Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut LAMA4 3910 broad.mit.edu 37 6 112508668 112508668 + Missense_Mutation SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr6:112508668G>C uc003pvu.2 - 7 1259 c.950C>G c.(949-951)aCc>aGc p.T317S LAMA4_uc003pvv.2_Missense_Mutation_p.T310S|LAMA4_uc003pvt.2_Missense_Mutation_p.T310S NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA. 317 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GAGGTAGATGGTGGCGTTGAT 0.537000 3 83 0 0 1 0 0 AQP6 363 broad.mit.edu 37 12 50367285 50367285 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr12:50367285G>A uc001rvr.1 + 0 1022 c.329G>A c.(328-330)gGg>gAg p.G110E AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_Non-coding_Transcript NM_001652 NP_001643 Q13520 AQP6_HUMAN Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA. 110 excretion|odontogenesis integral to plasma membrane|transport vesicle membrane anion channel activity|water channel activity endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2) 13 CAGCTGGTGGGGGCCACGGTG 0.677000 7 29 0 0 1 0 0 OR14I1 401994 broad.mit.edu 37 1 248845498 248845498 + Silent SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:248845498C>T uc001ieu.1 - 0 108 c.108G>A c.(106-108)gtG>gtA p.V36V NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA. 36 V -> A (in dbSNP:rs4462184). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TCCCCACCAGCACTGCCAGAT 0.498000 9 41 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60887079 60887079 + Missense_Mutation SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr20:60887079G>C uc002ycq.3 - 69 9599 c.9532C>G c.(9532-9534)Cag>Gag p.Q3178E LAMA5_uc021wfw.1_Missense_Mutation_p.Q3178E NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 3178 Laminin G-like 3. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACGGCCCTGCTGCAGGGAC 0.637000 20 51 0 0 1 0 0 TNNC1 7134 broad.mit.edu 37 3 52485804 52485804 + Silent SNP C C G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr3:52485804C>G uc003deb.3 - 3 299 c.273G>C c.(271-273)ggG>ggC p.G91G NM_003280 NP_003271 P63316 TNNC1_HUMAN Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA. 91 cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding p.G91W(1) endometrium(1)|lung(3)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525) Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922) CCTCAGATTTCCCTTTGCTGT 0.567000 4 98 0 0 1 0 0 IGFL4 444882 broad.mit.edu 37 19 46543657 46543657 + Missense_Mutation SNP A A G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr19:46543657A>G uc002pdy.1 - 2 142 c.88T>C c.(88-90)Tgc>Cgc p.C30R NM_001002923 NP_001002923 Q6B9Z1 IGFL4_HUMAN Homo sapiens IGF-like family member 4 (IGFL4), mRNA. 30 extracellular region cervix(1)|kidney(1)|lung(1) 3 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208) GCTGGCTGGCATAGCCACAGT 0.602000 4 91 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6422860 6422860 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr11:6422860G>A uc001mdb.1 - 8 1541 c.1441C>T c.(1441-1443)Cgc>Tgc p.R481C APBB1_uc001mdd.3_Missense_Mutation_p.R261C|APBB1_uc001mdc.1_Missense_Mutation_p.R481C|APBB1_uc010rab.2_Missense_Mutation_p.R8C|APBB1_uc010rad.2_Missense_Mutation_p.R200C NM_001164 NP_001155 O00213 APBB1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA. 483 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.R481L(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCCTCACAGCGAAACACGTGG 0.577000 7 84 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147051354 147051354 + Nonsense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr5:147051354G>A uc010jgo.1 - 0 164 c.16C>T c.(16-18)Cga>Tga p.R6* JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R6*|JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R6* NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 6 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCTTATTTCGCCCTTTCTTG 0.458000 11 47 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72926756 72926756 + Silent SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr17:72926756C>A uc010wrp.2 + 5 1118 c.1026C>A c.