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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut FAM194A 131831 broad.mit.edu 37 3 150421557 150421557 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:150421557C>T uc003eyg.3 - 0 186 c.129G>A c.(127-129)gaG>gaA p.E43E FAM194A_uc003eyh.3_Intron NM_152394 NP_689607 Q7L0X2 F194A_HUMAN Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA. 43 Glu-rich. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 cttcctcctcctcctccacct 0.612000 11 4 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209200545 209200545 + Nonsense_Mutation SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:209200545G>T uc002vcz.3 + 25 4443 c.4285G>T c.(4285-4287)Gaa>Taa p.E1429* PIKFYVE_uc002vcy.1_Nonsense_Mutation_p.E1373* NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 1429 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TGCCATTGATGAAAGACTTGC 0.303000 40 14 2.48551e-13 2.52771e-13 1 1 0 CKAP2 26586 broad.mit.edu 37 13 53035087 53035087 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr13:53035087T>C uc001vgv.2 + 2 409 c.212T>C c.(211-213)gTg>gCg p.V71A CKAP2_uc001vgt.2_Missense_Mutation_p.V70A|CKAP2_uc001vgu.2_Missense_Mutation_p.V70A|CKAP2_uc010tha.1_Missense_Mutation_p.V22A NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA. 71 apoptosis|cell cycle centrosome|microtubule|spindle pole breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1) 20 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) GGGACTAAAGTGCTGAAACTT 0.348000 31 18 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235590494 235590494 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:235590494C>T uc010pxr.1 + 5 623 c.500C>T c.(499-501)tCa>tTa p.S167L TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.S167L|TBCE_uc001hxa.1_Missense_Mutation_p.S167L|TBCE_uc001hxb.1_Missense_Mutation_p.S54L NM_003193 NP_003184 Q15813 TBCE_HUMAN Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA. 167 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CTGTTGTCATCATGGGATGAA 0.348000 19 36 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151130834 151130834 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:151130834G>A uc011eem.1 + 9 1507 c.1419G>A c.(1417-1419)ctG>ctA p.L473L PLEKHG1_uc011eel.1_Silent_p.L454L|PLEKHG1_uc003qny.1_Silent_p.L414L|PLEKHG1_uc003qnz.2_Silent_p.L414L NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 414 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) TAAAGAGACTGATTCTGGAGA 0.478000 19 12 0 0 1 0 0 CA5B 11238 broad.mit.edu 37 X 15794968 15794968 + Silent SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:15794968A>G uc004cxe.3 + 6 867 c.750A>G c.(748-750)caA>caG p.Q250Q NM_007220 NP_009151 Q9Y2D0 CAH5B_HUMAN Homo sapiens carbonic anhydrase VB, mitochondrial (CA5B), nuclear gene encoding mitochondrial protein, mRNA. 250 one-carbon metabolic process mitochondrion carbonate dehydratase activity|zinc ion binding endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2) 9 Hepatocellular(33;0.183) TTAAGAAGCAACCAGTAGAGG 0.493000 89 41 0 0 1 0 0 GPR137B 7107 broad.mit.edu 37 1 236306026 236306026 + Missense_Mutation SNP C G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:236306026C>G uc001hxq.3 + 0 195 c.104C>G c.(103-105)cCg>cGg p.P35R NM_003272 NP_003263 O60478 G137B_HUMAN Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA. 35 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) ACGCTGACCCCGGCCGTGCCC 0.716000 6 17 0 0 1 0 0 ARHGAP28 79822 broad.mit.edu 37 18 6890516 6890516 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:6890516C>T uc002knc.3 + 13 4877 c.1666C>T c.(1666-1668)Ctc>Ttc p.L556F ARHGAP28_uc002kne.3_Missense_Mutation_p.L449F|ARHGAP28_uc010wzi.2_Missense_Mutation_p.L431F|ARHGAP28_uc002knf.3_Missense_Mutation_p.L440F NM_001010000 NP_001010000 B4DXL2 B4DXL2_HUMAN Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA. 431 signal transduction intracellular breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 37 Colorectal(10;0.168) CAGGAAGCTGCTCAGGAGGAA 0.483000 15 10 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86800142 86800142 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:86800142G>A uc002blz.1 + 6 736 c.656G>A c.(655-657)aGg>aAg p.R219K NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA. 219 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 CAGATCCTGAGGCAGTGCTAC 0.547000 21 9 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161155081 161155081 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:161155081C>T uc003qtm.4 + 12 1754 c.1642C>T c.(1642-1644)Cca>Tca p.P548S NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 548 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CACGACAAATCCAAGAAAACT 0.458000 48 14 0 0 1 0 0 FLII 2314 broad.mit.edu 37 17 18150990 18150990 + Missense_Mutation SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:18150990A>G uc002gsr.1 - 19 2519 c.2468T>C c.(2467-2469)cTc>cCc p.L823P FLII_uc002gsq.1_Missense_Mutation_p.L694P|FLII_uc010vxn.1_Missense_Mutation_p.L792P|FLII_uc010vxo.1_Missense_Mutation_p.L768P|FLII_uc002gss.1_Missense_Mutation_p.L822P NM_002018 NP_002009 Q13045 FLII_HUMAN Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA. 823 Interaction with ACTL6A. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GGTGCCCTCGAGGCTGCGGCT 0.706000 18 11 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134991082 134991082 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:134991082G>A uc004ezh.3 + 12 1668 c.1501G>A c.(1501-1503)Gat>Aat p.D501N SAGE1_uc010nry.1_Missense_Mutation_p.D470N|SAGE1_uc011mvv.2_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN Homo sapiens sarcoma antigen 1 (SAGE1), mRNA. 501 breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) ACCCCAAACTGATAAGGTCAT 0.448000 48 35 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50114462 50114462 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:50114462C>T uc003cyc.3 + 20 3516 c.3268C>T c.(3268-3270)Ccc>Tcc p.P1090S RBM6_uc003cyd.3_Missense_Mutation_p.P568S|RBM6_uc011bdi.2_Missense_Mutation_p.P432S|RBM6_uc003cye.3_Missense_Mutation_p.P568S|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 1090 G-patch. RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) GATGAGGGGCCCCAGTGTTGG 0.483000 6 9 0 0 1 0 0 SOX10 6663 broad.mit.edu 37 22 38379719 38379719 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:38379719G>A uc003aun.1 - 1 351 c.73C>T c.(73-75)Ccg>Tcg p.P25S AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P25S|SOX10_uc010gxj.3_Missense_Mutation_p.P25S|AK098727_uc003aup.3_5'Flank NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 25 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GCGCTCCCCGGGGACAGGCAG 0.781000 3 5 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59170276 59170276 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:59170276T>C uc010dps.1 + 3 904 c.752T>C c.(751-753)cTt>cCt p.L251P CDH20_uc002lif.2_Missense_Mutation_p.L245P NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 251 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GGAGGGCAGCTTGGAGGATTA 0.498000 OREG0025026 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 87 42 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24896493 24896493 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:24896493G>A uc001isb.2 - 10 3106 c.2619C>T c.(2617-2619)aaC>aaT p.N873N ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Silent_p.N873N|ARHGAP21_uc010qdc.1_Silent_p.N708N NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA. 872 signal transduction Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton GTPase activator activity|protein binding p.S873L(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 CTGTCTTTGAGTTGGGCTGAG 0.358000 43 18 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96166262 96166262 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:96166262G>A uc003hto.3 - 5 1162 c.809C>T c.(808-810)tCt>tTt p.S270F UNC5C_uc010ilc.2_Missense_Mutation_p.S270F|UNC5C_uc003htq.3_Missense_Mutation_p.S270F NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 270 TSP type-1 1. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTTACACACAGACCACTCCGT 0.522000 13 11 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + RNA SNP A G G rs111976783 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:96593000A>G uc010yug.1 - 26 c.1913T>C ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 42 7 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2384292 2384292 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:2384292G>A uc002wfy.1 + 8 1220 c.1159G>A c.(1159-1161)Gat>Aat p.D387N TGM6_uc010gal.1_Missense_Mutation_p.D387N NM_198994 NP_945345 O95932 TGM3L_HUMAN Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA. 387 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CCTGGCTCACGATGGCCCCTT 0.617000 59 47 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23619306 23619306 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:23619306G>A uc002dlx.1 - 11 3429 c.3229C>T c.(3229-3231)Ccc>Tcc p.P1077S NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 1077 Interaction with RAD51 and BRCA2. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding p.H1076D(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) TTGGCACAGGGATGACTCAGG 0.438000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 31 15 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133547732 133547732 + Missense_Mutation SNP C T T rs149758116 by1000genomes TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:133547732C>T uc002ttp.3 - 12 1330 c.956G>A c.(955-957)gGg>gAg p.G319E NCKAP5_uc002ttq.3_Missense_Mutation_p.G319E NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 319 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GATGACAGCCCCCAAGCCAGG 0.507000 23 4 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599432 29599432 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr13:29599432C>T uc001usl.4 + 0 685 c.627C>T c.(625-627)tcC>tcT p.S209S NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 199 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AGCCTCTATCCCTCGACTCCC 0.602000 52 10 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19377618 19377618 + Silent SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:19377618G>T uc004czg.4 + 10 1165 c.1020G>T c.(1018-1020)gtG>gtT p.V340V PDHA1_uc004czh.4_Silent_p.V378V|PDHA1_uc011mjc.2_Silent_p.V347V|PDHA1_uc011mjd.2_Silent_p.V309V|PDHA1_uc010nfl.3_Silent_p.V131V NM_000284 NP_000275 P08559 ODPA_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 340 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) AAATTGATGTGGAAGTGAGGA 0.488000 71 40 5.20006e-24 5.33873e-24 1 1 0 ACAN 176 broad.mit.edu 37 15 89398124 89398124 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:89398124G>A uc010upo.1 + 11 2682 c.2308G>A c.(2308-2310)Gaa>Aaa p.E770K ACAN_uc010upp.1_Missense_Mutation_p.E770K|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 770 cell adhesion hyaluronic acid binding|sugar binding p.E770K(3) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) AGCAACAGAGGAAAGTACAGA 0.537000 9 4 0 0 1 0 0 EPHB3 2049 broad.mit.edu 37 3 184297663 184297663 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:184297663C>T uc003foz.3 + 10 2550 c.2113C>T c.(2113-2115)Cgg>Tgg p.R705W NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 705 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) CACCAAAAGTCGGCCAGTTAT 0.597000 66 24 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31424257 31424257 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:31424257C>T uc010cap.1 + 14 1858 c.1809C>T c.(1807-1809)gcC>gcT p.A603A ITGAD_uc002ebv.1_Silent_p.A602A NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 602 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGGACCTGGCCGTGGGGGCCC 0.672000 53 22 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7765524 7765524 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:7765524G>A uc001ijs.3 + 8 1140 c.978G>A c.(976-978)atG>atA p.M326I NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 326 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 GAGTTAAAATGAAACAAGTAA 0.453000 35 24 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21231816 21231816 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:21231816G>A uc002red.3 - 25 8052 c.7924C>T c.(7924-7926)Cca>Tca p.P2642S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2642 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.I2641L(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AACCTGGATGGGATTTTTATA 0.358000 125 43 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28501815 28501815 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:28501815C>T uc003nll.2 + 4 539 c.537C>T c.(535-537)atC>atT p.I179I GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript NM_001509 NP_001500 O75715 GPX5_HUMAN Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA. 179 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) TCCATGACATCCGTTGGAACT 0.512000 94 37 0 0 1 0 0 HSP90B1 7184 broad.mit.edu 37 12 104331549 104331549 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:104331549T>C uc001tkb.1 + 5 925 c.820T>C c.(820-822)Ttc>Ctc p.F274L HSP90B1_uc010swg.1_Intron|HSP90B1_uc009zui.1_Missense_Mutation_p.F274L NM_003299 NP_003290 P14625 ENPL_HUMAN Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA. 274 ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding p.F274L(1) central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4) 29 Rifabutin(DB00615) ATATTCACAGTTCATAAACTT 0.289000 12 4 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785495 37785495 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr21:37785495C>T uc002yvj.3 + 11 1513 c.1375C>T c.(1375-1377)Ccc>Tcc p.P459S NM_005441 NP_005432 Q13112 CAF1B_HUMAN Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA. 459 DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 TGTCAAAAGCCCCTTGCCGGG 0.632000 15 12 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11584153 11584153 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:11584153C>T uc002gne.3 + 18 3758 c.3690C>T c.(3688-3690)ttC>ttT p.F1230F DNAH9_uc010coo.3_Silent_p.F524F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1230 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCACAGCCTTCGATGCAGAAC 0.522000 11 4 0 0 1 0 0 ZNF16 7564 broad.mit.edu 37 8 146156843 146156843 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:146156843G>A uc003zet.3 - 3 1517 c.1330C>T c.(1330-1332)Cag>Tag p.Q444* ZNF16_uc003zeu.3_Nonsense_Mutation_p.Q444* NM_001029976 NP_008889 P17020 ZNF16_HUMAN Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA. 444 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CTGGAGCTCTGACTAAATGCT 0.488000 54 19 0 0 1 0 0 B4GALNT2 124872 broad.mit.edu 37 17 47243507 47243507 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:47243507C>T uc002ion.2 + 8 1225 c.1166C>T c.(1165-1167)tCt>tTt p.S389F B4GALNT2_uc010wlt.1_Missense_Mutation_p.S303F|B4GALNT2_uc010wlu.1_Missense_Mutation_p.S329F NM_153446 NP_001152860 Q8NHY0 B4GN2_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA. 389 UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion integral to Golgi membrane acetylgalactosaminyltransferase activity endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 24 all cancers(6;0.000316) CTGGCCATATCTCAGGTCACC 0.463000 36 17 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108112902 108112902 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:108112902C>T uc003dxa.1 - 36 5352 c.5295G>A c.(5293-5295)gaG>gaA p.E1765E NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1765 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TCTTGGCCTTCTCTTCTGCAT 0.557000 63 16 0 0 1 0 0 SPHK1 8877 broad.mit.edu 37 17 74383656 74383656 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:74383656G>A uc002jrj.2 + 5 1899 c.1402G>A c.(1402-1404)Gag>Aag p.E468K SPHK1_uc002jrf.1_Missense_Mutation_p.E382K|SPHK1_uc002jrg.1_Missense_Mutation_p.E331K|SPHK1_uc002jrh.2_Missense_Mutation_p.E396K|SPHK1_uc002jri.2_Missense_Mutation_p.E382K|SPHK1_uc002jrk.3_Missense_Mutation_p.E382K NM_182965 NP_001136074 Q9NYA1 SPHK1_HUMAN Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA. 382 'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 11 ACCGCCAGAAGAGCCCTTATG 0.657000 50 8 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31603361 31603361 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:31603361C>T uc003nvb.4 + 23 5625 c.5376C>T c.(5374-5376)gcC>gcT p.A1792A PRRC2A_uc003nvc.4_Silent_p.A1792A NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 1792 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 CTTCCCAGGCCATTCCTGTAT 0.592000 54 23 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11687661 11687661 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:11687661C>T uc002gne.3 + 40 7934 c.7866C>T c.(7864-7866)gcC>gcT p.A2622A DNAH9_uc010coo.3_Silent_p.A1916A NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 2622 AAA 3 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGGCAGATGCCCTGTCCTCTA 0.547000 155 79 0 0 1 0 0 ERBB4 2066 broad.mit.edu 37 2 212295742 212295742 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:212295742C>T uc002veg.1 - 20 2669 c.2571G>A c.(2569-2571)gtG>gtA p.V857V ERBB4_uc002veh.1_Silent_p.V857V|ERBB4_uc010zji.1_Silent_p.V847V|ERBB4_uc010zjj.1_Silent_p.V847V NM_005235 NP_005226 Q15303 ERBB4_HUMAN Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA. 857 Protein kinase. cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTGTGATTTTCACATGGTTTG 0.423000 TSP Lung(8;0.080) 58 27 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35696432 35696432 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:35696432G>A uc002xgi.3 - 2 527 c.448C>T c.(448-450)Cca>Tca p.P150S RBL1_uc002xgj.1_Missense_Mutation_p.P150S|RBL1_uc010gfv.1_Non-coding_Transcript NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 150 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) TCTTCATATGGATTTTGAAAT 0.323000 55 19 0 0 1 0 0 SDK1 221935 broad.mit.edu 37 7 4260943 4260943 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:4260943G>A uc003smx.3 + 39 5913 c.5774G>A c.(5773-5775)gGa>gAa p.G1925E SDK1_uc010kso.3_Missense_Mutation_p.G1181E|SDK1_uc003smy.3_Missense_Mutation_p.G412E NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA. 1925 Fibronectin type-III 13. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TGGACTGAGGGACACTCTGGC 0.627000 20 7 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105205672 105205672 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:105205672G>A uc001ypd.3 + 3 440 c.366G>A c.(364-366)aaG>aaA p.K122K ADSSL1_uc001ype.3_Silent_p.K165K|ADSSL1_uc001ypf.3_Non-coding_Transcript NM_152328 NP_689541 Q8N142 PURA1_HUMAN Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA. 122 AMP biosynthetic process|immune system process|purine base metabolic process cytosol GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CAGGCCTGAAGGACTGGGAGA 0.642000 5 5 0 0 1 0 0 HUS1B 135458 broad.mit.edu 37 6 656586 656586 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:656586G>A uc003mtg.3 - 0 379 c.359C>T c.(358-360)tCg>tTg p.S120L EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron NM_148959 NP_683762 Q8NHY5 HUS1B_HUMAN Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA. 120 endometrium(3)|large_intestine(1)|lung(7) 11 Ovarian(93;0.0733) Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965) GCCCAGGGACGAGACCAGCTC 0.741000 18 15 0 0 1 0 0 OR1D5 8386 broad.mit.edu 37 17 2966102 2966102 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:2966102G>A uc021tns.1 - 0 800 c.800C>T c.(799-801)tCc>tTc p.S267F NM_014566 NP_055381 P58170 OR1D5_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 5 (OR1D5), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 GTCCTTCATGGAGTAGGTATG 0.502000 69 9 0 0 1 0 0 PSG11 5680 broad.mit.edu 37 19 43519293 43519293 + Silent SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:43519293G>T uc002ovm.1 - 3 1046 c.939C>A c.(937-939)tcC>tcA p.S313S PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.S191S|PSG11_uc002ovo.1_Silent_p.S191S NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA. 313 Ig-like C2-type 2. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Prostate(69;0.00682) TCAAGGATGTGGAGCTTTCCT 0.463000 84 59 1.74971e-23 1.79295e-23 1 1 0 FER1L6 654463 broad.mit.edu 37 8 125025711 125025711 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:125025711C>T uc003yqw.3 + 14 2068 c.1862C>T c.(1861-1863)tCa>tTa p.S621L FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 621 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATCAAGATTTCACAGGAGGCA 0.483000 66 30 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22562688 22562688 + Missense_Mutation SNP G A A rs142412986 by1000genomes TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:22562688G>A uc002wsm.3 - 1 1377 c.1192C>T c.(1192-1194)Cac>Tac p.H398Y FOXA2_uc002wsn.3_Missense_Mutation_p.H392Y NM_021784 NP_710141 Q9Y261 FOXA2_HUMAN Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA. 392 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific 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 breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) tggtggtggtggctgtggtgg 0.617000 26 14 0 0 1 0 0 EFNA5 1946 broad.mit.edu 37 5 106717021 106717021 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:106717021G>A uc003kol.3 - 4 904 c.622C>T c.(622-624)Cca>Tca p.P208S NM_001962 NP_001953 P52803 EFNA5_HUMAN Homo sapiens ephrin-A5 (EFNA5), mRNA. 208 cell-cell signaling anchored to plasma membrane|caveola|extracellular space ephrin receptor binding large_intestine(6) 6 all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241) Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109) GGTATCCTTGGTGTTTGTGCC 0.493000 55 19 0 0 1 0 0 ZNF497 162968 broad.mit.edu 37 19 58868414 58868414 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:58868414G>A uc002qsh.2 - 2 871 c.588C>T c.(586-588)ggC>ggT p.G196G A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Silent_p.G196G|ZNF497_uc021vcw.1_Silent_p.G196G|BC023201_uc002qsj.1_5'UTR|BC023201_uc002qsk.1_5'Flank NM_198458 NP_940860 Q6ZNH5 ZN497_HUMAN Homo sapiens zinc finger protein 497 (ZNF497), mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) CGAAGGACTTGCCGCAGTCCG 0.682000 9 7 0 0 1 0 0 FSD1 79187 broad.mit.edu 37 19 4318903 4318903 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:4318903C>T uc002lzy.2 + 9 1147 c.994C>T c.(994-996)Cgt>Tgt p.R332C FSD1_uc002maa.2_Missense_Mutation_p.R145C NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA. 332 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCTCAGGTCGTGGGGGACG 0.597000 32 19 0 0 1 0 0 LCE1B 353132 broad.mit.edu 37 1 152785139 152785139 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:152785139G>A uc001faq.3 + 0 693 c.217G>A c.(217-219)Ggt>Agt p.G73S NM_178349 NP_848126 Q5T7P3 LCE1B_HUMAN Homo sapiens late cornified envelope 1B (LCE1B), mRNA. 73 Gly-rich. keratinization p.G72R(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TTCTGGGGGAGGTGGCTGCTG 0.677000 103 57 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139100718 139100718 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:139100718G>A uc010nbi.2 - 11 1991 c.1953C>T c.(1951-1953)ttC>ttT p.F651F NM_181701 NP_859052 Q6ZRP7 QSOX2_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA. 651 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) CAACCCCGAGGAAGGGTGCGG 0.607000 98 11 0 0 1 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64484036 64484036 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:64484036C>T uc003jtp.3 - 21 3531 c.2717G>A c.(2716-2718)gGg>gAg p.G906E ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 906 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) CAACCAATCCCCAATGAACCA 0.498000 35 44 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71060880 71060880 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:71060880G>A uc002shg.3 - 2 509 c.462C>T c.(460-462)atC>atT p.I154I NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN Homo sapiens CD207 molecule, langerin (CD207), mRNA. 154 defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TTAACTCTGGGATTTGGGCAT 0.443000 46 29 0 0 1 0 0 MAP4K4 9448 broad.mit.edu 37 2 102490663 102490663 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:102490663C>T uc002tbc.3 + 24 3376 c.2998C>T c.(2998-3000)Cgt>Tgt p.R1000C MAP4K4_uc002tbf.3_Missense_Mutation_p.R953C|MAP4K4_uc002tbd.3_Missense_Mutation_p.R892C|MAP4K4_uc010yvy.2_Missense_Mutation_p.R915C|MAP4K4_uc002tbh.3_Missense_Mutation_p.R837C|MAP4K4_uc002tbg.3_Missense_Mutation_p.R919C|MAP4K4_uc002tbi.3_Missense_Mutation_p.R722C|MAP4K4_uc010yvz.2_Missense_Mutation_p.R959C|MAP4K4_uc002tbk.3_Missense_Mutation_p.R374C|MAP4K4_uc021vlq.1_Missense_Mutation_p.R105C|MAP4K4_uc002tbl.3_Missense_Mutation_p.R105C NM_145687 NP_001229488 O95819 M4K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA. 919 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity p.R1000C(2) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCCGGAGATTCGTAAATACAA 0.473000 11 11 0 0 1 0 0 GDI1 2664 broad.mit.edu 37 X 153668801 153668801 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:153668801C>T uc004fli.4 + 5 1009 c.667C>T c.(667-669)Cca>Tca p.P223S GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.3_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA. 223 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 16 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGCAAGAGCCCATATTTATA 0.572000 74 44 0 0 1 0 0 HOXD3 3232 broad.mit.edu 37 2 177036268 177036268 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:177036268C>T uc002ukt.1 + 2 741 c.565C>T c.(565-567)Ccg>Tcg p.P189S NM_006898 NP_008829 P31249 HXD3_HUMAN Homo sapiens homeobox D3 (HOXD3), mRNA. 189 Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) GGACAAGAGCCCGCCAGGCCC 0.647000 29 14 0 0 1 0 0 ZNF207 7756 broad.mit.edu 37 17 30696710 30696710 + Nonsense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:30696710C>T uc010csz.3 + 12 1773 c.1426C>T c.(1426-1428)Cag>Tag p.Q476* ZNF207_uc002hhj.4_Nonsense_Mutation_p.Q473*|ZNF207_uc002hhh.4_Nonsense_Mutation_p.Q457*|ZNF207_uc002hhi.4_Nonsense_Mutation_p.Q442*|ZNF207_uc002hhk.1_Nonsense_Mutation_p.Q473*|ZNF207_uc002hhl.1_Non-coding_Transcript O43670 ZN207_HUMAN Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA. 457 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GCCCCCTTACCAGGGTGGGCC 0.542000 24 13 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161006212 161006212 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:161006212G>A uc003qtl.3 - 26 4275 c.4155C>T c.