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 HLCS 3141 broad.mit.edu 37 21 38137355 38137355 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:38137355G>A uc010gnb.3 - 8 3052 c.1638C>T c.(1636-1638)tcC>tcT p.S546S HLCS_uc021wjb.1_Silent_p.S546S|HLCS_uc002yvs.3_Silent_p.S546S NM_001242784 NP_001229713 P50747 BPL1_HUMAN Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA. 546 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CGACAGCCACGGACATCAGAT 0.532000 79 10 0 0 0.006214 0 0 C1orf9 51430 broad.mit.edu 37 1 172522443 172522443 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:172522443C>T uc001giq.4 + 2 537 c.221C>T c.(220-222)tCa>tTa p.S74L C1orf9_uc010pmm.1_Missense_Mutation_p.S74L|C1orf9_uc009wwd.3_Intron|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA. 74 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1) 35 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) TTGGGAAAATCAGGTTCAAAT 0.303000 96 36 0 0 0.006230 0 0 CAPN9 10753 broad.mit.edu 37 1 230907770 230907770 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:230907770G>A uc001htz.1 + 6 913 c.800G>A c.(799-801)cGa>cAa p.R267Q CAPN9_uc009xfg.1_Missense_Mutation_p.R204Q|CAPN9_uc001hua.1_Missense_Mutation_p.R267Q NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 267 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GTAAGCTTCCGAGGCCAGAGA 0.537000 110 16 0 0 0.004990 0 0 MUC17 140453 broad.mit.edu 37 7 100677647 100677647 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100677647C>T uc003uxp.1 + 2 3003 c.2950C>T c.(2950-2952)Cca>Tca p.P984S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 984 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) AGGAACGACTCCATTAACAAG 0.512000 319 81 0 0 0.014410 0 0 DMRTB1 63948 broad.mit.edu 37 1 53925162 53925162 + Silent SNP G A A rs150523807 byFrequency TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:53925162G>A uc001cvq.1 + 0 91 c.36G>A c.(34-36)tcG>tcA p.S12S NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA. 12 sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.S12S(2) large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CCAAGTGCTCGAGATGCAGGA 0.612000 30 7 0 0 0.004482 0 0 PDE6C 5146 broad.mit.edu 37 10 95400236 95400236 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:95400236G>A uc001kiu.4 + 12 1797 c.1659G>A c.(1657-1659)agG>agA p.R553R NM_006204 NP_006195 P51160 PDE6C_HUMAN Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA. 553 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACACTGTGAGGAAAGGGTACC 0.443000 57 23 0 0 0.006320 0 0 OR2G6 391211 broad.mit.edu 37 1 248684993 248684993 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:248684993G>A uc001ien.1 + 0 46 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTCTCCTGGGATTTTCAGA 0.423000 84 28 0 0 0.010818 0 0 FLNC 2318 broad.mit.edu 37 7 128480651 128480651 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:128480651C>T uc003vnz.4 + 9 1808 c.1599C>T c.(1597-1599)ttC>ttT p.F533F FLNC_uc003voa.4_Silent_p.F533F NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 533 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 ATGGTGTGTTCGAGTGCGAGT 0.617000 93 24 0 0 0.003330 0 0 MORF4L1 10933 broad.mit.edu 37 15 79185883 79185883 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:79185883C>T uc002bel.3 + 9 848 c.660C>T c.(658-660)ctC>ctT p.L220L MORF4L1_uc002bem.3_Silent_p.L181L|MORF4L1_uc010une.2_Silent_p.L93L NM_206839 NP_996670 Q9UBU8 MO4L1_HUMAN Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA. 220 Interaction with RB1-1.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone H2A acetylation|histone H4 acetylation|histone deacetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 CTTCATAGCTCTTTTATCTTC 0.308000 65 10 0 0 0.008291 0 0 STC1 6781 broad.mit.edu 37 8 23708887 23708887 + Missense_Mutation SNP C T T rs150986463 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:23708887C>T uc003xdw.1 - 2 703 c.419G>A c.(418-420)cGg>cAg p.R140Q NM_003155 NP_003146 P52823 STC1_HUMAN Homo sapiens stanniocalcin 1 (STC1), mRNA. 140 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TTCAGGGTTCCGCTTGGCGAT 0.532000 108 20 0 0 0.012319 0 0 DOCK2 1794 broad.mit.edu 37 5 169506118 169506118 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:169506118G>A uc003maf.3 + 48 5214 c.5134G>A c.(5134-5136)Gag>Aag p.E1712K DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.E1204K|DOCK2_uc003mah.3_Missense_Mutation_p.E268K NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1712 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTTGCGGATGAGAAAGCAGC 0.572000 39 12 0 0 0.002450 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996335 140996335 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:140996335G>A uc004fbt.3 + 3 3469 c.3145G>A c.(3145-3147)Gtg>Atg p.V1049M MAGEC1_uc010nsl.2_Missense_Mutation_p.V116M|MAGEC1_uc022cfi.1_Missense_Mutation_p.V708M NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 1049 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TAAAGTTTGGGTGCAGGAACA 0.542000 HNSCC(15;0.026) 65 14 0 0 0.001855 0 0 SERPINB11 89778 broad.mit.edu 37 18 61387272 61387272 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:61387272G>A uc002ljk.4 + 6 669 c.498G>A c.(496-498)aaG>aaA p.K166K SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_Silent_p.K53K|SERPINB11_uc002ljj.4_Silent_p.K53K|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA. 167 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TCTTTGGAAAGAGCACAATTG 0.328000 45 14 0 0 0.003163 0 0 TACR2 6865 broad.mit.edu 37 10 71164782 71164782 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:71164782C>T uc001jpn.2 - 4 1592 c.997G>A c.(997-999)Gaa>Aaa p.E333K TACR2_uc001jpm.2_Missense_Mutation_p.E121K NM_001057 NP_001048 P21452 NK2R_HUMAN Homo sapiens tachykinin receptor 2 (TACR2), mRNA. 333 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) AGCTTATCTTCCTTGGTGGGT 0.607000 69 15 0 0 0.004007 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117787 117787 + RNA SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrGL000205.1:117787G>A uc002kgk.4 + 0 c.1165G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGCCTTTGCAGGATGGGATCG 0.567000 70 8 0 0 0.003080 0 0 OR5M1 390168 broad.mit.edu 37 11 56380100 56380100 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:56380100C>T uc001nja.1 - 0 879 c.879G>A c.(877-879)cgG>cgA p.R293R OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 CATCTGTGTTCCGTAGGCTAT 0.393000 102 25 0 0 0.009535 0 0 CABLES2 81928 broad.mit.edu 37 20 60971643 60971643 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:60971643C>T uc002ycv.2 - 1 375 c.368G>A c.(367-369)cGa>cAa p.R123Q NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Homo sapiens Cdk5 and Abl enzyme substrate 2 (CABLES2), mRNA. 123 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGACGTGACTCGCTTCCTGCA 0.647000 11 4 0 0 0.009096 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430958 37430958 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:37430958G>A uc021ppc.1 + 6 1064 c.965G>A c.(964-966)gGa>gAa p.G322E ANKRD30A_uc001iza.1_Missense_Mutation_p.G322E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 378 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCAGCAAAAGGAAGACCTAGG 0.433000 61 16 0 0 0.006122 0 0 CEL 1056 broad.mit.edu 37 9 135946651 135946651 + Missense_Mutation SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:135946651T>G uc010naa.1 + 10 1787 c.1771T>G c.(1771-1773)Tcc>Gcc p.S591A NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 588 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CACGGGTGACTCCGGGGCCCC 0.806000 26 3 0 0 0.009096 0 0 KBTBD6 89890 broad.mit.edu 37 13 41706525 41706525 + Missense_Mutation SNP C A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:41706525C>A uc001uxu.1 - 0 412 c.123G>T c.(121-123)aaG>aaT p.K41N AK056182_uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA. 41 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GGGCCGTGTCCTTTAATTCCT 0.607000 90 25 1.66031e-10 1.94409e-10 0.003954 1 0 TNN 63923 broad.mit.edu 37 1 175097807 175097807 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:175097807C>T uc001gkl.1 + 14 3368 c.3255C>T c.(3253-3255)acC>acT p.T1085T NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 1085 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTCTGTACACCATCTACCTGC 0.597000 81 33 0 0 0.013726 0 0 CHRM3 1131 broad.mit.edu 37 1 240071148 240071148 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:240071148C>T uc021plc.1 + 0 397 c.397C>T c.(397-399)Cga>Tga p.R133* CHRM3_uc001hyp.3_Nonsense_Mutation_p.R133* NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 133 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CATCATGAATCGATGGGCCTT 0.478000 81 10 0 0 0.008291 0 0 GPR98 84059 broad.mit.edu 37 5 90281229 90281229 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:90281229C>T uc003kju.3 + 84 18138 c.18042C>T c.(18040-18042)ttC>ttT p.F6014F GPR98_uc003kjt.3_Silent_p.F3720F|GPR98_uc003kjw.3_Silent_p.F1675F|GPR98_uc003kjx.3_Silent_p.F42F NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 6014 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 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) TGCTGTTTTTCCTTCTGAGTT 0.413000 27 8 0 0 0.003080 0 0 KCNT1 57582 broad.mit.edu 37 9 138678108 138678108 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:138678108C>T uc011mdq.2 + 28 3317 c.3243C>T c.(3241-3243)tcC>tcT p.S1081S KCNT1_uc011mdr.2_Silent_p.S908S|KCNT1_uc010nbf.3_Silent_p.S1036S|KCNT1_uc004cgo.1_3'UTR NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 1081 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCTGGGGCTCCCGCGCTGGCA 0.731000 17 9 0 0 0.010729 0 0 LRCH4 4034 broad.mit.edu 37 7 100179450 100179450 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100179450G>A uc003uvj.3 - 3 601 c.548C>T c.(547-549)tCc>tTc p.S183F LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjx.1_Non-coding_Transcript NM_002319 NP_002310 O75427 LRCH4_HUMAN Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA. 183 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCCCGCAGGGAAGAGAGGCC 0.587000 36 11 0 0 0.010729 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988095 154988095 + Missense_Mutation SNP C A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:154988095C>A uc001fgj.4 + 4 1346 c.1061C>A c.(1060-1062)tCc>tAc p.S354Y ZBTB7B_uc009wpa.3_Missense_Mutation_p.S320Y|ZBTB7B_uc001fgk.4_Missense_Mutation_p.S320Y|ZBTB7B_uc010peq.2_Missense_Mutation_p.S354Y|ZBTB7B_uc001fgl.4_Missense_Mutation_p.S320Y NM_015872 NP_056956 O15156 ZBT7B_HUMAN Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA. 320 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TACCTAAGCTCCCTGCACCAG 0.652000 42 11 3.07112e-06 3.56106e-06 0.010729 1 0 PRRC2A 7916 broad.mit.edu 37 6 31593278 31593278 + Nonsense_Mutation SNP G T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:31593278G>T uc003nvb.4 + 6 898 c.649G>T c.(649-651)Gag>Tag p.E217* PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Nonsense_Mutation_p.E217*|PRRC2A_uc003nve.3_3'UTR NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 217 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 TGGCCCTGATGAGCTGGAGGG 0.552000 90 16 1.15088e-07 1.33708e-07 0.004007 1 0 LRRC15 131578 broad.mit.edu 37 3 194080933 194080933 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:194080933G>A uc003ftt.3 - 2 983 c.858C>T c.(856-858)tcC>tcT p.S286S LRRC15_uc003ftu.3_Silent_p.S280S|LRRC15_uc021xiy.1_Silent_p.S280S NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 280 P -> L (in dbSNP:rs13070515). integral to membrane p.S280S(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GCTCCTTCAGGGAATTCCCAA 0.557000 42 11 0 0 0.010729 0 0 PIK3R5 23533 broad.mit.edu 37 17 8808203 8808203 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:8808203G>A uc002glt.3 - 4 370 c.303C>T c.(301-303)ctC>ctT p.L101L PIK3R5_uc010vuz.2_Silent_p.L101L|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 101 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCTTCAGAAGGAGATCCGAGT 0.537000 52 10 0 0 0.008291 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994420 91994420 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:91994420G>A uc004aqo.1 - 17 2360 c.1788C>T c.(1786-1788)gcC>gcT p.A596A SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.A596A NM_006378 NP_006369 Q92854 SEM4D_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA. 596 Ig-like C2-type. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TGGGGCTCTCGGCCTTCAACA 0.517000 200 59 0 0 0.014410 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655749 138655749 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:138655749G>A uc003qhu.3 + 32 5937 c.5766G>A c.(5764-5766)ctG>ctA p.L1922L NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 1922 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACTTGGACCTGGAGAACTGTA 0.572000 45 5 0 0 0.001168 0 0 TRPV6 55503 broad.mit.edu 37 7 142572879 142572879 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:142572879G>A uc003wbx.2 - 8 1390 c.1161C>T c.(1159-1161)gtC>gtT p.V387V TRPV6_uc003wbw.1_Silent_p.V173V|TRPV6_uc010lou.1_Silent_p.V258V NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 387 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CCAGCTCCCCGACCAGCCGGA 0.567000 90 26 0 0 0.005443 0 0 JHDM1D 80853 broad.mit.edu 37 7 139810919 139810919 + Silent SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:139810919A>G uc003vvm.3 - 10 1408 c.1404T>C c.