ATP2B4 493 broad.mit.edu 37 1 203710894 203710894 + 3'-UTR SNP G T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr1:203710894G>T uc001gzw.2 + ATP2B4_uc001gzv.2_3'-UTR|ATP2B4_uc001gzx.2_3'-UTR|ATP2B4_uc009xar.2_3'-UTR NM_001684 NP_001675 plasma membrane calcium ATPase 4 isoform 4b ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2) 2 all_cancers(21;0.071)|all_epithelial(62;0.228) --- --- --- --- --- ---
BCHE 590 broad.mit.edu 37 3 165490822 165490822 + 3'-UTR SNP G A A NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr3:165490822G>A uc003fem.3 - BCHE_uc003fen.3_Non-coding_Transcript NM_000055 NP_000046 butyrylcholinesterase precursor cocaine metabolic process membrane acetylcholinesterase activity|beta-amyloid binding|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) --- --- --- --- --- ---
BMP2K 55589 broad.mit.edu 37 4 79722742 79722742 + Intron SNP C T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr4:79722742C>T uc003hlk.2 + BMP2K_uc010ijl.1_Intron|BMP2K_uc003hlj.2_Intron NM_198892 NP_942595 BMP-2 inducible kinase isoform a protein phosphorylation nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 --- --- --- --- --- ---
C6orf165 154313 broad.mit.edu 37 6 88144705 88144705 + Synonymous SNP A G G rs17853388 NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr6:88144705A>G uc003plv.2 + c.1520A>G c.(1518-1520)AAG>AAG p.K476K SLC35A1_uc003plx.2_5'-Flank|C6orf165_uc003plw.2_Synonymous_p.K288K|C6orf165_uc010kbv.1_Non-coding_Transcript|C6orf165_uc003plu.1_Synonymous_p.K476K NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 476 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) --- --- --- --- --- ---
CCDC6 8030 broad.mit.edu 37 10 61552774 61552774 + Synonymous SNP C T T rs1053265 byFrequency;by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr10:61552774C>T uc001jks.3 - c.1962G>A c.(1960-1962)CCG>CCA p.P442P NM_005436 NP_005427 Q16204 CCDC6_HUMAN coiled-coil domain containing 6 442 SH3-binding (Potential).|Poly-Pro. cytoplasm|cytoskeleton SH3 domain binding|structural constituent of cytoskeleton ovary(3) 3 --- --- --- --- --- ---
CYB5R3 1727 broad.mit.edu 37 22 43015209 43015209 + 3'-UTR SNP C A A NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr22:43015209C>A uc011aps.1 - CYB5R3_uc010gzc.1_3'-UTR|CYB5R3_uc003bcw.2_3'-UTR|CYB5R3_uc003bcy.2_3'-UTR|CYB5R3_uc003bcx.2_3'-UTR|CYB5R3_uc003bcz.2_3'-UTR NM_007326 NP_015565 cytochrome b5 reductase 3 isoform s blood circulation|cholesterol biosynthetic process|oxidation-reduction process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity 0 NADH(DB00157) --- --- --- --- --- ---
EMILIN2 84034 broad.mit.edu 37 18 2899606 2899606 + Intron SNP A T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr18:2899606A>T uc002kln.2 + NM_032048 NP_114437 elastin microfibril interfacer 2 precursor cell adhesion proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(1) 1 --- --- --- --- --- ---
ERI3 79033 broad.mit.edu 37 1 44796503 44796503 + Intron SNP G T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr1:44796503G>T uc009vxg.2 - ERI3_uc010okv.1_Intron|ERI3_uc001clt.2_Intron|ERI3_uc010okw.1_Intron|ERI3_uc001clu.2_Intron NM_024066 NP_076971 prion protein interacting protein intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 --- --- --- --- --- ---
FRAS1 80144 broad.mit.edu 37 4 79284694 79284694 + Missense SNP C T T rs6835769 byFrequency;by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr4:79284694C>T uc003hlb.2 + c.2890C>T c.(2889-2891)GCA>GTA p.A817V FRAS1_uc003hkw.2_Missense_p.A817V NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 817 FU 9.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 --- --- --- --- --- ---