(4153-4155)gtC>gtT p.V1385V NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3893 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGCAGTCCTGGACCCCAGTGC 0.433000 97 50 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62327154 62327154 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:62327154C>T uc001ntm.1 - 9 1457 c.1311G>A c.(1309-1311)aaG>aaA p.K437K EEF1G_uc010rlw.1_Silent_p.K487K NM_001404 NP_001395 P26641 EF1G_HUMAN Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA. 437 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GAGATGTTCACTTGAAGATCT 0.547000 17 7 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027532 37027532 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:37027532G>A uc004ddl.2 + 0 1101 c.1049G>A c.(1048-1050)gGa>gAa p.G350E NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 350 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCGAGACTGGAGTGTCCCAT 0.637000 85 39 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55521827 55521827 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:55521827G>A uc001cyf.2 + 5 1323 c.961G>A c.(961-963)Gat>Aat p.D321N PCSK9_uc010oom.2_Non-coding_Transcript NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 321 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 CTTCCGGGACGATGCCTGCCT 0.746000 6 5 0 0 1 0 0 BTBD3 22903 broad.mit.edu 37 20 11903895 11903895 + Missense_Mutation SNP C G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:11903895C>G uc002wnz.3 + 3 1509 c.1150C>G c.(1150-1152)Cga>Gga p.R384G BTBD3_uc002wny.3_Missense_Mutation_p.R323G|BTBD3_uc002woa.3_Missense_Mutation_p.R323G|BTBD3_uc010zrf.2_Missense_Mutation_p.R233G|BTBD3_uc010zrg.2_Missense_Mutation_p.R233G|BTBD3_uc010zrh.2_Missense_Mutation_p.R233G NM_014962 NP_852108 Q9Y2F9 BTBD3_HUMAN Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA. 384 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GTGTGCCTATCGAAGCAACCA 0.527000 24 14 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18890295 18890295 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:18890295C>T uc021qvx.1 - 2 202 c.11_splice c.e2+1 p.R4_splice PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|CAPZA3_uc001rdy.3_5'Flank NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 4 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R4T(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CAATGGATATCTCATTTCCAT 0.408000 37 21 0 0 1 0 0 MAPK3 5595 broad.mit.edu 37 16 30129374 30129374 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:30129374G>A uc002dws.3 - 3 754 c.654C>T c.(652-654)aaC>aaT p.N218N BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.N104N|MAPK3_uc002dwv.4_Silent_p.N218N|MAPK3_uc002dwt.3_Silent_p.N218N NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 218 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CTACCTTGGAGTTCAGCATGA 0.622000 18 13 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117303220 117303220 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:117303220C>T uc001prh.1 - 30 5209 c.5207_splice c.e30-1 p.G1736_splice NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1676 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTTGTCATCTCCTGGGGAAAG 0.458000 53 24 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140181517 140181517 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:140181517G>A uc003lhf.2 + 0 735 c.735G>A c.(733-735)acG>acA p.T245T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.T245T NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 260 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGAGAGGACGATCTATAAAG 0.448000 16 25 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207527784 207527784 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:207527784G>A uc002vbr.1 - 10 1593 c.1476C>T c.(1474-1476)ccC>ccT p.P492P NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN Homo sapiens dystrotelin (DYTN), mRNA. 492 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GAACCATTTTGGGGATGTCCT 0.507000 40 23 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121485609 121485609 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:121485609G>A uc001pxx.3 + 40 5578 c.5449G>A c.(5449-5451)Gag>Aag p.E1817K SORL1_uc010rzp.1_Missense_Mutation_p.E663K|SORL1_uc010rzq.1_Missense_Mutation_p.E432K NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1817 Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TACATCCTATGAGATTTCTGC 0.512000 32 10 0 0 1 0 0 CCDC25 55246 broad.mit.edu 37 8 27614277 27614277 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:27614277C>T uc003xgc.3 - 3 240 c.127G>A c.(127-129)Gac>Aac p.D43N CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Intron|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Intron|CCDC25_uc003xgf.1_Non-coding_Transcript NM_018246 NP_060716 Q86WR0 CCD25_HUMAN Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA. 43 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154) GAGAGTTTGTCCACATGAAAC 0.368000 35 13 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156651326 156651326 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:156651326G>A uc003iov.3 + 10 2552 c.2016G>A c.(2014-2016)aaG>aaA p.K672K GUCY1A3_uc010iqd.3_Silent_p.K671K|GUCY1A3_uc003iow.3_Silent_p.K672K|GUCY1A3_uc003iox.3_Silent_p.K672K|GUCY1A3_uc010iqe.3_Silent_p.K437K|GUCY1A3_uc003ioy.3_Silent_p.K672K|GUCY1A3_uc003ioz.3_Silent_p.K437K|GUCY1A3_uc003ipa.3_Non-coding_Transcript|GUCY1A3_uc003ipb.3_Silent_p.K672K NM_000856 NP_001124157 Q02108 GCYA3_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA. 672 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GCTTCCAAAAGAAAGATGTGG 0.403000 33 24 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23379252 23379252 + Silent SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:23379252T>A uc002dln.3 + 4 1028 c.852T>A c.(850-852)ctT>ctA p.L284L NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 284 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) AGAAGGCACTTCCTTCGGCCA 0.502000 102 59 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23524290 23524290 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:23524290G>A uc001wil.3 - 2 734 c.474C>T c.(472-474)acC>acT p.T158T CDH24_uc010akf.3_Silent_p.T158T|CDH24_uc001win.3_Silent_p.T158T NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 158 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) TCTCGGGCACGGTGGCATGGT 0.572000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 23 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3999942 3999944 + Missense_Mutation DNP TC CT CT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:3999942_3999944TC>CT uc002fxe.3 - 9 1787_1789 c.1723_1725GA>AG c.(1723-1725)gga>AG p.G575del ZZEF1_uc002fxk.1_Missense_Mutation_p.G575del NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 575 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CAGATTCAGTTCCGGTAGAAAAA 0.360000 123 10 0 0 1 0 0 ABI1 10006 broad.mit.edu 37 10 27059222 27059222 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:27059222G>A uc001isx.3 - 4 754 c.530C>T c.(529-531)cCt>cTt p.P177L ABI1_uc001itb.3_Missense_Mutation_p.P194L|ABI1_uc001ite.3_Missense_Mutation_p.P172L|ABI1_uc010qdh.2_Missense_Mutation_p.P172L|ABI1_uc010qdi.2_Missense_Mutation_p.P113L|ABI1_uc001itc.3_Missense_Mutation_p.P177L|ABI1_uc001isy.3_Missense_Mutation_p.P177L|ABI1_uc001itd.3_Missense_Mutation_p.P177L|ABI1_uc010qdj.2_Missense_Mutation_p.P177L|ABI1_uc001ita.3_Missense_Mutation_p.P177L|ABI1_uc010qdk.2_Missense_Mutation_p.P177L|ABI1_uc001isz.3_Missense_Mutation_p.P172L|ABI1_uc010qdg.2_Missense_Mutation_p.P43L NM_005470 NP_005461 Q8IZP0 ABI1_HUMAN Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA. 177 P -> L (in Ref. 2; AAC39757). actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTTCTGAGTAGGAGGATTTGT 0.398000 48 22 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286406 152286406 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:152286406C>T uc001ezu.1 - 2 992 c.956G>A c.(955-957)aGa>aAa p.R319K AK056431_uc001ezv.3_Non-coding_Transcript NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 319 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R319T(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGATGGTTTCTGGAAGCCGA 0.567000 Ichthyosis 237 111 0 0 1 0 0 SLC39A13 91252 broad.mit.edu 37 11 47431915 47431916 + Silent DNP CC TT TT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:47431915_47431916CC>TT uc009ylq.3 + 1 446_447 c.270_271CC>TT c.(268-273)ccccta>ccTTta p.90_91PL>PL SLC39A13_uc001nfd.3_Silent_p.90_91PL>PL|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Silent_p.90_91PL>PL NM_001128225 NP_001121697 Q96H72 S39AD_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA. 90 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|kidney(1)|lung(1)|prostate(1) 4 Lung(87;0.0936) TTGTCATTCCCCTAGAGATGGG 0.634000 38 20 0 0 1 0 0 GLB1L3 112937 broad.mit.edu 37 11 134182351 134182351 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:134182351C>T uc009zdf.3 + 13 1756 c.1396C>T c.(1396-1398)Cgc>Tgc p.R466C GLB1L3_uc001qho.4_Non-coding_Transcript NM_001080407 NP_001073876 Q8NCI6 GLBL3_HUMAN Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA. 466 carbohydrate metabolic process cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1) 13 all_hematologic(175;0.127) all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559) Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222) CTCCGGAGGCCGCCTCCGTGC 0.612000 26 11 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40944419 40944419 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:40944419G>A uc002xkg.3 - 11 2267 c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F PTPRT_uc010ggj.3_Missense_Mutation_p.L695F NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 695 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.L695L(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGGGAGAGAGAGGAGGGTTC 0.498000 38 24 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4389397 4389397 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:4389397C>T uc010qye.2 - 0 220 c.129G>A c.(127-129)ggG>ggA p.G43G NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G43W(2)|p.L42F(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GCAGGCTGTTCCCAAGAAGGG 0.527000 24 9 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368064 37368064 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:37368064T>A uc002oex.3 + 2 713 c.332T>A c.(331-333)aTt>aAt p.I111N ZNF345_uc021utn.1_Missense_Mutation_p.I111N|ZNF345_uc002oey.4_Missense_Mutation_p.I111N|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.I111N|ZNF345_uc021utp.1_Missense_Mutation_p.I111N|ZNF345_uc021utq.1_Missense_Mutation_p.I111N NM_003419 NP_003410 Q14585 ZN345_HUMAN Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA. 111 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding p.R110I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATCAAAGAATTCATACTGGT 0.423000 23 18 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196774764 196774764 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:196774764C>T uc002utj.4 - 24 4192 c.4091G>A c.(4090-4092)gGa>gAa p.G1364E NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1364 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.G1364G(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAAGAATTTTCCCAAAGCCAA 0.358000 26 7 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368890 37368890 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:37368890C>T uc002oex.3 + 2 1539 c.1158C>T c.(1156-1158)atC>atT p.I386I ZNF345_uc021utn.1_Silent_p.I386I|ZNF345_uc002oey.4_Silent_p.I386I|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Silent_p.I386I|ZNF345_uc021utp.1_Silent_p.I386I|ZNF345_uc021utq.1_Silent_p.I386I NM_003419 NP_003410 Q14585 ZN345_HUMAN Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA. 386 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAAAACTTATCCAACACCAGC 0.423000 36 15 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166245220 166245220 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:166245220G>A uc002udc.3 + 26 5194 c.4904G>A c.(4903-4905)cGa>cAa p.R1635Q SCN2A_uc002udd.3_Missense_Mutation_p.R1635Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1635Q|SCN2A_uc021vry.1_Missense_Mutation_p.R135Q NM_001040142 NP_066287 Q99250 SCN2A_HUMAN Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. 1635 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.R1635Q(3) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGGATTGGCCGAATCCTACGT 0.468000 70 26 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962953 2962953 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:2962953G>A uc003smv.3 - 15 2289 c.1955C>T c.(1954-1956)tCg>tTg p.S652L NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 652 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.S645L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AGAGGTGACCGAAGGCCGGAA 0.652000 Mis DLBCL 54 20 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119678367 119678367 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:119678367C>T uc004esw.3 - 7 1543 c.1106G>A c.(1105-1107)cGa>cAa p.R369Q CUL4B_uc010nqq.3_Missense_Mutation_p.R68Q|CUL4B_uc004esv.3_Missense_Mutation_p.R351Q NM_003588 NP_003579 Q13620 CUL4B_HUMAN Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA. 369 DNA repair|cell cycle|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding p.R369Q(2)|p.R351Q(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TAAAAGGCTTCGAAGTAAACT 0.373000 62 24 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546638 11546638 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:11546638C>T uc010shk.1 - 2 409 c.374G>A c.(373-375)gGa>gAa p.G125E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. p.G125V(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTGGTTGCCTCCTTGTGGGGG 0.612000 567 25 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81201506 81201507 + Missense_Mutation DNP GG TA TA TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:81201506_81201507GG>TA uc002bfw.1 + 12 1916_1917 c.1656_1657GG>TA c.(1654-1659)gtgggt>gtTAgt p.G553S KIAA1199_uc010unn.1_Missense_Mutation_p.G553S NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 553 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AGCAGCTGGTGGGTCAGTACCC 0.545000 29 13 0 0 1 0 0 KCNQ1 3784 broad.mit.edu 37 11 2799265 2799265 + Missense_Mutation SNP A C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:2799265A>C uc001lwn.3 + 14 1900 c.1792A>C c.(1792-1794)Aag>Cag p.K598Q KCNQ1_uc009ydp.1_Missense_Mutation_p.K382Q|KCNQ1_uc001lwo.3_Missense_Mutation_p.K471Q NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 598 Subunits assembly domain. blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) AGTAGAAGACAAGGTAGGCTC 0.617000 42 16 0 0 1 0 0 FAM40B 57464 broad.mit.edu 37 7 129098233 129098233 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:129098233C>T uc011koy.2 + 9 1256 c.1216C>T c.(1216-1218)Ccc>Tcc p.P406S FAM40B_uc003vow.3_Missense_Mutation_p.P406S|FAM40B_uc011koz.2_5'UTR NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA. 406 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCACAGGCACCCCTCTCTGC 0.602000 12 6 0 0 1 0 0 FAM124B 79843 broad.mit.edu 37 2 225266236 225266236 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:225266236G>A uc002vnx.3 - 0 476 c.250C>T c.(250-252)Cgc>Tgc p.R84C FAM124B_uc002vnw.3_Missense_Mutation_p.R84C NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA. 84 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) TCCAGGACGCGAAATAGCCTA 0.547000 23 13 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154033515 154033515 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:154033515G>A uc001fdw.3 - 18 2723 c.2651C>T c.(2650-2652)tCc>tTc p.S884F NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Missense_Mutation_p.S884F NM_207308 NP_997191 Q5VU65 P210L_HUMAN Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA. 884 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GGGCAAGTTGGAAATTTCCTA 0.428000 74 59 0 0 1 0 0 FAM216B 144809 broad.mit.edu 37 13 43358195 43358195 + Splice_Site SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr13:43358195G>A uc010tfk.2 + 2 116 c.-7_splice c.e2-1 FAM216B_uc010tfl.2_5'UTR NM_182508 NP_872314 Q8N7L0 CM030_HUMAN Homo sapiens chromosome 13 open reading frame 30 (C13orf30), mRNA. TGGAGGTATAGGATAAACGAT 0.348000 39 14 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38995948 38995948 + Splice_Site SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:38995948G>T uc002oit.3 + 53 8441 c.8311_splice c.e53-1 p.I2771_splice RYR1_uc002oiu.3_Splice_Site_p.I2771_splice|RYR1_uc002oiv.1_Splice_Site NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2771 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCCATCTCTAGATCCAGAACA 0.607000 2 3 0.115264 0.115264 1 1 0 CACNA1S 779 broad.mit.edu 37 1 201060863 201060863 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:201060863G>A uc001gvv.3 - 4 826 c.599C>T c.(598-600)gCc>gTc p.A200V NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 200 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity p.A200A(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GACCAGCAGGGCGATGTGAAA 0.557000 17 26 0 0 1 0 0 CRYBB3 1417 broad.mit.edu 37 22 25601247 25601247 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:25601247G>A uc003abo.1 + 4 460 c.388G>A c.(388-390)Gag>Aag p.E130K NM_004076 NP_004067 P26998 CRBB3_HUMAN Homo sapiens crystallin, beta B3 (CRYBB3), mRNA. 130 Beta/gamma crystallin 'Greek key' 3. E -> D (in Ref. 5; CAA33242). visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 CCGCAAGATGGAGATAGTGGA 0.577000 30 6 0 0 1 0 0 CRK 1398 broad.mit.edu 37 17 1339973 1339973 + Missense_Mutation SNP C A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:1339973C>A uc002fsl.3 - 1 868 c.718G>T c.(718-720)Gcc>Tcc p.A240S CRK_uc002fsm.3_Intron NM_016823 NP_058431 P46108 CRK_HUMAN Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA. 240 SH3 2. actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter cytosol|endosome|nucleus|plasma membrane SH2 domain binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2) 9 UCEC - Uterine corpus endometrioid carcinoma (25;0.083) ATAACCCTGGCATATATGGGC 0.572000 76 38 3.54561e-26 3.6471e-26 1 1 0 BDP1 55814 broad.mit.edu 37 5 70806888 70806888 + Silent SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:70806888A>G uc003kbp.1 + 16 4232 c.3969A>G c.(3967-3969)ctA>ctG p.L1323L BDP1_uc003kbn.1_Silent_p.L1323L|BDP1_uc003kbo.3_Silent_p.L1323L NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1323 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAAACGAGCTAGAGGAGACCA 0.418000 33 26 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086055 100086055 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:100086055C>T uc003uvd.1 + 3 870 c.711C>T c.(709-711)ccC>ccT p.P237P NYAP1_uc003uve.1_Silent_p.P19P NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA. 237 TGGCTGGGCCCCCTCTTGGGG 0.642000 45 35 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180419893 180419893 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:180419893C>T uc003mmr.3 + 1 314 c.130C>T c.(130-132)Cct>Tct p.P44S NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN Homo sapiens butyrophilin-like 3 (BTNL3), mRNA. 44 lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) CTCCCTCTTTCCTGAGACCAG 0.542000 13 45 0 0 1 0 0 ACOT11 26027 broad.mit.edu 37 1 55070058 55070058 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:55070058C>T uc001cxm.2 + 11 1368 c.1192C>T c.(1192-1194)Ctt>Ttt p.L398F ACOT11_uc001cxj.2_Missense_Mutation_p.L276F|ACOT11_uc001cxl.2_Missense_Mutation_p.L398F NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 398 START. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CTTGAAGATGCTTGTGGCCAA 0.542000 40 9 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975785 44975785 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:44975785G>A uc001wvn.3 - 0 715 c.406C>T c.(406-408)Cgt>Tgt p.R136C NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA. 136 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) TATCCTGTACGGCTGGTCTGC 0.418000 100 49 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 21 25 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4511006 4511006 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:4511006C>T uc001lza.2 + 0 898 c.876C>T c.(874-876)atC>atT p.I292I NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) TCAATCCTATCATATATGGAG 0.453000 98 45 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 906358 906358 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:906358C>T uc001ace.3 + 4 739 c.704C>T c.(703-705)cCg>cTg p.P235L PLEKHN1_uc001acd.3_Missense_Mutation_p.P195L|PLEKHN1_uc001acf.3_Missense_Mutation_p.P195L NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 235 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CTCGGGGGGCCGCGGCGCTGC 0.741000 19 5 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119115066 119115066 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:119115066C>T uc004bjn.3 + 15 4427 c.4046C>T c.(4045-4047)cCa>cTa p.P1349L PAPPA_uc011lxq.2_Missense_Mutation_p.P724L NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1349 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGCCTCGCTCCACCCCCTGTG 0.582000 28 17 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28993279 28993279 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:28993279G>A uc002kwr.2 + 14 3036 c.2901G>A c.(2899-2901)ggG>ggA p.G967G DSG4_uc002kwq.2_Silent_p.G948G NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 948 homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.E966D(2)|p.R967S(1) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATATTCAAGGGAATATTTGTG 0.423000 101 41 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149826472 149826472 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:149826472G>A uc004fef.4 + 10 1308 c.1232G>A c.(1231-1233)tGg>tAg p.W411* MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Nonsense_Mutation_p.W374*|MTM1_uc011mxz.2_Nonsense_Mutation_p.W296*|MTM1_uc010nte.3_Nonsense_Mutation_p.W279* NM_000252 NP_000243 Q13496 MTM1_HUMAN Homo sapiens myotubularin 1 (MTM1), mRNA. 411 Myotubularin phosphatase. W -> C (in XCNM). endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) CAAAAAGAATGGATAAGTTTT 0.368000 39 17 0 0 1 0 0 LYZ 4069 broad.mit.edu 37 12 69743970 69743970 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:69743970G>A uc001suw.2 + 1 274 c.219G>A c.(217-219)ggG>ggA p.G73G NM_000239 NP_000230 P61626 LYSC_HUMAN Homo sapiens lysozyme (LYZ), mRNA. 73 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) CTGATTATGGGATATTTCAGA 0.418000 32 28 0 0 1 0 0 NOXA1 10811 broad.mit.edu 37 9 140325754 140325754 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:140325754C>T uc004cmu.3 + 7 900 c.765C>T c.(763-765)gtC>gtT p.V255V NOXA1_uc004cmv.3_Silent_p.V255V|NOXA1_uc010nch.3_Silent_p.V199V NM_006647 NP_006638 Q86UR1 NOXA1_HUMAN Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA. 255 regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process NADPH oxidase complex|cytoplasm Rac GTPase binding|superoxide-generating NADPH oxidase activator activity cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1) 9 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982) AGACAGAGGTCGGTGCTGACC 0.672000 57 4 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129950641 129950641 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:129950641C>T uc003qbr.3 - 4 732 c.643G>A c.(643-645)Gag>Aag p.E215K ARHGAP18_uc011ebw.2_Missense_Mutation_p.E215K|ARHGAP18_uc021zfe.1_Missense_Mutation_p.E212K NM_033515 NP_277050 Q8N392 RHG18_HUMAN Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA. 215 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) ATCAGCTTCTCTTCACCAACA 0.458000 68 34 0 0 1 0 0 DMBX1 127343 broad.mit.edu 37 1 46977889 46977889 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:46977889C>T uc001cpx.3 + 3 887 c.872C>T c.(871-873)cCg>cTg p.P291L DMBX1_uc001cpw.3_Missense_Mutation_p.P286L NM_147192 NP_671725 Q8NFW5 DMBX1_HUMAN Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA. 291 brain development|developmental growth|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P291P(1) endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) GTAGGGGGTCCGGCCCCTGCT 0.657000 32 15 0 0 1 0 0 TNK2 10188 broad.mit.edu 37 3 195605959 195605959 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:195605959G>A uc003fvu.1 - 6 1518 c.975C>T c.(973-975)acC>acT p.T325T TNK2_uc003fvs.1_Silent_p.T357T|TNK2_uc003fvt.1_Silent_p.T388T|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Silent_p.T155T|TNK2_uc010hzx.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 325 Protein kinase. TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CCTGGCCGTAGGTGAACATTT 0.632000 96 40 0 0 1 0 0 SIN3B 23309 broad.mit.edu 37 19 16977203 16977203 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:16977203G>A uc002ney.2 + 12 1761 c.1738G>A c.(1738-1740)Gag>Aag p.E580K SIN3B_uc002nez.2_Missense_Mutation_p.E548K|SIN3B_uc010xpi.1_Missense_Mutation_p.E138K NM_015260 NP_056075 O75182 SIN3B_HUMAN Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA. 580 Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CAAGGAAGAGGAGTGGCGGGA 0.607000 42 21 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90050985 90050985 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:90050985G>A uc003kju.3 + 54 11659 c.11563G>A c.(11563-11565)Gaa>Aaa p.E3855K GPR98_uc003kjt.3_Missense_Mutation_p.E1561K|GPR98_uc003kjv.3_Missense_Mutation_p.E1455K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3855 Calx-beta 25. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.E3855K(4) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCTCATGCCGAAGTTTCCAT 0.313000 16 8 0 0 1 0 0 TSPYL2 64061 broad.mit.edu 37 X 53112065 53112065 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:53112065G>A uc004drw.3 + 0 524 c.385G>A c.(385-387)Gaa>Aaa p.E129K TSPYL2_uc004drv.3_Missense_Mutation_p.E129K|TSPYL2_uc004drx.1_5'Flank NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN Homo sapiens TSPY-like 2 (TSPYL2), mRNA. 129 cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 19 GGGGAGCCTGGAAATCGATTT 0.637000 21 5 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110100122 110100122 + Silent SNP C T T rs147178230 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:110100122C>T uc003ymz.4 + 0 470 c.381C>T c.