(1402-1404)ctT>ctC p.L468L JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 468 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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 central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTACTTTAGAAAGTTCTTTAA 0.338000 52 12 0 0 0.001855 0 0 TTN 7273 broad.mit.edu 37 2 179472297 179472297 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:179472297C>T uc021vsy.1 - 225 45639 c.45414G>A c.(45412-45414)tgG>tgA p.W15138* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W8833*|TTN_uc021vta.1_Nonsense_Mutation_p.W8766*|TTN_uc021vtb.1_Nonsense_Mutation_p.W8641* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16065 Fibronectin type-III 10. 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) CTTCTTTGGTCCATACTTTTG 0.438000 142 35 0 0 0.005524 0 0 KIAA1257 57501 broad.mit.edu 37 3 128706457 128706457 + Splice_Site SNP A C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:128706457A>C uc003elj.4 - 4 863 c.667_splice c.e4+1 p.E223_splice KIAA1257_uc003elg.1_Splice_Site_p.E223_splice|KIAA1257_uc003eli.4_Splice_Site_p.E111_splice NM_020741 NP_065792 Q9ULG3 K1257_HUMAN Homo sapiens KIAA1257 (KIAA1257), mRNA. 223 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AAACCAGAGCACCTGACTTAT 0.443000 65 13 0 0 0.002450 0 0 OR14I1 401994 broad.mit.edu 37 1 248845431 248845431 + Missense_Mutation SNP A C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:248845431A>C uc001ieu.1 - 0 175 c.175T>G c.(175-177)Ttc>Gtc p.F59V NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA. 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TTCAGGAAGAAGTACATGGGT 0.502000 37 16 0 0 0.005443 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261928 125261928 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:125261928C>T uc010flu.3 + 7 1486 c.1122C>T c.(1120-1122)tcC>tcT p.S374S CNTNAP5_uc002tno.3_Silent_p.S373S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 373 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGTCAACTCCAGCGGCAGCT 0.463000 70 19 0 0 0.008871 0 0 ZNF98 148198 broad.mit.edu 37 19 22585612 22585612 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:22585612C>T uc002nqt.2 - 2 354 c.232G>A c.(232-234)Gag>Aag p.E78K NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTTACCATCTCATGTCTCTTC 0.413000 120 13 0 0 0.001855 0 0 LPPR1 54886 broad.mit.edu 37 9 104079699 104079699 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:104079699C>T uc004bbb.3 + 6 1265 c.866C>T c.(865-867)cCc>cTc p.P289L LPPR1_uc011lvi.2_Missense_Mutation_p.P265L|LPPR1_uc004bbc.3_Missense_Mutation_p.P289L|LPPR1_uc010mtc.3_Missense_Mutation_p.P273L NM_207299 NP_997182 Q8TBJ4 LPPR1_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA. 289 integral to membrane catalytic activity CCTTCCAAACCCAAGCCTGAG 0.488000 166 40 0 0 0.007835 0 0 ADORA1 134 broad.mit.edu 37 1 203134704 203134704 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:203134704C>T uc010pqh.1 + 2 793 c.756C>T c.(754-756)tcC>tcT p.S252S ADORA1_uc001gzf.1_Silent_p.S219S|ADORA1_uc001gze.1_Silent_p.S219S|ADORA1_uc010pqg.1_Silent_p.S151S|ADORA1_uc009xak.1_Missense_Mutation_p.R145W NM_001048230 NP_001041695 P30542 AA1R_HUMAN Homo sapiens adenosine A1 receptor (ADORA1), transcript variant 2, mRNA. 219 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane p.S219S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CGGCCTCCTCCGGCGACCCGC 0.582000 85 18 0 0 0.012319 0 0 KCNH4 23415 broad.mit.edu 37 17 40332925 40332926 + Missense_Mutation DNP GG AA AA TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:40332925_40332926GG>AA uc002hzb.2 - 0 371_372 c.38_39CC>TT c.(37-39)acc>aTT p.T13I NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 13 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TGTCCAGGAAGGTGTTTTGCGG 0.693000 104 27 0 0 0.004672 0 0 ACADSB 36 broad.mit.edu 37 10 124810604 124810604 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:124810604G>A uc001lhb.3 + 8 1147 c.1030G>A c.(1030-1032)Gaa>Aaa p.E344K ACADSB_uc010qub.2_Missense_Mutation_p.E242K NM_001609 NP_001600 P45954 ACDSB_HUMAN Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA. 344 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) CACCCAGCTGGAAGCTGCAAG 0.458000 26 10 0 0 0.010729 0 0 CEP57 9702 broad.mit.edu 37 11 95532426 95532426 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:95532426G>A uc001pfp.2 + 1 314 c.76G>A c.(76-78)Gga>Aga p.G26R CEP57_uc001pfo.2_Missense_Mutation_p.G26R|CEP57_uc009ywn.2_5'UTR|CEP57_uc010ruh.2_Missense_Mutation_p.G17R|CEP57_uc001pfq.2_Missense_Mutation_p.G26R|CEP57_uc001pfr.2_5'UTR NM_014679 NP_055494 Q86XR8 CEP57_HUMAN Homo sapiens centrosomal protein 57kDa (CEP57), transcript variant 1, mRNA. 26 G2/M transition of mitotic cell cycle|fibroblast growth factor receptor signaling pathway|protein import into nucleus, translocation|spermatid development Golgi apparatus|centrosome|cytosol|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAGGTCTAATGGAAGCATGGT 0.378000 Mosaic Variegated Aneuploidy Syndrome 38 15 0 0 0.004007 0 0 CCDC3 83643 broad.mit.edu 37 10 12940427 12940427 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:12940427G>A uc001ilq.1 - 2 936 c.802C>T c.(802-804)Ctg>Ttg p.L268L CCDC3_uc009xjb.1_Non-coding_Transcript|CCDC3_uc001ilr.2_Non-coding_Transcript|CCDC3_uc009xjc.1_Non-coding_Transcript|CCDC3_uc021pna.1_Non-coding_Transcript NM_031455 NP_113643 Q9BQI4 CCDC3_HUMAN Homo sapiens coiled-coil domain containing 3 (CCDC3), mRNA. 268 endoplasmic reticulum|extracellular region p.Y267C(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) TACCCCCGCAGGTAGGGGGGG 0.647000 27 5 0 0 0.000602 0 0 PACS1 55690 broad.mit.edu 37 11 65983685 65983685 + Silent SNP C A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65983685C>A uc001oha.2 + 4 890 c.756C>A c.(754-756)tcC>tcA p.S252S PACS1_uc001ogz.1_Silent_p.S252S NM_018026 NP_060496 Q6VY07 PACS1_HUMAN Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA. 252 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding p.S252C(1) RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 AGATCTACTCCCTGTCCAGCC 0.517000 40 13 0.000151284 0.000175079 0.001855 1 0 TTLL2 83887 broad.mit.edu 37 6 167754956 167754956 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:167754956C>T uc003qvs.1 + 2 1656 c.1568C>T c.(1567-1569)cCc>cTc p.P523L NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA. 523 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) ACACTCATGCCCTACGCGTCC 0.562000 63 25 0 0 0.005443 0 0 MICALL2 79778 broad.mit.edu 37 7 1484390 1484391 + Missense_Mutation DNP GG AA AA TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:1484390_1484391GG>AA uc003skj.4 - 5 1462_1463 c.1315_1316CC>TT c.(1315-1317)ccg>TTg p.P439L MICALL2_uc003ski.4_5'Flank NM_182924 NP_891554 Q8IY33 MILK2_HUMAN Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA. 439 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) AACAAGTGACGGGGTGGGACCT 0.644000 20 4 0 0 0.004672 0 0 SLC22A18 5002 broad.mit.edu 37 11 2946301 2946301 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:2946301C>T uc001lwx.3 + 10 1367 c.1149C>T c.(1147-1149)gtC>gtT p.V383V SLC22A18_uc001lwy.3_Silent_p.V383V NM_183233 NP_899056 Q96BI1 S22AI_HUMAN Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA. 383 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) GACCCACGGTCGGCGGCCTCC 0.642000 467 102 0 0 0.014410 0 0 MUC3A 4584 broad.mit.edu 37 7 100552193 100552193 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100552193C>T uc003uxl.1 + 0 1444 c.644C>T c.(643-645)tCc>tTc p.S215F MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCTTATATTTCCCTTCCCTCC 0.488000 326 26 0 0 0.005443 0 0 SPP1 6696 broad.mit.edu 37 4 88903719 88903719 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:88903719C>T uc003hra.3 + 6 781 c.616C>T c.(616-618)Ccc>Tcc p.P206S SPP1_uc011cde.2_Missense_Mutation_p.P219S|SPP1_uc003hrb.3_Missense_Mutation_p.P179S|SPP1_uc003hrc.3_Missense_Mutation_p.P192S|SPP1_uc003hrd.3_Missense_Mutation_p.P165S NM_001040058 NP_001035147 P10451 OSTP_HUMAN Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA. 206 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CAAGGCCATCCCCGTTGCCCA 0.527000 72 9 0 0 0.010729 0 0 PIBF1 10464 broad.mit.edu 37 13 73482807 73482807 + Missense_Mutation SNP C G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:73482807C>G uc001vjc.3 + 11 1932 c.1627C>G c.(1627-1629)Caa>Gaa p.Q543E PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.Q543E|PIBF1_uc010aep.3_Missense_Mutation_p.Q2E NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 543 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AATAATAATGCAAACTGCAGA 0.378000 20 9 0 0 0.006214 0 0 PCDHGB8P 56120 broad.mit.edu 37 5 140807612 140807612 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140807612C>T uc011daz.2 + 0 1760 c.1401C>T c.(1399-1401)acC>acT p.T467T PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_5'Flank|PCDHGC5_uc003lkt.2_5'Flank Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA. ACCTGGTGACCAAGGTGGTGG 0.652000 38 11 0 0 0.013537 0 0 CUL9 23113 broad.mit.edu 37 6 43153911 43153911 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:43153911C>T uc003ouk.3 + 3 1044 c.969C>T c.(967-969)ctC>ctT p.L323L CUL9_uc003ouj.1_Silent_p.L323L|CUL9_uc003oul.3_Silent_p.L323L|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 323 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCCGGAACCTCAGCGAACAGG 0.607000 94 14 0 0 0.004007 0 0 CDC25A 993 broad.mit.edu 37 3 48226167 48226167 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:48226167G>A uc003csh.1 - 2 630 c.266C>T c.(265-267)cCt>cTt p.P89L CDC25A_uc003csi.1_Missense_Mutation_p.P89L|CDC25A_uc021wxk.1_Missense_Mutation_p.P89L NM_001789 NP_001780 P30304 MPIP1_HUMAN Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA. 89 DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CAATGGCCCAGGAGAATCTAG 0.289000 27 5 0 0 0.000602 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438313 204438313 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:204438313C>T uc001haw.3 - 2 1097 c.618G>A c.(616-618)cgG>cgA p.R206R PIK3C2B_uc010pqv.2_Silent_p.R206R|PIK3C2B_uc001hax.1_Silent_p.R206R|PIK3C2B_uc009xbd.1_Non-coding_Transcript NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 206 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding p.R206L(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTTCTAGGATCCGATGCTCTA 0.537000 276 118 0 0 0.014410 0 0 NOX5 79400 broad.mit.edu 37 15 69347814 69347814 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:69347814C>T uc002ars.2 + 14 2181 c.2140C>T c.(2140-2142)Cag>Tag p.Q714* MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.Q668*|NOX5_uc002arp.2_Nonsense_Mutation_p.Q696*|NOX5_uc010bid.2_Nonsense_Mutation_p.Q679*|NOX5_uc010bie.2_Nonsense_Mutation_p.Q514*|NOX5_uc002arr.2_Nonsense_Mutation_p.Q686*|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 714 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GACGCGCACCCAGCCTGGGCG 0.607000 43 11 0 0 0.010729 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720137 160720137 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:160720137C>T uc001fwq.3 + 3 708 c.693C>T c.(691-693)ctC>ctT p.L231L SLAMF7_uc010pjn.2_Silent_p.L137L|SLAMF7_uc001fws.3_Silent_p.L124L|SLAMF7_uc001fwr.3_Silent_p.L231L|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Intron NM_021181 NP_067004 Q9NQ25 SLAF7_HUMAN Homo sapiens SLAM family member 7 (SLAMF7), mRNA. 231 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCCTGTGTCTCCTGTTGGTGC 0.507000 158 82 0 0 0.014410 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463331 5463331 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:5463331C>T uc003jdm.4 + 12 4106 c.3884C>T c.(3883-3885)aCc>aTc p.T1295I NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1295 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AACAACATGACCACTGAGAAT 0.408000 11 5 0 0 0.001168 0 0 GDAP1 54332 broad.mit.edu 37 8 75276235 75276235 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:75276235C>T uc003yah.3 + 5 789 c.710C>T c.(709-711)cCt>cTt p.P237L GDAP1_uc011lfj.2_Missense_Mutation_p.P122L|GDAP1_uc003yai.3_Missense_Mutation_p.P169L NM_018972 NP_001035808 Q8TB36 GDAP1_HUMAN Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA. 237 GST C-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) GGCCAGCAACCTTGGCTCTGC 0.512000 29 35 0 0 0.013726 0 0 CYTH4 27128 broad.mit.edu 37 22 37708184 37708184 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:37708184G>A uc003arf.3 + 11 1197 c.1081G>A c.(1081-1083)Gag>Aag p.E361K CYTH4_uc011amw.2_Missense_Mutation_p.E304K NM_013385 NP_037517 Q9UIA0 CYH4_HUMAN Homo sapiens cytohesin 4 (CYTH4), mRNA. 361 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 CACCAGTGCCGAGGAACGTGA 0.612000 34 13 0 0 0.002450 0 0 BRCA2 675 broad.mit.edu 37 13 32914693 32914693 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:32914693C>T uc001uub.1 + 10 6428 c.6201C>T c.