GNA11 2767 broad.mit.edu 37 19 3109646 3109646 + Intron SNP A G G NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr19:3109646A>G uc002lxd.2 + NM_002067 NP_002058 guanine nucleotide binding protein (G protein), platelet activation|protein ADP-ribosylation cytoplasm|plasma membrane GTP binding|GTPase activity|signal transducer activity eye(70)|skin(16) 86 Hepatocellular(1079;0.137) --- --- --- --- OREG0025149(1) type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)(1)
HLA-DRB1 3123 broad.mit.edu 37 6 32548632 32548632 + Missense SNP T A A rs112748470 NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr6:32548632T>A uc003obp.3 - c.697A>T c.(695-697)AGA>AGT p.R218S HLA-DRB1_uc011dqa.1_Missense_p.R48S|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_Intron|HLA-DRB1_uc011dqb.1_Intron|HLA-DRB1_uc011dqc.1_Missense_p.R48S NM_002124 NP_002115 P01911 2B1F_HUMAN major histocompatibility complex, class II, DR 218 Beta-2.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex 0 Multiple Myeloma(14;0.17) --- --- --- --- ---
HNRNPU 3192 broad.mit.edu 37 1 245027349 245027349 + Synonymous SNP C T T rs6675421 byFrequency;by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr1:245027349C>T uc001iaz.1 - c.479G>A c.(477-479)GAG>GAA p.E87E HNRNPU_uc001iay.1_5'-Flank|HNRNPU_uc001iba.1_Synonymous_p.E87E|HNRNPU_uc001ibb.1_Intron NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 87 Poly-Glu.|Asp/Glu-rich (acidic). cell killing|CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm|spliceosomal complex ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) --- --- --- NSCLC(33;911 1010 3329 23631 49995) --- ---
INPP5D 3635 broad.mit.edu 37 2 233967452 233967452 + Intron SNP C A A NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr2:233967452C>A uc010zmo.1 + INPP5D_uc010zmp.1_Intron NM_001017915 NP_001017915 SH2 containing inositol phosphatase isoform a apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) --- --- --- NSCLC(82;1215 1426 16163 20348 41018) --- ---
LPIN2 9663 broad.mit.edu 37 18 2919606 2919606 + 3'-UTR SNP A T T rs607549 byFrequency;by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr18:2919606A>T uc002klo.2 - NM_014646 NP_055461 lipin 2 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 --- --- --- --- --- ---
MGAM 8972 broad.mit.edu 37 7 141708483 141708483 + Missense SNP T C C NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr7:141708483T>C uc003vwy.2 + c.359T>C c.(358-360)ATC>ACC p.I102T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 102 P-type 1.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane alpha-glucosidase activity|carbohydrate binding|glucan 1,4-alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) --- --- --- --- --- ---
NCLN 56926 broad.mit.edu 37 19 3207646 3207646 + Missense SNP A G G rs2288949 byFrequency;by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr19:3207646A>G uc002lxi.2 + c.1806A>G c.(1805-1807)AAG>AGG p.K551R NCLN_uc002lxh.1_Non-coding_Transcript|NCLN_uc002lxj.1_Non-coding_Transcript|NCLN_uc002lxk.2_Missense_p.K195R NM_020170 NP_064555 Q969V3 NCLN_HUMAN nicalin precursor 551 Cytoplasmic (Potential). proteolysis endoplasmic reticulum membrane|integral to membrane|nucleus peptidase activity|protein binding 0 Hepatocellular(1079;0.137) --- --- --- --- --- ---
OVOL2 58495 broad.mit.edu 37 20 18022200 18022200 + Missense SNP C A A NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr20:18022200C>A uc002wqi.1 - c.732G>T c.(730-732)AAG>AAT p.K163N NM_021220 NP_067043 Q9BRP0 OVOL2_HUMAN zinc finger protein 339 163 C2H2-type 2. negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription nucleus|nucleus DNA binding|promoter binding|zinc ion binding central_nervous_system(1) 1 --- --- --- --- --- ---