(379-381)atC>atT p.I127I NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 127 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) ACATAGCAATCTGTCACCCCA 0.418000 35 17 0 0 1 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852291 20852291 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:20852291C>T uc021xmt.1 - 3 284 c.164_splice c.e3-1 p.N55_splice KCNIP4_uc003gqe.2_Splice_Site_p.D38_splice|KCNIP4_uc003gqf.1_Splice_Site_p.D34_splice|KCNIP4_uc003gqg.1_Splice_Site|KCNIP4_uc003gqh.1_Splice_Site_p.D30_splice|KCNIP4_uc003gqi.1_Splice_Site|KCNIP4_uc021xmu.1_Splice_Site_p.D21_splice|KCNIP4_uc021xms.1_Splice_Site_p.N18_splice NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 55 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCCACGCTGTCTGTGGAGGAA 0.498000 6 8 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40858189 40858189 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:40858189G>A uc010wgu.2 - 14 1729 c.1693C>T c.(1693-1695)Cct>Tct p.P565S EZH1_uc002iaz.3_Missense_Mutation_p.P559S|EZH1_uc002iba.3_Missense_Mutation_p.P550S|EZH1_uc010wgt.2_Missense_Mutation_p.P489S|EZH1_uc010wgv.2_Missense_Mutation_p.P519S|EZH1_uc010wgw.2_Missense_Mutation_p.P420S|EZH1_uc010cyp.2_Missense_Mutation_p.P460S|EZH1_uc010cyq.2_Missense_Mutation_p.P476S|EZH1_uc010cyo.1_Missense_Mutation_p.P222S NM_001991 NP_001982 Q92800 EZH1_HUMAN Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA. 559 Cys-rich. anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|chromatin binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) CGACAGCCAGGGAAACGATTC 0.507000 51 15 0 0 1 0 0 SLC29A3 55315 broad.mit.edu 37 10 73115924 73115924 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:73115924T>C uc001jrr.4 + 4 754 c.697T>C c.(697-699)Ttc>Ctc p.F233L SLC29A3_uc001jrs.4_Missense_Mutation_p.F233L|SLC29A3_uc010qjq.2_Missense_Mutation_p.F87L|SLC29A3_uc001jrt.4_Missense_Mutation_p.F27L NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA. 233 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CGCCCTGGCCTTCTTCCTGAC 0.607000 41 17 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28477476 28477476 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:28477476C>T uc009vte.3 - 2 392 c.57G>A c.(55-57)ccG>ccA p.P19P PTAFR_uc021ojz.1_Silent_p.P19P|PTAFR_uc001bpl.3_Silent_p.P19P|PTAFR_uc001bpm.4_Silent_p.P19P|PTAFR_uc021oka.1_Silent_p.P19P NM_001164721 NP_001158195 P25105 PTAFR_HUMAN Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA. 19 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) TGTAAACAATCGGGAAGAGAG 0.512000 22 14 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79939655 79939655 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:79939655G>A uc004edt.3 - 36 4350 c.4087C>T c.(4087-4089)Caa>Taa p.Q1363* BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.Q1192*|BRWD3_uc004edq.3_Nonsense_Mutation_p.Q959*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.Q959*|BRWD3_uc004edr.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004eds.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edo.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edu.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004edv.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edw.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edx.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edy.3_Nonsense_Mutation_p.Q959*|BRWD3_uc004edz.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004eea.3_Nonsense_Mutation_p.Q1033*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.Q959* NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1363 Bromo 2. breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 ATAACATCTTGATAATCCTAC 0.358000 27 6 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176719072 176719072 + Missense_Mutation SNP G C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:176719072G>C uc003mfr.4 + 21 6514 c.6376G>C c.(6376-6378)Gat>Cat p.D2126H NSD1_uc003mft.4_Missense_Mutation_p.D1857H|NSD1_uc011dfx.2_Missense_Mutation_p.D1774H|NSD1_uc021yip.1_5'UTR NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 2126 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TAGTTGTGGGGATGCTGGCCA 0.498000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 19 19 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49936668 49936668 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:49936668G>A uc003cxy.4 - 1 1523 c.1259C>T c.(1258-1260)aCc>aTc p.T420I MST1R_uc011bdc.2_Missense_Mutation_p.T420I|MST1R_uc011bdd.2_Missense_Mutation_p.T420I|MST1R_uc011bde.1_Missense_Mutation_p.T420I|MST1R_uc011bdf.1_Intron|MST1R_uc011bdg.2_Missense_Mutation_p.T420I NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 420 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GCGGCAGCTGGTGTTGGGGCT 0.592000 30 35 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19425358 19425358 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:19425358C>T uc022btq.1 - 12 1792 c.1792G>A c.(1792-1794)Gat>Aat p.D598N MAP3K15_uc004czj.2_Missense_Mutation_p.D33N|MAP3K15_uc004czk.2_Missense_Mutation_p.D73N NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 598 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TCAGAATTATCATGGACATAA 0.338000 33 12 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74008111 74008111 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:74008111G>A uc010wss.1 - 18 2727 c.2499C>T c.(2497-2499)tcC>tcT p.S833S EVPL_uc002jqi.2_Silent_p.S811S|EVPL_uc010wst.1_Silent_p.S281S NM_001988 NP_001979 Q92817 EVPL_HUMAN Homo sapiens envoplakin (EVPL), mRNA. 811 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCAGGGCCTGGGAGAGGTGGG 0.637000 12 5 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975799 152975799 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:152975799C>T uc021ozo.1 + 0 303 c.303C>T c.(301-303)gtC>gtT p.V101V SPRR3_uc001fax.4_Silent_p.V101V|SPRR3_uc001faz.4_Silent_p.V101V|SPRR3_uc001fay.2_Silent_p.V93V NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA. 101 14 X 8 AA approximate tandem repeats. Missing. keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTACCAAGGTCCCTGAGCCAG 0.582000 38 32 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143713800 143713800 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:143713800G>A uc010fnm.3 + 6 680 c.464G>A c.(463-465)cGa>cAa p.R155Q KYNU_uc002tvk.3_Missense_Mutation_p.R155Q|KYNU_uc002tvl.3_Missense_Mutation_p.R155Q NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 155 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) ACGCCAAAACGATATAAAATT 0.308000 23 11 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78440569 78440569 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:78440569G>A uc001ozl.4 - 21 3721 c.3258C>T c.(3256-3258)ttC>ttT p.F1086F NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1086 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 TCATGAGGTTGAAGGGGATGG 0.572000 24 12 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16287391 16287391 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:16287391G>A uc010gqp.2 - 0 547 c.495C>T c.(493-495)ttC>ttT p.F165F POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_5'UTR NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 165 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TCGGCTCCATGAAAGCGCTGT 0.592000 172 23 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528231 157528231 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:157528231C>T uc003qqp.3 + 18 5917 c.5917C>T c.(5917-5919)Cca>Tca p.P1973S ARID1B_uc003qqo.3_Missense_Mutation_p.P1986S|ARID1B_uc003qqn.3_Missense_Mutation_p.P2026S NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1973 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity p.R1972*(1) NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CCACGAGCATCCAGAGAGAAA 0.557000 59 21 0 0 1 0 0 PLG 5340 broad.mit.edu 37 6 161132162 161132162 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:161132162T>C uc003qtm.4 + 3 458 c.346T>C c.(346-348)Tcc>Ccc p.S116P PLG_uc021zhr.1_Missense_Mutation_p.S116P NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 116 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGGGACGATGTCCAAAACAAA 0.443000 30 17 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20403845 20403845 + Missense_Mutation SNP C T T rs146809169 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:20403845C>T uc001vwj.2 + 0 79 c.20C>T c.(19-21)tCg>tTg p.S7L NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACAAATGAATCGATGGTGTCT 0.348000 193 45 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18809378 18809378 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:18809378G>A uc001bax.3 + 0 1955 c.1903G>A c.(1903-1905)Gaa>Aaa p.E635K KLHDC7A_uc009vpg.3_Missense_Mutation_p.E417K NM_152375 NP_689588 Q5VTJ3 KLD7A_HUMAN Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA. 635 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GCGTGCCAAGGAAATCTTCGT 0.711000 9 8 0 0 1 0 0 CASS4 57091 broad.mit.edu 37 20 55026876 55026876 + Splice_Site SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:55026876G>A uc002xxp.2 + 6 868 c.643_splice c.e6-1 p.G215_splice CASS4_uc002xxq.4_Splice_Site_p.G215_splice|CASS4_uc010zze.1_Splice_Site_p.G161_splice|CASS4_uc002xxr.2_Splice_Site_p.G215_splice|CASS4_uc010gio.2_Intron NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 215 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 CTCCCACAGGGGCAGGGTGTT 0.502000 37 24 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22364054 22364054 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:22364054G>A uc002nqs.1 - 2 783 c.465C>T c.(463-465)caC>caT p.H155H NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTTGAGATAGGTGTGAAAGCA 0.318000 44 20 0 0 1 0 0 PTGDR 5729 broad.mit.edu 37 14 52734581 52734581 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:52734581G>A uc001wzq.3 + 0 151 c.49G>A c.(49-51)Ggc>Agc p.G17S NM_000953 NP_000944 Q13258 PD2R_HUMAN Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA. 17 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) TGTGGAAAAAGGCAACTCGGC 0.692000 11 7 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56585388 56585388 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:56585388C>T uc001xch.3 + 0 296 c.10C>T c.(10-12)Cct>Tct p.P4S NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA. 4 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 CATGTTTTCCCCTGGCCAGGA 0.726000 5 4 0 0 1 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527628 65527628 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:65527628G>A uc003xvj.2 - 3 1216 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 338 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGGTGGATGGGAAATCCAGAC 0.443000 58 26 0 0 1 0 0 C7orf60 154743 broad.mit.edu 37 7 112462247 112462247 + Nonsense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:112462247C>T uc011kms.1 - 5 975 c.848G>A c.(847-849)tGg>tAg p.W283* C7orf60_uc003vgo.1_Nonsense_Mutation_p.W257* NM_152556 NP_689769 Q1RMZ1 CG060_HUMAN Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA. 257 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 GCAGCAAATCCATCGCTGGTA 0.408000 29 19 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169528523 169528523 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:169528523C>T uc001ggg.1 - 4 743 c.598G>A c.(598-600)Gag>Aag p.E200K F5_uc010plr.1_Non-coding_Transcript NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 200 F5/8 type A 1. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTCCCACCCTCAGTTAGGGTC 0.448000 23 33 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4774808 4774808 + Silent SNP G C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:4774808G>C uc002cxj.2 - 5 811 c.516C>G c.(514-516)ccC>ccG p.P172P ANKS3_uc002cxi.2_Silent_p.P99P|ANKS3_uc021tcj.1_Silent_p.P43P|ANKS3_uc021tck.1_Silent_p.P65P|ANKS3_uc002cxk.3_Silent_p.P43P|ANKS3_uc010uxs.2_Silent_p.P99P|ANKS3_uc002cxm.3_Intron NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA. 172 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CTTCCATCAAGGGAGTAAATC 0.463000 25 6 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 148037939 148037939 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:148037939C>T uc004fcp.3 + 10 2843 c.2364C>T c.(2362-2364)atC>atT p.I788I AFF2_uc004fcq.3_Silent_p.I778I|AFF2_uc004fcr.3_Silent_p.I749I|AFF2_uc011mxb.2_Silent_p.I753I|AFF2_uc004fcs.3_Silent_p.I755I|AFF2_uc011mxc.2_Silent_p.I429I NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 788 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) AAACTGAAATCCTGTCCCCTC 0.468000 65 37 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18375751 18375751 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:18375751G>A uc010ebn.2 - 2 2815 c.2599C>T c.(2599-2601)Ccc>Tcc p.P867S KIAA1683_uc002nin.2_Missense_Mutation_p.P867S|KIAA1683_uc010xqe.1_Missense_Mutation_p.P821S NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 867 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 TCCTGGCAGGGCACCGCCTGG 0.647000 25 24 0 0 1 0 0 CCK 885 broad.mit.edu 37 3 42304946 42304946 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:42304946G>A uc021wwk.1 - 1 304 c.177C>T c.(175-177)ggC>ggT p.G59G CCK_uc003cld.1_Silent_p.G59G|CCK_uc011azk.1_Silent_p.G59G NM_001174138 NP_001167609 P06307 CCKN_HUMAN Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA. 59 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) CCAGCAGGGCGCCCAGGTGCG 0.667000 46 32 0 0 1 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6436547 6436547 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:6436547G>A uc001qnr.3 + 14 1946 c.1798G>A c.(1798-1800)Ggg>Agg p.G600R PLEKHG6_uc010sew.2_Missense_Mutation_p.G600R|PLEKHG6_uc010sex.2_Missense_Mutation_p.G568R NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 600 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.T599M(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 CACCCCCACGGGGTCCCGCTC 0.627000 115 60 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3007569 3007569 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:3007569C>T uc022brz.1 + 6 999 c.863C>T c.(862-864)tCc>tTc p.S288F ARSF_uc004cre.2_Missense_Mutation_p.S288F|ARSF_uc004crf.2_Missense_Mutation_p.S288F NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 288 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCTTTTTCTCCTTTCTTCAC 0.433000 92 31 0 0 1 0 0 LRRC33 375387 broad.mit.edu 37 3 196388349 196388349 + Missense_Mutation SNP C G G rs147587398 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:196388349C>G uc003fwv.3 + 2 1939 c.1835C>G c.(1834-1836)aCg>aGg p.T612R NM_198565 NP_940967 Q86YC3 LRC33_HUMAN Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA. 612 integral to membrane NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3) 40 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) CATGGGCAGACGGTGGCCGAC 0.637000 76 35 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4579795 4579795 + Missense_Mutation SNP C A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:4579795C>A uc002fyi.4 - 6 936 c.710G>T c.(709-711)tGt>tTt p.C237F PELP1_uc010vsf.2_Missense_Mutation_p.C90F NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 237 transcription, DNA-dependent MLL1 complex|cytoplasm protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 ATAACACTCACAGGCCAACTG 0.582000 27 7 1.26484e-09 1.28149e-09 1 1 0 FAM169B 283777 broad.mit.edu 37 15 98984307 98984307 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:98984307C>T uc002buk.1 - 5 702 c.452G>A c.(451-453)gGc>gAc p.G151D NM_182562 NP_872368 Q8N8A8 F169B_HUMAN Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA. 151 large_intestine(3)|lung(3)|urinary_tract(1) 7 TACCTTGCTGCCGTCTCCAGG 0.557000 27 18 0 0 1 0 0 APBA3 9546 broad.mit.edu 37 19 3759741 3759741 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:3759741G>A uc002lyp.1 - 1 699 c.522C>T c.(520-522)ccC>ccT p.P174P MRPL54_uc002lyq.4_5'Flank NM_004886 NP_004877 O96018 APBA3_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA. 174 intracellular signal transduction|protein transport intracellular|membrane protein binding endometrium(1)|large_intestine(1)|skin(1) 3 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCCAGCCAGGGTTCCGGGG 0.657000 22 17 0 0 1 0 0 NTHL1 4913 broad.mit.edu 37 16 2096347 2096348 + Missense_Mutation DNP GG AA AA TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:2096347_2096348GG>AA uc002col.1 - 1 178_179 c.159_160CC>TT c.(157-162)agcccc>agTTcc p.P54S TCRBV20S1_uc021tak.1_Intron NM_002528 NP_002519 P78549 NTHL1_HUMAN Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA. 54 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 CGCTTCACGGGGCTGTGGCTTT 0.624000 Base excision repair (BER), DNA glycosylases 48 26 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160829804 160829804 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:160829804G>A uc003qti.3 + 3 735 c.708G>A c.(706-708)tcG>tcA p.S236S SLC22A3_uc011efx.2_Non-coding_Transcript NM_021977 NP_068812 O75751 S22A3_HUMAN Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA. 236 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity p.S236*(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TAGTAGGTTCGAAACAAAGGA 0.403000 26 19 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113662424 113662424 + Missense_Mutation SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:113662424G>T uc003ynu.3 - 18 3318 c.3159C>A c.(3157-3159)aaC>aaA p.N1053K CSMD3_uc003yns.3_Missense_Mutation_p.N325K|CSMD3_uc003ynt.3_Missense_Mutation_p.N1013K|CSMD3_uc011lhx.2_Missense_Mutation_p.N949K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1053 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCACCAGTGGTTTTTTTCGC 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 51 30 6.05902e-23 6.19699e-23 1 1 0 FLNC 2318 broad.mit.edu 37 7 128484784 128484784 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:128484784G>A uc003vnz.4 + 20 3474 c.3265G>A c.(3265-3267)Ggg>Agg p.G1089R FLNC_uc003voa.4_Missense_Mutation_p.G1089R NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1089 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGACACCAAGGGGGCTGGCAC 0.632000 45 18 0 0 1 0 0 FLRT3 23767 broad.mit.edu 37 20 14306935 14306936 + Missense_Mutation DNP GG AA AA TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:14306935_14306936GG>AA uc021war.1 - 0 1217_1218 c.1217_1218CC>TT c.(1216-1218)ccc>cTT p.P406L MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P406L|FLRT3_uc002wow.2_Missense_Mutation_p.P406L NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA. 406 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) TTTTTCTTGAGGGACTCCCTGT 0.455000 132 47 0 0 1 0 0 ASMTL 8623 broad.mit.edu 37 X 1540589 1540589 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:1540589G>A uc004cpx.2 - 8 1344 c.1207C>T c.(1207-1209)Cac>Tac p.H403Y CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.H387Y|ASMTL_uc011mhe.2_Missense_Mutation_p.H327Y|ASMTL_uc011mhf.2_Missense_Mutation_p.H345Y NM_004192 NP_001166944 O95671 ASML_HUMAN Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA. 403 ASMT-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AACGCCCTGTGGTGCTGGTTT 0.507000 90 35 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7177235 7177235 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:7177235C>T uc001qsj.3 + 14 2066 c.1347C>T c.(1345-1347)ttC>ttT p.F449F C1S_uc001qsk.3_Silent_p.F449F|C1S_uc001qsl.3_Silent_p.F449F|C1S_uc009zfr.3_Silent_p.F282F|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 449 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTAAAAACTTCCCCTGGCAAG 0.483000 62 23 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 113999239 113999239 + Silent SNP T G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr13:113999239T>G uc010tkc.2 - 4 598 c.501A>C c.(499-501)atA>atC p.I167I GRTP1_uc001vtn.3_Silent_p.I167I|GRTP1_uc010tkb.2_Silent_p.I89I NM_024719 NP_078995 Q5TC63 GRTP1_HUMAN Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA. 167 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) CATTATTTGTTATAAGAATCA 0.353000 52 19 0 0 1 0 0 GSPT1 2935 broad.mit.edu 37 16 11990493 11990494 + Missense_Mutation DNP GG AA AA TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:11990493_11990494GG>AA uc010bux.3 - 3 854_855 c.171_172CC>TT c.(169-174)atccca>atTTca p.P58S GSPT1_uc002dbu.3_Missense_Mutation_p.P195S|GSPT1_uc002dbt.3_Missense_Mutation_p.P196S NM_001130007 NP_001123479 P15170 ERF3A_HUMAN Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA. 58 G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation intracellular GTP binding|GTPase activity|protein binding|translation release factor activity breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 14 TTAGGTTTTGGGATTTCCTCTT 0.485000 8 5 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17056388 17056388 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:17056388C>T uc002nfb.3 - 21 2937 c.2905G>A c.(2905-2907)Gat>Aat p.D969N NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 922 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CTGACGTGATCCACCCCGATG 0.592000 50 16 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64957105 64957105 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:64957105G>A uc004dwf.3 + 9 1354 c.1156G>A c.(1156-1158)Gct>Act p.A386T NM_002444 NP_002435 P26038 MOES_HUMAN Homo sapiens moesin (MSN), mRNA. 386 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 CCAGAGCGAGGCTGAAAAGCT 0.567000 T ALK ALCL 11 9 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662777 40662777 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:40662777C>T uc011aor.2 + 4 2754 c.2543C>T c.(2542-2544)cCa>cTa p.P848L TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.P848L|TNRC6B_uc003ayo.3_Missense_Mutation_p.P652L NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 848 Pro-rich. gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 CCACCACCTCCAGGCAACGTT 0.617000 29 9 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14859437 14859437 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:14859437G>A uc003zlm.3 - 4 1191 c.375C>T c.(373-375)gtC>gtT p.V125V FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 125 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) CCAGGAGATAGACCCACAGGA 0.403000 53 49 0 0 1 0 0 MCM8 84515 broad.mit.edu 37 20 5974946 5974946 + Splice_Site SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:5974946T>C uc002wmk.3 + 19 2928 c.2551_splice c.e19-1 p.V851_splice MCM8_uc002wmi.3_Splice_Site_p.V811_splice|MCM8_uc002wmj.3_Splice_Site_p.V795_splice|MCM8_uc002wml.3_Splice_Site_p.V811_splice|MCM8_uc010gbp.3_Splice_Site_p.V764_splice|MCM8_uc002wmm.3_Splice_Site_p.V349_splice NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA. 811 DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 TTCTTCCAGGTTGCTGATTTT 0.303000 23 14 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119927555 119927555 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:119927555C>T uc001ehr.1 + 3 572 c.440C>T c.(439-441)tCc>tTc p.S147F HAO2_uc001ehq.1_Missense_Mutation_p.S147F NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 147 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AGGGTAGAATCCCTAGGTTTC 0.463000 77 31 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54891739 54891739 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:54891739C>T uc002rxu.3 + 32 6819 c.6570C>T c.(6568-6570)gcC>gcT p.A2190A SPTBN1_uc010you.2_Silent_p.A180A NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 2190 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) CCTTACCAGCCAGAACCCAGG 0.582000 59 38 0 0 1 0 0 NXF5 55998 broad.mit.edu 37 X 101096500 101096500 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:101096500G>A uc011mrk.1 - 5 631 c.271C>T c.(271-273)Ccc>Tcc p.P91S 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 Q9H1B4 NXF5_HUMAN Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA. 91 RRM. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.P91H(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1) 30 ACAGAGTAGGGCGCAGTAAAA 0.473000 48 29 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2937962 2937962 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:2937962C>T uc002klo.3 - 6 1135 c.896G>A c.(895-897)cGg>cAg p.R299Q NM_014646 NP_055461 Q92539 LPIN2_HUMAN Homo sapiens lipin 2 (LPIN2), mRNA. 299 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) GGGAATTACCCGAAAATGAGT 0.413000 73 26 0 0 1 0 0 UGT1A1 54658 broad.mit.edu 37 2 234581341 234581341 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:234581341G>A uc002vus.3 + 0 798 c.761G>A c.(760-762)cGa>cAa p.R254Q UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R254Q NM_021027 NP_066307 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA. 257 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.R254Q(1) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TGGTTGTTGCGAACGGACTTT 0.443000 190 85 0 0 1 0 0 CNR1 1268 broad.mit.edu 37 6 88854655 88854655 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:88854655G>A uc010kbz.3 - 1 469 c.339C>T c.(337-339)ccC>ccT p.P113P CNR1_uc011dzr.2_Silent_p.P113P|CNR1_uc011dzs.2_Silent_p.P113P|CNR1_uc003pmq.4_Silent_p.P113P|CNR1_uc011dzt.2_Silent_p.P113P|CNR1_uc010kca.3_Silent_p.P80P|CNR1_uc021zco.1_Silent_p.P113P NM_016083 NP_057167 P21554 CNR1_HUMAN Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA. 113 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GCTGCTGGCTGGGGTTCAGGA 0.552000 24 18 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69881390 69881390 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:69881390C>T uc001jnm.4 + 2 380 c.195C>T c.(193-195)gcC>gcT p.A65A MYPN_uc001jnl.1_Silent_p.A65A|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Silent_p.A65A|MYPN_uc001jnp.1_Silent_p.A65A|MYPN_uc009xps.3_Silent_p.A65A|MYPN_uc009xpt.3_Silent_p.A65A|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript NM_032578 NP_115967 Q86TC9 MYPN_HUMAN Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA. 65 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 ATCTTTCAGCCTTTCTGAGCC 0.522000 25 15 0 0 1 0 0 LAGE3 8270 broad.mit.edu 37 X 153706645 153706645 + Silent SNP T G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:153706645T>G uc004fln.1 - 1 636 c.294A>C c.(292-294)acA>acC p.T98T NM_006014 NP_006005 Q14657 LAGE3_HUMAN Homo sapiens L antigen family, member 3 (LAGE3), mRNA. 98 protein binding lung(2) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCACTCACTGTGAGATCCT 0.617000 64 40 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24958885 24958885 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:24958885G>A uc002dnb.3 - 13 1252 c.1159C>T c.