(6199-6201)tcC>tcT p.S2067S NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2067 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGCAAGTTTCCATTTTAGAAA 0.348000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 29 14 0 0 0.001855 0 0 ENG 2022 broad.mit.edu 37 9 130605473 130605473 + Missense_Mutation SNP C T T rs11545665 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:130605473C>T uc004bsj.4 - 1 532 c.119G>A c.(118-120)gGc>gAc p.G40D ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Missense_Mutation_p.G40D|5S_rRNA_uc022bnt.1_5'Flank NM_001114753 NP_001108225 P17813 EGLN_HUMAN Homo sapiens endoglin (ENG), transcript variant 1, mRNA. 40 BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 TGTCACCTCGCCCCTCTCGGG 0.562000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 88 31 0 0 0.010818 0 0 OR5B3 441608 broad.mit.edu 37 11 58170825 58170825 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:58170825C>T uc010rkf.2 - 0 58 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACCTGCAGTTCTGAGTCATTG 0.403000 47 6 0 0 0.004482 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18657708 18657708 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:18657708G>A uc003zne.4 + 7 1058 c.906G>A c.(904-906)agG>agA p.R302R ADAMTSL1_uc003znb.3_Silent_p.R302R|ADAMTSL1_uc003znc.4_Silent_p.R302R NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA. 302 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ACCGATGGAGGGAGACGGATT 0.463000 58 8 0 0 0.008291 0 0 SCAF4 57466 broad.mit.edu 37 21 33060664 33060664 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:33060664G>A uc002ypd.2 - 15 2425 c.1999C>T c.(1999-2001)Cct>Tct p.P667S SCAF4_uc002ype.2_Missense_Mutation_p.P667S|SCAF4_uc010glu.2_Missense_Mutation_p.P652S|SCAF4_uc002ypf.1_Missense_Mutation_p.P341S NM_020706 NP_065757 O95104 SFR15_HUMAN Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA. 667 nucleus RNA binding|nucleotide binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGAATAGGAGGGACAGGCACA 0.448000 107 19 0 0 0.012319 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895623 24895623 + Missense_Mutation SNP A T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:24895623A>T uc001upj.3 + 3 780 c.719A>T c.(718-720)aAa>aTa p.K240I SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 240 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GCAGCGGGGAAATTCACGTGC 0.413000 136 18 0 0 0.012319 0 0 MYBPC3 4607 broad.mit.edu 37 11 47361206 47361206 + Missense_Mutation SNP G A A rs3729946 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:47361206G>A uc021qis.1 - 20 2118 c.2063C>T c.(2062-2064)aCg>aTg p.T688M MYBPC3_uc021qir.1_Missense_Mutation_p.T340M|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 687 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CAGTACCTGCGTGATAGCCTT 0.552000 3 4 0 0 0.009096 0 0 TBX21 30009 broad.mit.edu 37 17 45822469 45822469 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:45822469C>T uc002ilv.1 + 5 1556 c.1345C>T c.(1345-1347)Cgc>Tgc p.R449C NM_013351 NP_037483 Q9UL17 TBX21_HUMAN Homo sapiens T-box 21 (TBX21), mRNA. 449 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.F448L(2) NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAGCTGGTTCCGCCCTATGCG 0.677000 24 8 0 0 0.006214 0 0 FBXW9 84261 broad.mit.edu 37 19 12800953 12800953 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:12800953G>A uc010dyx.2 - 5 915 c.915C>T c.(913-915)atC>atT p.I305I FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA. 315 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GGTGAGGAGGGATATCAGAGC 0.642000 36 6 0 0 0.001168 0 0 DSG1 1828 broad.mit.edu 37 18 28923429 28923429 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:28923429G>A uc002kwp.3 + 11 1916 c.1704G>A c.(1702-1704)atG>atA p.M568I DSG1_uc010xbp.2_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 568 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CATTTTTGATGATCTGTTGTG 0.428000 134 19 0 0 0.010504 0 0 CNBD1 168975 broad.mit.edu 37 8 88249305 88249305 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:88249305C>T uc003ydy.2 + 5 784 c.736C>T c.(736-738)Ctt>Ttt p.L246F NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA. 246 p.T245T(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AAACTCTACACTTGCTGAGAT 0.373000 72 11 0 0 0.013537 0 0 DCBLD1 285761 broad.mit.edu 37 6 117825084 117825084 + Silent SNP C T T rs76896058 byFrequency TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:117825084C>T uc003pxs.3 + 1 392 c.267C>T c.(265-267)atC>atT p.I89I ROS1_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.I89I NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN Homo sapiens discoidin, CUB and LCCL domain containing 1 (DCBLD1), mRNA. 89 CUB. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) ATTTGGATATCGAATCCCAGA 0.413000 58 22 0 0 0.003954 0 0 FAM222B 55731 broad.mit.edu 37 17 27086634 27086635 + Missense_Mutation DNP CC TT TT TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:27086634_27086635CC>TT uc002hct.1 - 2 609_610 c.342_343GG>AA c.(340-345)aaggac>aaAAac p.D115N FAM222B_uc010wax.1_Missense_Mutation_p.D115N|FAM222B_uc010way.1_Missense_Mutation_p.D115N|FAM222B_uc002hcw.3_5'UTR NM_018182 NP_060652 Q8WU58 CQ063_HUMAN Homo sapiens chromosome 17 open reading frame 63 (C17orf63), transcript variant 2, mRNA. 115 CCGTCAAAGTCCTTGAGTATGC 0.609000 12 6 0 0 0.004672 0 0 SPACA1 81833 broad.mit.edu 37 6 88773912 88773912 + Silent SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:88773912T>C uc003pmn.3 + 5 823 c.706T>C c.(706-708)Tta>Cta p.L236L NM_030960 NP_112222 Q9HBV2 SACA1_HUMAN Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA. 236 integral to membrane p.F235V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 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;0.11) TATAATTTTCTTATTGATCTT 0.393000 40 16 0 0 0.004007 0 0 SAMD14 201191 broad.mit.edu 37 17 48193396 48193396 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:48193396C>T uc002iqf.3 - 4 857 c.558G>A c.(556-558)aaG>aaA p.K186K SAMD14_uc002iqe.3_5'UTR|SAMD14_uc002iqg.3_Silent_p.K186K NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA. 186 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GGCGAGTCTTCTTATCGAGGC 0.627000 30 5 0 0 0.003080 0 0 WDR96 80217 broad.mit.edu 37 10 105938826 105938826 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:105938826C>T uc001kxw.3 - 18 2537 c.2421G>A c.(2419-2421)agG>agA p.R807R WDR96_uc009xxq.3_Silent_p.R115R|WDR96_uc001kxx.4_Silent_p.R808R NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN Homo sapiens WD repeat domain 96 (WDR96), mRNA. 807 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTATCTCTTTCCTTTTCTTGG 0.323000 30 8 0 0 0.003080 0 0 F2 2147 broad.mit.edu 37 11 46747451 46747451 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:46747451G>A uc001ndf.4 + 6 645 c.602G>A c.(601-603)gGc>gAc p.G201D NM_000506 NP_000497 P00734 THRB_HUMAN Homo sapiens coagulation factor II (thrombin) (F2), mRNA. 201 STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CGCTCCGAAGGCTCCAGTGTG 0.622000 77 30 0 0 0.009535 0 0 RELN 5649 broad.mit.edu 37 7 103202103 103202103 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:103202103G>A uc022ajr.1 - 35 5565 c.5405C>T c.(5404-5406)tCg>tTg p.S1802L RELN_uc022ajq.1_Missense_Mutation_p.S1802L|RELN_uc010liz.3_Missense_Mutation_p.S1802L NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1802 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S1802L(2) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTTAAGAATCGAGGGCAGAGG 0.463000 19 5 0 0 0.000602 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835271 12835271 + Silent SNP A C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12835271A>C uc001aui.3 + 0 288 c.261A>C c.(259-261)gcA>gcC p.A87A NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 87 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTGATGCACTGCTTGCCC 0.587000 56 30 0 0 0.013726 0 0 RTN2 6253 broad.mit.edu 37 19 45997625 45997625 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:45997625G>A uc002pcb.3 - 3 843 c.613C>T c.(613-615)Ccc>Tcc p.P205S RTN2_uc002pcc.3_Missense_Mutation_p.P205S|RTN2_uc002pcd.3_Non-coding_Transcript NM_005619 NP_005610 O75298 RTN2_HUMAN Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA. 205 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CTGAGCTGGGGAGTCAAGACC 0.612000 34 10 0 0 0.010729 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G A A rs4660360 by1000genomes TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:47325354G>A uc001cqo.1 - 8 c.1214C>T Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. CATCTGGAAAGGTAATGGGTT 0.438000 76 6 0 0 0.003080 0 0 CA14 23632 broad.mit.edu 37 1 150236068 150236068 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:150236068G>A uc001etx.3 + 8 1158 c.852G>A c.(850-852)tcG>tcA p.S284S NM_012113 NP_036245 Q9ULX7 CAH14_HUMAN Homo sapiens carbonic anhydrase XIV (CA14), mRNA. 284 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGATCCTCGTATACCACAG 0.542000 184 28 0 0 0.008361 0 0 AP1B1 162 broad.mit.edu 37 22 29726639 29726639 + Nonsense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:29726639G>A uc003afj.3 - 19 2771 c.2584C>T c.(2584-2586)Cag>Tag p.Q862* AP1B1_uc003afl.3_Nonsense_Mutation_p.Q835*|AP1B1_uc003afi.3_Nonsense_Mutation_p.Q855*|AP1B1_uc003afh.3_Nonsense_Mutation_p.Q59*|AP1B1_uc011ako.2_Nonsense_Mutation_p.Q415* NM_001127 NP_001118 Q10567 AP1B1_HUMAN Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA. 862 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCTCTGATCTGGAACTGGGCC 0.652000 14 4 0 0 0.000602 0 0 CEP89 84902 broad.mit.edu 37 19 33450905 33450905 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:33450905G>A uc002nty.3 - 2 295 c.206C>T c.(205-207)cCt>cTt p.P69L CEP89_uc002ntx.3_5'UTR|CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Missense_Mutation_p.P69L|CEP89_uc002nub.1_5'UTR NM_032816 NP_116205 Q96ST8 CEP89_HUMAN Homo sapiens centrosomal protein 89kDa (CEP89), mRNA. 69 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 GCGAGGCTGAGGAATAGCAAC 0.567000 40 7 0 0 0.001984 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6066654 6066654 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:6066654C>T uc010idb.1 - 8 1870 c.1384G>A c.(1384-1386)Gac>Aac p.D462N JAKMIP1_uc010idc.1_Missense_Mutation_p.D277N|JAKMIP1_uc010idd.1_Missense_Mutation_p.D462N|JAKMIP1_uc003giu.4_Missense_Mutation_p.D462N|JAKMIP1_uc011bwc.2_Missense_Mutation_p.D297N|JAKMIP1_uc003giv.4_Missense_Mutation_p.D462N|JAKMIP1_uc010ide.3_Missense_Mutation_p.D462N NM_001099433 NP_001092903 Q96N16 JKIP1_HUMAN Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA. 462 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCTGTCCTGTCTGTGTTGTAG 0.517000 47 8 0 0 0.003080 0 0 CEL 1056 broad.mit.edu 37 9 135946657 135946657 + Missense_Mutation SNP G C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:135946657G>C uc010naa.1 + 10 1793 c.1777G>C c.(1777-1779)Gcc>Ccc p.A593P NM_001807 NP_001798 P19835 CEL_HUMAN Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA. 590 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TGACTCCGGGGCCCCCCCCGT 0.816000 19 3 0 0 0.009096 0 0 KLRC2 3822 broad.mit.edu 37 12 10588483 10588483 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:10588483C>T uc001qyh.3 - 0 110 c.103G>A c.(103-105)Gaa>Aaa p.E35K KLRC2_uc010she.1_Missense_Mutation_p.E35K|KLRC2_uc001qyk.2_Missense_Mutation_p.E35K NM_002261 NP_002252 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA. 35 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity p.E35E(1) kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 ATTTCCTGTTCGGTTCCTGAA 0.383000 151 32 0 0 0.013726 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802259 185802259 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:185802259G>A uc002uph.3 + 3 2730 c.2136G>A c.(2134-2136)ggG>ggA p.G712G NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 712 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TACATTCTGGGAAACATAATT 0.308000 30 9 0 0 0.004482 0 0 SCN8A 6334 broad.mit.edu 37 12 52168020 52168020 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:52168020C>T uc001ryw.3 + 19 3871 c.3693C>T c.(3691-3693)atC>atT p.I1231I SCN8A_uc010snl.2_Silent_p.I1231I|SCN8A_uc001rza.1_Non-coding_Transcript NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA. 1231 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCGCACCATCCTGGAATATG 0.498000 43 8 0 0 0.003080 0 0 SSTR1 6751 broad.mit.edu 37 14 38679658 38679658 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:38679658C>T uc021rsi.1 + 0 1064 c.1064C>T c.(1063-1065)gCc>gTc p.A355V SSTR1_uc001wul.1_Missense_Mutation_p.A355V NM_001049 NP_001040 P30872 SSR1_HUMAN Homo sapiens somatostatin receptor 1 (SSTR1), mRNA. 355 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GACTATTACGCCACCGCGCTC 0.582000 56 12 0 0 0.013537 0 0 RGPD4 285190 broad.mit.edu 37 2 108476283 108476283 + Silent SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:108476283A>G uc010ywk.2 + 11 1822 c.1740A>G c.(1738-1740)gcA>gcG p.A580A RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA. 580 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TACATTGGGCAAAATGCCTTC 0.318000 55 18 0 0 0.007291 0 0 AGTR2 186 broad.mit.edu 37 X 115304184 115304184 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:115304184C>T uc022cdd.1 + 0 651 c.651C>T c.