --- --- --- ---
NCOA1 8648 broad.mit.edu 37 2 24874592 24874592 + Intron SNP G C C NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr2:24874592G>C uc002rfk.2 + NCOA1_uc010eye.2_Intron|NCOA1_uc002rfi.2_Intron|NCOA1_uc002rfj.2_Intron|NCOA1_uc002rfl.2_Intron NM_003743 NP_003734 nuclear receptor coactivator 1 isoform 1 PAX3/NCOA1(2) soft_tissue(2)|ovary(1)|lung(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) --- --- --- --- --- ---
PDPK1 5170 broad.mit.edu 37 16 2651356 2651356 + 3'-UTR SNP C T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr16:2651356C>T uc002cqs.2 + PDPK1_uc002cqt.2_3'-UTR|PDPK1_uc010bsn.2_3'-UTR|PDPK1_uc002cqu.2_3'-UTR|LOC652276_uc002cqx.2_5'-Flank|LOC652276_uc002cqy.3_5'-Flank NM_002613 NP_002604 3-phosphoinositide dependent protein kinase-1 actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphoinositide-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway cytosol|nucleoplasm|plasma membrane 3-phosphoinositide-dependent protein kinase activity|ATP binding|protein binding central_nervous_system(2)|ovary(1) 3 Ovarian(90;0.17) Celecoxib(DB00482) --- --- --- --- --- ---
PRPF39 55015 broad.mit.edu 37 14 45584516 45584516 + 3'-UTR SNP G A A rs117030499 by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr14:45584516G>A uc001wvz.3 + PRPF39_uc001wvy.3_3'-UTR|PRPF39_uc010and.2_3'-UTR|PRPF39_uc001wwa.1_3'-UTR NM_017922 NP_060392 PRP39 pre-mRNA processing factor 39 homolog mRNA processing|RNA splicing nucleus binding ovary(1)|breast(1) 2 --- --- --- --- --- ---
SETX 23064 broad.mit.edu 37 9 135202086 135202086 + Synonymous SNP C A A NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr9:135202086C>A uc004cbk.2 - c.5082G>T c.(5080-5082)TCG>TCT p.S1633S SETX_uc004cbj.2_Synonymous_p.S1252S|SETX_uc010mzt.2_Synonymous_p.S1252S NM_015046 NP_055861 Q7Z333 SETX_HUMAN senataxin 1633 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA binding|DNA helicase activity ovary(2) 2 Myeloproliferative disorder(178;0.204) --- --- --- --- --- ---
SOX5 6660 broad.mit.edu 37 12 23685889 23685889 + 3'-UTR SNP G A A NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr12:23685889G>A uc001rfw.2 - SOX5_uc001rfx.2_3'-UTR|SOX5_uc001rfy.2_3'-UTR|SOX5_uc001rfv.2_3'-UTR|SOX5_uc010siv.1_3'-UTR NM_006940 NP_008871 SRY (sex determining region Y)-box 5 isoform a transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 --- --- --- --- --- ---
SP100 6672 broad.mit.edu 37 2 231405213 231405213 + Intron SNP G T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr2:231405213G>T uc002vqu.1 + SP100_uc010fxp.1_Intron NM_001080391 NP_001073860 nuclear antigen Sp100 isoform 1 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral transcription|positive regulation of transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to interferon-gamma|response to retinoic acid|response to type I interferon|retinoic acid receptor signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|general transcriptional repressor activity|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) --- --- --- --- --- ---
TBC1D24 57465 broad.mit.edu 37 16 2531358 2531358 + Intron SNP C T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr16:2531358C>T uc002cql.2 + TBC1D24_uc002cqk.2_Intron NM_020705 NP_065756 TBC1 domain family, member 24 neuron projection development|regulation of Rab GTPase activity cytoplasm protein binding|Rab GTPase activator activity 0 --- --- --- --- --- ---
TNFAIP1 7126 broad.mit.edu 37 17 26663076 26663076 + Intron SNP T A A NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr17:26663076T>A uc002hax.1 + IFT20_uc002hau.1_5'-Flank|IFT20_uc002hav.1_5'-Flank|IFT20_uc002haw.1_5'-Flank|IFT20_uc010wae.1_5'-Flank|TNFAIP1_uc002hay.2_Intron|TNFAIP1_uc010waf.1_Intron NM_021137 NP_066960 tumor necrosis factor, alpha-induced protein 1 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity 0 all_lung(13;0.000294)|Lung NSC(42;0.000964) --- --- --- --- --- ---
ZBTB4 57659 broad.mit.edu 37 17 7367031 7367031 + TX-REF-MISMATCH SNP C T T NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr17:7367031C>T uc002ghc.3 - c.1520G>A ZBTB4_uc002ghd.3_TX-REF-MISMATCH NM_001128833 NP_001122305 zinc finger and BTB domain containing 4 regulation of transcription|transcription nucleus DNA binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) --- --- --- --- --- ---
ZDHHC5 25921 broad.mit.edu 37 11 57468129 57468129 + 3'-UTR SNP T C C rs1783979 byFrequency;by1000genomes NBL2 NBL2G Phase_I Unspecified Illumina GAIIx g.chr11:57468129T>C uc001nkx.1 + ZDHHC5_uc001nky.1_3'-UTR|ZDHHC5_uc001nkz.1_3'-UTR NM_015457 NP_056272 zinc finger, DHHC domain containing 5 integral to membrane acyltransferase activity|zinc ion binding skin(1) 1 --- --- --- --- --- ---