(1159-1161)Cag>Tag p.Q387* ARHGAP17_uc002dna.3_Nonsense_Mutation_p.Q114*|ARHGAP17_uc002dnc.3_Nonsense_Mutation_p.Q387*|ARHGAP17_uc010vcf.2_Nonsense_Mutation_p.Q208* NM_001006634 NP_001006635 Q68EM7 RHG17_HUMAN Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. 387 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) TCGCTGGTCTGAGCAAGCTTT 0.453000 35 19 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56031307 56031307 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:56031307C>T uc010spq.2 + 0 632 c.632C>T c.(631-633)cCc>cTc p.P211L NM_206899 NP_996782 Q8NGE3 O10P1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA. 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 ATTATGATCCCCTTCTCTCTG 0.557000 39 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9076539 9076539 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:9076539G>A uc002mkp.3 - 2 11111 c.10907C>T c.(10906-10908)aCt>aTt p.T3636I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3637 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCCAATGACAGTTATACGGCC 0.448000 31 15 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3446837 3446837 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:3446837C>T uc002fvr.2 - 4 719 c.397G>A c.(397-399)Gag>Aag p.E133K TRPV3_uc010vrh.1_Missense_Mutation_p.E117K|TRPV3_uc010vri.1_Missense_Mutation_p.E88K|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E133K|TRPV3_uc010vrj.1_Missense_Mutation_p.E117K|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.E117K|TRPV3_uc002fvu.3_Missense_Mutation_p.E133K NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA. 133 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) ACCAACTCCTCCACGCAGCCC 0.587000 75 47 0 0 1 0 0 SPIN1 10927 broad.mit.edu 37 9 91063862 91063862 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:91063862C>T uc010mqj.3 + 2 559 c.59C>T c.(58-60)gCt>gTt p.A20V SPIN1_uc004apy.3_Missense_Mutation_p.A20V|SPIN1_uc004apz.3_Missense_Mutation_p.A20V|SPIN1_uc010mqk.3_Missense_Mutation_p.A20V NM_006717 NP_006708 Q9Y657 SPIN1_HUMAN Homo sapiens spindlin 1 (SPIN1), mRNA. 20 cell cycle|gamete generation|multicellular organismal development nucleus methylated histone residue binding endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 4 ACAGGCCATGCTGGAGTATCT 0.388000 31 3 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8396274 8396274 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:8396274C>T uc002glm.3 - 32 4374 c.4278G>A c.(4276-4278)aaG>aaA p.K1426K MYH10_uc002gll.3_Silent_p.K1395K|MYH10_uc010cnx.3_Silent_p.K1404K NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1395 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCAGAAGCTTCTTCTTGGCTT 0.522000 78 29 0 0 1 0 0 PLA1A 51365 broad.mit.edu 37 3 119328329 119328329 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:119328329G>A uc003ecu.3 + 3 534 c.468G>A c.(466-468)tcG>tcA p.S156S PLA1A_uc003ecv.3_Silent_p.S140S|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript NM_015900 NP_001193890 Q53H76 PLA1A_HUMAN Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA. 156 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 TGGGTGTGTCGGAATCCTCAA 0.582000 89 33 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223828 67223828 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:67223828G>A uc001olo.3 + 2 533 c.456G>A c.(454-456)cgG>cgA p.R152R CABP4_uc001oln.3_Silent_p.R47R NM_145200 NP_660201 P57796 CABP4_HUMAN Homo sapiens calcium binding protein 4 (CABP4), mRNA. 152 EF-hand 1. visual perception cytoplasm|extracellular region|terminal button calcium ion binding p.R152Q(1) central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) TCAGCCACCGGGAGCTGGGTG 0.637000 52 23 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465432 77465432 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:77465432C>T uc002ffc.4 - 2 674 c.255G>A c.(253-255)agG>agA p.R85R ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 85 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ATCGCTTTTTCCTGCCGTTGT 0.478000 150 108 0 0 1 0 0 LOC440905 440905 broad.mit.edu 37 2 130792756 130792756 + RNA SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:130792756G>A uc002tpz.2 - 7 c.2573C>T Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA. GAGATTGACGGCTGTATCACC 0.473000 24 8 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449255 104449255 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:104449255G>A uc004bbp.2 - 1 1528 c.927C>T c.(925-927)agC>agT p.S309S GRIN3A_uc004bbq.1_Silent_p.S309S NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 309 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TCTGTAGGAAGCTCAAGAGGT 0.483000 19 19 0 0 1 0 0 ARMC2 84071 broad.mit.edu 37 6 109190187 109190187 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:109190187C>T uc003pss.4 + 3 626 c.452C>T c.(451-453)cCt>cTt p.P151L ARMC2_uc011eao.2_5'UTR NM_032131 NP_115507 Q8NEN0 ARMC2_HUMAN Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA. 151 binding endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1) 24 all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11) Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434) AGATCCCTTCCTCCCTCCGAC 0.512000 54 20 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73850273 73850273 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:73850273C>T uc003xzb.3 + 2 3271 c.2683C>T c.(2683-2685)Cat>Tat p.H895Y NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 895 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CCCAGAAATTCATTCCAACCC 0.398000 72 36 0 0 1 0 0 USP17L2 377630 broad.mit.edu 37 8 11994698 11994698 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:11994698C>T uc003wvc.1 - 0 1572 c.1572G>A c.(1570-1572)agG>agA p.R524R LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA. 524 G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 CAAGCAGAGCCCTCTTGCTGT 0.582000 71 15 0 0 1 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835011 27835011 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:27835011G>A uc003njx.3 - 0 349 c.297C>T c.(295-297)acC>acT p.T99T NM_005322 NP_005313 P16401 H15_HUMAN Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA. 99 H15. nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CAGTGCCCTTGGTCTGCACCA 0.582000 143 55 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769190 37769190 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:37769190C>T uc003asq.4 - 2 3171 c.2385G>A c.(2383-2385)aaG>aaA p.K795K ELFN2_uc021wph.1_Silent_p.K795K NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 795 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGAACTGGACCTTCTTGCGCA 0.622000 63 27 0 0 1 0 0 MDH1B 130752 broad.mit.edu 37 2 207621695 207621696 + Missense_Mutation DNP CC TT TT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:207621695_207621696CC>TT uc002vbs.3 - 3 394_395 c.339_340GG>AA c.(337-342)ggggca>ggAAca p.A114T MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.A114T|MDH1B_uc021vvm.1_Missense_Mutation_p.A16T NM_001039845 NP_001034934 Q5I0G3 MDH1B_HUMAN Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA. 114 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TCTATATGTGCCCCCAGGTTCT 0.441000 52 20 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 110015347 110015347 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:110015347C>T uc010ywt.1 + 3 1247 c.1247C>T c.(1246-1248)gCc>gTc p.A416V NM_001099289 NP_001092759 Q8TEJ3 SH3R3_HUMAN Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA. 416 zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GATCCCCGAGCCGCGGCCAGG 0.627000 18 8 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7639546 7639546 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:7639546G>A uc001qsz.3 - 8 2215 c.2087C>T c.(2086-2088)tCg>tTg p.S696L CD163_uc001qta.3_Missense_Mutation_p.S696L|CD163_uc009zfw.2_Missense_Mutation_p.S729L NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 696 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity p.S696L(2) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GCCCAAAGACGATGAATTGCA 0.438000 24 8 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20123506 20123506 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:20123506G>A uc002wru.3 + 8 979 c.865G>A c.(865-867)Gag>Aag p.E289K C20orf26_uc010gcw.2_Missense_Mutation_p.E243K|C20orf26_uc010zse.2_Missense_Mutation_p.E289K|C20orf26_uc010zsf.1_Missense_Mutation_p.E289K NM_015585 NP_056400 Q8NHU2 CT026_HUMAN Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA. 289 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CAAAGATGCTGAGCTCAGGAG 0.418000 7 3 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030268 44030268 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:44030268G>A uc002lcb.1 + 4 676 c.625G>A c.(625-627)Gaa>Aaa p.E209K RNF165_uc002lby.1_Missense_Mutation_p.E142K|RNF165_uc010dnn.1_Missense_Mutation_p.E5K NM_152470 NP_689683 Q6ZSG1 RN165_HUMAN Homo sapiens ring finger protein 165 (RNF165), mRNA. 209 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GGTCGTCCATGAAATCCGAAA 0.517000 44 33 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189584510 189584510 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:189584510G>A uc003fry.2 + 5 895 c.806G>A c.(805-807)gGg>gAg p.G269E TP63_uc003frx.2_Missense_Mutation_p.G269E|TP63_uc003frz.2_Missense_Mutation_p.G269E|TP63_uc010hzc.1_Missense_Mutation_p.G269E|TP63_uc003fsa.2_Missense_Mutation_p.G175E|TP63_uc003fsb.2_Missense_Mutation_p.G175E|TP63_uc003fsc.2_Missense_Mutation_p.G175E|TP63_uc003fsd.2_Missense_Mutation_p.G175E|TP63_uc021xir.1_Missense_Mutation_p.G175E|TP63_uc010hzd.1_Missense_Mutation_p.G90E|TP63_uc003fse.1_Missense_Mutation_p.G150E NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 269 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G269V(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CGAGTAGAGGGGAACAGCCAT 0.408000 HNSCC(45;0.13) 39 22 0 0 1 0 0 PSG5 5673 broad.mit.edu 37 19 43689253 43689253 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:43689253C>T uc002ovu.3 - 1 242 c.111G>A c.(109-111)acG>acA p.T37T PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.T37T NM_002781 NP_002772 Q15238 PSG5_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA. 37 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGGCTTCAATCGTGACTTGAG 0.468000 133 57 0 0 1 0 0 EEF1G 1937 broad.mit.edu 37 11 62327156 62327156 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:62327156T>C uc001ntm.1 - 9 1455 c.1309A>G c.(1309-1311)Aag>Gag p.K437E EEF1G_uc010rlw.1_Missense_Mutation_p.K487E NM_001404 NP_001395 P26641 EF1G_HUMAN Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA. 437 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GATGTTCACTTGAAGATCTTG 0.547000 18 7 0 0 1 0 0 SERTAD4 56256 broad.mit.edu 37 1 210415509 210415509 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:210415509G>A uc001hhy.3 + 3 1077 c.898G>A c.(898-900)Gaa>Aaa p.E300K SERTAD4_uc009xcw.3_Missense_Mutation_p.E300K NM_019605 NP_062551 Q9NUC0 SRTD4_HUMAN Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA. 300 protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127) CCTCAGCCACGAACCTGTGGG 0.398000 20 32 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506360 11506360 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:11506360C>T uc001qzw.1 - 3 711 c.674G>A c.(673-675)gGa>gAa p.G225E PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 287 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTGGTTGCCTCCTTGTGGGGG 0.612000 236 30 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69028074 69028074 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:69028074G>A uc003xxv.1 + 25 3260 c.3233G>A c.(3232-3234)gGa>gAa p.G1078E NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1078 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AATGAGAAGGGAGAAAGAAAC 0.393000 51 33 0 0 1 0 0 SMAD6 4091 broad.mit.edu 37 15 67073822 67073822 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:67073822C>T uc002aqf.3 + 3 2363 c.1440C>T c.(1438-1440)ttC>ttT p.F480F SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.F219F NM_005585 NP_005576 O43541 SMAD6_HUMAN Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA. 480 MH2. BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 CCCGGCAGTTCATCACCTCCT 0.731000 10 7 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117529513 117529513 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:117529513C>T uc001egv.1 + 8 2701 c.2564C>T c.(2563-2565)tCc>tTc p.S855F NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA. 855 Golgi apparatus|endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) TACTGCAGCTCCCACTGGTGT 0.617000 96 37 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7586232 7586232 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:7586232C>T uc010sge.2 - 2 209 c.183G>A c.(181-183)gtG>gtA p.V61V CD163L1_uc001qsy.3_Silent_p.V61V NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 61 SRCR 1. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 ATTTCACCTCCACTGTCCCAG 0.483000 69 36 0 0 1 0 0 DUSP4 1846 broad.mit.edu 37 8 29194636 29194636 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:29194636G>A uc003xhm.3 - 3 1564 c.1092C>T c.(1090-1092)ttC>ttT p.F364F DUSP4_uc003xhl.3_Silent_p.F273F NM_001394 NP_001385 Q13115 DUS4_HUMAN Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA. 364 Tyrosine-protein phosphatase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity endometrium(1)|large_intestine(1)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) AGCTGAAGACGAACTGCGAGG 0.701000 13 3 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139269000 139269000 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:139269000C>T uc003yuy.3 - 4 471 c.300G>A c.(298-300)atG>atA p.M100I FAM135B_uc003yux.3_Missense_Mutation_p.M1I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 100 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTGCGTCTTCCATCTGCAAAA 0.393000 HNSCC(54;0.14) 15 9 0 0 1 0 0 CGGBP1 8545 broad.mit.edu 37 3 88104856 88104856 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:88104856G>A uc003dqs.3 - 3 783 c.271C>T c.(271-273)Cag>Tag p.Q91* CGGBP1_uc003dqt.3_Nonsense_Mutation_p.Q91*|CGGBP1_uc003dqu.3_Nonsense_Mutation_p.Q91*|CGGBP1_uc021xbe.1_Nonsense_Mutation_p.Q91* NM_001008390 NP_003654 Q9UFW8 CGBP1_HUMAN Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA. 91 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) CTGTTGCACTGAAGAGATGCA 0.468000 47 26 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34182069 34182069 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:34182069C>T uc001bxm.1 - 19 3211 c.3034G>A c.(3034-3036)Gaa>Aaa p.E1012K CSMD2_uc001bxn.1_Missense_Mutation_p.E972K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 972 CUB 6. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGCCACTTTCCAGGTGGAAG 0.577000 11 13 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51664814 51664814 + Missense_Mutation SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:51664814G>T uc011bdt.2 + 5 817 c.692G>T c.(691-693)gGt>gTt p.G231V RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'UTR NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA. 231 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GAAGAGAAGGGTGGCACCCAT 0.517000 20 11 3.86212e-05 3.88374e-05 1 1 0 ANKRD11 29123 broad.mit.edu 37 16 89348012 89348012 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:89348012G>A uc002fmx.1 - 8 5399 c.4938C>T c.(4936-4938)gaC>gaT p.D1646D ANKRD11_uc002fmy.1_Silent_p.D1646D|ANKRD11_uc002fnc.1_Silent_p.D1646D|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.D1603D NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 1646 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TAAATGGAGGGTCCAGCCCCG 0.567000 70 80 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76556123 76556123 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:76556123C>T uc002fex.1 + 15 2872 c.2733C>T c.(2731-2733)gtC>gtT p.V911V CNTNAP4_uc002feu.1_Silent_p.V907V|CNTNAP4_uc002fev.1_Silent_p.V772V|CNTNAP4_uc010chb.1_Silent_p.V835V NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 908 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ATGGGCATGTCCTGTTACAGC 0.463000 26 15 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164783091 164783091 + Nonsense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:164783091C>T uc003fei.3 - 6 828 c.765G>A c.(763-765)tgG>tgA p.W255* NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 255 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GCCATGTTTTCCAGGATAAAT 0.338000 HNSCC(35;0.089) 35 7 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219875372 219875372 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:219875372C>T uc002vjl.1 - 25 4288 c.4204G>A c.(4204-4206)Gga>Aga p.G1402R NM_194302 NP_919278 Q6ZU64 CC108_HUMAN Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA. 1402 integral to membrane structural molecule activity p.Q1401K(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TAGCCCACTCCCTGGAAGTGG 0.602000 18 5 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24192166 24192166 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:24192166G>A uc002dmd.3 + 12 1647 c.1450G>A c.(1450-1452)Gat>Aat p.D484N PRKCB_uc002dme.3_Missense_Mutation_p.D484N NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 484 Protein kinase. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CAAGATTGCCGATTTTGGCAT 0.468000 67 29 0 0 1 0 0 ARID3B 10620 broad.mit.edu 37 15 74883678 74883678 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:74883678C>T uc002aye.3 + 5 1269 c.1068C>T c.(1066-1068)tcC>tcT p.S356S ARID3B_uc002ayd.3_Silent_p.S356S|ARID3B_uc010bjs.1_Silent_p.S61S NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA. 356 Interaction with RB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 CCCTTCTCTCCCCACCCAAGA 0.642000 88 44 0 0 1 0 0 OXCT2 64064 broad.mit.edu 37 1 40236170 40236170 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:40236170G>A uc001ceb.1 - 0 851 c.758C>T c.(757-759)gCt>gTt p.A253V BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA. 253 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) TGGGGGGAAAGCCCCCACCTC 0.522000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 59 22 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169340516 169340516 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:169340516G>A uc021xuh.1 - 17 2657 c.2547C>T c.(2545-2547)atC>atT p.I849I DDX60L_uc003irq.4_Silent_p.I849I|DDX60L_uc003irr.1_Silent_p.I849I|DDX60L_uc003irs.1_Intron NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 849 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CAAGCAACAGGATTTCAAAAC 0.358000 1 2 0 0 1 0 0 PTPRU 10076 broad.mit.edu 37 1 29609361 29609361 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:29609361C>T uc001bru.3 + 11 2171 c.2042C>T c.(2041-2043)aCc>aTc p.T681I PTPRU_uc009vtq.3_Missense_Mutation_p.T681I|PTPRU_uc009vtr.3_Missense_Mutation_p.T681I|PTPRU_uc001brw.3_Missense_Mutation_p.T681I NM_005704 NP_005695 Q92729 PTPRU_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA. 681 canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 79 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ATGCCCTTTACCGTGGGTGAC 0.622000 57 29 0 0 1 0 0 KIAA0195 9772 broad.mit.edu 37 17 73492378 73492378 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:73492378C>T uc010wsa.2 + 22 3291 c.3099C>T c.(3097-3099)ccC>ccT p.P1033P KIAA0195_uc002jnz.4_Silent_p.P1023P|KIAA0195_uc010wsb.2_Silent_p.P663P|KIAA0195_uc002job.4_Silent_p.P31P NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 1023 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism p.T1033I(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCTGGATCCCCTGTACCCAT 0.632000 42 23 0 0 1 0 0 MMP12 4321 broad.mit.edu 37 11 102737122 102737122 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:102737122G>A uc001phk.3 - 7 1063 c.966C>T c.(964-966)tcC>tcT p.S322S NM_002426 NP_002417 P39900 MMP12_HUMAN Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA. 323 Hemopexin-like 1. positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TTGGCCATAAGGAAGAAATTA 0.358000 7 5 0 0 1 0 0 MORF4L2 9643 broad.mit.edu 37 X 102931922 102931922 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:102931922C>T uc022cbw.1 - 0 34 c.34G>A c.(34-36)Gga>Aga p.G12R MORF4L2_uc004ekw.3_Missense_Mutation_p.G12R|MORF4L2_uc004ela.3_Missense_Mutation_p.G12R|MORF4L2_uc004elb.3_Missense_Mutation_p.G12R|MORF4L2_uc004ekx.3_Missense_Mutation_p.G12R|MORF4L2_uc004eky.3_Missense_Mutation_p.G12R|MORF4L2_uc010nos.3_Missense_Mutation_p.G12R|MORF4L2_uc004ekz.3_Missense_Mutation_p.G12R|MORF4L2_uc011mry.2_Missense_Mutation_p.G12R|MORF4L2_uc011mrz.2_Missense_Mutation_p.G12R|MORF4L2_uc004elc.3_Missense_Mutation_p.G12R|MORF4L2_uc004ele.3_Missense_Mutation_p.G12R|MORF4L2_uc004elf.3_Missense_Mutation_p.G12R|MORF4L2_uc011msa.2_Missense_Mutation_p.G12R|MORF4L2_uc011msb.2_Missense_Mutation_p.G12R|MORF4L2_uc011msc.2_Missense_Mutation_p.G12R|MORF4L2_uc011msd.2_Missense_Mutation_p.G12R|MORF4L2_uc004eld.3_Missense_Mutation_p.G12R NM_012286 NP_036418 Q15014 MO4L2_HUMAN Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA. 12 DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7) 13 GATTGCTGTCCACGAGGTTGA 0.403000 115 44 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48256147 48256147 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:48256147G>A uc002lev.3 + 5 2687 c.1687G>A c.(1687-1689)Gac>Aac p.D563N MAPK4_uc010xdm.2_Missense_Mutation_p.D352N|MAPK4_uc010doz.3_3'UTR NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 563 cell cycle ATP binding|MAP kinase activity p.D563H(1) lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) TAAACTGGGCGACCTCAATGG 0.672000 17 5 0 0 1 0 0 RHCG 51458 broad.mit.edu 37 15 90020401 90020401 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:90020401C>T uc002bnz.2 - 7 1173 c.1149G>A c.(1147-1149)ggG>ggA p.G383G RHCG_uc002boa.2_Non-coding_Transcript NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Homo sapiens Rh family, C glycoprotein (RHCG), mRNA. 383 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) CGGTCCAGTCCCCGTTGAAAC 0.562000 75 33 0 0 1 0 0 ADAM12 8038 broad.mit.edu 37 10 127824173 127824173 + Silent SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:127824173G>T uc001ljk.2 - 4 818 c.405C>A c.(403-405)ctC>ctA p.L135L ADAM12_uc010qul.1_Silent_p.L132L|ADAM12_uc001ljm.3_Silent_p.L135L|ADAM12_uc001ljn.3_Silent_p.L132L|ADAM12_uc001ljl.4_Silent_p.L132L NM_003474 NP_003465 O43184 ADA12_HUMAN Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA. 135 cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) AACACGTGCTGAGACTGACTG 0.488000 15 15 2.94398e-08 2.97712e-08 1 1 0 HLA-DQB2 3120 broad.mit.edu 37 6 32725559 32725559 + Missense_Mutation SNP C T T rs113761247 byFrequency TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:32725559C>T uc003obz.2 - 3 831 c.748G>A c.(748-750)Ggt>Agt p.G250S HLA-DQB2_uc003oby.4_Intron NM_001198858 NP_001185787 Q5SR06 Q5SR06_HUMAN Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA. 216 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response MHC class II protein complex|integral to membrane endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 CCTTTCTGACCCCTGTGACGG 0.552000 20 3 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52416420 52416420 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:52416420C>T uc011bef.2 + 49 8151 c.7890C>T c.(7888-7890)ctC>ctT p.L2630L DNAH1_uc003ddv.3_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 2630 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGGTCCTGCTCAAGGCGGGCC 0.582000 65 58 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35805668 35805669 + Splice_Site DNP GT AA AA rs5814 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:35805668_35805669GT>AA uc003zyd.3 + 13 2047 c.2047_splice c.e13+1 p.K683_splice NPR2_uc010mlb.3_Splice_Site_p.K659_splice NM_003995 NP_003986 P20594 ANPRB_HUMAN Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA. 683 Protein kinase. intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CTCTATGCCAGTGAGGCCCACC 0.525000 40 33 0 0 1 0 0 CATSPERG 57828 broad.mit.edu 37 19 38850120 38850120 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:38850120G>A uc002oih.4 + 13 1594 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K CATSPERG_uc002oig.4_Missense_Mutation_p.E463K|CATSPERG_uc002oif.4_Missense_Mutation_p.E143K|CATSPERG_uc010efw.3_Non-coding_Transcript NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA. 503 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.E503K(1)|p.Q502*(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2) 40 CTCTAACAAGGAAAACTTCAT 0.537000 32 12 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757077 56757077 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:56757077C>T uc010rjp.2 + 0 689 c.689C>T c.(688-690)tCt>tTt p.S230F NM_001005323 NP_001005323 Q8NH90 O5AK2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA. 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 AAAATGTCTTCTAGTGCAGGA 0.428000 72 32 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123105037 123105037 + Missense_Mutation SNP T G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:123105037T>G uc003vkn.3 - 9 2185 c.1608A>C c.(1606-1608)gaA>gaC p.E536D IQUB_uc003vko.3_Missense_Mutation_p.E536D|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.E536D NM_178827 NP_849149 Q8NA54 IQUB_HUMAN Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA. 536 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ATTCTAGAATTTCCTGAGTTA 0.318000 68 36 0 0 1 0 0 STAR 6770 broad.mit.edu 37 8 38003905 38003905 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:38003905C>T uc003xkv.1 - 3 631 c.367G>A c.(367-369)Gag>Aag p.E123K NM_000349 NP_000340 P49675 STAR_HUMAN Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA. 123 START. C21-steroid hormone biosynthetic process mitochondrial intermembrane space cholesterol transporter activity breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 Colorectal(12;0.000442) all_lung(54;0.0151)|Lung NSC(58;0.0295) READ - Rectum adenocarcinoma(644;0.188) ACCACGACCTCCAGCCGGAAC 0.547000 42 20 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110576366 110576366 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:110576366C>T uc004epd.3 - 3 1136 c.964G>A c.