(1024-1026)gtC>gtA p.V342V NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN Homo sapiens otopetrin 2 (OTOP2), mRNA. 342 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CCACCTTGGTCAGCCTGAGCG 0.612000 15 55 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478657 21478657 + Missense_Mutation SNP T T C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr3:21478657T>C uc003cce.3 - 4 886 c.478A>G c.(478-480)Act>Gct p.T160A ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 160 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 ATTTCCACAGTTGTCGTCGTT 0.428000 14 65 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220198558 220198558 + Missense_Mutation SNP C C G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:220198558C>G uc001hly.1 - 6 936 c.666G>C c.(664-666)caG>caC p.Q222H RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_5'UTR|EPRS_uc001hlz.1_Missense_Mutation_p.Q222H|EPRS_uc009xdt.1_Missense_Mutation_p.Q23H NM_004446 NP_004437 P07814 SYEP_HUMAN Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA. 222 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CCTGGTAGTGCTGGTTCAGAA 0.318000 3 45 0 0 1 0 0 ICMT 23463 broad.mit.edu 37 1 6291980 6291980 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:6291980G>T uc001amk.3 - 3 727 c.654C>A c.(652-654)taC>taA p.Y218* ICMT_uc001aml.3_Nonsense_Mutation_p.Y122* NM_012405 NP_036537 O60725 ICMT_HUMAN Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA. 218 protein targeting to membrane endoplasmic reticulum membrane|integral to membrane|membrane fraction protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity NS(1)|endometrium(2) 3 Ovarian(185;0.0634) all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CAATACTCCAGTAAAACCACC 0.363000 14 60 0 0 1 0 0 C10orf28 27291 broad.mit.edu 37 10 99968514 99968514 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr10:99968514G>T uc001kox.4 + 4 993 c.643G>T c.(643-645)Gag>Tag p.E215* C10orf28_uc001kow.4_Nonsense_Mutation_p.E215*|C10orf28_uc001koy.4_Nonsense_Mutation_p.E215*|C10orf28_uc009xvx.3_Nonsense_Mutation_p.E215*|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA. 215 nucleotide binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2) 20 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) CAAGGTTTTGGAGATACTATA 0.358000 23 22 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55886942 55886942 + Splice_Site SNP T T A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr16:55886942T>A uc021tir.1 - 11 1359 c.1213_splice c.e11-1 p.H405_splice CES5A_uc002eip.2_Splice_Site_p.H376_splice|CES5A_uc002eio.2_Splice_Site_p.H376_splice|CES5A_uc002eiq.2_Splice_Site_p.H137_splice|CES5A_uc002eir.2_Splice_Site_p.H270_splice NM_001190158 NP_001177087 Q6NT32 EST5A_HUMAN Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA. 376 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CGGGATGTGCTGTAAAAATAT 0.458000 5 78 0 0 1 0 0 FOXK2 3607 broad.mit.edu 37 17 80544992 80544992 + Missense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr17:80544992C>T uc002kfn.3 + 7 1801 c.1630C>T c.(1630-1632)Cgg>Tgg p.R544W FOXK2_uc002kfm.1_Missense_Mutation_p.R544W|FOXK2_uc010diu.3_Intron NM_004514 NP_004505 Q01167 FOXK2_HUMAN Homo sapiens forkhead box K2 (FOXK2), mRNA. 544 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 17 Breast(20;0.00106)|all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415) CACTGCCAGCCGGATCATTCA 0.488000 43 82 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217771 130217771 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chrX:130217771G>A uc004evz.3 + 3 728 c.383G>A c.(382-384)cGc>cAc p.R128H ARHGAP36_uc004ewa.3_Missense_Mutation_p.R116H|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R97H|ARHGAP36_uc004ewc.3_5'UTR NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 128 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R128C(2)|p.R127S(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTTACCCGCCGCAAGCATCTT 0.562000 36 168 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128477839 128477839 + Missense_Mutation SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr2:128477839G>C uc002tpg.2 - 15 1959 c.1760C>G c.