(649-651)atC>atT p.I217I AGTR2_uc004eqh.4_Silent_p.I217I NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 217 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGAAAAATATCCTTGGTTTTA 0.373000 12 5 0 0 0.000602 0 0 LIMK2 3985 broad.mit.edu 37 22 31662023 31662023 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:31662023C>T uc003akh.3 + 7 1091 c.946C>T c.(946-948)Cgt>Tgt p.R316C LIMK2_uc003aki.3_Missense_Mutation_p.R70C|LIMK2_uc003akj.3_Missense_Mutation_p.R295C|LIMK2_uc003akk.3_Missense_Mutation_p.R295C|LIMK2_uc011aln.2_Missense_Mutation_p.R233C NM_005569 NP_005560 P53671 LIMK2_HUMAN Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA. 316 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGAATCCCTTCGTTGTTCCAG 0.577000 48 15 0 0 0.004990 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152464 50152464 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:50152464C>T uc001zxu.3 - 27 3648 c.3506G>A c.(3505-3507)tGg>tAg p.W1169* ATP8B4_uc010ber.3_Nonsense_Mutation_p.W1042*|ATP8B4_uc010ufd.2_Nonsense_Mutation_p.W979*|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Nonsense_Mutation_p.W172* NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 1169 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) ATTTTCAATCCAGCTAGTGCT 0.393000 79 21 0 0 0.010504 0 0 MYO18B 84700 broad.mit.edu 37 22 26173699 26173699 + Silent SNP C G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:26173699C>G uc003abz.1 + 7 2269 c.2019C>G c.(2017-2019)gtC>gtG p.V673V MYO18B_uc003aca.1_Silent_p.V554V|MYO18B_uc010guy.1_Silent_p.V554V|MYO18B_uc010guz.1_Silent_p.V554V|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Silent_p.V186V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 673 Myosin head-like. nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGAGCAGGTCCTGGAACACC 0.627000 62 14 0 0 0.004990 0 0 PTGS1 5742 broad.mit.edu 37 9 125154661 125154661 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:125154661G>A uc004bmg.1 + 10 1773 c.1638G>A c.(1636-1638)ccG>ccA p.P546P PTGS1_uc011lys.1_Silent_p.P484P|PTGS1_uc010mwb.1_Silent_p.P400P|PTGS1_uc004bmf.1_Silent_p.P509P|PTGS1_uc004bmh.1_Silent_p.P437P|PTGS1_uc011lyt.1_Silent_p.P437P NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 546 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) ACTGGAAGCCGAGCACATTTG 0.527000 91 21 0 0 0.014323 0 0 NLRP11 204801 broad.mit.edu 37 19 56329409 56329409 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:56329409C>T uc010ygf.2 - 3 843 c.132G>A c.(130-132)ctG>ctA p.L44L NLRP11_uc002qmb.3_Intron|NLRP11_uc002qmc.3_Intron|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 44 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCATCTGTATCAGTGGAAACT 0.388000 59 14 0 0 0.003163 0 0 SEC22A 26984 broad.mit.edu 37 3 122964853 122964853 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:122964853C>T uc003ege.3 + 4 728 c.649C>T c.(649-651)Ctc>Ttc p.L217F SEC22A_uc003egf.3_Missense_Mutation_p.L217F NM_012430 NP_036562 Q96IW7 SC22A_HUMAN Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA. 217 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) TATAGAAAGTCTCCTGCAGGT 0.388000 54 11 0 0 0.008291 0 0 OR4K1 79544 broad.mit.edu 37 14 20404563 20404563 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:20404563G>A uc001vwj.2 + 0 797 c.738G>A c.(736-738)gtG>gtA p.V246V NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T245A(1) 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) ACATCACAGTGGTCATTCTTT 0.413000 79 19 0 0 0.010504 0 0 NUP210 23225 broad.mit.edu 37 3 13360633 13360633 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:13360633G>A uc003bxv.1 - 38 5585 c.5502C>T c.(5500-5502)ccC>ccT p.P1834P NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 1834 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CAAGATCCCGGGGCGTGCAGA 0.642000 26 9 0 0 0.008291 0 0 HBBP1 3044 broad.mit.edu 37 11 5264439 5264439 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:5264439G>A uc001mag.3 - 1 263 c.47C>T c.(46-48)tCc>tTc p.S16F Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA. TTTTCCGAAGGAGATCAGCAC 0.493000 16 10 0 0 0.008291 0 0 STOX1 219736 broad.mit.edu 37 10 70645007 70645007 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:70645007C>T uc001jos.2 + 2 1542 c.1455C>T c.(1453-1455)tcC>tcT p.S485S STOX1_uc001joq.3_Silent_p.S375S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.S375S NM_001130161 NP_689922 Q6ZVD7 STOX1_HUMAN Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA. 485 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 TGCTAGGTTCCCATTTGATTT 0.448000 44 7 0 0 0.001984 0 0 CCDC110 256309 broad.mit.edu 37 4 186380657 186380657 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:186380657G>A uc003ixu.4 - 5 1160 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S CCDC110_uc003ixv.4_Missense_Mutation_p.P325S|CCDC110_uc011ckt.1_Missense_Mutation_p.P362S NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA. 362 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CCAGTGATGGGAATTTCTTTA 0.323000 81 24 0 0 0.002780 0 0 PPM1L 151742 broad.mit.edu 37 3 160786642 160786642 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:160786642C>T uc003fdr.3 + 3 881 c.780C>T c.(778-780)atC>atT p.I260I PPM1L_uc003fds.3_Silent_p.I81I|PPM1L_uc003fdt.3_Silent_p.I133I|PPM1L_uc010hwf.3_Non-coding_Transcript NM_139245 NP_640338 Q5SGD2 PPM1L_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA. 260 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCCAGGGAATCCTGGCCATGT 0.517000 27 15 0 0 0.003163 0 0 NLRP12 91662 broad.mit.edu 37 19 54307240 54307240 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:54307240G>A uc002qcj.4 - 5 2774 c.2554C>T c.(2554-2556)Ctg>Ttg p.L852L NLRP12_uc010eqw.3_Silent_p.L134L|NLRP12_uc002qch.4_Silent_p.L851L|NLRP12_uc002qci.4_Silent_p.L851L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.L852L NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 851 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGGTGCCTCAGTCCCTGGCAT 0.483000 42 7 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13811926 13811926 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13811926G>A uc003jfd.2 - 43 7279 c.7237C>T c.(7237-7239)Ctt>Ttt p.L2413F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2413 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGTTTCTTAAGAAAACCCTGT 0.373000 Kartagener syndrome 30 4 0 0 0.009096 0 0 MSR1 4481 broad.mit.edu 37 8 16026295 16026296 + Missense_Mutation DNP CC TT TT TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:16026295_16026296CC>TT uc010lsu.3 - 3 419_420 c.355_356GG>AA c.(355-357)gga>AAa p.G119K MSR1_uc003wwz.3_Missense_Mutation_p.G101K|MSR1_uc003wxa.3_Missense_Mutation_p.G101K|MSR1_uc003wxb.3_Missense_Mutation_p.G101K|MSR1_uc011kxz.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 101 cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity p.G101R(2) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GCTGTCATTTCCTTTTCCCGTG 0.376000 81 23 0 0 0.004672 0 0 OR4K13 390433 broad.mit.edu 37 14 20502848 20502848 + Nonsense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:20502848G>A uc010tkz.2 - 0 70 c.70C>T c.(70-72)Cag>Tag p.Q24* NM_001004714 NP_001004714 Q8NH42 OR4KD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA. 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AATAAAATCTGAAGATTTTGA 0.393000 20 5 0 0 0.000602 0 0 AK024141 0 broad.mit.edu 37 14 73079089 73079089 + RNA SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:73079089C>T uc010arh.1 - 0 c.715G>A Homo sapiens cDNA FLJ14079 fis, clone HEMBB1002134, weakly similar to ZINC-FINGER PROTEIN NEURO-D4. CTGAGATAATCATTCTATATT 0.478000 48 14 0 0 0.001855 0 0 ALOX15B 247 broad.mit.edu 37 17 7945753 7945753 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:7945753C>T uc002gju.3 + 3 632 c.516C>T c.(514-516)ctC>ctT p.L172L ALOX15B_uc002gjv.3_Silent_p.L172L|ALOX15B_uc002gjw.3_Silent_p.L172L|ALOX15B_uc010vun.2_Silent_p.L172L|ALOX15B_uc010cnp.3_5'UTR NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 172 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 ACTTGGAGCTCAATATCAAAT 0.547000 57 8 0 0 0.003080 0 0 CAPSL 133690 broad.mit.edu 37 5 35910583 35910583 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:35910583C>T uc003jjt.1 - 2 295 c.200G>A c.(199-201)gGg>gAg p.G67E CAPSL_uc003jju.1_Missense_Mutation_p.G67E NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 67 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) ATCATTTAACCCTTTCATAAA 0.318000 51 11 0 0 0.008291 0 0 LAMC3 10319 broad.mit.edu 37 9 133960930 133960930 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:133960930C>T uc004caa.1 + 24 4148 c.4050C>T c.(4048-4050)ccC>ccT p.P1350P LAMC3_uc010mze.1_Intron NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 1350 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGCAGTTTCCCCGGCCCAAGG 0.632000 41 10 0 0 0.006214 0 0 CCDC63 160762 broad.mit.edu 37 12 111291224 111291224 + Missense_Mutation SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:111291224A>G uc001trv.1 + 2 220 c.25A>G c.(25-27)Aga>Gga p.R9G CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_5'UTR|CCDC63_uc001trw.1_Intron NM_152591 NP_689804 Q8NA47 CCD63_HUMAN Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA. 9 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GAAGAACAGGAGAAAAGACTC 0.577000 31 8 0 0 0.008291 0 0 SAMD3 154075 broad.mit.edu 37 6 130476170 130476170 + Splice_Site SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:130476170C>T uc003qbw.3 - 9 1151 c.823_splice c.e9-1 p.E275_splice SAMD3_uc003qbx.3_Splice_Site_p.E275_splice NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 275 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACAGCTTCTTCCTGCAAAACA 0.353000 40 6 0 0 0.001168 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913155 29913155 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:29913155G>A uc002dut.3 + 0 1009 c.863G>A c.(862-864)gGc>gAc p.G288D BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 288 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 p.G288D(2) endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 AACACCTTCGGCAATGCCGGC 0.662000 23 7 0 0 0.004482 0 0 TG 7038 broad.mit.edu 37 8 133885333 133885333 + Missense_Mutation SNP C T T rs143578780 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:133885333C>T uc003ytw.3 + 4 546 c.505C>T c.(505-507)Cgt>Tgt p.R169C NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 169 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AATAAGAAATCGTCGTCTTCT 0.443000 25 27 0 0 0.008361 0 0 TRPM8 79054 broad.mit.edu 37 2 234847806 234847806 + Silent SNP C T T rs151205278 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:234847806C>T uc002vvh.3 + 4 553 c.513C>T c.(511-513)atC>atT p.I171I TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.I121I|TRPM8_uc002vvj.3_Silent_p.I94I NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 171 integral to membrane p.I171I(2) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCATCTACATCGCGCAGTCCA 0.592000 31 8 0 0 0.003080 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169566 90169566 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:90169566G>A uc003hsm.1 - 1 2215 c.1696C>T c.(1696-1698)Cct>Tct p.P566S GPRIN3_uc021xqb.1_Missense_Mutation_p.P566S NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN Homo sapiens GPRIN family member 3 (GPRIN3), mRNA. 566 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGGGATTTAGGATTGAGCAGT 0.468000 56 13 0 0 0.001855 0 0 RUSC2 9853 broad.mit.edu 37 9 35561359 35561359 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:35561359C>T uc003zww.3 + 11 4786 c.4531C>T c.(4531-4533)Cct>Tct p.P1511S RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P1511S NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 1511 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AAGTCCAACCCCTGGAAGCAG 0.652000 66 11 0 0 0.008291 0 0 ZZEF1 23140 broad.mit.edu 37 17 3916868 3916868 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:3916868G>A uc002fxe.3 - 51 8518 c.8454C>T c.(8452-8454)gtC>gtT p.V2818V ZZEF1_uc002fxg.1_Silent_p.V139V NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 2818 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 GATGAGGCACGACCCTTTCTT 0.443000 119 33 0 0 0.004878 0 0 KIF21B 23046 broad.mit.edu 37 1 200978068 200978068 + Silent SNP C T T rs150839616 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:200978068C>T uc001gvs.2 - 2 593 c.276G>A c.(274-276)ggG>ggA p.G92G KIF21B_uc009wzl.2_Silent_p.G92G|KIF21B_uc001gvr.2_Silent_p.G92G|KIF21B_uc010ppn.2_Silent_p.G92G NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 92 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.G92G(2)|p.G92R(1)|p.A91A(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGTACGTCTTCCCGGCCCCCG 0.612000 59 25 0 0 0.004656 0 0 CACNG3 10368 broad.mit.edu 37 16 24358126 24358126 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:24358126G>A uc002dmf.3 + 1 1485 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 95 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GGACACAGCCGAATATCTCCT 0.557000 27 15 0 0 0.004007 0 0 KAT6B 23522 broad.mit.edu 37 10 76739023 76739023 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:76739023C>T uc001jwn.1 + 9 2650 c.2157C>T c.(2155-2157)taC>taT p.Y719Y KAT6B_uc001jwm.1_Silent_p.Y427Y|KAT6B_uc001jwo.1_Silent_p.Y427Y|KAT6B_uc001jwp.1_Silent_p.Y536Y NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA. 719 Catalytic. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GTGGCCGGTACCCTTCTGTGA 0.388000 35 6 0 0 0.001984 0 0 PCNXL3 399909 broad.mit.edu 37 11 65402031 65402031 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65402031C>T uc001oey.2 + 28 4724 c.4724C>T c.(4723-4725)tCc>tTc p.S1575F PCNXL3_uc001oez.2_Missense_Mutation_p.S462F|MIR4690_uc021qln.1_5'Flank NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA. 1575 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GATTGGAACTCCCCGCTGGTC 0.662000 11 6 0 0 0.003080 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715964 13715964 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13715964G>A uc001rbt.2 - 12 4387 c.4208C>T c.(4207-4209)tCc>tTc p.S1403F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1403 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGAAGTAGGATTTGCTGCC 0.617000 17 18 0 0 0.008871 0 0 PCSK9 255738 broad.mit.edu 37 1 55512226 55512226 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:55512226G>A uc001cyf.2 + 2 792 c.430G>A c.(430-432)Gag>Aag p.E144K PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 144 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 CGACTACATCGAGGAGGACTC 0.597000 328 84 0 0 0.014410 0 0 COL4A4 1286 broad.mit.edu 37 2 227896735 227896735 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:227896735C>T uc021vxr.1 - 38 3844 c.3743G>A c.(3742-3744)gGa>gAa p.G1248E COL4A4_uc021vxs.1_Missense_Mutation_p.G1248E NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1248 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGAGCTCTTCCTGTGGCACC 0.498000 33 9 0 0 0.006214 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938863 2938863 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:2938863C>T uc001ajz.3 + 0 818 c.613C>T c.(613-615)Ccc>Tcc p.P205S NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 205 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCACACCTTCCCCTGCCAGCT 0.642000 41 5 0 0 0.003080 0 0 IFI44L 10964 broad.mit.edu 37 1 79101127 79101127 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:79101127G>A uc010oro.2 + 4 1008 c.829G>A c.(829-831)Gat>Aat p.D277N IFI44L_uc010orp.2_Missense_Mutation_p.D14N|IFI44L_uc010orq.2_Missense_Mutation_p.D14N NM_006820 NP_006811 Q53G44 IF44L_HUMAN Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA. 277 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 ACTGTGCATGGATGACATTCC 0.368000 42 7 0 0 0.003080 0 0 LOC644936 644936 broad.mit.edu 37 5 79596013 79596013 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:79596013G>A uc010jai.3 - 0 285 c.144C>T c.(142-144)gtC>gtT p.V48V Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA. TTTCCTGCATGACTGTGGTGG 0.557000 13 5 0 0 0.001168 0 0 BRWD1 54014 broad.mit.edu 37 21 40587164 40587164 + Splice_Site SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:40587164T>C uc002yxk.2 - 32 4080 c.3785_splice c.e32+1 p.K1262_splice BRWD1_uc010goc.1_Splice_Site|BRWD1_uc021wjf.1_Splice_Site_p.K1262_splice|BRWD1_uc010god.1_Splice_Site_p.K228_splice NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA. 1262 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTACTTACTTGATAAATTTT 0.353000 23 11 0 0 0.008291 0 0 LRRC31 79782 broad.mit.edu 37 3 169578434 169578434 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:169578434G>A uc003fgc.1 - 2 467 c.402C>T c.(400-402)atC>atT p.I134I LRRC31_uc010hwp.1_Intron NM_024727 NP_079003 Q6UY01 LRC31_HUMAN Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA. 134 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTTGCTGAGTGATGGAAAGGA 0.463000 68 16 0 0 0.004007 0 0 CA9 768 broad.mit.edu 37 9 35675789 35675789 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:35675789C>T uc003zxo.4 + 2 507 c.465C>T c.(463-465)gcC>gcT p.A155A C9orf100_uc003zxl.3_Non-coding_Transcript NM_001216 NP_001207 Q16790 CAH9_HUMAN Homo sapiens carbonic anhydrase IX (CA9), mRNA. 155 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGTCCCCAGCCTGCGCGGGCC 0.692000 16 6 0 0 0.003080 0 0 OAS3 4940 broad.mit.edu 37 12 113386914 113386914 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:113386914G>A uc001tug.3 + 5 1365 c.1278G>A c.(1276-1278)ccG>ccA p.P426P NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 426 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity p.P426P(2) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 ACCTGAAGCCGAGCCCCCAGT 0.577000 42 10 0 0 0.006214 0 0 CER1 9350 broad.mit.edu 37 9 14722533 14722533 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:14722533G>A uc003zlj.3 - 0 183 c.138C>T c.(136-138)aaC>aaT p.N46N NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 46 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CTTCCTCATGGTTGCCTGTGG 0.567000 71 14 0 0 0.002450 0 0 WDR60 55112 broad.mit.edu 37 7 158715154 158715154 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:158715154C>T uc003woe.4 + 15 2166 c.2008C>T c.(2008-2010)Ccc>Tcc p.P670S WDR60_uc010lqv.3_Intron|WDR60_uc010lqw.3_Missense_Mutation_p.P302S NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN Homo sapiens WD repeat domain 60 (WDR60), mRNA. 670 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GAGCTTTGTGCCCCTGCTGGA 0.517000 32 8 0 0 0.004482 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122788 12122788 + Missense_Mutation SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:12122788T>G uc003nac.3 + 3 2939 c.2760T>G c.(2758-2760)gaT>gaG p.D920E HIVEP1_uc011diq.2_Non-coding_Transcript NM_002114 NP_002105 P15822 ZEP1_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA. 920 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGTCCCTGGATGAGAGCCACC 0.507000 34 11 0 0 0.008291 0 0 ITGB5 3693 broad.mit.edu 37 3 124540214 124540215 + Missense_Mutation DNP GT AA AA TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:124540214_124540215GT>AA uc003eho.3 - 5 1184_1185 c.887_888AC>TT c.(886-888)cac>cTT p.H296L NM_002213 NP_002204 P18084 ITB5_HUMAN Homo sapiens integrin, beta 5 (ITGB5), mRNA. 296 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) ACTGGCCATCGTGTGGCTGCAC 0.564000 30 7 0 0 0.004672 0 0 LECT2 3950 broad.mit.edu 37 5 135283141 135283141 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:135283141C>T uc003lbe.1 - 3 536 c.335G>A c.(334-336)gGt>gAt p.G112D FBXL21_uc003lbc.3_Intron NM_002302 NP_002293 O14960 LECT2_HUMAN Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA. 112 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTAATAGGACCTTTATACTT 0.338000 37 7 0 0 0.001984 0 0 C15orf39 56905 broad.mit.edu 37 15 75499697 75499697 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:75499697C>T uc002azp.4 + 1 1628 c.1308C>T c.(1306-1308)gcC>gcT p.A436A C15orf39_uc002azq.4_Silent_p.A436A|C15orf39_uc021sqm.1_Silent_p.A195A|C15orf39_uc002azr.4_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 436 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CACAGGAAGCCGAAGAGAAGA 0.642000 47 10 0 0 0.006214 0 0 NVL 4931 broad.mit.edu 37 1 224477257 224477257 + Nonsense_Mutation SNP C A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:224477257C>A uc001hok.3 - 12 1566 c.1504G>T c.(1504-1506)Gaa>Taa p.E502* NVL_uc001hol.3_Nonsense_Mutation_p.E396*|NVL_uc010pvd.2_Nonsense_Mutation_p.E411*|NVL_uc010pve.2_Nonsense_Mutation_p.E313*|NVL_uc010pvf.2_Non-coding_Transcript NM_002533 NP_002524 O15381 NVL_HUMAN Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA. 502 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TCTTCCATTTCAGGATTTTTC 0.458000 54 19 1.67942e-08 1.95877e-08 0.006122 1 0 PRKDC 5591 broad.mit.edu 37 8 48805886 48805886 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:48805886G>A uc003xqi.3 - 30 3717 c.3660C>T c.(3658-3660)ctC>ctT p.L1220L PRKDC_uc003xqj.3_Silent_p.L1220L NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 1220 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGTGTTGATGAGAAAAGAGA 0.507000 Non-homologous end-joining 50 6 0 0 0.001168 0 0 OR2A7 401427 broad.mit.edu 37 7 143956659 143956659 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:143956659C>T uc011kuc.2 - 0 63 c.63G>A c.(61-63)agG>agA p.R21R OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA. 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) GCATCTGAATCCTTGGGCCAA 0.512000 170 23 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179577973 179577973 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:179577973C>T uc021vsy.1 - 89 23381 c.23156G>A c.(23155-23157)gGa>gAa p.G7719E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4380E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8646 Ig-like 59. 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) GATCTCATTTCCTTCATGGAA 0.433000 16 4 0 0 0.009096 0 0 DNAH5 1767 broad.mit.edu 37 5 13824350 13824350 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13824350C>T uc003jfd.2 - 38 6579 c.6537G>A c.(6535-6537)acG>acA p.T2179T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2179 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCATGACAATCGTGGACTCCG 0.448000 Kartagener syndrome 30 9 0 0 0.004482 0 0 NCR2 9436 broad.mit.edu 37 6 41318504 41318505 + Missense_Mutation DNP CC TT TT TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:41318504_41318505CC>TT uc003oqh.2 + 4 820_821 c.733_734CC>TT c.(733-735)ccc>TTc p.P245F NCR2_uc003oqj.2_3'UTR|NCR2_uc003oqi.2_3'UTR NM_004828 NP_004819 O95944 NCTR2_HUMAN Homo sapiens natural cytotoxicity triggering receptor 2 (NCR2), transcript variant 1, mRNA. 245 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) cacggaccttccctggacctca 0.470000 45 10 0 0 0.004672 0 0 KRT16P3 644945 broad.mit.edu 37 17 20405571 20405571 + RNA SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:20405571C>T uc002gxb.3 - 4 c.1465G>A Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA. CCTTTGGTTTCCTCCAGGCTG 0.562000 15 5 0 0 0.001984 0 0 FAM58BP 339521 broad.mit.edu 37 1 200183445 200183445 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:200183445C>T uc009wzi.1 + 0 790 c.754C>T c.(754-756)Ccc>Tcc p.P252S NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA. 252 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding lung(1) 1 CACAGAGATCCCCTAAGGCCC 0.532000 99 31 0 0 0.013726 0 0 COL4A1 1282 broad.mit.edu 37 13 110831344 110831344 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:110831344G>A uc001vqw.4 - 30 2506 c.2384C>T c.(2383-2385)tCt>tTt p.S795F NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 795 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding p.G794E(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AACTCCTGGAGACCCCACGGA 0.587000 21 4 0 0 0.009096 0 0 RGL1 23179 broad.mit.edu 37 1 183711344 183711344 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:183711344C>T uc001gqm.3 + 1 513 c.52C>T c.(52-54)Ctt>Ttt p.L18F RGL1_uc010pof.1_5'UTR|RGL1_uc010pog.2_Missense_Mutation_p.L18F|RGL1_uc010poh.2_Missense_Mutation_p.L18F NM_015149 NP_055964 Q9NZL6 RGL1_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA. 0 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ral guanyl-nucleotide exchange factor activity|protein binding breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TAAATTCAAACTTTCCACCAA 0.448000 41 17 0 0 0.006122 0 0 SKIV2L 6499 broad.mit.edu 37 6 31929757 31929757 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:31929757C>T uc003nyn.1 + 9 1379 c.990C>T c.(988-990)gtC>gtT p.V330V RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Silent_p.V172V|SKIV2L_uc011dov.1_Silent_p.V137V NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 330 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CTGTCTTTGTCGCAGCTCACA 0.507000 323 191 0 0 0.014410 0 0 THBD 7056 broad.mit.edu 37 20 23028831 23028831 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:23028831G>A uc002wss.3 - 0 1471 c.1311C>T c.(1309-1311)ttC>ttT p.F437F THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.F378F NM_000361 NP_000352 P07204 TRBM_HUMAN Homo sapiens thrombomodulin (THBD), mRNA. 437 EGF-like 5. blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CCGTGCAGATGAAACCGTCGT 0.622000 46 10 0 0 0.006214 0 0 ERVW-1 30816 broad.mit.edu 37 7 92098746 92098746 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:92098746C>T uc022ahe.1 - 0 950 c.950G>A c.(949-951)aGa>aAa p.R317K NM_014590 NP_055405 Q9UQF0 ENW1_HUMAN Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA. 317 Cleavage. syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 aatgggtactcttttgttgcg 0.428000 81 18 0 0 0.008871 0 0 CD244 51744 broad.mit.edu 37 1 160832413 160832414 + Missense_Mutation DNP CC TT TT TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:160832413_160832414CC>TT uc009wtq.3 - 0 279_280 c.54_55GG>AA c.(52-57)cagggc>caAAgc p.G19S CD244_uc001fxa.3_Missense_Mutation_p.G19S|CD244_uc009wtr.3_Missense_Mutation_p.G19S|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript NM_001166663 NP_001160135 Q9BZW8 CD244_HUMAN Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA. 19 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTACCTTTGCCCTGATACACCT 0.619000 43 5 0 0 0.004672 0 0 ITGA7 3679 broad.mit.edu 37 12 56090749 56090749 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:56090749G>A uc001shh.3 - 11 1903 c.1683C>T c.