(964-966)Gat>Aat p.D322N DCX_uc011msv.2_Missense_Mutation_p.D322N|DCX_uc004epe.3_Missense_Mutation_p.D241N|DCX_uc004epf.3_Missense_Mutation_p.D241N|DCX_uc004epg.3_Missense_Mutation_p.D241N NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 322 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 CCAAAGAAATCATGGAGACAA 0.398000 26 11 0 0 1 0 0 METTL22 79091 broad.mit.edu 37 16 8729062 8729062 + Missense_Mutation SNP T G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:8729062T>G uc002cyz.3 + 4 869 c.593T>G c.(592-594)cTg>cGg p.L198R METTL22_uc021tcq.1_Non-coding_Transcript NM_024109 NP_077014 Q9BUU2 MET22_HUMAN Homo sapiens methyltransferase like 22 (METTL22), mRNA. 198 methyltransferase activity large_intestine(5)|lung(4) 9 GACTACATCCTGTTCCGACAG 0.647000 33 30 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63444798 63444798 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:63444798C>T uc011mou.2 - 9 1948 c.1858G>A c.(1858-1860)Gat>Aat p.D620N MTMR8_uc004dvq.2_Missense_Mutation_p.D236N|MTMR8_uc004dvr.2_Missense_Mutation_p.D245N NM_017677 NP_060147 Q96EF0 MTMR8_HUMAN Homo sapiens myotubularin related protein 8 (MTMR8), mRNA. 0 nuclear envelope protein tyrosine phosphatase activity p.0?(2) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 GCACCAAAATCGATTAACAGC 0.502000 26 6 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49166461 49166461 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:49166461G>A uc003cwe.3 - 12 2022 c.1723C>T c.(1723-1725)Cga>Tga p.R575* LAMB2_uc003cwf.1_Nonsense_Mutation_p.R575* NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 575 Laminin IV type B. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity p.R575*(2) NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCTGCCCTCGGGTGTCCTCA 0.627000 27 27 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193907 60193907 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:60193907G>A uc001xen.1 - 2 1704 c.1495C>T c.(1495-1497)Cgg>Tgg p.R499W RTN1_uc001xem.1_Missense_Mutation_p.R79W NM_021136 NP_066959 Q16799 RTN1_HUMAN Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA. 499 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GTCTCCTCCCGGATGGCATCC 0.711000 8 4 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148982 34148982 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:34148982C>T uc004ddg.3 - 0 1466 c.1414G>A c.(1414-1416)Gag>Aag p.E472K NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 472 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 ACCTGAGTCTCGGGAGGCTGC 0.607000 57 27 0 0 1 0 0 GALNT8 26290 broad.mit.edu 37 12 4854623 4854623 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:4854623G>A uc001qne.1 + 4 981 c.889G>A c.(889-891)Gag>Aag p.E297K NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 297 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TCGGATTCAGGAGGACCGCAC 0.478000 29 19 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 156982 156982 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:156982G>A uc003jak.2 + 8 1425 c.1375G>A c.(1375-1377)Gag>Aag p.E459K NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 459 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCAGCAGCTGGAGCACCTCCG 0.657000 2 7 0 0 1 0 0 POT1 25913 broad.mit.edu 37 7 124532329 124532329 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:124532329T>C uc003vlm.3 - 5 716 c.115A>G c.(115-117)Aaa>Gaa p.K39E POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_5'UTR NM_015450 NP_001036059 Q9NUX5 POTE1_HUMAN Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA. 39 DNA binding. DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity p.K39E(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 47 CCAGTTCCTTTGCTTAGATAT 0.378000 120 54 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056850 9056850 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:9056850G>A uc002mkp.3 - 2 30800 c.30596C>T c.(30595-30597)tCc>tTc p.S10199F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10201 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCAGTCTTGGAACTCTGTAA 0.458000 39 14 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 42064803 42064803 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr21:42064803G>A uc002yyq.1 - 2 893 c.441C>T c.(439-441)atC>atT p.I147I DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 147 Ig-like C2-type 2. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCGAGGAGGGGATAATGCACT 0.532000 35 23 0 0 1 0 0 C2orf70 339778 broad.mit.edu 37 2 26802210 26802210 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:26802210C>T uc010eyn.3 + 3 510 c.510C>T c.(508-510)ccC>ccT p.P170P NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA. 170 breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 13 GACTAGCCCCCGAGAACCTGA 0.537000 29 16 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167754067 167754067 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:167754067G>A uc003qvs.1 + 2 767 c.679G>A c.(679-681)Gac>Aac p.D227N NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 227 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) AATTTTCAGTGACTTTAAAGA 0.398000 60 16 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149497317 149497317 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:149497317G>A uc003lro.3 - 21 3470 c.3001C>T c.(3001-3003)Ccc>Tcc p.P1001S PDGFRB_uc010jhd.3_Missense_Mutation_p.P840S NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 1001 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) GTGTCCAGGGGAGATCGGAGG 0.602000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 48 25 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83497758 83497758 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:83497758C>T uc001paj.2 - 12 1788 c.1485G>A c.(1483-1485)acG>acA p.T495T DLG2_uc001pai.2_Silent_p.T392T|DLG2_uc010rsy.1_Silent_p.T462T|DLG2_uc021qof.1_Silent_p.T534T|DLG2_uc010rsz.1_Silent_p.T495T|DLG2_uc010rta.1_Silent_p.T495T|DLG2_uc001pak.2_Silent_p.T600T|DLG2_uc010rtb.1_Silent_p.T462T|DLG2_uc001pal.1_Silent_p.T495T|DLG2_uc001pam.2_Silent_p.T534T NM_001364 NP_001355 Q15700 DLG2_HUMAN Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA. 495 PDZ 3. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) GTGCTATAATCGTCACTGTCT 0.453000 28 12 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460390 107460390 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:107460390C>T uc002tdq.3 - 1 163 c.44G>A c.(43-45)gGa>gAa p.G15E ST6GAL2_uc002tdr.3_Missense_Mutation_p.G15E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G15E NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 15 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 AGCGAATATTCCGAAAAGCAT 0.517000 26 16 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31487242 31487242 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:31487242C>T uc003ajl.2 + 9 1474 c.1233C>T c.(1231-1233)ccC>ccT p.P411P SMTN_uc003ajk.2_Silent_p.P411P|SMTN_uc003ajm.2_Silent_p.P411P|SMTN_uc011ale.2_Silent_p.P465P|SMTN_uc011alf.2_Silent_p.P467P|SMTN_uc003ajn.2_Silent_p.P403P|SMTN_uc011alg.2_5'UTR|SMTN_uc003ajo.2_5'Flank|SMTN_uc011alh.1_5'Flank|SMTN_uc010gwe.2_5'Flank NM_006932 NP_008863 P53814 SMTN_HUMAN Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA. 411 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GAAGCTGCCCCCAGGAGGAGG 0.697000 7 7 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703350 60703350 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:60703350C>T uc001nqi.3 + 10 2239 c.2046C>T c.(2044-2046)tcC>tcT p.S682S TMEM132A_uc001nqj.3_Silent_p.S681S NM_017870 NP_060340 Q24JP5 T132A_HUMAN Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA. 681 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 TGGCCCTCTCCCTATGGCTGT 0.622000 102 39 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23410852 23410852 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:23410852C>T uc004dal.4 + 2 1225 c.1217C>T c.(1216-1218)tCc>tTc p.S406F NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN Homo sapiens patched domain containing 1 (PTCHD1), mRNA. 406 SSD. cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 TGCTGCAATTCCTGTATTGCA 0.458000 54 33 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459497 56459497 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:56459497G>A uc002qmh.3 + 0 300 c.229G>A c.(229-231)Gag>Aag p.E77K NLRP8_uc010etg.3_Missense_Mutation_p.E77K NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 77 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GGACCAGGTCGAGACAGCCAG 0.532000 21 10 0 0 1 0 0 NLRP14 338323 broad.mit.edu 37 11 7070920 7070920 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:7070920C>T uc001mfb.1 + 5 2465 c.2142C>T c.(2140-2142)ttC>ttT p.F714F NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 714 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TTATCACTTTCCCTGATGGTT 0.358000 57 32 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1486953 1486953 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:1486953C>T uc002ltb.1 - 7 1029 c.967G>A c.(967-969)Ggc>Agc p.G323S PCSK4_uc002lta.2_Missense_Mutation_p.G135S NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. 323 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGTGCTGCCCACGGAAAGC 0.672000 68 19 0 0 1 0 0 RASSF9 9182 broad.mit.edu 37 12 86198969 86198969 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:86198969C>T uc001taf.1 - 1 1158 c.819G>A c.(817-819)ctG>ctA p.L273L NM_005447 NP_005438 O75901 RASF9_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA. 273 endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity p.R272*(1) endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGTAATATTTCAGTCGTTCTT 0.403000 55 30 0 0 1 0 0 TRIM65 201292 broad.mit.edu 37 17 73887210 73887210 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:73887210G>A uc002jpx.3 - 5 1240 c.1204C>T c.(1204-1206)Ccg>Tcg p.P402S NM_173547 NP_775818 Q6PJ69 TRI65_HUMAN Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA. 402 B30.2/SPRY. intracellular zinc ion binding endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCAGTTGCGGGTAGGAGACG 0.677000 57 23 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43903181 43903181 + Splice_Site SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:43903181A>G uc001zsf.3 - 14 3385 c.3307_splice c.e14-1 p.V1103_splice STRC_uc010bdl.3_Intron|STRC_uc001zse.3_5'UTR NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1103 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ACCATCTTTAACCTGCATGAG 0.502000 71 18 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685780 100685780 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:100685780C>T uc003uxp.1 + 2 11136 c.11083C>T c.(11083-11085)Cca>Tca p.P3695S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3695 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGAAGCACTCCATTAACAAC 0.522000 144 58 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130378612 130378613 + Missense_Mutation DNP GG AA AA TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:130378612_130378613GG>AA uc003qbt.3 + 8 905_906 c.729_730GG>AA c.(727-732)gcggtg>gcAAtg p.V244M L3MBTL3_uc003qbu.3_Missense_Mutation_p.V219M NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 244 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AGGAGAAAGCGGTGGCAGTGCC 0.525000 14 6 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48632595 48632595 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:48632595C>T uc002ird.3 + 15 2301 c.2160C>T c.(2158-2160)atC>atT p.I720I SPATA20_uc002irc.3_Silent_p.I371I|SPATA20_uc002ire.3_Silent_p.I660I|SPATA20_uc002irf.3_Silent_p.I704I|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 704 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCGGTCAGATCGTGATCTGTG 0.592000 22 10 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37879399 37879399 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:37879399G>A uc010efk.1 + 4 559 c.448G>A c.(448-450)Gtg>Atg p.V150M ZNF527_uc002ogf.3_Missense_Mutation_p.V118M|ZNF527_uc010xtq.1_Non-coding_Transcript NM_032453 NP_115829 Q8NB42 ZN527_HUMAN Homo sapiens zinc finger protein 527 (ZNF527), mRNA. 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTTCATGCAAGTGACAGCTGT 0.408000 48 14 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576655 158576655 + Nonsense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:158576655C>T uc010pio.2 + 0 427 c.427C>T c.(427-429)Cag>Tag p.Q143* NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) CCTCTGTGCCCAGCTGGTCAT 0.498000 27 45 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8396297 8396297 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:8396297C>T uc002glm.3 - 32 4351 c.4255G>A c.(4255-4257)Gaa>Aaa p.E1419K MYH10_uc002gll.3_Missense_Mutation_p.E1388K|MYH10_uc010cnx.3_Missense_Mutation_p.E1397K NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1388 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCAGACTTTCAATTGTTCCC 0.488000 75 31 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179956363 179956363 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:179956363C>T uc003mlx.3 + 1 436 c.87C>T c.(85-87)tcC>tcT p.S29S CNOT6_uc010jld.3_Silent_p.S29S|CNOT6_uc010jle.3_Silent_p.S29S NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA. 29 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|exonuclease activity|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GAAAGAAATCCCACTGGGCAG 0.398000 21 12 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641114 57641114 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:57641114C>T uc002qny.3 + 3 1427 c.1071C>T c.(1069-1071)gtC>gtT p.V357V USP29_uc021vci.1_Silent_p.V357V NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 357 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTAAAAAAGTCATTTCAGCAG 0.373000 53 27 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2464712 2464712 + Missense_Mutation SNP A C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:2464712A>C uc002wge.1 - 5 1383 c.895T>G c.(895-897)Tgc>Ggc p.C299G ZNF343_uc010gao.1_Missense_Mutation_p.C299G|ZNF343_uc002wgd.1_Missense_Mutation_p.C209G NM_024325 NP_077301 Q6P1L6 ZN343_HUMAN Homo sapiens zinc finger protein 343 (ZNF343), mRNA. 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V298L(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 CACTCACTGCACACATAAGGC 0.488000 42 18 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77221367 77221367 + Splice_Site SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:77221367G>A uc010xfg.2 + 7 2412 c.1959_splice c.e7+1 p.P653_splice NFATC1_uc002lnc.1_Splice_Site_p.P653_splice|NFATC1_uc010xff.1_Splice_Site_p.R625_splice|NFATC1_uc002lnd.3_Splice_Site_p.P653_splice|NFATC1_uc002lne.3_Splice_Site_p.P181_splice|NFATC1_uc010xfh.2_Splice_Site_p.P653_splice|NFATC1_uc010xfi.1_Splice_Site_p.P640_splice|NFATC1_uc010xfj.2_Splice_Site_p.P181_splice|NFATC1_uc002lnf.3_Splice_Site_p.P640_splice|NFATC1_uc002lng.3_Splice_Site_p.P640_splice|NFATC1_uc010xfk.2_Splice_Site_p.P640_splice NM_006162 NP_006153 O95644 NFAC1_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA. 653 intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.?(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) GTGCAAGCCGGTGAGTGCCTT 0.632000 34 8 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109365414 109365414 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:109365414T>C uc002tem.4 + 8 1228 c.1102T>C c.(1102-1104)Ttt>Ctt p.F368L NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 368 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CAAGCAAGATTTTTTAAAAGA 0.338000 120 80 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44949363 44949363 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:44949363C>T uc001ztx.3 - 3 830 c.799G>A c.(799-801)Gac>Aac p.D267N SPG11_uc010ueh.2_Missense_Mutation_p.D267N|SPG11_uc010uei.2_Missense_Mutation_p.D267N|SPG11_uc001zua.1_Missense_Mutation_p.D267N NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 267 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ACATCGAGGTCTTGAGAAACT 0.403000 22 19 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98586570 98586570 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:98586570C>T uc003upp.3 + 61 9793 c.9584C>T c.(9583-9585)tCg>tTg p.S3195L TRRAP_uc011kis.2_Missense_Mutation_p.S3166L|TRRAP_uc003upr.3_Missense_Mutation_p.S2883L NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3195 FAT. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GAGAGCAAATCGAGGAAATAC 0.502000 18 8 0 0 1 0 0 ZNF584 201514 broad.mit.edu 37 19 58928729 58928729 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:58928729C>T uc002qsp.3 + 3 1296 c.844C>T c.(844-846)Ctg>Ttg p.L282L ZNF584_uc010yia.2_Non-coding_Transcript|ZNF584_uc010yib.2_3'UTR NM_173548 NP_775819 Q8IVC4 ZN584_HUMAN Homo sapiens zinc finger protein 584 (ZNF584), mRNA. 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271) CTTCAGTGTTCTGTCTACCCT 0.438000 44 21 0 0 1 0 0 COPZ1 22818 broad.mit.edu 37 12 54741790 54741790 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:54741790C>T uc001sfs.1 + 6 439 c.402C>T c.(400-402)atC>atT p.I134I COPZ1_uc001sft.2_Silent_p.I83I|COPZ1_uc009znm.1_Silent_p.I142I|COPZ1_uc010sot.1_Silent_p.I111I NM_016057 NP_057141 P61923 COPZ1_HUMAN Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA. 134 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 GCAGGGTGATCCTAGAGAGTG 0.522000 18 19 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3675168 3675168 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:3675168G>A uc002wja.3 - 11 2956 c.2956C>T c.(2956-2958)Cac>Tac p.H986Y SIGLEC1_uc002wiz.4_Missense_Mutation_p.H986Y|SIGLEC1_uc002wjb.1_5'Flank NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 986 Ig-like C2-type 10. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 AGTGTGACGTGGCGTGGGGCA 0.662000 13 3 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107708574 107708574 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:107708574C>T uc010ljo.1 - 18 2417 c.2333G>A c.(2332-2334)gGa>gAa p.G778E LAMB4_uc003vey.2_Missense_Mutation_p.G778E NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 778 Laminin EGF-like 6. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GCAGCTGGATCCGACTGAGCC 0.552000 51 26 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237791283 237791283 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:237791283G>A uc001hyl.1 + 40 6463 c.6343G>A c.(6343-6345)Gac>Aac p.D2115N NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2115 4 X approximate repeats. 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 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) GTCCGTGGAGGACACCATCAA 0.532000 20 30 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23018229 23018229 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:23018229G>A uc004daj.3 + 0 152 c.55G>A c.(55-57)Ggg>Agg p.G19R NM_182699 NP_874358 Q86TM3 DDX53_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA. 19 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 AAGAGACCTTGGGGCCAGCTG 0.637000 15 11 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14181658 14181658 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:14181658G>A uc003wwq.3 - 2 950 c.290C>T c.(289-291)tCt>tTt p.S97F SGCZ_uc010lss.3_Intron NM_139167 NP_631906 Q96LD1 SGCZ_HUMAN Homo sapiens sarcoglycan, zeta (SGCZ), mRNA. 84 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TAGAAACTCAGATATACCTTC 0.348000 39 18 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39525628 39525628 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:39525628G>A uc003xni.3 + 13 1493 c.1438G>A c.(1438-1440)Ggc>Agc p.G480S ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G456S NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 480 Cys-rich. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) TGCATTGAATGGCCGTTTGTG 0.408000 94 44 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49671516 49671516 + Splice_Site SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:49671516G>A uc002pmw.3 + 5 557 c.449_splice c.e5-1 p.G150_splice TRPM4_uc010emu.3_Splice_Site_p.G150_splice|TRPM4_uc010yak.2_Splice_Site|TRPM4_uc002pmx.3_Splice_Site|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 150 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CGTCTGTGTAGGAGCCTGGAT 0.612000 62 35 0 0 1 0 0 CGGBP1 8545 broad.mit.edu 37 3 88104979 88104979 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:88104979G>A uc003dqs.3 - 3 660 c.148C>T c.(148-150)Ctg>Ttg p.L50L CGGBP1_uc003dqt.3_Silent_p.L50L|CGGBP1_uc003dqu.3_Silent_p.L50L|CGGBP1_uc021xbe.1_Silent_p.L50L NM_001008390 NP_003654 Q9UFW8 CGBP1_HUMAN Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA. 50 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding kidney(1)|large_intestine(2)|lung(2) 5 Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677) ACATGATTCAGAACCACATTG 0.458000 70 38 0 0 1 0 0 CUTC 51076 broad.mit.edu 37 10 101502996 101502996 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:101502996C>T uc001kqd.4 + 3 428 c.280C>T c.(280-282)Cgt>Tgt p.R94C CUTC_uc010qpk.2_Missense_Mutation_p.R94C|CUTC_uc001kqe.4_Non-coding_Transcript NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN Homo sapiens cutC copper transporter homolog (E. coli) (CUTC), mRNA. 94 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GTATTCAGATCGTGAAATTGA 0.433000 55 49 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178941917 178941917 + Missense_Mutation SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:178941917G>T uc003fjk.3 + 14 2393 c.2236G>T c.(2236-2238)Gat>Tat p.D746Y NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 746 T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGATTTCATGGATGCTCTACA 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 39 17 3.32936e-07 3.36053e-07 1 1 0 HGD 3081 broad.mit.edu 37 3 120360533 120360533 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:120360533G>A uc003edw.3 - 10 1242 c.782C>T c.(781-783)tCc>tTc p.S261F HGD_uc003edv.3_Missense_Mutation_p.S120F NM_000187 NP_000178 Q93099 HGD_HUMAN Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA. 261 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2) 25 GBM - Glioblastoma multiforme(114;0.158) ATTGAACGGGGAGACATCCTA 0.413000 44 20 0 0 1 0 0 FAM26E 254228 broad.mit.edu 37 6 116833183 116833183 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:116833183G>A uc003pwy.3 + 0 376 c.324G>A c.(322-324)ttG>ttA p.L108L BET3L_uc003pwx.3_Intron|BET3L_uc011ebh.2_Intron NM_153711 NP_714922 Q8N5C1 FA26E_HUMAN Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA. 108 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) TGAGCTCATTGGTGGCTCCAG 0.517000 32 16 0 0 1 0 0 LAIR2 3904 broad.mit.edu 37 19 55020268 55020268 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:55020268C>T uc002qgc.3 + 3 510 c.388C>T c.(388-390)Ccg>Tcg p.P130S LAIR2_uc002qgd.3_Intron|LAIR2_uc010erl.3_Silent_p.P98P NM_002288 NP_002279 Q6ISS4 LAIR2_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA. 130 extracellular region receptor activity central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1) 18 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0967) CCCGGACTCCCCGGACACAGA 0.627000 31 11 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132198655 132198655 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:132198655C>T uc001uja.1 + 1 398 c.258C>T c.(256-258)taC>taT p.Y86Y SFSWAP_uc010tbn.1_Silent_p.Y86Y|SFSWAP_uc001ujb.1_5'UTR|SFSWAP_uc001uiz.1_5'UTR NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 86 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 TTTCTGAGTACGATGCTGAGT 0.458000 32 19 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106348 55106348 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:55106348C>T uc002qgh.1 + 3 471 c.289C>T c.(289-291)Cgc>Tgc p.R97C LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R97C NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 97 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) AGGGCGGTATCGCTGTTTCTA 0.587000 49 33 0 0 1 0 0 CCDC82 79780 broad.mit.edu 37 11 96098255 96098255 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:96098255G>A uc001pfx.4 - 7 1483 c.1269C>T c.(1267-1269)tcC>tcT p.S423S CCDC82_uc009ywp.3_Silent_p.S423S|CCDC82_uc009ywr.3_Silent_p.S423S NM_024725 NP_079001 Q8N4S0 CCD82_HUMAN Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA. 423 protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) BRCA - Breast invasive adenocarcinoma(274;0.154) AAGCCTGGCAGGAACAGTTTT 0.328000 36 14 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50705414 50705414 + Nonsense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:50705414C>T uc002lfe.2 + 8 2117 c.1501C>T c.(1501-1503)Cga>Tga p.R501* DCC_uc010xdr.1_Nonsense_Mutation_p.R349*|DCC_uc010dpf.2_Nonsense_Mutation_p.R156* NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 501 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) GTACACCTTTCGAGTTGTGGC 0.507000 21 14 0 0 1 0 0 PSME3 10197 broad.mit.edu 37 17 40990965 40990965 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:40990965G>A uc002ibq.3 + 7 743 c.517G>A c.(517-519)Gaa>Aaa p.E173K PSME3_uc002ibp.3_Missense_Mutation_p.E99K|PSME3_uc002ibr.3_Missense_Mutation_p.E160K|PSME3_uc002ibs.3_Missense_Mutation_p.E171K|PSME3_uc010whd.2_Missense_Mutation_p.E47K NM_176863 NP_789839 P61289 PSME3_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA. 160 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction cytoplasm|nucleus|proteasome activator complex MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding NS(1)|cervix(1)|large_intestine(3)|lung(1) 6 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GTTTTAGGAGGAAACAGTTGC 0.488000 153 71 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219507638 219507638 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:219507638G>A uc002vin.3 - 7 4037 c.3601C>T c.(3601-3603)Cag>Tag p.Q1201* ZNF142_uc002vil.3_Nonsense_Mutation_p.Q1162*|ZNF142_uc010fvt.3_Nonsense_Mutation_p.Q1038*|ZNF142_uc002vim.3_Nonsense_Mutation_p.Q1038* NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 1201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) AAGGGGCACTGATGGGGCTTC 0.622000 56 22 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109384791 109384791 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:109384791C>T uc002tem.4 + 19 7922 c.7796C>T c.(7795-7797)tCc>tTc p.S2599F NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 2599 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CTCTTTGCTTCCTTTCCAACG 0.333000 145 49 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44864910 44864910 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:44864910G>A uc001ztx.3 - 32 6345 c.6314C>T c.