(1759-1761)cCt>cGt p.P587R NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA. 587 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) TCCTGGAAAAGGCTGGGGTCC 0.493000 5 115 0 0 1 0 0 ST8SIA1 6489 broad.mit.edu 37 12 22487009 22487009 + Missense_Mutation SNP T T C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr12:22487009T>C uc001rfo.4 - 0 640 c.158A>G c.(157-159)aAc>aGc p.N53S ST8SIA1_uc009zix.3_5'UTR NM_003034 NP_003025 Q92185 SIA8A_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA. 53 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 CTCTTTCTCGTTGGGCAGCCG 0.662000 4 130 0 0 1 0 0 CASC4 113201 broad.mit.edu 37 15 44581275 44581275 + Silent SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr15:44581275C>T uc001ztp.3 + 0 367 c.48C>T c.(46-48)ctC>ctT p.L16L CASC4_uc001ztq.3_Silent_p.L16L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L16L NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA. 16 integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TGCCCTCTCTCGTGCTGGTGG 0.677000 42 58 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41594528 41594528 + Missense_Mutation SNP C C G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr19:41594528C>G uc002opt.3 + 0 161 c.152C>G c.(151-153)aCa>aGa p.T51R NM_000766 NP_000757 Q16696 CP2AD_HUMAN Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA. 51 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CAGCTGAACACAGAGCAGATG 0.602000 11 121 0 0 1 0 0 FASTK 10922 broad.mit.edu 37 7 150775088 150775088 + Missense_Mutation SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr7:150775088C>A uc003wix.1 - 4 1015 c.917G>T c.(916-918)cGg>cTg p.R306L AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Missense_Mutation_p.R67L|FASTK_uc003wiy.1_Missense_Mutation_p.R165L|FASTK_uc003wiz.1_Missense_Mutation_p.R279L|FASTK_uc003wja.1_3'UTR NM_006712 NP_006703 Q14296 FASTK_HUMAN Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA. 306 apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing ATP binding|Fas-activated serine/threonine kinase activity|protein binding lung(4)|stomach(2) 6 OV - Ovarian serous cystadenocarcinoma(82;0.00989) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138) CCCTGCTTCCCGAGCCAGGAT 0.577000 4 181 0 0 1 0 0 GNAL 2774 broad.mit.edu 37 18 11752905 11752905 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr18:11752905G>A uc002kqc.2 + 1 857 c.430G>A c.(430-432)Gtc>Atc p.V144I GNAL_uc002kqd.2_Missense_Mutation_p.V67I|GNAL_uc010dkz.2_Missense_Mutation_p.V67I NM_182978 NP_892023 P38405 GNAL_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA. 67 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 GATCCTGCACGTCAATGGGTT 0.468000 14 22 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71768593 71768593 + Silent SNP G G C TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr16:71768593G>C uc002fbb.3 - 24 3166 c.2355C>G c.(2353-2355)ctC>ctG p.L785L AP1G1_uc021tkz.1_Silent_p.L550L|AP1G1_uc010cgg.3_Silent_p.L762L|AP1G1_uc002faz.3_Silent_p.L179L|AP1G1_uc021tky.1_Silent_p.L765L NM_001128 NP_001119 O43747 AP1G1_HUMAN Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA. 762 GAE. endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) TAGGAGACAAGAGCTGCAGCT 0.463000 15 316 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44973729 44973729 + Missense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr14:44973729C>T uc001wvn.3 - 0 2771 c.2462G>A c.(2461-2463)cGt>cAt p.R821H NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 821 cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) TTCAGGAGGACGTTGTTTTAA 0.388000 4 52 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237758830 237758830 + Missense_Mutation SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr1:237758830C>A uc001hyl.1 + 33 4589 c.4469C>A c.(4468-4470)gCg>gAg p.A1490E NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1490 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.A1488V(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGGTATGTGCGGGTGAGAGC 0.463000 8 30 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906055 164906055 + Missense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr3:164906055C>T uc003fej.4 - 1 3008 c.2564G>A c.