(1681-1683)gcC>gcT p.A561A ITGA7_uc001shg.3_Silent_p.A557A|ITGA7_uc010sps.2_Silent_p.A464A|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Silent_p.A438A NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 601 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CGGTGCCCGAGGCCTGGTGCT 0.607000 35 8 0 0 0.003080 0 0 FMN2 56776 broad.mit.edu 37 1 240371059 240371059 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:240371059G>A uc010pye.2 + 5 3184 c.2959G>A c.(2959-2961)Gga>Aga p.G987R FMN2_uc010pyd.2_Missense_Mutation_p.G983R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 983 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.H986Q(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCTCTACCCGGAGCGGGCAT 0.716000 40 6 0 0 0.004482 0 0 FAM73A 374986 broad.mit.edu 37 1 78249030 78249030 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:78249030C>T uc010ork.2 + 1 221 c.189C>T c.(187-189)ctC>ctT p.L63L FAM73A_uc001dhx.3_Silent_p.L63L|FAM73A_uc010orl.2_Intron NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA. 63 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) ACTATTCTCTCTCCCAGGTAA 0.363000 37 6 0 0 0.001168 0 0 PTPN11 5781 broad.mit.edu 37 12 112926862 112926862 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:112926862C>T uc001ttx.3 + 12 1862 c.1482C>T c.(1480-1482)atC>atT p.I494I NM_002834 NP_002825 Q06124 PTN11_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA. 498 Tyrosine-protein phosphatase. T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CCAAAACCATCCAGATGGTGC 0.453000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 110 28 0 0 0.008361 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594277 140594277 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140594277G>A uc003lja.1 + 0 769 c.582G>A c.(580-582)gaG>gaA p.E194E NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN Homo sapiens protocadherin beta 13 (PCDHB13), mRNA. 194 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.E194R(1) 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) AATACCCAGAGCTGGTGCTGG 0.522000 41 8 0 0 0.006214 0 0 GLYAT 10249 broad.mit.edu 37 11 58482865 58482865 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:58482865C>T uc001nnb.3 - 2 268 c.113G>A c.(112-114)gGa>gAa p.G38E GLYAT_uc001nnc.3_Missense_Mutation_p.G38E NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 38 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GAATGGATTTCCATGGTTTAT 0.398000 17 5 0 0 0.000602 0 0 AARSD1 80755 broad.mit.edu 37 17 41103881 41103881 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:41103881C>T uc010whg.2 - 15 1907 c.1561G>A c.(1561-1563)Gag>Aag p.E521K AARSD1_uc002icd.3_Missense_Mutation_p.E460K NM_001136042 NP_079543 Q9BTE6 AASD1_HUMAN Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA. 347 alanyl-tRNA aminoacylation cytoplasm ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1) 17 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CCACCTTTCTCATCGCCCACA 0.517000 65 13 0 0 0.013537 0 0 GOT2 2806 broad.mit.edu 37 16 58749966 58749966 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:58749966G>A uc002eof.1 - 7 1085 c.971C>T c.(970-972)gCc>gTc p.A324V GOT2_uc010vim.1_Missense_Mutation_p.A281V NM_002080 NP_002071 P00505 AATM_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA. 324 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding p.G323R(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGCAATCCGGGCCCCATTGAG 0.512000 49 10 0 0 0.008291 0 0 HLX 3142 broad.mit.edu 37 1 221058014 221058014 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:221058014G>A uc001hmv.4 + 3 1892 c.1435G>A c.(1435-1437)Gag>Aag p.E479K NM_021958 NP_068777 Q14774 HLX_HUMAN Homo sapiens H2.0-like homeobox (HLX), mRNA. 479 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) CAAAAGCCCCGAGCCAGCCCA 0.672000 24 11 0 0 0.001855 0 0 TRPM8 79054 broad.mit.edu 37 2 234915547 234915547 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:234915547G>A uc002vvh.3 + 22 3221 c.3181G>A c.(3181-3183)Gaa>Aaa p.E1061K TRPM8_uc010fyj.3_Missense_Mutation_p.E639K|TRPM8_uc010fyk.3_Non-coding_Transcript NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 1061 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGTCATGAAGGAAAACTACCT 0.413000 19 12 0 0 0.002450 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952972 119952972 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:119952972C>T uc010inb.3 + 3 3238 c.3042C>T c.(3040-3042)gcC>gcT p.A1014A SYNPO2_uc010ina.3_Silent_p.A1014A|SYNPO2_uc003icm.4_Silent_p.A1014A|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Silent_p.A942A|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 1014 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGAATGCTGCCTCACCTACGA 0.562000 65 8 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9084244 9084244 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9084244G>A uc002mkp.3 - 0 7775 c.7571C>T c.(7570-7572)cCt>cTt p.P2524L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2524 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 CTCTCCTGCAGGACTTGTCTT 0.512000 36 11 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179395249 179395249 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:179395249C>T uc021vsy.1 - 306 98614 c.98389G>A c.(98389-98391)Ggt>Agt p.G32797S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26492S|TTN_uc021vta.1_Missense_Mutation_p.G26425S|TTN_uc021vtb.1_Missense_Mutation_p.G26300S|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33724 Ig-like 145. 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) GACGTTCCACCTTCACCAGAA 0.358000 54 13 0 0 0.003163 0 0 SREBF1 6720 broad.mit.edu 37 17 17719280 17719280 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:17719280G>A uc002gru.2 - 11 2471 c.2277C>T c.(2275-2277)gcC>gcT p.A759A SREBF1_uc002grp.2_Silent_p.A378A|SREBF1_uc002grq.2_Silent_p.A278A|SREBF1_uc002grr.2_Silent_p.A505A|SREBF1_uc002grs.2_Silent_p.A735A|SREBF1_uc002grt.2_Silent_p.A789A|MIR33B_uc021trh.1_5'Flank NM_004176 NP_004167 P36956 SRBP1_HUMAN Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA. 759 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GCCACTGCATGGCAGGAGGCA 0.647000 39 13 0 0 0.002450 0 0 ARIH2 10425 broad.mit.edu 37 3 49020677 49020677 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:49020677C>T uc003cvb.3 + 15 1768 c.1456C>T c.(1456-1458)Ctg>Ttg p.L486L ARIH2_uc003cvc.3_Silent_p.L486L|ARIH2_uc003cvf.3_Silent_p.L404L|ARIH2_uc010hkl.3_Silent_p.L404L NM_006321 NP_006312 O95376 ARI2_HUMAN Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA. 486 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GAGGAGAACCCTGCTGAAAGA 0.562000 187 41 0 0 0.013114 0 0 NLRP5 126206 broad.mit.edu 37 19 56515323 56515323 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:56515323G>A uc002qmj.3 + 1 304 c.304G>A c.(304-306)Gag>Aag p.E102K NLRP5_uc002qmi.3_Missense_Mutation_p.E102K NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 102 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTTTGAAATCGAGAATGCCAA 0.423000 47 11 0 0 0.010729 0 0 DNAH10 196385 broad.mit.edu 37 12 124289424 124289424 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:124289424G>A uc001uft.4 + 16 2495 c.2470G>A c.(2470-2472)Gac>Aac p.D824N DNAH10_uc010tav.1_Missense_Mutation_p.D366N|DNAH10_uc010taw.1_Missense_Mutation_p.D309N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 824 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AAGGGCCAGCGACGTGGACCA 0.547000 121 30 0 0 0.012213 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767485 143767485 + Silent SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:143767485A>G uc001ejt.3 - 0 397 c.364T>C c.(364-366)Ttg>Ctg p.L122L NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA. 122 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity p.W121*(1) breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 TTGCCATCCAACCACTCAGTC 0.483000 421 53 0 0 0.014410 0 0 OR6K3 391114 broad.mit.edu 37 1 158687706 158687706 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:158687706G>A uc021pbn.1 - 0 200 c.200C>T c.(199-201)tCc>tTc p.S67F NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA. 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R66S(1)|p.S83F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CTCCAGAAAGGAAAATATACT 0.408000 75 26 0 0 0.003954 0 0 TMPO 7112 broad.mit.edu 37 12 98938241 98938241 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:98938241C>T uc001tfj.3 + 5 1100 c.805C>T c.(805-807)Cgt>Tgt p.R269C TMPO_uc001tfl.3_Non-coding_Transcript|TMPO_uc001tfk.3_Intron NM_001032283 NP_001027454 P42167 LAP2B_HUMAN Homo sapiens thymopoietin (TMPO), transcript variant 2, mRNA. 269 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding p.R269C(2) breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGAACATTTTCGTATAGATGG 0.303000 20 7 0 0 0.004482 0 0 CHST10 9486 broad.mit.edu 37 2 101023068 101023068 + Missense_Mutation SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:101023068A>G uc002tam.3 - 2 468 c.70T>C c.(70-72)Ttc>Ctc p.F24L NM_004854 NP_004845 O43529 CHSTA_HUMAN Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA. 24 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 AACGTGATGAACTTGCTAGCC 0.473000 221 63 0 0 0.014410 0 0 SULT1C3 442038 broad.mit.edu 37 2 108872049 108872049 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:108872049C>T uc010ywo.2 + 3 421 c.421C>T c.(421-423)Ccc>Tcc p.P141S NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA. 141 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GGCCAGAAATCCCAAGGATTG 0.423000 52 11 0 0 0.013537 0 0 TRIM14 9830 broad.mit.edu 37 9 100857227 100857227 + Missense_Mutation SNP C G G rs149392923 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:100857227C>G uc004ayd.2 - 3 640 c.622G>C c.(622-624)Gtc>Ctc p.V208L TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208L|TRIM14_uc004ayh.1_Missense_Mutation_p.V208L NM_033220 NP_150089 Q14142 TRI14_HUMAN Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA. 208 cytoplasm|intracellular zinc ion binding p.V208I(2)|p.P207L(1)|p.P207P(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) AAGCTCTTGACGGGCTCAAAG 0.582000 69 23 0 0 0.003330 0 0 CNGB1 1258 broad.mit.edu 37 16 57996902 57996902 + Missense_Mutation SNP G C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:57996902G>C uc002emt.2 - 4 422 c.357C>G c.(355-357)caC>caG p.H119Q CNGB1_uc010cdh.2_Missense_Mutation_p.H119Q|CNGB1_uc002emu.2_Missense_Mutation_p.H119Q NM_001297 NP_001288 Q14028 CNGB1_HUMAN Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA. 119 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CCGTGATGCTGTGAACAGGCT 0.667000 51 5 0 0 0.001168 0 0 CD79A 973 broad.mit.edu 37 19 42381431 42381431 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42381431C>T uc002orv.3 + 0 242 c.57C>T c.(55-57)ttC>ttT p.F19F CD79A_uc002oru.3_Silent_p.F19F NM_001783 NP_001774 P11912 CD79A_HUMAN Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA. 19 B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity p.L18L(1) large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 TCCTCCTCTTCCTGCTGTCTG 0.607000 """O, S""" DLBCL 50 14 0 0 0.002450 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449031 89449031 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:89449031G>A uc021opo.1 - 0 479 c.479C>T c.(478-480)cCt>cTt p.P160L CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.P160L|RBMXL1_uc001dms.3_Missense_Mutation_p.P160L NM_019610 NP_062556 Q96E39 RBMXL_HUMAN Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA. 160 RNA binding|nucleotide binding CTTAGGAGAAGGACCCCCACT 0.493000 109 35 0 0 0.004289 0 0 MYO18A 399687 broad.mit.edu 37 17 27493524 27493524 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:27493524G>A uc002hdt.1 - 1 593 c.435C>T c.(433-435)agC>agT p.S145S MYO18A_uc010csa.1_Silent_p.S145S|MYO18A_uc002hdu.1_Silent_p.S145S NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 145 DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TCTCATCCCGGCTACGCTGGG 0.627000 19 10 0 0 0.008291 0 0 ABCD2 225 broad.mit.edu 37 12 40001459 40001459 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:40001459C>T uc001rmb.2 - 2 1604 c.1178G>A c.(1177-1179)cGa>cAa p.R393Q NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 393 ABC transmembrane type-1. 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 CAGTAAATTTCGAGCAGTGGT 0.323000 60 18 0 0 0.010504 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093854 143093854 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:143093854G>A uc003qjd.3 - 4 2765 c.2022C>T c.(2020-2022)ttC>ttT p.F674F NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGGGATCCATGAAATATTCTC 0.473000 82 23 0 0 0.012319 0 0 ACSL6 23305 broad.mit.edu 37 5 131290046 131290046 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:131290046G>A uc003kvx.2 - 20 2159 c.2050C>T c.(2050-2052)Cat>Tat p.H684Y ACSL6_uc003kvv.1_Intron|ACSL6_uc003kwb.3_Missense_Mutation_p.H649Y|ACSL6_uc003kvy.2_Missense_Mutation_p.H684Y|ACSL6_uc003kvz.2_Missense_Mutation_p.H584Y|ACSL6_uc021ydh.1_Missense_Mutation_p.H584Y|ACSL6_uc010jdo.2_Missense_Mutation_p.H659Y|ACSL6_uc003kwa.2_Missense_Mutation_p.H670Y|ACSL6_uc003kvw.2_Missense_Mutation_p.H305Y|ACSL6_uc010jdn.2_Missense_Mutation_p.H674Y NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 659 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTCAGAATGGATGTGAATG 0.363000 23 8 0 0 0.008291 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761657 13761657 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13761657G>A uc001rbt.2 - 8 2069 c.1890C>T c.