(6313-6315)tCc>tTc p.S2105F SPG11_uc010bdw.3_Intron|SPG11_uc010ueh.2_Missense_Mutation_p.S1992F|SPG11_uc010uei.2_Missense_Mutation_p.S2105F NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 2105 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) GGGAACGGAGGAAATCTTATC 0.453000 45 19 0 0 1 0 0 OR13A1 79290 broad.mit.edu 37 10 45799175 45799175 + Silent SNP G A A rs146049499 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:45799175G>A uc001jcc.1 - 3 1005 c.696C>T c.(694-696)acC>acT p.T232T OR13A1_uc001jcd.1_Silent_p.T228T|OR13A1_uc021ppq.1_Silent_p.T232T NM_001004297 NP_001004297 Q8NGR1 O13A1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA. 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 AGGACGCGATGGTCATCAGGA 0.572000 42 4 0 0 1 0 0 NPAS3 64067 broad.mit.edu 37 14 33684474 33684474 + Missense_Mutation SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:33684474A>G uc001wru.3 + 2 291 c.227A>G c.(226-228)aAg>aGg p.K76R NPAS3_uc001wrs.3_Missense_Mutation_p.K46R|NPAS3_uc001wrv.3_Missense_Mutation_p.K46R|NPAS3_uc001wrt.3_Missense_Mutation_p.K46R|NPAS3_uc001wrw.3_5'UTR NM_001164749 NP_001158221 Q8IXF0 NPAS3_HUMAN Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA. 76 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GAATTGGCCAAGTTGTTGCCT 0.458000 62 28 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40001422 40001422 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:40001422C>T uc001rmb.2 - 2 1641 c.1215G>A c.(1213-1215)agG>agA p.R405R NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 405 fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 AAGACATAATCCTTTCAATAG 0.348000 40 28 0 0 1 0 0 NUDT7 283927 broad.mit.edu 37 16 77775565 77775566 + Silent DNP CC TT TT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:77775565_77775566CC>TT uc010chd.3 + 3 526_527 c.435_436CC>TT c.(433-438)ttcctg>ttTTtg p.145_146FL>FL NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Silent_p.130_131FL>FL|NUDT7_uc010vnj.2_Silent_p.92_93FL>FL NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA. 145 Nudix hydrolase. nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding p.L146L(1) breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1) 18 AGGATGTATTCCTGGTGCCTCT 0.431000 37 6 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85404081 85404081 + Missense_Mutation SNP G A A rs34326321 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:85404081G>A uc004eew.2 + 0 627 c.457G>A c.(457-459)Gaa>Aaa p.E153K DACH2_uc004eex.2_Missense_Mutation_p.E153K|DACH2_uc010nmq.2_5'UTR NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 153 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 GAAAGACTTCGAAACTTTGTT 0.577000 14 12 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36892022 36892022 + Missense_Mutation SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:36892022A>G uc003apn.4 - 5 1724 c.1616T>C c.(1615-1617)cTc>cCc p.L539P FOXRED2_uc003apm.4_Missense_Mutation_p.L91P|FOXRED2_uc003apo.4_Missense_Mutation_p.L539P|FOXRED2_uc003app.4_Missense_Mutation_p.L539P NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. 539 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 ACCGGTGGGGAGGTATCTATA 0.547000 70 36 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17370503 17370503 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:17370503G>A uc002nfs.1 - 5 920 c.807C>T c.(805-807)ctC>ctT p.L269L USHBP1_uc002nfr.1_5'Flank|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L205L|USHBP1_uc010eam.1_Silent_p.L197L NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 269 PDZ domain binding p.R268H(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 AATGGCTGCGGAGGCGCCGAA 0.577000 79 35 0 0 1 0 0 LAG3 3902 broad.mit.edu 37 12 6886538 6886538 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:6886538C>T uc001qqt.4 + 5 1515 c.1166C>T c.(1165-1167)tCc>tTc p.S389F LAG3_uc001qqu.3_Missense_Mutation_p.S219F NM_002286 NP_002277 P18627 LAG3_HUMAN Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA. 389 Ig-like C2-type 3. integral to membrane MHC class II protein binding|antigen binding p.S389P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 GACACCCCATCCCAGAGGAGT 0.572000 61 32 0 0 1 0 0 IFNA13 3447 broad.mit.edu 37 9 21367982 21367982 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:21367982T>A uc003zpa.2 - 0 94 c.28A>T c.(28-30)Atg>Ttg p.M10L NM_006900 NP_008831 P01562 IFNA1_HUMAN Homo sapiens interferon, alpha 13 (IFNA13), mRNA. 9 V -> A (in dbSNP:rs1758567). blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding p.A10A(1) breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1) 9 Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173) ACCAGGGCCATCAGTAAAGCA 0.552000 50 34 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10920136 10920136 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr21:10920136C>T uc002yip.1 - 18 1486 c.1118G>A c.(1117-1119)cGa>cAa p.R373Q TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R355Q|TPTE_uc002yir.1_Missense_Mutation_p.R335Q|TPTE_uc010gkv.1_Missense_Mutation_p.R235Q NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 373 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.Q372H(1)|p.Q372K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTATCTGTTCGCCTTTCTCC 0.383000 43 7 0 0 1 0 0 ASPHD2 57168 broad.mit.edu 37 22 26829806 26829806 + Silent SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:26829806T>C uc003acg.2 + 1 622 c.225T>C c.(223-225)tgT>tgC p.C75C NM_020437 NP_065170 Q6ICH7 ASPH2_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA. 75 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 TGTGGTACTGTTATCACGTGG 0.637000 69 28 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40887003 40887003 + Missense_Mutation SNP C A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:40887003C>A uc002onp.3 - 2 1180 c.895G>T c.(895-897)Gtg>Ttg p.V299L NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA. 299 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CGACTGGCCACACTGCCACCA 0.627000 38 17 2.35188e-11 2.38731e-11 1 1 0 GRIN3A 116443 broad.mit.edu 37 9 104499685 104499685 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:104499685C>T uc004bbp.2 - 0 1178 c.577G>A c.(577-579)Gtg>Atg p.V193M GRIN3A_uc004bbq.1_Missense_Mutation_p.V193M NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA. 193 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGCGCCGACACCCCTTGCACC 0.587000 25 23 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47283218 47283218 + Missense_Mutation SNP G C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:47283218G>C uc009ylm.3 + 5 1079 c.829G>C c.(829-831)Ggc>Cgc p.G277R NR1H3_uc010rhk.2_Missense_Mutation_p.G283R|NR1H3_uc009yll.2_Missense_Mutation_p.G283R|NR1H3_uc001nek.3_Missense_Mutation_p.G232R|NR1H3_uc001nen.4_Intron|NR1H3_uc001nem.3_Missense_Mutation_p.G277R NM_005693 NP_005684 Q13133 NR1H3_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA. 277 Ligand-binding (Potential). apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 ACAGCTACCCGGCTTCCTGCA 0.597000 31 18 0 0 1 0 0 C11orf80 79703 broad.mit.edu 37 11 66568121 66568121 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:66568121C>T uc021qmd.1 + 6 734 c.727C>T c.(727-729)Cat>Tat p.H243Y C11orf80_uc010rpk.2_Missense_Mutation_p.H77Y NM_024650 NP_078926 Q8N6T0 CK080_HUMAN Homo sapiens chromosome 11 open reading frame 80 (C11orf80), mRNA. 88 autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 GGTCAGATTTCATTTCAGTGT 0.353000 8 6 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46598352 46598352 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:46598352C>T uc009zkj.1 - 9 1353 c.668G>A c.(667-669)gGa>gAa p.G223E SLC38A1_uc001rpb.3_Missense_Mutation_p.G223E|SLC38A1_uc001rpc.3_Missense_Mutation_p.G223E|SLC38A1_uc001rpd.3_Missense_Mutation_p.G223E|SLC38A1_uc001rpe.3_Missense_Mutation_p.G223E|SLC38A1_uc010slh.2_Missense_Mutation_p.G196E|SLC38A1_uc001rpa.3_Missense_Mutation_p.G223E NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 223 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) CAAGGAAAATCCACTAGTATA 0.289000 38 38 0 0 1 0 0 CDK4 1019 broad.mit.edu 37 12 58145436 58145436 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:58145436T>A uc001spv.3 - 1 357 c.65A>T c.(64-66)aAg>aTg p.K22M CDK4_uc010ssb.2_5'UTR|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_Non-coding_Transcript NM_000075 NP_000066 P11802 CDK4_HUMAN Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA. 22 Protein kinase. G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding p.K22R(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) ATCACGGGCCTTGTACACTGT 0.557000 Mis melanoma Hereditary Melanoma 19 15 0 0 1 0 0 POTEH 23784 broad.mit.edu 37 22 16279248 16279248 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:16279248C>T uc010gqp.2 - 3 1027 c.975G>A c.(973-975)gtG>gtA p.V325V POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Silent_p.V44V|POTEH_uc002zlj.1_Silent_p.V160V NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA. 325 NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 TTAAAAATTTCACCACTTGCT 0.328000 384 17 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960920 73960920 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:73960920T>C uc004eby.3 - 2 4089 c.3472A>G c.(3472-3474)Aca>Gca p.T1158A NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 1158 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCATTAAATGTTGACAGGCAA 0.388000 57 25 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106452697 106452697 + RNA SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:106452697C>T uc021ser.1 - 2607 c.45263G>A Parts of antibodies, mostly variable regions. ACGGCCGTGTCGTCAGATCTC 0.557000 127 88 0 0 1 0 0 MMAA 166785 broad.mit.edu 37 4 146560479 146560479 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:146560479G>A uc003ikh.4 + 1 273 c.188G>A c.(187-189)aGa>aAa p.R63K MMAA_uc010iow.3_Non-coding_Transcript NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. 63 mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCTTAAAGAGAAAATTATGT 0.398000 34 34 0 0 1 0 0 CBWD5 220869 broad.mit.edu 37 9 70182149 70182149 + RNA SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:70182149G>A uc004afw.3 - 2 c.1963C>T Q5RIA9 CBWD5_HUMAN Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds. ATP binding all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18) CTGCTCAAAGGAGAATTGACT 0.388000 25 3 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28626770 28626770 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr13:28626770T>A uc001urw.3 - 4 608 c.526A>T c.(526-528)Atg>Ttg p.M176L FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.M176L NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 176 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.M176V(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGGTTTTCCATTTTTCTAAAG 0.408000 """Mis, O""" """AML, ALL""" 53 17 0 0 1 0 0 CCDC61 729440 broad.mit.edu 37 19 46498700 46498700 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:46498700C>T uc002pdw.3 + 1 98 c.98C>T c.(97-99)tCc>tTc p.S33F CCDC61_uc021uwd.1_5'UTR NM_001080402 NP_001073871 Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA. endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) AACGCCGGATCCTGGGGCGGG 0.622000 10 4 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25362155 25362155 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr13:25362155G>A uc001upr.3 + 6 682 c.641G>A c.(640-642)aGa>aAa p.R214K RNF17_uc010tdd.1_Missense_Mutation_p.R73K|RNF17_uc010tde.2_Missense_Mutation_p.R214K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R153K|RNF17_uc001upq.1_Missense_Mutation_p.R214K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 214 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GAATTTGCAAGAACTACTGAT 0.269000 35 14 0 0 1 0 0 SORBS3 10174 broad.mit.edu 37 8 22414247 22414247 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:22414247C>T uc003xbv.3 + 3 580 c.240C>T c.(238-240)acC>acT p.T80T SORBS3_uc011kzk.1_Non-coding_Transcript NM_005775 NP_005766 O60504 VINEX_HUMAN Homo sapiens sorbin and SH3 domain containing 3 (SORBS3), transcript variant 1, mRNA. 80 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GGTATCAGACCTGGCCAGGCC 0.602000 21 12 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130698 45130698 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:45130698T>A uc002xsa.3 - 3 1811 c.1349A>T c.(1348-1350)cAt>cTt p.H450L ZNF334_uc002xsb.3_Missense_Mutation_p.H389L|ZNF334_uc002xsd.3_Missense_Mutation_p.H389L|ZNF334_uc002xsc.3_Missense_Mutation_p.H427L|ZNF334_uc010ghl.3_Missense_Mutation_p.H426L Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 427 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTCTCCTGTATGACTTCTTCG 0.408000 68 33 0 0 1 0 0 PDZD4 57595 broad.mit.edu 37 X 153069653 153069653 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:153069653C>T uc004fja.1 - 7 1733 c.1483G>A c.(1483-1485)Gag>Aag p.E495K PDZD4_uc004fiy.1_Missense_Mutation_p.E414K|PDZD4_uc004fiz.1_Missense_Mutation_p.E489K|PDZD4_uc004fix.2_Missense_Mutation_p.E393K|PDZD4_uc011mze.1_Missense_Mutation_p.E380K|PDZD4_uc022chy.1_5'Flank NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 489 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGGGGCTCTCGGGCAGGGGC 0.706000 6 7 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17488934 17488934 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:17488934G>A uc002zlw.3 - 0 179 c.71C>T c.(70-72)tCg>tTg p.S24L GAB4_uc010gqs.1_Missense_Mutation_p.S24L NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 24 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCCGGGCCACGAAGACAAAGG 0.682000 12 7 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089680 9089680 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:9089680G>A uc002mkp.3 - 0 2339 c.2135C>T c.(2134-2136)cCa>cTa p.P712L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 712 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGCAGAGTCTGGTTCAGGGGA 0.493000 43 24 0 0 1 0 0 CCDC68 80323 broad.mit.edu 37 18 52585208 52585208 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:52585208T>A uc002lfs.3 - 9 981 c.809A>T c.(808-810)aAt>aTt p.N270I CCDC68_uc002lft.3_Missense_Mutation_p.N270I NM_001143829 NP_079490 Q9H2F9 CCD68_HUMAN Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA. 270 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) TTCTTTTAAATTATTTTTTAA 0.328000 11 3 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21760698 21760698 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:21760698G>A uc010iuc.2 - 9 2060 c.1602C>T c.(1600-1602)atC>atT p.I534I CDH12_uc011cno.1_Silent_p.I494I|CDH12_uc003jgk.2_Silent_p.I534I|BC038535_uc003jgj.3_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 534 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 AATTTGGTTTGATAGCAGCCT 0.393000 HNSCC(59;0.17) 30 27 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242689687 242689687 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:242689687C>T uc002wce.1 + 6 1148 c.975C>T c.(973-975)ctC>ctT p.L325L D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.L191L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Silent_p.L24L NM_152783 NP_689996 Q8N465 D2HDH_HUMAN Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 325 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833) GGCGCCATCTCCACCTGGCCA 0.617000 51 29 0 0 1 0 0 BMPR1B 658 broad.mit.edu 37 4 96073850 96073850 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:96073850T>C uc003htm.4 + 11 1583 c.1309T>C c.(1309-1311)Tat>Cat p.Y437H BMPR1B_uc010ilb.3_Missense_Mutation_p.Y437H|BMPR1B_uc003htn.4_Missense_Mutation_p.Y437H NM_001203 NP_001194 O00238 BMR1B_HUMAN Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA. 437 Protein kinase. BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) TGACCCCTCTTATGAGGACAT 0.413000 2 3 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50193395 50193395 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:50193395G>A uc001zxu.3 - 20 2325 c.2183C>T c.(2182-2184)tCc>tTc p.S728F ATP8B4_uc010ber.3_Missense_Mutation_p.S601F|ATP8B4_uc010ufd.2_Missense_Mutation_p.S538F|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Missense_Mutation_p.S26F NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 728 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATGGCCATTGGAAAAATTTCT 0.358000 33 14 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 166960505 166960505 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:166960505T>A uc003irh.2 + 9 1820 c.1173T>A c.(1171-1173)ttT>ttA p.F391L TLL1_uc011cjn.2_Missense_Mutation_p.F391L|TLL1_uc011cjo.2_Missense_Mutation_p.F215L NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 391 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTAAATTTTACAACGATGG 0.368000 13 12 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40431539 40431539 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:40431539G>A uc001cev.3 + 5 787 c.606G>A c.(604-606)gtG>gtA p.V202V MFSD2A_uc010ojb.1_Silent_p.V152V|MFSD2A_uc001ceu.3_Silent_p.V189V|MFSD2A_uc010ojc.2_Silent_p.V33V|MFSD2A_uc009vvy.3_Non-coding_Transcript NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA. 202 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GGATGACTGTGGAAGTGCTGG 0.582000 45 28 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132360973 132360973 + Missense_Mutation SNP C T T rs144771431 byFrequency TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:132360973C>T uc003eov.4 - 3 760 c.380G>A c.(379-381)cGa>cAa p.R127Q NM_032169 NP_115545 Q7Z494 NPHP3_HUMAN Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA. 0 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACGGAAGATTCGACCCTATGG 0.348000 35 27 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4512739 4512739 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:4512739C>T uc002mar.1 - 2 1191 c.1191G>A c.(1189-1191)gcG>gcA p.A397A PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 397 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 TGGCCACATTCGCTGCCCCTG 0.562000 17 29 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176308503 176308503 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:176308503G>A uc003mfa.3 - 17 2519 c.2427C>T c.(2425-2427)atC>atT p.I809I HK3_uc003mez.3_Silent_p.I365I NM_002115 NP_002106 P52790 HXK3_HUMAN Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA. 809 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATCCTCTAGGATGGCTCGGA 0.647000 29 8 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125315755 125315755 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:125315755C>T uc011lyx.2 + 0 307 c.307C>T c.(307-309)Cat>Tat p.H103Y NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GGCCAACATTCATACCCAGAG 0.493000 144 8 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1126377 1126377 + Silent SNP C A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:1126377C>A uc009xhm.1 + 4 530 c.357C>A c.(355-357)tcC>tcA p.S119S WDR37_uc001ige.3_Silent_p.S119S|WDR37_uc001igf.1_Silent_p.S119S|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript NM_014023 NP_054742 Q9Y2I8 WDR37_HUMAN Homo sapiens WD repeat domain 37 (WDR37), mRNA. 119 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) GCCAGCTCTCCCAGAAACTGA 0.498000 21 7 0.000157383 0.000157676 1 1 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 72158 72158 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrGL000209.1:72158C>T uc002qui.2 + 2 319 c.308C>T c.(307-309)cCc>cTc p.P103L KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.P100L|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron NM_001083539 NP_001077008 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA. 23 Ig-like C2-type 1. regulation of immune response integral to membrane|plasma membrane receptor activity CCACACTCCCCCACTGGGTGG 0.572000 15 29 0 0 1 0 0 RETSAT 54884 broad.mit.edu 37 2 85570396 85570396 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:85570396G>A uc002spd.3 - 10 1993 c.1802C>T c.(1801-1803)tCt>tTt p.S601F RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.S540F NM_017750 NP_060220 Q6NUM9 RETST_HUMAN Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA. 601 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CCGGATCCTAGAATCAAGATT 0.517000 39 27 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27703022 27703022 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:27703022G>A uc001itu.2 - 0 276 c.158C>T c.(157-159)tCc>tTc p.S53F NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 53 spermatid development integral to membrane hedgehog receptor activity p.S53F(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 GGGTTCGGGGGATTTCGGGGG 0.692000 97 40 0 0 1 0 0 CIB2 10518 broad.mit.edu 37 15 78403591 78403591 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:78403591G>A uc010ums.1 - 2 435 c.114C>T c.(112-114)gcC>gcT p.A38A CIB2_uc002bdb.1_Silent_p.A38A|CIB2_uc002bdc.1_5'UTR NM_006383 NP_006374 O75838 CIB2_HUMAN Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA. 38 calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 11 CGAGGTTGGGGGCCAGCTCAT 0.607000 50 17 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12144603 12144603 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:12144603C>T uc001atq.3 + 1 368 c.146C>T c.(145-147)cCc>cTc p.P49L TNFRSF8_uc010obc.2_Intron NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 49 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TACCGCTGCCCCATGGGTGAG 0.567000 32 23 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5566421 5566421 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:5566421G>A uc010qzh.2 - 0 333 c.333C>T c.(331-333)ttC>ttT p.F111F HBG1_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA. 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TATAGTGAAGGAAGAACATTT 0.453000 55 22 0 0 1 0 0 EPHA7 2045 broad.mit.edu 37 6 93965618 93965618 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:93965618G>A uc003poe.3 - 12 2551 c.2310C>T c.(2308-2310)ctC>ctT p.L770L EPHA7_uc003pof.3_Silent_p.L765L|EPHA7_uc011eac.2_Silent_p.L766L NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 770 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTTTACAAACGAGATTGCTGT 0.418000 48 19 0 0 1 0 0 SLC6A17 388662 broad.mit.edu 37 1 110734654 110734654 + Silent SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:110734654T>C uc009wfq.3 + 6 1386 c.925T>C c.(925-927)Ttg>Ctg p.L309L SLC6A17_uc001dze.1_5'Flank NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 309 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) CTTCTTTGCCTTGGGCCTGGG 0.552000 48 25 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103470011 103470011 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:103470011G>A uc001dum.3 - 19 2287 c.1969C>T c.(1969-1971)Cca>Tca p.P657S COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P645S|COL11A1_uc001dun.3_Missense_Mutation_p.P606S|COL11A1_uc009weh.3_Missense_Mutation_p.P529S NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 645 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GCTTCACCTGGAAGACCTCTT 0.328000 18 8 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100382224 100382224 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:100382224C>T uc001dsi.1 + 32 4818 c.4418C>T c.(4417-4419)aCt>aTt p.T1473I AGL_uc001dsj.1_Missense_Mutation_p.T1473I|AGL_uc001dsk.1_Missense_Mutation_p.T1473I|AGL_uc001dsl.1_Missense_Mutation_p.T1473I|AGL_uc001dsm.1_Missense_Mutation_p.T1457I|AGL_uc001dsn.1_Missense_Mutation_p.T1456I NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 1473 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GGCCCGGAGACTACTGCAAAG 0.353000 18 5 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77126357 77126357 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:77126357C>T uc004fof.3 - 2 496 c.434G>A c.(433-435)aGg>aAg p.R145K MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.R145K NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN Homo sapiens magnesium transporter 1 (MAGT1), mRNA. 113 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AAAAAATATCCTGTTGGTGAA 0.368000 62 29 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5956254 5956254 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:5956254C>T uc002kmz.4 - 19 1997 c.1837G>A c.(1837-1839)Gaa>Aaa p.E613K L3MBTL4_uc002kmy.4_Missense_Mutation_p.E604K|L3MBTL4_uc010dkt.3_Missense_Mutation_p.E613K NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 613 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GCAATATCTTCTTCAGGGAGT 0.488000 76 53 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10397987 10397987 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:10397987G>A uc002gmo.3 - 37 5564 c.5470C>T c.(5470-5472)Cgt>Tgt p.R1824C AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1824 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TCAAGTTCACGAACCTACAAG 0.388000 44 28 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221822 118221822 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:118221822G>A uc004era.4 - 10 3371 c.3371C>T c.(3370-3372)tCc>tTc p.S1124F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 1124 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGTCAACTGGGAAAGATGTCT 0.468000 125 50 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40958353 40958353 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:40958353G>A uc003jmh.3 + 10 1593 c.1479G>A c.(1477-1479)ggG>ggA p.G493G C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 493 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TCCTCGTAGGGAATCAAGCAG 0.488000 16 13 0 0 1 0 0 CXorf23 256643 broad.mit.edu 37 X 19983592 19983592 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:19983592G>A uc004czp.3 - 2 844 c.844C>T c.(844-846)Cgt>Tgt p.R282C CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.R232C NM_198279 NP_938020 A2AJT9 CX023_HUMAN Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA. 282 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 CGTTTGTGACGATAGTCATAG 0.453000 56 21 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76939417 76939417 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:76939417C>T uc004ecp.4 - 8 1563 c.1331G>A c.(1330-1332)cGa>cAa p.R444Q ATRX_uc004ecq.4_Missense_Mutation_p.R406Q|ATRX_uc004eco.4_Missense_Mutation_p.R229Q|ATRX_uc004ecr.2_Missense_Mutation_p.R405Q|ATRX_uc010nlx.1_Missense_Mutation_p.R444Q|ATRX_uc010nly.1_Missense_Mutation_p.R389Q NM_000489 NP_000480 P46100 ATRX_HUMAN Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA. 444 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCTCCTTTTCGTGCTTTTGT 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 110 52 0 0 1 0 0 SMAD6 4091 broad.mit.edu 37 15 67073705 67073705 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:67073705C>T uc002aqf.3 + 3 2246 c.1323C>T c.