PDXK 8566 broad.mit.edu 37 21 45175958 45175958 + 3'-UTR SNP T C C rs7527 byFrequency;by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr21:45175958T>C uc002zdm.3 + PDXK_uc010gpj.2_3'-UTR|PDXK_uc002zdn.3_3'-UTR|PDXK_uc002zdq.3_3'-UTR NM_003681 NP_003672 pyridoxal kinase cell proliferation|pyridoxal phosphate biosynthetic process|pyridoxine biosynthetic process cytosol ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding 0 Pyridoxal(DB00147)|Pyridoxine(DB00165) --- --- --- --- --- ---
PSD3 23362 broad.mit.edu 37 8 18386529 18386529 + 3'-UTR SNP C T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr8:18386529C>T uc003wza.2 - PSD3_uc003wyx.3_3'-UTR|PSD3_uc003wyy.2_3'-UTR|PSD3_uc003wyz.2_3'-UTR NM_015310 NP_056125 ADP-ribosylation factor guanine nucleotide regulation of ARF protein signal transduction cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 --- --- --- --- --- ---
PSD3 23362 broad.mit.edu 37 8 18475089 18475089 + Intron SNP C T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr8:18475089C>T uc003wza.2 - PSD3_uc003wyx.3_Intron|PSD3_uc003wyy.2_Intron|PSD3_uc003wyz.2_Intron NM_015310 NP_056125 ADP-ribosylation factor guanine nucleotide regulation of ARF protein signal transduction cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 --- --- --- --- --- ---
RARS2 57038 broad.mit.edu 37 6 88258143 88258143 + Intron SNP A G G NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr6:88258143A>G uc003pme.2 - RARS2_uc003pmb.2_Intron|RARS2_uc003pmc.2_Intron|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_Intron NM_020320 NP_064716 arginyl-tRNA synthetase 2, mitochondrial arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) --- --- --- --- --- ---
RGS7 6000 broad.mit.edu 37 1 241160595 241160595 + Intron SNP C T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr1:241160595C>T uc001hyv.2 - RGS7_uc010pyh.1_Intron|RGS7_uc010pyj.1_Intron|RGS7_uc001hyu.2_Intron|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Intron NM_002924 NP_002915 regulator of G-protein signaling 7 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|kidney(1) 5 all_cancers(173;0.0131) --- --- --- --- --- ---
SMG7 9887 broad.mit.edu 37 1 183491194 183491194 + Intron SNP A T T NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr1:183491194A>T uc001gqf.2 + SMG7_uc010pob.1_Intron|SMG7_uc001gqh.2_Intron|SMG7_uc001gqg.2_Intron|SMG7_uc001gqi.2_Intron|SMG7_uc010poc.1_Intron NM_201568 NP_963862 SMG-7 homolog isoform 2 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding central_nervous_system(1) 1 --- --- --- --- --- ---
SPAST 6683 broad.mit.edu 37 2 32380709 32380709 + 3'-UTR SNP C A A NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr2:32380709C>A uc002roc.2 + SPAST_uc002rod.2_3'-UTR NM_014946 NP_055761 spastin isoform 1 cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) --- --- --- --- --- ---
URGCP 55665 broad.mit.edu 37 7 43918152 43918152 + Missense SNP C A A NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr7:43918152C>A uc003tiw.2 - c.967G>T c.(967-969)GCC>TCC p.A304S URGCP_uc003tiu.2_Missense_p.A261S|URGCP_uc003tiv.2_Missense_p.A229S|URGCP_uc003tix.2_Missense_p.A295S|URGCP_uc003tiy.2_Missense_p.A261S|URGCP_uc003tiz.2_Missense_p.A261S|URGCP_uc011kbj.1_Missense_p.A261S NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 304 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1) 3 --- --- --- --- --- ---
USHBP1 83878 broad.mit.edu 37 19 17360878 17360878 + 3'-UTR SNP A G G rs3745168 by1000genomes NBL9 NBL9G Phase_I Unspecified Illumina GAIIx g.chr19:17360878A>G uc002nfs.1 - USHBP1_uc002nfr.1_3'-UTR|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_3'-UTR NM_031941 NP_114147 Usher syndrome 1C binding protein 1 PDZ domain binding ovary(1) 1 --- --- --- --- --- ---