(2563-2565)gGa>gAa p.G855E SLITRK3_uc003fek.3_Missense_Mutation_p.G855E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G855E NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 855 integral to membrane p.G854A(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 TGCCAAGTCTCCCCCAGTTCC 0.567000 HNSCC(40;0.11) 48 69 0 0 1 0 0 NSUN7 79730 broad.mit.edu 37 4 40776343 40776343 + Missense_Mutation SNP A A G rs148671827 TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr4:40776343A>G uc003gvj.4 + 4 1045 c.550A>G c.(550-552)Att>Gtt p.I184V NSUN7_uc003gvh.2_Missense_Mutation_p.I184V|NSUN7_uc003gvi.4_Missense_Mutation_p.I184V NM_024677 NP_078953 Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA. NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 TGCCCTTTCAATTTACCACAT 0.373000 4 82 0 0 1 0 0 RINT1 60561 broad.mit.edu 37 7 105190850 105190850 + Missense_Mutation SNP G G A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr7:105190850G>A uc003vda.1 + 8 1481 c.1250G>A c.(1249-1251)gGc>gAc p.G417D RINT1_uc010ljj.1_5'UTR NM_021930 NP_068749 Q6NUQ1 RINT1_HUMAN Homo sapiens RAD50 interactor 1 (RINT1), mRNA. 417 RINT1/TIP20. G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport endoplasmic reticulum membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGTGTTCATGGCTATCCTGGC 0.418000 12 242 0 0 1 0 0 EED 8726 broad.mit.edu 37 11 85977149 85977149 + Missense_Mutation SNP A A G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr11:85977149A>G uc001pbr.3 + 7 1217 c.751A>G c.(751-753)Ata>Gta p.I251V EED_uc010rtm.2_Missense_Mutation_p.I251V|EED_uc001pbp.3_Missense_Mutation_p.I251V|EED_uc001pbq.3_Missense_Mutation_p.I251V|EED_uc010rtn.1_Non-coding_Transcript NM_003797 NP_003788 O75530 EED_HUMAN Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA. 251 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) GGGTGAAAAAATAATGTCCTG 0.284000 5 86 0 0 1 0 0 MCM3 4172 broad.mit.edu 37 6 52129524 52129524 + Silent SNP G G A rs111523955 TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr6:52129524G>A uc003pan.1 - 16 2399 c.2289C>T c.(2287-2289)atC>atT p.I763I MCM3_uc011dwu.1_Silent_p.I717I NM_002388 NP_002379 P25205 MCM3_HUMAN Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA. 763 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm ATP binding|DNA binding|helicase activity|protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Lung NSC(77;0.0931) GATTCATGCCGATTGACTGCG 0.527000 70 128 0 0 1 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121668634 121668634 + Missense_Mutation SNP T T G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr7:121668634T>G uc003vjy.3 + 13 5412 c.5017T>G c.(5017-5019)Tta>Gta p.L1673V PTPRZ1_uc011knt.2_Missense_Mutation_p.L813V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L813V NM_002851 NP_002842 P23471 PTPRZ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA. 1673 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ACACTTTTACTTAGAGGACAG 0.383000 7 79 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12885601 12885601 + Splice_Site SNP T T G TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chrX:12885601T>G uc004cvc.3 + 2 42 c.-97_splice c.e2-1 NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTCTCTTAGTTGATGCTATTG 0.393000 39 134 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131848585 131848585 + Silent SNP C C A TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr8:131848585C>A uc003ytd.4 - 11 2869 c.2613G>T c.(2611-2613)ctG>ctT p.L871L ADCY8_uc010mds.3_Silent_p.L740L NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 871 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCTCAGTGAGCAGGGCATAGA 0.557000 HNSCC(32;0.087) 26 25 0 0 1 0 0 DEFB118 117285 broad.mit.edu 37 20 29960791 29960791 + Nonsense_Mutation SNP C C T TCGA-DJ-A2Q0-01A-11D-A202-08 TCGA-DJ-A2Q0-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx dc53f3d7-7da8-44ad-aee6-b62d4ed382d2 676014d2-8fb4-4ae6-8b7e-9c2585117050 g.chr20:29960791C>T uc002wvr.3 + 1 223 c.190C>T c.(190-192)Cga>Tga p.R64* NM_054112 NP_473453 Q96PH6 DB118_HUMAN Homo sapiens defensin, beta 118 (DEFB118), mRNA. 64 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region p.R64L(1) breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGACCACAGGCGAGTTCCTGC 0.438000 9 110 0 0 1 0 0