ANO3 63982 broad.mit.edu 37 11 26596490 26596490 + Intron SNP G T T NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr11:26596490G>T uc001mqt.3 + ANO3_uc010rdr.1_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_5'-Flank|MUC15_uc001mqx.2_5'-Flank|MUC15_uc001mqy.2_5'-Flank NM_031418 NP_113606 transmembrane protein 16C chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 --- --- --- --- --- ---
ANO3 63982 broad.mit.edu 37 11 26683338 26683338 + 3'-UTR SNP G T T NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr11:26683338G>T uc001mqt.3 + ANO3_uc010rdr.1_3'-UTR|ANO3_uc010rds.1_3'-UTR|ANO3_uc010rdt.1_3'-UTR NM_031418 NP_113606 transmembrane protein 16C chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 --- --- --- --- --- ---
ARFGEF2 10564 broad.mit.edu 37 20 47632832 47632832 + Missense SNP A G G NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr20:47632832A>G uc002xtx.3 + c.4347A>G c.(4347-4349)ACA>GCA p.T1399A ARFGEF2_uc010zyf.1_Missense_p.T692A NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1399 exocytosis|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3) 3 --- --- --- Esophageal Squamous(176;1738 1974 26285 33069 35354) --- ---
ATM 472 broad.mit.edu 37 11 108196798 108196798 + Missense SNP C T T NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr11:108196798C>T uc001pkb.1 + c.7206C>T c.(7205-7207)GCA>GTA p.A2274V ATM_uc009yxr.1_Missense_p.A2274V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_p.A926V|ATM_uc001pkg.1_Missense_p.A631V NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2274 FAT. A -> T (in B-cell chronic lymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding haematopoietic_and_lymphoid_tissue(174)|lung(24)|breast(14)|large_intestine(9)|kidney(5)|central_nervous_system(4)|ovary(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 237 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) TSP Lung(14;0.12) --- --- --- --- ---
CRMP1 1400 broad.mit.edu 37 4 5813824 5813824 + Intron SNP A C C rs71599848 NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr4:5813824A>C 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 --- --- --- --- --- ---
CWF19L2 143884 broad.mit.edu 37 11 107207218 107207218 + Intron SNP C T T NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr11:107207218C>T uc010rvp.1 - CWF19L2_uc001pjh.3_Intron|CWF19L2_uc009yxo.2_Intron NM_152434 NP_689647 CWF19-like 2, cell cycle control catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) --- --- --- --- --- ---
FAT4 79633 broad.mit.edu 37 4 126241794 126241794 + Missense SNP G C C NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr4:126241794G>C uc003ifj.3 + c.4228G>C c.(4228-4230)GTG>CTG p.V1410L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1410 Cadherin 13.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(8)|pancreas(2) 10 --- --- --- --- --- ---
MTMR7 9108 broad.mit.edu 37 8 17167874 17167874 + Intron SNP G A A NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr8:17167874G>A uc003wxm.2 - MTMR7_uc003wxn.2_Intron|MTMR7_uc011kya.1_Intron|MTMR7_uc011kyb.1_Intron NM_004686 NP_004677 myotubularin related protein 7 protein dephosphorylation protein tyrosine phosphatase activity 0 --- --- --- --- --- ---
NAP1L2 4674 broad.mit.edu 37 X 72432373 72432373 + 3'-UTR SNP A T T NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chrX:72432373A>T uc004ebi.2 - NM_021963 NP_068798 nucleosome assembly protein 1-like 2 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) --- --- --- --- --- ---
NXF5 55998 broad.mit.edu 37 X 101091058 101091058 + Intron SNP T C C NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chrX:101091058T>C uc011mrk.1 - NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript NM_032946 NP_116564 nuclear RNA export factor 5 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 --- --- --- --- --- ---
PLXNC1 10154 broad.mit.edu 37 12 94637718 94637718 + Missense SNP G T T NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr12:94637718G>T uc001tdc.2 + c.2554G>T c.(2554-2556)GGT>TGT p.G769C NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 769 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 --- --- --- --- --- ---
SLC2A12 154091 broad.mit.edu 37 6 134310960 134310960 + 3'-UTR SNP A C C NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr6:134310960A>C uc003qem.1 - NM_145176 NP_660159 solute carrier family 2 (facilitated glucose endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity ovary(1) 1 Breast(56;0.214)|Colorectal(23;0.221) --- --- --- Melanoma(122;1663 1672 14489 35294 41228) --- ---
UST 10090 broad.mit.edu 37 6 149276822 149276822 + Intron SNP C A A NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr6:149276822C>A uc003qmg.2 + NM_005715 NP_005706 uronyl-2-sulfotransferase carbohydrate biosynthetic process|protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) --- --- --- --- --- ---
UST 10090 broad.mit.edu 37 6 149360208 149360208 + Intron SNP C A A NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr6:149360208C>A uc003qmg.2 + NM_005715 NP_005706 uronyl-2-sulfotransferase carbohydrate biosynthetic process|protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) --- --- --- --- --- ---
ZDHHC2 51201 broad.mit.edu 37 8 17079132 17079132 + 3'-UTR SNP G A A NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr8:17079132G>A uc003wxe.2 + NM_016353 NP_057437 zinc finger, DHHC-type containing 2 integral to membrane zinc ion binding 0 --- --- --- --- --- ---
ZMYM1 79830 broad.mit.edu 37 1 35580993 35580993 + 3'-UTR SNP C A A NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr1:35580993C>A uc001bym.2 + ZMYM1_uc001byn.2_3'-UTR|ZMYM1_uc010ohu.1_3'-UTR|ZMYM1_uc001byo.2_3'-UTR|ZMYM1_uc009vut.2_3'-UTR NM_024772 NP_079048 zinc finger, MYM domain containing 1 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) --- --- --- --- --- ---
ZNF709 163051 broad.mit.edu 37 19 12640322 12640322 + Intron SNP T G G NBL7 NBL7G Phase_I Unspecified Illumina GAIIx g.chr19:12640322T>G uc002mtx.3 - ZNF564_uc002mty.2_Intron NM_001145647 NP_001139119 zinc finger protein 709 isoform b regulation of transcription, DNA-dependent|transcription nucleus DNA binding|zinc ion binding 0 --- --- --- GBM(33;565 669 12371 29134 51667) --- ---