(1888-1890)atC>atT p.I630I NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 630 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CTGACACCATGATCTTGGAGG 0.512000 56 11 0 0 0.010729 0 0 FAT4 79633 broad.mit.edu 37 4 126408537 126408537 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:126408537G>A uc003ifj.4 + 15 12854 c.12854G>A c.(12853-12855)gGa>gAa p.G4285E FAT4_uc011cgp.2_Missense_Mutation_p.G2526E|FAT4_uc003ifi.1_Missense_Mutation_p.G1763E NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4285 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCGATGCAGGAATTGCTGGG 0.323000 46 18 0 0 0.008871 0 0 MRPL46 26589 broad.mit.edu 37 15 89003039 89003039 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:89003039G>A uc002bmj.2 - 3 670 c.645C>T c.(643-645)ttC>ttT p.F215F MRPL46_uc002bmi.1_3'UTR NM_022163 NP_071446 Q9H2W6 RM46_HUMAN Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA. 215 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) GGGGGAACTTGAATGTGTAGT 0.468000 34 11 0 0 0.008291 0 0 C15orf2 23742 broad.mit.edu 37 15 24922699 24922699 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:24922699C>T uc001ywo.3 + 0 2159 c.1685C>T c.(1684-1686)tCt>tTt p.S562F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 562 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) ACAAACGCATCTGCCCACCTA 0.483000 78 28 0 0 0.004656 0 0 OR9A2 135924 broad.mit.edu 37 7 142724010 142724010 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:142724010G>A uc003wcc.1 - 0 210 c.210C>T c.(208-210)atC>atT p.I70I NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) TTGTGACCAGGATCTCCAGGG 0.468000 76 21 0 0 0.012319 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24884069 24884069 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:24884069G>A uc001isb.2 - 19 4250 c.3763C>T c.(3763-3765)Cgt>Tgt p.R1255C ARHGAP21_uc010qdb.1_Non-coding_Transcript NM_020824 NP_065875 Q5T5U3 RHG21_HUMAN Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA. 1254 Rho-GAP. signal transduction Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton GTPase activator activity|protein binding 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 GTTTTCAGACGATCTAGAGGA 0.303000 26 8 0 0 0.004482 0 0 TMEM202 338949 broad.mit.edu 37 15 72691128 72691128 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:72691128C>T uc002auq.3 + 1 216 c.216C>T c.(214-216)atC>atT p.I72I TMEM202_uc002aur.3_Intron NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN Homo sapiens transmembrane protein 202 (TMEM202), mRNA. 72 integral to membrane p.I72I(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TAATGCTGATCGCCATGTCCC 0.522000 56 13 0 0 0.013537 0 0 PCDH18 54510 broad.mit.edu 37 4 138449647 138449647 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:138449647C>T uc003ihe.4 - 2 3112 c.2725G>A c.(2725-2727)Gga>Aga p.G909R PCDH18_uc003ihf.4_Missense_Mutation_p.G901R|PCDH18_uc011cgz.2_Missense_Mutation_p.G120R|PCDH18_uc003ihg.4_Missense_Mutation_p.G688R|PCDH18_uc011cha.2_Missense_Mutation_p.G89R NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 909 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGAATTCTTCCATCTGTGAGA 0.418000 131 36 0 0 0.005524 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217789 44217789 + Silent SNP C A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:44217789C>A uc003oxa.1 + 4 630 c.546C>A c.(544-546)atC>atA p.I182I HSP90AB1_uc011dvr.1_Silent_p.I172I|HSP90AB1_uc003oxb.1_Silent_p.I182I|HSP90AB1_uc011dvs.1_Silent_p.I2I|HSP90AB1_uc003oxc.1_5'UTR NM_007355 NP_031381 P08238 HS90B_HUMAN Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA. 182 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|TPR domain binding|nitric-oxide synthase regulator activity|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCAAAGTGATCCTCCATCTTA 0.438000 75 16 0.00400662 0.00461886 0.004007 1 0 ESRRB 2103 broad.mit.edu 37 14 76906080 76906080 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:76906080G>A uc001xsr.3 + 3 755 c.384G>A c.(382-384)aaG>aaA p.K128K ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.K128K NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 128 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCTTCTTCAAGAGGACTATCC 0.647000 18 8 0 0 0.006214 0 0 ZNF599 148103 broad.mit.edu 37 19 35251284 35251284 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:35251284G>A uc010edn.1 - 3 810 c.422C>T c.(421-423)cCc>cTc p.P141L ZNF599_uc010edm.2_Missense_Mutation_p.P104L NM_001007248 NP_001007249 Q96NL3 ZN599_HUMAN Homo sapiens zinc finger protein 599 (ZNF599), mRNA. 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTCTTTGTGGGGGTTTGTTCC 0.453000 99 29 0 0 0.003271 0 0 XDH 7498 broad.mit.edu 37 2 31562483 31562483 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:31562483G>A uc002rnv.1 - 33 3725 c.3646C>T c.(3646-3648)Ccc>Tcc p.P1216S NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 1216 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCCCCTCGGGGGAATAGTGT 0.612000 54 9 0 0 0.008291 0 0 CDH23 64072 broad.mit.edu 37 10 73494026 73494026 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:73494026C>T uc001jrx.4 + 31 4518 c.4128C>T c.(4126-4128)gaC>gaT p.D1376D C10orf105_uc001jsb.2_Intron|CDH23_uc001jsc.1_Silent_p.D186D NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 1378 Cadherin 13. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCCTGGTGGACCGTGAGAAGG 0.602000 11 5 0 0 0.001168 0 0 HUWE1 10075 broad.mit.edu 37 X 53617393 53617393 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:53617393G>A uc004dsp.3 - 34 4564 c.4162C>T c.(4162-4164)Cca>Tca p.P1388S HUWE1_uc004dsn.3_Missense_Mutation_p.P213S NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 1388 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGATCCATTGGAATATCCTGT 0.433000 72 30 0 0 0.013726 0 0 C17orf75 64149 broad.mit.edu 37 17 30661605 30661605 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:30661605G>A uc002hhg.3 - 7 824 c.754C>T c.(754-756)Ctt>Ttt p.L252F NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA. 252 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) AGTCCTTGAAGACTGGCCACA 0.478000 19 4 0 0 0.009096 0 0 SUPT5H 6829 broad.mit.edu 37 19 39948936 39948936 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:39948936G>A uc002olo.4 + 4 489 c.310G>A c.(310-312)Gag>Aag p.E104K SUPT5H_uc002olp.4_Missense_Mutation_p.E104K|SUPT5H_uc002olq.4_Intron|SUPT5H_uc002oln.4_Missense_Mutation_p.E104K|SUPT5H_uc002olr.4_Missense_Mutation_p.E104K NM_001111020 NP_003160 O00267 SPT5H_HUMAN Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA. 104 Glu-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCAAGTAGAAGAGATTGAAGG 0.532000 120 35 0 0 0.004289 0 0 MYOM1 8736 broad.mit.edu 37 18 3214983 3214983 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:3214983G>A uc002klp.3 - 1 573 c.239C>T c.(238-240)tCt>tTt p.S80F MYOM1_uc002klq.3_Missense_Mutation_p.S80F NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 80 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACTGACTTCAGAGCTCAGGGC 0.672000 21 12 0 0 0.001855 0 0 DUSP26 78986 broad.mit.edu 37 8 33454954 33454954 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:33454954C>T uc003xjp.3 - 1 413 c.80G>A c.(79-81)cGa>cAa p.R27Q DUSP26_uc003xjq.3_Missense_Mutation_p.R27Q NM_024025 NP_076930 Q9BV47 DUS26_HUMAN Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA. 27 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R27*(1) NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CCCTCGAGTTCGAACAGGAGA 0.537000 45 17 0 0 0.007413 0 0 ACTR3 10096 broad.mit.edu 37 2 114691884 114691884 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:114691884C>T uc002tkx.1 + 5 781 c.461C>T c.(460-462)aCc>aTc p.T154I ACTR3_uc010yyc.1_Missense_Mutation_p.T92I|ACTR3_uc010yyd.1_Missense_Mutation_p.T103I NM_005721 NP_005712 P61158 ARP3_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA. 154 cellular component movement|cilium morphogenesis Arp2/3 protein complex ATP binding|actin binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 GCATCTTGGACCTCAAGACAA 0.393000 192 42 0 0 0.011902 0 0 KCNK13 56659 broad.mit.edu 37 14 90650623 90650623 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:90650623G>A uc001xye.1 + 1 945 c.503G>A c.(502-504)cGa>cAa p.R168Q NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA. 168 integral to membrane potassium channel activity|voltage-gated ion channel activity p.R168*(2) haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CTCCGGAGACGAGGGGCCCTG 0.607000 65 14 0 0 0.001855 0 0 COL4A4 1286 broad.mit.edu 37 2 227895314 227895314 + Splice_Site SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:227895314C>T uc021vxr.1 - 40 3919 c.3818_splice c.e40-1 p.G1273_splice COL4A4_uc021vxs.1_Splice_Site_p.G1273_splice NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1273 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCAGGTGCTCCTGACCACAG 0.527000 33 10 0 0 0.006214 0 0 CACHD1 57685 broad.mit.edu 37 1 65129383 65129383 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:65129383C>T uc001dbo.1 + 13 1909 c.1804C>T c.(1804-1806)Ccc>Tcc p.P602S CACHD1_uc001dbp.1_Missense_Mutation_p.P357S|CACHD1_uc001dbq.1_Missense_Mutation_p.P357S|CACHD1_uc010opa.1_5'Flank NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN Homo sapiens cache domain containing 1 (CACHD1), mRNA. 653 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TTCAGAAAGTCCCACCATCAT 0.527000 184 36 0 0 0.004289 0 0 CCL26 10344 broad.mit.edu 37 7 75401322 75401322 + Splice_Site SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:75401322C>T uc003udt.1 - 3 182 c.74_splice c.e3-1 p.R25_splice NM_006072 NP_006063 Q9Y258 CCL26_HUMAN Homo sapiens chemokine (C-C motif) ligand 26 (CCL26), mRNA. 25 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction extracellular space chemokine activity lung(3) 3 TCACTCCCACCTAAAAATCAG 0.552000 40 8 0 0 0.008291 0 0 KIAA0284 283638 broad.mit.edu 37 14 105349500 105349500 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:105349500C>T uc001yps.3 + 6 802 c.496C>T c.(496-498)Ccg>Tcg p.P166S KIAA0284_uc010axb.3_Missense_Mutation_p.P166S NM_015005 NP_055820 Q9Y4F5 K0284_HUMAN Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA. 236 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1) 14 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) GACCCCGCAGCCGTCGCAGCC 0.716000 10 4 0 0 0.009096 0 0 PPARA 5465 broad.mit.edu 37 22 46611088 46611088 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:46611088C>T uc003bhb.1 + 2 350 c.227C>T c.(226-228)tCg>tTg p.S76L PPARA_uc003bgw.1_Missense_Mutation_p.S76L|PPARA_uc003bgx.1_Missense_Mutation_p.S76L|PPARA_uc010hab.1_Missense_Mutation_p.S76L|PPARA_uc003bha.3_Missense_Mutation_p.S76L|PPARA_uc010hac.1_5'UTR NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 76 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TCACCAGCTTCGAGCCCCTCC 0.547000 29 6 0 0 0.001168 0 0 GOT2 2806 broad.mit.edu 37 16 58753135 58753135 + Nonsense_Mutation SNP C A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:58753135C>A uc002eof.1 - 3 514 c.400G>T c.(400-402)Gga>Tga p.G134* GOT2_uc010vim.1_Nonsense_Mutation_p.G91* NM_002080 NP_002071 P00505 AATM_HUMAN Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA. 134 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCTCCAGTTCCAGAAATGGTC 0.493000 69 13 4.7546e-09 5.55636e-09 0.004007 1 0 CD99 4267 broad.mit.edu 37 X 2609464 2609464 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:2609464C>T uc004cqm.3 + 0 237 c.63C>T c.(61-63)gcC>gcT p.A21A CD99_uc010nda.3_Silent_p.A21A|CD99_uc004cqn.3_Non-coding_Transcript NM_002414 NP_002405 P14209 CD99_HUMAN Homo sapiens CD99 molecule (CD99), transcript variant 1, mRNA. 21 cell adhesion cytoplasm|integral to plasma membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 TGGTCGCCGCCCCGGGTGAGC 0.771000 4 3 0 0 0.004672 0 0 STARD6 147323 broad.mit.edu 37 18 51858171 51858171 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:51858171C>T uc010xdt.2 - 3 326 c.326G>A c.(325-327)cGa>cAa p.R109Q NM_139171 NP_631910 P59095 STAR6_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA. 109 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) GATAAAGTCTCGAGGGGAAAT 0.378000 37 7 0 0 0.004482 0 0 RHOXF2B 727940 broad.mit.edu 37 X 119293172 119293172 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:119293172G>A uc004esl.4 + 1 521 c.331G>A c.(331-333)Gag>Aag p.E111K NM_001099685 NP_115887 P0C7M4 RHF2B_HUMAN Homo sapiens Rhox homeobox family, member 2B (RHOXF2B), mRNA. 111 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1) 7 CGACCAGAGCGAGAAGGAACC 0.667000 11 6 0 0 0.006214 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63842813 63842813 + Missense_Mutation SNP C G G rs146316789 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:63842813C>G uc001xgd.1 - 13 1908 c.1318G>C c.(1318-1320)Gaa>Caa p.E440Q PPP2R5E_uc010tsf.1_Missense_Mutation_p.E364Q|PPP2R5E_uc010tsg.1_Missense_Mutation_p.E364Q|PPP2R5E_uc010tsh.1_Missense_Mutation_p.E435Q|PPP2R5E_uc001xge.2_Missense_Mutation_p.E440Q NM_006246 NP_006237 Q16537 2A5E_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA. 440 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CGCTCCTTTTCTTTCTTTTTC 0.333000 39 18 0 0 0.008871 0 0 KPNA6 23633 broad.mit.edu 37 1 32620255 32620255 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:32620255C>T uc010ogy.2 + 1 113 c.86C>T c.