(1321-1323)ttC>ttT p.F441F SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Silent_p.F180F NM_005585 NP_005576 O43541 SMAD6_HUMAN Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA. 441 MH2. BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 TGTTCGACTTCGAGCGCTCGG 0.726000 27 11 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75975074 75975074 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:75975074C>T uc002baw.3 - 6 4750 c.4657G>A c.(4657-4659)Gat>Aat p.D1553N NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 1553 Gly/Ser-rich (glycosaminoglycan attachment domain). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AAGCCTCCATCCAGGGTTCCT 0.687000 49 15 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33487076 33487076 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:33487076C>T uc002nuf.3 - 10 1342 c.1276G>A c.(1276-1278)Gag>Aag p.E426K RHPN2_uc010xro.2_Missense_Mutation_p.E275K|RHPN2_uc002nue.3_Missense_Mutation_p.E156K NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA. 426 BRO1. signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) AGGCTGGCCTCCCGCACCGAC 0.627000 50 22 0 0 1 0 0 PVALB 5816 broad.mit.edu 37 22 37211270 37211270 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr22:37211270G>A uc010gwz.3 - 1 101 c.71C>T c.(70-72)tCc>tTc p.S24F PVALB_uc003apx.3_Missense_Mutation_p.S24F NM_002854 NP_002845 P20472 PRVA_HUMAN Homo sapiens parvalbumin (PVALB), mRNA. 24 calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 GTGGTCGAAGGAGTCGGTAGC 0.512000 28 15 0 0 1 0 0 KPNA6 23633 broad.mit.edu 37 1 32628039 32628039 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:32628039C>T uc010ogy.2 + 8 867 c.840C>T c.(838-840)gcC>gcT p.A280A KPNA6_uc001bug.3_Silent_p.A275A|KPNA6_uc001buh.3_Silent_p.A50A|KPNA6_uc010ogx.2_Silent_p.A272A NM_012316 NP_036448 O60684 IMA7_HUMAN Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA. 275 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) CTTGCTGGGCCCTTTCTTATC 0.537000 106 47 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8530352 8530352 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:8530352C>T uc010dwe.3 + 5 663 c.583C>T c.(583-585)Cat>Tat p.H195Y HNRNPM_uc010dwc.1_Missense_Mutation_p.H195Y|HNRNPM_uc010xke.1_Intron|HNRNPM_uc010dwd.3_Intron|HNRNPM_uc002mka.3_Missense_Mutation_p.H75Y NM_005968 NP_005959 P52272 HNRPM_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA. 195 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles RNA binding|nucleotide binding|protein domain specific binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 TGAGATTATCCATGCATTACA 0.423000 72 22 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24359025 24359025 + Missense_Mutation SNP G A A rs146728776 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:24359025G>A uc003xeb.3 + 19 2257 c.2144G>A c.(2143-2145)gGa>gAa p.G715E ADAM7_uc003xec.3_Missense_Mutation_p.G487E NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 715 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G715*(2) NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GAGAACAAAGGATACTTTGGT 0.368000 27 22 0 0 1 0 0 SOX30 11063 broad.mit.edu 37 5 157078819 157078819 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:157078819C>T uc003lxb.1 - 0 610 c.268G>A c.(268-270)Gaa>Aaa p.E90K SOX30_uc003lxc.1_Missense_Mutation_p.E90K|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA. 90 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCAGCGGCTTCCTCGTTCTGG 0.711000 5 7 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634091 70634091 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:70634091C>T uc001xly.3 - 1 1803 c.1049G>A c.(1048-1050)aGc>aAc p.S350N SLC8A3_uc001xlw.3_Missense_Mutation_p.S350N|SLC8A3_uc001xlx.3_Missense_Mutation_p.S350N|SLC8A3_uc001xlz.3_Missense_Mutation_p.S350N|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 350 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GAAGGCACGGCTCTTCTGTTG 0.493000 40 17 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77256186 77256186 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:77256186C>T uc003ugh.2 + 12 1281 c.1190C>T c.(1189-1191)tCa>tTa p.S397L PTPN12_uc011kgp.1_Missense_Mutation_p.S278L|PTPN12_uc011kgq.1_Missense_Mutation_p.S267L|PTPN12_uc010lds.2_Missense_Mutation_p.S129L NM_002835 NP_002826 Q05209 PTN12_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA. 397 Interaction with TGFB1I1 (By similarity). soluble fraction SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 CATATGGTTTCATCAGAACAA 0.398000 24 19 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43204652 43204652 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:43204652C>T uc002lbe.3 + 1 839 c.23C>T c.(22-24)cCt>cTt p.P8L SLC14A2_uc002lbb.3_Missense_Mutation_p.P8L|SLC14A2_uc010dnj.3_Missense_Mutation_p.P8L NM_007163 NP_009094 Q15849 UT2_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA. 8 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CACAGCAGTCCTCTCCTGCCA 0.572000 39 20 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75038095 75038095 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:75038095C>T uc009xrc.3 - 21 2571 c.2450_splice c.e21-1 p.G817_splice TTC18_uc001jty.3_Splice_Site_p.G817_splice|TTC18_uc001jtv.4_Splice_Site|TTC18_uc001jtw.4_Splice_Site|TTC18_uc001jtx.3_Splice_Site_p.G198_splice NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 817 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) AGCTCCTGGTCCTAAATAGAT 0.323000 3 4 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39932369 39932369 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:39932369C>T uc004den.4 - 3 2522 c.2230G>A c.(2230-2232)Gag>Aag p.E744K BCOR_uc004dep.4_Missense_Mutation_p.E744K|BCOR_uc004deo.4_Missense_Mutation_p.E744K|BCOR_uc004dem.4_Missense_Mutation_p.E744K|BCOR_uc004deq.4_Missense_Mutation_p.E744K NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 744 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GATCTCCTCTCTGGTTTCTCC 0.522000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 112 45 0 0 1 0 0 ANO7 50636 broad.mit.edu 37 2 242151534 242151534 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:242151534C>T uc002wax.2 + 15 1852 c.1749C>T c.(1747-1749)ttC>ttT p.F583F NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA. 583 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 AGACCAAGTTCGAGGACGCCT 0.582000 38 23 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59189503 59189504 + Missense_Mutation DNP CC TT TT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:59189503_59189504CC>TT uc010rkt.2 - 0 923_924 c.923_924GG>AA c.(922-924)agg>aAA p.R308K NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA. 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 TCCCGGGGTCCCTTTCCATGGC 0.431000 75 42 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 701848 701848 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:701848C>T uc002cii.1 + 8 916 c.862C>T c.(862-864)Ccc>Tcc p.P288S WDR90_uc002cig.1_Missense_Mutation_p.P288S|WDR90_uc002cih.1_Missense_Mutation_p.P289S|WDR90_uc002cij.1_Non-coding_Transcript NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 288 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CGCCTTGGCACCCAGGCCCTT 0.677000 22 14 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49753849 49753849 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:49753849C>T uc003ozu.3 - 0 1205 c.1052G>A c.(1051-1053)gGa>gAa p.G351E NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 351 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GGCTTTGGTTCCCTTAGCAAA 0.478000 86 41 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081348 95081348 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:95081348G>A uc001ydp.3 + 1 729 c.570G>A c.(568-570)ggG>ggA p.G190G SERPINA3_uc001ydo.4_Silent_p.G215G|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Silent_p.G190G|SERPINA3_uc001yds.3_Silent_p.G190G NM_001085 NP_001076 P01011 AACT_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA. 190 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAACTAGGGGGAAAATCACAG 0.493000 62 36 0 0 1 0 0 ASB4 51666 broad.mit.edu 37 7 95157616 95157616 + Splice_Site SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:95157616G>A uc011kij.2 + 3 1049 c.978_splice c.e3+1 p.K326_splice ASB4_uc003unx.3_Missense_Mutation_p.V327M NM_016116 NP_057200 Q9Y574 ASB4_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA. 326 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) GTTCCATAAGGTGAGGCTCTG 0.552000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 12 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30518079 30518079 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:30518079G>A uc002dyi.4 + 20 2586 c.2410G>A c.(2410-2412)Gag>Aag p.E804K ITGAL_uc002dyj.4_Missense_Mutation_p.E720K|ITGAL_uc010vev.2_Intron NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 804 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCTCTCTGTGGAGCTGAGCCT 0.567000 262 120 0 0 1 0 0 CCDC151 115948 broad.mit.edu 37 19 11537503 11537503 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:11537503C>T uc002mrs.3 - 5 857 c.714_splice c.e5+1 p.M238_splice CCDC151_uc002mrr.3_Splice_Site_p.M173_splice|CCDC151_uc010dxz.3_Intron NM_145045 NP_659482 A5D8V7 CC151_HUMAN Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA. 238 endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 12 TAGTCCCTACCATTAGATAGG 0.612000 18 5 0 0 1 0 0 SLC13A1 6561 broad.mit.edu 37 7 122774538 122774538 + Silent SNP C T T rs151167581 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:122774538C>T uc003vkm.3 - 7 883 c.858G>A c.(856-858)acG>acA p.T286T SLC13A1_uc010lks.3_Silent_p.T162T NM_022444 NP_071889 Q9BZW2 S13A1_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA. 286 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) GGAAGGAAAACGTAAACCATG 0.438000 37 9 0 0 1 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 22749 22749 + RNA SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrGL000241.1:22749C>T uc011mgv.2 - 5 c.671G>A Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. AAGACTGGTTCCCATTGTTCT 0.328000 66 5 0 0 1 0 0 UGT2B10 7365 broad.mit.edu 37 4 69683885 69683885 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:69683885C>T uc003hee.3 + 1 882 c.857C>T c.(856-858)cCc>cTc p.P286L UGT2B10_uc011cam.2_Missense_Mutation_p.P202L NM_001075 NP_001066 P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 286 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 CCTGCCAAACCCCTACCTAAG 0.373000 77 58 0 0 1 0 0 SBF2 81846 broad.mit.edu 37 11 9861129 9861129 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:9861129C>T uc001mib.2 - 25 3509 c.3371G>A c.(3370-3372)gGa>gAa p.G1124E SBF2_uc001mif.3_Missense_Mutation_p.G880E|U80769_uc001mig.3_Intron NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN Homo sapiens SET binding factor 2 (SBF2), mRNA. 1124 Myotubularin phosphatase. myelination cytoplasm|membrane phosphatase activity|protein binding breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) ACTTATGGTTCCTAAACCTAA 0.483000 75 53 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + RNA SNP C A A rs79307257 by1000genomes TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:96593016C>A uc010yug.1 - 26 c.1897G>T ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 42 7 5.18039e-06 5.21912e-06 1 1 0 BRAT1 221927 broad.mit.edu 37 7 2582947 2582947 + Missense_Mutation SNP A T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:2582947A>T uc003smi.3 - 5 1102 c.814T>A c.(814-816)Ttc>Atc p.F272I BRAT1_uc003smh.4_5'Flank|BRAT1_uc021zyz.1_3'UTR|BRAT1_uc003smj.2_3'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN Homo sapiens BRCA1-associated ATM activator 1 (BRAT1), mRNA. 272 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 GAAGAACTGAACACGGGAGAA 0.622000 36 11 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G A A rs17849781 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:7577106G>A uc002gim.2 - 7 1026 c.832C>T c.(832-834)Cct>Tct p.P278S TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.P278S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P146S|TP53_uc010cnf.1_Missense_Mutation_p.P146S|TP53_uc002gii.1_Missense_Mutation_p.P146S|TP53_uc010cni.1_Missense_Mutation_p.P278S|TP53_uc010cnh.1_Missense_Mutation_p.P278S|TP53_uc002gij.2_Missense_Mutation_p.P278S|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P278S(108)|p.P278L(58)|p.P278T(45)|p.P278A(44)|p.P278R(28)|p.C277F(22)|p.C277Y(15)|p.P278H(12)|p.P278fs*67(8)|p.0?(8)|p.P278F(7)|p.C277*(7)|p.C277G(5)|p.P278fs*28(4)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.C277_P278insXXXXXXX(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.C277R(1)|p.C275fs*20(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTCTCCCAGGACAGGCACAA 0.552000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 9 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117033027 117033027 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:117033027C>T uc011mtp.2 - 7 1954 c.1821G>A c.(1819-1821)gaG>gaA p.E607E KLHL13_uc004eqk.3_Silent_p.E553E|KLHL13_uc004eql.3_Silent_p.E604E|KLHL13_uc011mtn.2_Silent_p.E444E|KLHL13_uc011mto.2_Silent_p.E598E|KLHL13_uc011mtq.2_Silent_p.E588E|KLHL13_uc004eqm.3_Silent_p.E562E|KLHL13_uc022cde.1_Silent_p.E588E NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 604 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 TCTGCACTATCTCTACCATAC 0.428000 72 39 0 0 1 0 0 MBOAT1 154141 broad.mit.edu 37 6 20124682 20124682 + Silent SNP G T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:20124682G>T uc003ncx.1 - 7 1069 c.864C>A c.(862-864)gtC>gtA p.V288V MBOAT1_uc011dji.1_Silent_p.V139V NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA. 288 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) AGGCTTGCATGACAACATATA 0.438000 60 38 9.62906e-15 9.82966e-15 1 1 0 TIAM2 26230 broad.mit.edu 37 6 155450984 155450984 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:155450984C>T uc003qqb.3 + 5 1900 c.627C>T c.(625-627)tcC>tcT p.S209S TIAM2_uc003qqe.3_Silent_p.S209S NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA. 209 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CGGAAACCTCCCCTGTGCCTG 0.637000 40 13 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1616835 1616835 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:1616835C>T uc003wpl.3 + 5 2008 c.1911C>T c.(1909-1911)atC>atT p.I637I DLGAP2_uc003wpm.3_Silent_p.I637I NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA. 716 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCTCCTCCATCGGGATTCAGG 0.632000 1 3 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87607726 87607726 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:87607726C>T uc003ujn.3 + 3 538 c.323_splice c.e3+1 p.H108_splice ADAM22_uc003uji.2_Splice_Site_p.H107_splice|ADAM22_uc003ujj.2_Splice_Site_p.H108_splice|ADAM22_uc003ujk.2_Splice_Site_p.H108_splice|ADAM22_uc003ujl.2_Splice_Site_p.H108_splice|ADAM22_uc003ujm.3_Splice_Site_p.H108_splice|ADAM22_uc003ujo.3_Splice_Site_p.H108_splice|ADAM22_uc003ujp.1_Splice_Site_p.H160_splice NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 108 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) CGTGCTAAATCAGTAAGTGTT 0.353000 24 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179401241 179401241 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:179401241C>T uc021vsy.1 - 305 92754 c.92529G>A c.(92527-92529)gtG>gtA p.V30843V MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V24538V|TTN_uc021vta.1_Silent_p.V24471V|TTN_uc021vtb.1_Silent_p.V24346V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31770 Fibronectin type-III 124. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTCCAGGCCACAACACAAG 0.408000 35 25 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179452434 179452434 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:179452434C>T uc021vsy.1 - 254 56123 c.55898G>A c.(55897-55899)cGa>cAa p.R18633Q MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R12328Q|TTN_uc021vta.1_Missense_Mutation_p.R12261Q|TTN_uc021vtb.1_Missense_Mutation_p.R12136Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19560 Fibronectin type-III 35. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T18633I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGGGCTGGTCGTCCTCTCAC 0.478000 25 13 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23236903 23236903 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:23236903G>A uc009vqj.1 + 13 2676 c.2531G>A c.(2530-2532)cGg>cAg p.R844Q EPHB2_uc001bge.3_Missense_Mutation_p.R845Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R844Q|EPHB2_uc010odu.2_Missense_Mutation_p.R786Q NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 844 Protein kinase. R -> W (in dbSNP:rs55826626). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CAGGACTATCGGCTGCCACCG 0.612000 53 16 0 0 1 0 0 OR2T11 127077 broad.mit.edu 37 1 248790286 248790286 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:248790286C>T uc001ier.1 - 0 144 c.144G>A c.(142-144)gtG>gtA p.V48V NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA. 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V48M(1) breast(1)|large_intestine(5)|lung(20)|skin(2) 28 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCGAGAGTCCACCTGAATCA 0.498000 18 30 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594596 140594596 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:140594596G>A uc003lja.1 + 0 1088 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 301 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTGACAGGAGAAATTGAACT 0.398000 59 53 0 0 1 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600049 116600049 + Silent SNP A T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:116600049A>T uc003pwp.4 - 0 1232 c.945T>A c.(943-945)ccT>ccA p.P315P DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank NM_003309 NP_003300 Q9H0U9 TSYL1_HUMAN Homo sapiens TSPY-like 1 (TSPYL1), mRNA. 315 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) AACCGGTTCTAGGGTGTCTGA 0.463000 87 36 0 0 1 0 0 DENND1B 163486 broad.mit.edu 37 1 197614869 197614869 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:197614869G>A uc021pgu.1 - 8 850 c.512C>T c.(511-513)tCc>tTc p.S171F DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Missense_Mutation_p.S171F|DENND1B_uc001gue.3_Missense_Mutation_p.S141F|DENND1B_uc001gug.4_5'UTR NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 171 DENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 AATGAAGTAGGAATGCTAATC 0.254000 7 12 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20199461 20199461 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:20199461G>A uc003sus.4 - 4 832 c.523C>T c.(523-525)Cgg>Tgg p.R175W MACC1_uc010kug.3_Missense_Mutation_p.R175W NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 175 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TAAGCCTCCCGATCATTTTTA 0.468000 34 17 0 0 1 0 0 ZYX 7791 broad.mit.edu 37 7 143080289 143080289 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:143080289C>T uc003wcx.3 + 4 1055 c.897C>T c.(895-897)ccC>ccT p.P299P ZYX_uc011ktd.2_Silent_p.P142P|ZYX_uc003wcw.3_Silent_p.P299P|ZYX_uc011kte.2_Silent_p.P268P|ZYX_uc011ktf.2_Silent_p.P142P NM_003461 NP_003452 Q15942 ZYX_HUMAN Homo sapiens zyxin (ZYX), transcript variant 1, mRNA. 299 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1) 17 Melanoma(164;0.205) TGGGGCACCCCGAAGCTCTTT 0.572000 38 29 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96425891 96425891 + Missense_Mutation SNP T A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:96425891T>A uc004aub.3 + 13 2058 c.1911T>A c.(1909-1911)ttT>ttA p.F637L PHF2_uc011lug.1_Missense_Mutation_p.F520L|PHF2_uc004auc.3_Missense_Mutation_p.F56L NM_005392 NP_005383 O75151 PHF2_HUMAN Homo sapiens PHD finger protein 2 (PHF2), mRNA. 637 Lys-rich. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) AGTTCTCTTTTTCTTTCTCCA 0.473000 39 5 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142184064 142184064 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:142184064G>A uc003eux.4 - 40 7038 c.6916C>T c.(6916-6918)Ctt>Ttt p.L2306F ATR_uc003euy.1_Missense_Mutation_p.L192F NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 2306 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GGTTTCTGAAGAGAAGCAAGA 0.318000 Other conserved DNA damage response genes 23 8 0 0 1 0 0 UBE2NL 389898 broad.mit.edu 37 X 142967493 142967493 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:142967493C>T uc004fca.3 + 0 321 c.291C>T c.(289-291)tcC>tcT p.S97S NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA. 97 acid-amino acid ligase activity breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(192;6.56e-05) ATAAGTGGTCCCCAGCCCTGC 0.423000 51 35 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31419231 31419231 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:31419231G>A uc010cap.1 + 8 1052 c.1003G>A c.(1003-1005)Gtt>Att p.V335I ITGAD_uc010vfl.1_Missense_Mutation_p.S367N|ITGAD_uc002ebv.1_Missense_Mutation_p.V335I|ITGAD_uc002ebw.1_Missense_Mutation_p.S178N NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 335 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GATCTATGCAGTTGAGGGTAA 0.542000 45 14 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59944992 59944992 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:59944992G>A uc002izn.3 - 24 3617 c.3541C>T c.(3541-3543)Cct>Tct p.P1181S INTS2_uc002izm.3_Missense_Mutation_p.P1173S NM_020748 NP_065799 Q9H0H0 INT2_HUMAN Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA. 1181 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding p.P1181L(1) NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TGTACATCAGGATCCATGCTT 0.323000 21 12 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7643208 7643208 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:7643208G>A uc002giu.1 + 7 1342 c.1328G>A c.(1327-1329)gGg>gAg p.G443E DNAH2_uc002git.3_Missense_Mutation_p.G525E|DNAH2_uc010vuk.2_Missense_Mutation_p.G443E NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 443 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GCCGTTCGCGGGGGTATCCTG 0.542000 28 11 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104193084 104193084 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:104193084C>T uc004bbk.2 - 1 168 c.86G>A c.(85-87)gGg>gAg p.G29E NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 29 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) AGCCAGGATCCCCTTTCCATT 0.443000 26 15 0 0 1 0 0 DMRT2 10655 broad.mit.edu 37 9 1057193 1057193 + Missense_Mutation SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:1057193T>C uc003zha.3 + 3 1806 c.1606T>C c.(1606-1608)Tcg>Ccg p.S536P DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.S380P|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.S536P NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA. 536 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) AACAAAACTCTCGGTGAATGA 0.398000 54 6 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548009 22548009 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:22548009G>A uc003xcm.1 - 1 1499 c.1141C>T c.(1141-1143)Ccc>Tcc p.P381S EGR3_uc011kzn.1_Missense_Mutation_p.P343S|EGR3_uc011kzo.2_Missense_Mutation_p.P327S NM_004430 NP_001186810 Q06889 EGR3_HUMAN Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA. 381 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GTGACCACGGGGGCCAGCGAC 0.672000 29 10 0 0 1 0 0 OSTCP1 202459 broad.mit.edu 37 6 159262828 159262828 + RNA SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr6:159262828G>A uc003qrw.3 - 2 c.516C>T Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA. GGACACAAACGAATCCAATGA 0.403000 57 18 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104877854 104877854 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:104877854G>A uc010ruz.1 - 2 460 c.428C>T c.(427-429)aCc>aTc p.T143I CASP5_uc010rva.1_Missense_Mutation_p.T130I|CASP5_uc010rvb.1_Missense_Mutation_p.T72I|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_Intron NM_001136112 NP_001129584 P51878 CASP5_HUMAN Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA. 130 CARD. apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) AAGTGTTTGGGTAAACATTTG 0.353000 61 25 0 0 1 0 0 ALPP 250 broad.mit.edu 37 2 233246248 233246248 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:233246248G>A uc002vsq.3 + 10 1516 c.1351G>A c.(1351-1353)Gaa>Aaa p.E451K NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 451 E -> G (in dbSNP:rs1048994). anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCCCCTGGACGAAGAGACCCA 0.647000 21 7 0 0 1 0 0 CTCFL 140690 broad.mit.edu 37 20 56064014 56064014 + RNA SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr20:56064014G>A uc010giu.3 - 3 c.669C>T CTCFL_uc010giv.3_Non-coding_Transcript Q8NI51 CTCFL_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA. DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TGCTCCTCCCGACAAGTTTGC 0.428000 115 51 0 0 1 0 0 C1orf114 57821 broad.mit.edu 37 1 169391029 169391029 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:169391029C>T uc001gga.1 - 2 808 c.640G>A c.(640-642)Gat>Aat p.D214N C1orf114_uc001gfz.1_Missense_Mutation_p.D214N|C1orf114_uc009wvq.1_Missense_Mutation_p.D214N|C1orf114_uc001ggb.3_Missense_Mutation_p.D214N|C1orf114_uc001ggc.1_Missense_Mutation_p.D214N NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 214 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) ATTGTCCTATCCTTGTTTTCT 0.368000 27 44 0 0 1 0 0 GNAI1 2770 broad.mit.edu 37 7 79833063 79833063 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:79833063C>T uc003uhb.1 + 4 842 c.505C>T c.(505-507)Ccg>Tcg p.P169S GNAI1_uc011kgt.1_Missense_Mutation_p.P117S NM_002069 NP_002060 P63096 GNAI1_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA. 169 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 AAATTACATCCCGACTCAACA 0.313000 22 7 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900776 40900777 + Missense_Mutation DNP CC TT TT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:40900776_40900777CC>TT uc002onr.3 - 6 3751_3752 c.3482_3483GG>AA c.(3481-3483)ggg>gAA p.G1161E PRX_uc002onq.3_Missense_Mutation_p.G1022E|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 1161 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TACCTGCCTCCCCAAAGCCGGT 0.663000 71 36 0 0 1 0 0 ZNHIT1 10467 broad.mit.edu 37 7 100867053 100867054 + Missense_Mutation DNP CC TT TT TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:100867053_100867054CC>TT uc003uye.3 + 3 865_866 c.373_374CC>TT c.(373-375)ccc>TTc p.P125F ZNHIT1_uc003uyf.3_Non-coding_Transcript NM_006349 NP_006340 O43257 ZNHI1_HUMAN Homo sapiens zinc finger, HIT-type containing 1 (ZNHIT1), mRNA. 125 metal ion binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) CTTCCCATCCCCCTACACCTGT 0.653000 59 17 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97096895 97096895 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:97096895G>A uc001kkp.3 - 27 3067 c.3022C>T c.(3022-3024)Cct>Tct p.P1008S SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.P962S|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 1008 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GGCAGAGGAGGCAAGGGTGGG 0.617000 14 17 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845570 123845570 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:123845570C>T uc001lfv.3 + 3 3915 c.3555C>T c.(3553-3555)caC>caT p.H1185H TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.H1185H|TACC2_uc010qtv.2_Silent_p.H1185H NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1185 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) AAGCTGAGCACCCCATGGCCA 0.587000 14 9 0 0 1 0 0 SGCA 6442 broad.mit.edu 37 17 48247642 48247642 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:48247642G>A uc002iqi.3 + 6 922 c.886G>A c.(886-888)Gtg>Atg p.V296M SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Intron|BC126901_uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA. 296 muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1) 14 CACCCTCCTGGTGCCCCTGCT 0.637000 64 36 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3239578 3239578 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:3239578G>A uc004crg.4 - 4 4305 c.4148C>T c.(4147-4149)tCa>tTa p.S1383L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1383 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GGCCGTCCTTGAGGGATTCCA 0.507000 23 6 0 0 1 0 0 PRAMEF22 653606 broad.mit.edu 37 1 13036630 13036630 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:13036630G>A uc009vnq.1 + 1 702 c.702G>A c.(700-702)agG>agA p.R234R PRAMEF6_uc001aur.2_Intron NM_001100631 NP_001094101 A3QJZ6 PRA22_HUMAN Homo sapiens PRAME family member 22 (PRAMEF22), mRNA. 234 kidney(1)|large_intestine(2)|lung(1)|skin(1) 5 GCCAGATGAGGAATCTTCGCA 0.473000 187 31 0 0 1 0 0 EPHX1 2052 broad.mit.edu 37 1 226019639 226019639 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:226019639C>T uc001hpk.3 + 2 423 c.343C>T c.(343-345)Cac>Tac p.H115Y EPHX1_uc001hpl.3_Missense_Mutation_p.H115Y NM_001136018 NP_001129490 P07099 HYEP_HUMAN Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA. 115 aromatic compound catabolic process|response to toxin endoplasmic reticulum membrane|integral to membrane|microsome cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 28 Breast(184;0.197) CAGATACCCTCACTTCAAGAC 0.448000 15 34 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139856364 139856364 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr8:139856364G>A uc003yvd.3 - 3 1143 c.696C>T c.(694-696)cgC>cgT p.R232R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 232 cell adhesion collagen|cytoplasm structural molecule activity p.R232H(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTGCTTAAAGCGATCTCCTT 0.463000 HNSCC(7;0.00092) 77 35 0 0 1 0 0 TFPT 29844 broad.mit.edu 37 19 54617859 54617859 + Missense_Mutation SNP T G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:54617859T>G uc010yej.1 - 1 651 c.245A>C c.(244-246)tAc>tCc p.Y82S TFPT_uc010erd.2_Missense_Mutation_p.Y82S|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank NM_013342 NP_037474 P0C1Z6 TFPT_HUMAN Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA. 82 DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|cytoplasm DNA binding|protein binding large_intestine(2)|lung(2) 4 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) TAGTGCCTGGTACTTTCTGCG 0.662000 T TCF3 pre-B ALL 70 23 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22864223 22864223 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:22864223C>T uc001yuq.2 + 15 2311 c.2181C>T c.(2179-2181)ttC>ttT p.F727F TUBGCP5_uc001yur.4_Silent_p.F727F NM_001102610 NP_001096080 Q96RT8 GCP5_HUMAN Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA. 727 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GGAATTTTTTCTTAATGGAAG 0.373000 46 20 0 0 1 0 0 SKA1 220134 broad.mit.edu 37 18 47908564 47908564 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:47908564C>T uc002let.3 + 3 463 c.279C>T c.(277-279)tcC>tcT p.S93S SKA1_uc002leu.3_Silent_p.S93S|SKA1_uc010xdl.2_Silent_p.S93S NM_145060 NP_659497 Q96BD8 SKA1_HUMAN Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA. 93 cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytosol|spindle microtubule microtubule binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1) 13 ACGTTCCTTCCCATTTGCCTC 0.338000 20 7 0 0 1 0 0 RBM11 54033 broad.mit.edu 37 21 15599243 15599243 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr21:15599243G>A uc002yjo.4 + 4 517 c.475G>A c.(475-477)Gaa>Aaa p.E159K RBM11_uc002yjn.4_Missense_Mutation_p.E45K|RBM11_uc002yjp.4_Missense_Mutation_p.E45K NM_144770 NP_658983 P57052 RBM11_HUMAN Homo sapiens RNA binding motif protein 11 (RBM11), mRNA. 159 RNA binding|nucleotide binding endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141) TCCTTACTATGAAATGACAGC 0.413000 110 60 0 0 1 0 0 GUSB 2990 broad.mit.edu 37 7 65439400 65439400 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:65439400G>A uc003tun.3 - 7 1404 c.1273C>T c.(1273-1275)Cac>Tac p.H425Y GUSB_uc011kdt.2_Missense_Mutation_p.H279Y NM_000181 NP_000172 P08236 BGLR_HUMAN Homo sapiens glucuronidase, beta (GUSB), mRNA. 425 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 TGCATGTGGTGATGCAGAGAA 0.622000 48 30 0 0 1 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57466407 57466407 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:57466407C>T uc001nkx.1 + 10 2755 c.1499C>T c.(1498-1500)cCc>cTc p.P500L ZDHHC5_uc001nky.1_Missense_Mutation_p.P447L|ZDHHC5_uc001nkz.1_Missense_Mutation_p.P314L NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA. 500 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 TATACCTCTCCCTTCCTGTCA 0.582000 27 15 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038023 75038023 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:75038023G>A uc001dgg.3 - 13 3590 c.3371C>T c.(3370-3372)tCt>tTt p.S1124F NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1124 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTCAGCATCAGATCCCATTTC 0.443000 42 22 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43796783 43796783 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr21:43796783G>A uc002zbb.2 - 10 1262 c.1061C>T c.(1060-1062)tCc>tTc p.S354F TMPRSS3_uc002zay.2_Missense_Mutation_p.S111F|TMPRSS3_uc002zaz.2_Missense_Mutation_p.S227F|TMPRSS3_uc002zba.2_Missense_Mutation_p.S227F|TMPRSS3_uc002zbc.2_Missense_Mutation_p.S353F NM_024022 NP_076927 P57727 TMPS3_HUMAN Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA. 354 Peptidase S1. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CAGGACAGGGGAGGCGTCACC 0.597000 OREG0026238 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 160 61 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229679 21229679 + Missense_Mutation SNP G A A rs61742331 byFrequency TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:21229679G>A uc002red.3 - 25 10189 c.10061C>T c.(10060-10062)gCt>gTt p.A3354V NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3354 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAAAAGTTCAGCATTGGTATT 0.373000 64 21 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23397738 23397738 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:23397738C>T uc004dal.4 + 1 390 c.382C>T c.(382-384)Cca>Tca p.P128S PTCHD1_uc010nfu.2_Missense_Mutation_p.P128S NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN Homo sapiens patched domain containing 1 (PTCHD1), mRNA. 128 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GATCCAGGTTCCAAGGCCTGG 0.393000 43 25 0 0 1 0 0 CLEC6A 93978 broad.mit.edu 37 12 8612272 8612272 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:8612272C>T uc001qum.1 + 2 318 c.201C>T c.(199-201)ttC>ttT p.F67F NM_001007033 NP_001007034 Q6EIG7 CLC6A_HUMAN Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA. 67 defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) TCACCTGCTTCAGTGAAGGGA 0.388000 64 33 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68695368 68695368 + Splice_Site SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:68695368C>T uc010bib.3 - 2 140 c.53_splice c.e2-1 p.G18_splice ITGA11_uc002ari.3_Splice_Site_p.G18_splice NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 18 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GTCCGTGAACCCTGAGGCAGG 0.607000 10 6 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46414676 46414676 + Missense_Mutation SNP G A A rs149975182 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:46414676G>A uc003cpo.4 + 2 405 c.283G>A c.(283-285)Gac>Aac p.D95N CCR5_uc010hjd.3_Missense_Mutation_p.D95N|CCR5_uc021wxb.1_Missense_Mutation_p.D95N NM_001100168 NP_001093638 P51681 CCR5_HUMAN Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA. 95 D -> N (in MWCCR5-107). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) CGCCCAGTGGGACTTTGGAAA 0.473000 68 45 0 0 1 0 0 PCDHB9 56127 broad.mit.edu 37 5 140567778 140567778 + Missense_Mutation SNP C T T rs138983173 by1000genomes TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:140567778C>T uc003liw.1 + 0 886 c.886C>T c.(886-888)Cct>Tct p.P296S NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN Homo sapiens protocadherin beta 9 (PCDHB9), mRNA. 296 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAAATCAATCCTTTTTCTGG 0.368000 6 6 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G A A rs12366766 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:132547087G>A uc001ujn.3 + 46 8327 c.8175G>A c.(8173-8175)caG>caA p.Q2725Q EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2761 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(32)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 33 4 0 0 1 0 0 SLC28A1 9154 broad.mit.edu 37 15 85433758 85433758 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:85433758C>T uc002blg.3 + 4 472 c.270C>T c.(268-270)ctC>ctT p.L90L SLC28A1_uc010upd.1_Silent_p.L12L|SLC28A1_uc010bnb.3_Silent_p.L90L|SLC28A1_uc010upe.2_Silent_p.L90L|SLC28A1_uc010upf.1_Silent_p.L90L|SLC28A1_uc010upg.1_Silent_p.L90L|SLC28A1_uc002blf.3_Silent_p.L90L NM_004213 NP_004204 O00337 S28A1_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA. 90 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) CAGGCCTGCTCTGCACTGGTG 0.592000 9 4 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120586107 120586107 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:120586107C>T uc001txo.3 - 36 4603 c.4590G>A c.(4588-4590)aaG>aaA p.K1530K NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1530 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGACAGCTGCTTAGGAGCAC 0.557000 22 12 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15166308 15166308 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:15166308G>A uc010dzv.2 + 5 800 c.588G>A c.(586-588)acG>acA p.T196T NM_012114 NP_036246 P31944 CASPE_HUMAN Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA. 196 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity p.F195Y(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 ATGTGTTCACGAAGAGGAAAG 0.552000 40 28 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19338911 19338911 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:19338911C>T uc002nlz.3 + 7 2581 c.2482C>T c.(2482-2484)Ccc>Tcc p.P828S NCAN_uc010ecc.1_Missense_Mutation_p.P392S NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 828 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CACTGTGAATCCCATGGATTC 0.567000 42 26 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21549999 21549999 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr14:21549999C>T uc001vzp.3 + 13 3001 c.2972C>T c.(2971-2973)tCc>tTc p.S991F ARHGEF40_uc001vzo.1_Missense_Mutation_p.S70F|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_Missense_Mutation_p.S277F NM_018071 NP_060541 Q8TER5 ARH40_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA. 991 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 AGCCTCAGCTCCTTGCTGCTC 0.721000 13 6 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221584 59221584 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr18:59221584G>A uc010dps.1 + 10 2214 c.2062G>A c.(2062-2064)Gag>Aag p.E688K CDH20_uc002lif.2_Missense_Mutation_p.E682K NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 688 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAACCCCCGGGAGGCGCAGGC 0.682000 80 36 0 0 1 0 0 DAB1 1600 broad.mit.edu 37 1 57480834 57480834 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:57480834G>A uc009vzx.1 - 11 1486 c.1166C>T c.(1165-1167)aCc>aTc p.T389I DAB1_uc001cyt.1_Missense_Mutation_p.T387I|DAB1_uc001cyq.1_Missense_Mutation_p.T387I|DAB1_uc001cyr.1_Missense_Mutation_p.T303I|DAB1_uc009vzw.1_Missense_Mutation_p.T371I|DAB1_uc001cys.1_Missense_Mutation_p.T389I NM_021080 NP_066566 O75553 DAB1_HUMAN Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA. 422 cell differentiation|nervous system development central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5) 64 GCCTGGGACGGTGGCAAGGGG 0.582000 49 18 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29301170 29301170 + Silent SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:29301170T>C uc004dby.2 + 2 706 c.198T>C c.(196-198)ctT>ctC p.L66L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA. 66 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ATTACTCCCTTGCCCAAAGTG 0.413000 33 25 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160033010 160033010 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:160033010C>T uc002uag.3 + 12 2157 c.1883C>T c.(1882-1884)aCt>aTt p.T628I TANC1_uc010fol.1_Missense_Mutation_p.T522I|TANC1_uc010zcm.2_Missense_Mutation_p.T620I|TANC1_uc010fom.1_Missense_Mutation_p.T434I NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA. 628 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TTGATTGTGACTGTAAGAGCA 0.318000 35 12 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29812503 29812503 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr10:29812503C>T uc001iut.1 - 14 3793 c.3040G>A c.(3040-3042)Gaa>Aaa p.E1014K SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.E588K NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 1014 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.E1014K(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TCCTTCGGTTCATCCCCGAGG 0.512000 36 19 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132161665 132161665 + Missense_Mutation SNP A G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chrX:132161665A>G uc011mvf.2 - 0 636 c.584T>C c.(583-585)tTg>tCg p.L195S USP26_uc010nrm.1_Missense_Mutation_p.L195S NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 195 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATTTTCTTTCAAGAATTCCTC 0.348000 29 19 0 0 1 0 0 SLC35D2 11046 broad.mit.edu 37 9 99083600 99083600 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:99083600G>A uc004awc.3 - 11 1014 c.938C>T c.(937-939)tCc>tTc p.S313F SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Missense_Mutation_p.S225F NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA. 313 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity p.S313S(1) endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) TGTTAAAAAGGAATATCTCAA 0.433000 61 7 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496630 20496630 + RNA SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr15:20496630G>A uc001ytf.1 + 5 c.683G>A Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. TCATGAAGGGGAAGCCGAGGG 0.438000 64 10 0 0 1 0 0 SPG7 6687 broad.mit.edu 37 16 89620245 89620245 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:89620245C>T uc002fnj.3 + 14 2001 c.1980C>T c.(1978-1980)tcC>tcT p.S660S SPG7_uc002fnl.3_Silent_p.S69S NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 660 cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1) 20 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) TCGCCTACTCCATGGTGAAGC 0.662000 35 29 0 0 1 0 0 SCGB2A1 4246 broad.mit.edu 37 11 61978009 61978009 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:61978009G>A uc001nta.2 + 1 244 c.180G>A c.(178-180)ggG>ggA p.G60G NM_002407 NP_002398 O75556 SG2A1_HUMAN Homo sapiens secretoglobin, family 2A, member 1 (SCGB2A1), mRNA. 60 extracellular region androgen binding breast(1)|kidney(1)|large_intestine(2)|lung(2) 6 AGGCTATGGGGAAATTCAAGC 0.398000 73 28 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46893151 46893151 + Silent SNP G A A rs151261586 TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:46893151G>A uc001ndn.4 - 30 4860 c.4617C>T c.(4615-4617)atC>atT p.I1539I LOC100507401_uc001ndl.3_Intron NM_002334 NP_002325 O75096 LRP4_HUMAN Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA. 1539 Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CAGCACTCTCGATCCGGTCCA 0.567000 13 5 0 0 1 0 0 SF3B4 10262 broad.mit.edu 37 1 149898276 149898277 + Missense_Mutation DNP GG AA AA TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:149898276_149898277GG>AA uc001etk.2 - 2 1190_1191 c.697_698CC>TT c.(697-699)cct>TTt p.P233F SF3B4_uc009wll.1_Missense_Mutation_p.P233F NM_005850 NP_005841 Q15427 SF3B4_HUMAN Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA. 233 U12-type spliceosomal complex|nucleoplasm RNA binding|nucleotide binding|protein binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ACCTGGTGGAGGAAGCCCAGAC 0.530000 47 24 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2226995 2226995 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr19:2226995C>T uc002lvc.1 + 12 3124 c.2357C>T c.(2356-2358)tCc>tTc p.S786F DOT1L_uc002lvb.4_Missense_Mutation_p.S1492F NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA. 1492 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGGCTCCTCCGTGCTGCAG 0.716000 21 11 0 0 1 0 0 FRS2 10818 broad.mit.edu 37 12 69968585 69968585 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr12:69968585C>T uc001suy.3 + 9 1887 c.1377C>T c.(1375-1377)ccC>ccT p.P459P FRS2_uc001suz.3_Silent_p.P459P|FRS2_uc009zrj.3_Silent_p.P459P|FRS2_uc009zrk.3_Silent_p.P459P NM_006654 NP_006645 Q8WU20 FRS2_HUMAN Homo sapiens fibroblast growth factor receptor substrate 2 (FRS2), transcript variant 1, mRNA. 459 G-protein coupled receptor protein signaling pathway|activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTACAACTCCCCTTCCACAAA 0.498000 37 26 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48315048 48315048 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:48315048C>T uc003toq.2 + 16 5809 c.5785C>T c.(5785-5787)Cca>Tca p.P1929S ABCA13_uc010kyr.2_Missense_Mutation_p.P1432S|ABCA13_uc022acp.1_Missense_Mutation_p.P428S NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 1929 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ACCGTTTGTCCCACCTTCAAT 0.363000 104 45 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739548 129739548 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:129739548G>A uc001qfg.3 - 21 3568 c.3447C>T c.(3445-3447)gtC>gtT p.V1149V NFRKB_uc001qfi.3_Silent_p.V1124V|NFRKB_uc001qfh.3_Silent_p.V1147V|NFRKB_uc010sbw.1_Silent_p.V1134V|NFRKB_uc009zcr.3_Silent_p.V410V NM_006165 NP_006156 Q6P4R8 NFRKB_HUMAN Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA. 1124 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CTGAAGTATGGACAGTTCCAG 0.592000 55 22 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195538626 195538626 + Silent SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr3:195538626G>A uc021xjp.1 - 0 219 c.63C>T c.(61-63)ctC>ctT p.L21L MUC4_uc003fvo.3_Silent_p.L21L|MUC4_uc003fvp.3_Silent_p.L21L|MUC4_uc010hzv.3_Non-coding_Transcript NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 21 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CATGCGGAAGGAGGCAGAGAC 0.647000 58 18 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78804038 78804038 + Nonsense_Mutation SNP C A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr9:78804038C>A uc004akc.2 + 18 2947 c.2409C>A c.(2407-2409)tgC>tgA p.C803* PCSK5_uc004ajz.3_Nonsense_Mutation_p.C803*|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Nonsense_Mutation_p.C77* NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 803 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GCATTAACTGCACAGAGGGCT 0.458000 29 3 6.4e-05 6.42384e-05 1 1 0 RNF213 57674 broad.mit.edu 37 17 78326855 78326855 + Silent SNP T C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr17:78326855T>C uc002jyh.2 + 33 10709 c.10566T>C c.(10564-10566)ccT>ccC p.P3522P RNF213_uc021uen.1_Silent_p.P3473P|LOC100294362_uc002jyi.2_3'UTR NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GAGACTTGCCTGAGCGTGAGT 0.632000 38 17 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28167780 28167780 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr16:28167780G>A uc002dpa.1 - 6 1213 c.712C>T c.(712-714)Ctt>Ttt p.L238F XPO6_uc002dpb.1_Missense_Mutation_p.L224F|XPO6_uc010vcp.1_Missense_Mutation_p.L238F NM_015171 NP_055986 Q96QU8 XPO6_HUMAN Homo sapiens exportin 6 (XPO6), mRNA. 238 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TCCACATCAAGGATGGGAATT 0.483000 49 24 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248344289 248344289 + Silent SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:248344289C>T uc010pzf.2 + 0 1002 c.1002C>T c.(1000-1002)ttC>ttT p.F334F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 334 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCATCTTTTTCTATGATGTCA 0.294000 47 60 0 0 1 0 0 ATAD3B 83858 broad.mit.edu 37 1 1417956 1417956 + Missense_Mutation SNP C T T TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:1417956C>T uc001afv.3 + 6 813 c.712C>T c.(712-714)Cgt>Tgt p.R238C ATAD3B_uc001afw.2_Missense_Mutation_p.R192C|ATAD3B_uc001afx.3_Missense_Mutation_p.R192C NM_031921 NP_114127 Q5T9A4 ATD3B_HUMAN Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA. 238 ATP binding|nucleoside-triphosphatase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1) 10 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGAAGGATTCCGTGCCTTTGT 0.577000 82 29 0 0 1 0 0 SOX6 55553 broad.mit.edu 37 11 16117606 16117606 + Missense_Mutation SNP A C C TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr11:16117606A>C uc001mme.3 - 8 1109 c.1076T>G c.(1075-1077)tTt>tGt p.F359C SOX6_uc001mmd.3_Intron|SOX6_uc001mmf.3_Intron|SOX6_uc001mmg.3_Missense_Mutation_p.F346C NM_001145819 NP_001139291 P35712 SOX6_HUMAN Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA. 346 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 ATTCCTGCCAAAACGGTCACT 0.418000 46 16 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + RNA SNP C T T rs75189823 by1000genomes TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr2:96593025C>T uc010yug.1 - 26 c.1888G>A ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svc.1_Non-coding_Transcript Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 45 7 0 0 1 0 0 THBS4 7060 broad.mit.edu 37 5 79378234 79378234 + Missense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr5:79378234G>A uc021yaw.1 + 20 2881 c.2690G>A c.(2689-2691)cGa>cAa p.R897Q BC047373_uc003kgi.4_Non-coding_Transcript NM_003248 NP_003239 P35443 TSP4_HUMAN Homo sapiens thrombospondin 4 (THBS4), mRNA. 897 TSP C-terminal. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) CGCAGGGTACGATTTTATGAA 0.562000 78 30 0 0 1 0 0 MEF2D 4209 broad.mit.edu 37 1 156438708 156438708 + Nonsense_Mutation SNP G A A TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:156438708G>A uc001fpc.3 - 9 1501 c.1111C>T c.(1111-1113)Cag>Tag p.Q371* MEF2D_uc001fpb.3_Nonsense_Mutation_p.Q364*|MEF2D_uc001fpd.3_Nonsense_Mutation_p.Q364*|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Nonsense_Mutation_p.Q371* NM_005920 NP_005911 Q14814 MEF2D_HUMAN Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA. 371 Gln/Pro-rich. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) tgcggctgctggggctgctgt 0.637000 52 22 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309657 1309658 + Frame_Shift_Ins INS - G G TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:1309657_1309658insG uc001afb.1 - 1 330_331 c.220_221insC c.(220-222)ctgfs p.L74fs AURKAIP1_uc001afc.2_Frame_Shift_Ins_p.L74fs|AURKAIP1_uc009vkb.1_Frame_Shift_Ins_p.L74fs|AURKAIP1_uc001afd.2_Frame_Shift_Ins_p.L74fs NM_017900 NP_060370 Q9NWT8 AKIP_HUMAN Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA. 74 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCAGCTCTCCAGGGGGCTGACG 0.693 --- 43 --- --- 20 --- CLSPN 63967 broad.mit.edu 37 1 36219442 36219453 + In_Frame_Del DEL CTTTCACTATGA - - TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr1:36219442_36219453delCTTTCACTATGA uc001bzi.3 - 8 1744_1755 c.1664_1675delTCATAGTGAAAG c.(1663-1677)gtcatagtgaaagac>gac p.VIVK555del CLSPN_uc009vux.3_Intron NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN Homo sapiens claspin (CLSPN), transcript variant 1, mRNA. 555 DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm DNA binding|anaphase-promoting complex binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GTGCCCATGTCTTTCACTATGACGTTCACATT 0.481 --- 68 --- --- 28 --- HGFAC 3083 broad.mit.edu 37 4 3447064 3447064 + Frame_Shift_Del DEL C - - TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr4:3447064delC uc003ghc.3 + 8 1092 c.1089delC c.(1087-1089)cgcfs p.R363fs HGFAC_uc010icw.3_Frame_Shift_Del_p.R363fs NM_001528 NP_001519 Q04756 HGFA_HUMAN Homo sapiens HGF activator (HGFAC), mRNA. 363 Kringle. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AGTACTGCCGCCTGGAGGCCT 0.677 --- 4 --- --- 2 --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG - - TCGA-GF-A6C8-06A-12D-A30X-08 TCGA-GF-A6C8-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx a5ba1709-2930-4f57-b52a-ba46fe4f316a e786df8a-2675-42bd-8aa8-158c4a24fa68 g.chr7:30634583_30634585delCTG uc003tbm.3 + 0 403_405 c.46_48delCTG c.(46-48)ctgdel p.L20del LOC401320_uc003tbj.2_5'Flank|LOC401320_uc010kvv.3_5'Flank NM_002047 NP_002038 P41250 SYG_HUMAN Homo sapiens glycyl-tRNA synthetase (GARS), mRNA. 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 --- 24 --- --- 7 ---