(85-87)cCt>cTt p.P29L KPNA6_uc001bug.3_Missense_Mutation_p.P24L|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.P21L NM_012316 NP_036448 O60684 IMA7_HUMAN Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA. 24 IBB. 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) GCTCTAAACCCTGAAGAAATG 0.428000 36 9 0 0 0.004482 0 0 ZNF217 7764 broad.mit.edu 37 20 52198100 52198100 + Silent SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:52198100A>G uc002xwq.4 - 0 1608 c.1266T>C c.(1264-1266)ccT>ccC p.P422P ZNF217_uc010gij.1_Silent_p.P414P NM_006526 NP_006517 O75362 ZN217_HUMAN Homo sapiens zinc finger protein 217 (ZNF217), mRNA. 422 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CGGCGAGGTCAGGAGAACACG 0.632000 46 11 0 0 0.010729 0 0 XKR3 150165 broad.mit.edu 37 22 17288712 17288712 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:17288712G>A uc002zlv.3 - 1 350 c.252C>T c.(250-252)atC>atT p.I84I XKR3_uc011agf.2_Silent_p.I84I NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 84 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AAAACATCAGGATAATTTGAT 0.333000 42 8 0 0 0.003080 0 0 MATN1 4146 broad.mit.edu 37 1 31188783 31188783 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:31188783C>T uc001brz.3 - 4 1214 c.1180G>A c.(1180-1182)Gat>Aat p.D394N LOC100129196_uc001bsb.1_5'Flank NM_002379 NP_002370 P21941 MATN1_HUMAN Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA. 394 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCAGCATCATTAATGTAG 0.572000 41 8 0 0 0.003080 0 0 CDH11 1009 broad.mit.edu 37 16 65016033 65016033 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:65016033C>T uc002eoi.3 - 7 1605 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.E391K|CDH11_uc010vin.2_Missense_Mutation_p.E265K|CDH11_uc002eok.1_Non-coding_Transcript NM_001797 NP_001788 P55287 CAD11_HUMAN Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA. 391 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.E391D(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCTTGGACTTCGTGGATGTAA 0.502000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 87 23 0 0 0.014323 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208725947 208725947 + Missense_Mutation SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:208725947T>C uc002vcl.2 - 6 2480 c.1990A>G c.(1990-1992)Att>Gtt p.I664V NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA. 664 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCAAATTTAATGACCTTGCCC 0.448000 75 27 0 0 0.010818 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132415 59132415 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:59132415G>A uc010rks.2 + 0 484 c.484G>A c.(484-486)Ggt>Agt p.G162S NM_001004729 NP_001004729 Q8NGI8 O5AN1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 ATTCCAAATTGGTGCTTTGCT 0.458000 82 13 0 0 0.002450 0 0 COASY 80347 broad.mit.edu 37 17 40717008 40717008 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:40717008C>T uc010cyj.3 + 6 1534 c.1332C>T c.(1330-1332)ctC>ctT p.L444L COASY_uc002hzz.3_Silent_p.L415L|COASY_uc002iab.3_Silent_p.L120L|COASY_uc002iad.3_Silent_p.L415L|COASY_uc002iac.3_Silent_p.L415L|COASY_uc002iae.3_Silent_p.L210L|MLX_uc002iaf.3_5'Flank|MLX_uc002iag.3_5'Flank|MLX_uc002iah.3_5'Flank NM_001042532 NP_079509 Q13057 COASY_HUMAN Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. 415 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CAGATATTCTCCATAAAGATG 0.498000 74 21 0 0 0.003330 0 0 RTL1 388015 broad.mit.edu 37 14 101348394 101348394 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:101348394G>A uc010txj.1 - 0 2791 c.2732C>T c.(2731-2733)tCc>tTc p.S911F MIR127_uc001yig.3_5'Flank|MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank NM_001134888 NP_001128360 E9PKS8 E9PKS8_HUMAN Homo sapiens retrotransposon-like 1 (RTL1), mRNA. 911 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CTCGATAGGGGAGATGTTGCG 0.592000 14 7 0 0 0.001984 0 0 POLR3B 55703 broad.mit.edu 37 12 106851069 106851069 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:106851069C>T uc001tlp.3 + 20 2669 c.2447C>T c.(2446-2448)tCt>tTt p.S816F POLR3B_uc001tlq.3_Missense_Mutation_p.S758F NM_018082 NP_001154180 Q9NW08 RPC2_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA. 816 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GGTATTTGTTCTCCAGGTAAA 0.333000 30 12 0 0 0.001855 0 0 PSEN2 5664 broad.mit.edu 37 1 227069743 227069743 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:227069743C>T uc009xeo.1 + 3 562 c.135C>T c.(133-135)gcC>gcT p.A45A PSEN2_uc009xep.1_Silent_p.A45A|PSEN2_uc001hqk.2_Non-coding_Transcript NM_000447 NP_000438 P49810 PSN2_HUMAN Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA. 45 Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) AGAACACTGCCCAGTGGGTAG 0.607000 29 22 0 0 0.003330 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991284 35991284 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:35991284G>A uc003jjv.2 - 0 252 c.59C>T c.(58-60)tCa>tTa p.S20L UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.S20L|UGT3A1_uc011cor.2_Missense_Mutation_p.S20L|UGT3A1_uc003jjy.2_Intron NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 20 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCAGCCTCTGAGAGCAGGAC 0.607000 90 17 0 0 0.006122 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118358 118358 + RNA SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrGL000205.1:118358A>G uc002kgk.4 + 0 c.1736A>G Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GCCAGGGAAGACATCATCCCT 0.557000 51 8 0 0 0.004482 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15884945 15884945 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:15884945C>T uc010xor.1 - 1 137 c.117G>A c.(115-117)ctG>ctA p.L39L CYP4F24P_uc002nbo.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. AGGCGGGCGTCAGCATCCGAC 0.552000 12 6 0 0 0.001984 0 0 VPS13D 55187 broad.mit.edu 37 1 12416532 12416533 + Missense_Mutation DNP AG GA GA TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12416532_12416533AG>GA uc001atv.3 + 48 10090_10091 c.9949_9950AG>GA c.(9949-9951)agc>GAc p.S3317D VPS13D_uc001atw.3_Missense_Mutation_p.S3292D|VPS13D_uc001atx.3_Missense_Mutation_p.S2504D NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3316 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCTGGCCCGTAGCCTGAGTCCT 0.490000 42 11 0 0 0.004672 0 0 MTDH 92140 broad.mit.edu 37 8 98703286 98703286 + Silent SNP C T T rs142598802 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:98703286C>T uc003yhz.3 + 5 1246 c.918C>T c.(916-918)tcC>tcT p.S306S MTDH_uc010mbf.3_Non-coding_Transcript NM_178812 NP_848927 Q86UE4 LYRIC_HUMAN Homo sapiens metadherin (MTDH), mRNA. 306 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity p.S306S(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AGTGGAACTCCGTTTCACCTG 0.468000 88 12 0 0 0.010729 0 0 FUK 197258 broad.mit.edu 37 16 70500048 70500048 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:70500048C>T uc010cft.3 + 4 453 c.395C>T c.(394-396)cCc>cTc p.P132L FUK_uc010vmb.1_Missense_Mutation_p.P83L|FUK_uc002eyy.3_Missense_Mutation_p.P100L|FUK_uc002eyz.3_Intron NM_145059 NP_659496 Q8N0W3 FUK_HUMAN Homo sapiens fucokinase (FUK), mRNA. 100 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CGAGACTTCCCCTTTGATGAC 0.622000 54 18 0 0 0.006122 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158066807 158066807 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:158066807C>T uc003qqt.3 + 5 1288 c.791C>T c.(790-792)tCc>tTc p.S264F ZDHHC14_uc003qqs.3_Missense_Mutation_p.S264F|ZDHHC14_uc010kjn.3_5'UTR NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA. 264 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) TCTGTCTGGTCCATCGTTGGC 0.557000 32 4 0 0 0.000602 0 0 PHF20L1 51105 broad.mit.edu 37 8 133816952 133816952 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:133816952C>T uc003ytt.3 + 7 1139 c.814C>T c.(814-816)Cag>Tag p.Q272* PHF20L1_uc003ytr.3_Nonsense_Mutation_p.Q246*|PHF20L1_uc010mdv.3_Nonsense_Mutation_p.Q246*|PHF20L1_uc003yts.3_Nonsense_Mutation_p.Q272*|PHF20L1_uc011lja.2_Nonsense_Mutation_p.Q246*|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Nonsense_Mutation_p.Q111* NM_016018 NP_057102 A8MW92 P20L1_HUMAN Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA. 272 nucleic acid binding|zinc ion binding p.K272N(1) breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CAACTCGTTTCAGGCAAAGAG 0.363000 50 10 0 0 0.010729 0 0 SLC9A2 6549 broad.mit.edu 37 2 103299780 103299780 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:103299780C>T uc002tca.3 + 3 1207 c.1065C>T c.(1063-1065)tcC>tcT p.S355S NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 355 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTCAGAAATCCTACACGACCA 0.418000 63 15 0 0 0.003163 0 0 ILDR2 387597 broad.mit.edu 37 1 166896409 166896409 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:166896409C>T uc001gdx.2 - 6 945 c.889G>A c.(889-891)Ggt>Agt p.G297S NM_199351 NP_955383 Q71H61 ILDR2_HUMAN Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA. 297 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ATCCGGTAACCTTTGCGAACT 0.448000 109 15 0 0 0.006122 0 0 CABIN1 23523 broad.mit.edu 37 22 24574103 24574103 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:24574103C>T uc002zzi.1 + 36 6729 c.6602C>T c.(6601-6603)tCc>tTc p.S2201F CABIN1_uc021wnc.1_Missense_Mutation_p.S2151F|CABIN1_uc002zzj.1_Missense_Mutation_p.S2122F|CABIN1_uc002zzl.2_Missense_Mutation_p.S2201F|CABIN1_uc010gul.1_Missense_Mutation_p.S139F NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA. 2201 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTGGAGACATCCAGCCAGGAG 0.652000 53 13 0 0 0.001855 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918568 51918568 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:51918568C>T uc002pwo.3 - 6 1419 c.1197G>A c.(1195-1197)ctG>ctA p.L399L SIGLEC10_uc002pwp.3_Silent_p.L341L|SIGLEC10_uc021uyl.1_Silent_p.L316L|SIGLEC10_uc002pwq.3_Silent_p.L341L|SIGLEC10_uc010ycz.2_Silent_p.L351L|SIGLEC10_uc002pws.2_Silent_p.L251L|SIGLEC10_uc002pwr.3_Silent_p.L399L|SIGLEC10_uc010ycy.2_Silent_p.L309L|SIGLEC10_uc010eow.3_Silent_p.L211L|LOC100129083_uc021uym.1_5'Flank NM_033130 NP_149121 Q96LC7 SIG10_HUMAN Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA. 399 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGGAGGGGCTCAGAACCTGTC 0.662000 44 9 0 0 0.006214 0 0 CUL9 23113 broad.mit.edu 37 6 43153909 43153909 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:43153909C>T uc003ouk.3 + 3 1042 c.967C>T c.(967-969)Ctc>Ttc p.L323F CUL9_uc003ouj.1_Missense_Mutation_p.L323F|CUL9_uc003oul.3_Missense_Mutation_p.L323F|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 323 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGCCCGGAACCTCAGCGAACA 0.607000 95 14 0 0 0.003163 0 0 HHIPL1 84439 broad.mit.edu 37 14 100123373 100123373 + Missense_Mutation SNP C G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:100123373C>G uc010avs.3 + 2 1004 c.939C>G c.(937-939)caC>caG p.H313Q HHIPL1_uc001ygl.1_Missense_Mutation_p.H313Q NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA. 313 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) CCTCAAACCACAACGGGGGCC 0.532000 197 53 0 0 0.014410 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498622 118498622 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:118498622C>T uc001ptr.2 + 6 1436 c.1083C>T c.(1081-1083)atC>atT p.I361I PHLDB1_uc010ryh.1_Silent_p.I360I|PHLDB1_uc001pts.3_Silent_p.I361I|PHLDB1_uc001ptt.3_Silent_p.I361I|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Silent_p.I161I|PHLDB1_uc001ptw.2_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 361 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTGGCCATCAGCCTGAGTG 0.632000 26 12 0 0 0.010729 0 0 TMX1 81542 broad.mit.edu 37 14 51716269 51716269 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:51716269C>T uc001wza.4 + 5 698 c.573C>T c.(571-573)tcC>tcT p.S191S TMX1_uc010aoa.3_Silent_p.S107S NM_030755 NP_110382 Q9H3N1 TMX1_HUMAN Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA. 191 DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 CTCTGTTTTCCGGACTGTTAT 0.328000 117 34 0 0 0.003271 0 0 LGSN 51557 broad.mit.edu 37 6 63995556 63995556 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:63995556C>T uc003peh.3 - 2 300 c.266G>A c.(265-267)cGa>cAa p.R89Q LGSN_uc003pei.3_Missense_Mutation_p.R89Q|LGSN_uc003pej.1_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 89 glutamine biosynthetic process glutamate-ammonia ligase activity p.R89*(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGCTTCAAATCGTACAAACTG 0.433000 20 10 0 0 0.010729 0 0 ZFPL1 7542 broad.mit.edu 37 11 64853932 64853932 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:64853932C>T uc001ocq.1 + 3 425 c.260C>T c.(259-261)cCc>cTc p.P87L CDCA5_uc001ocp.2_5'Flank NM_006782 NP_006773 O95159 ZFPL1_HUMAN Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA. 87 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 GCCCAGCTACCCCGAAACACG 0.607000 187 42 0 0 0.013114 0 0 USP54 159195 broad.mit.edu 37 10 75277230 75277230 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:75277230G>A uc001juo.3 - 17 2971 c.2954C>T c.(2953-2955)tCt>tTt p.S985F USP54_uc010qkk.2_Missense_Mutation_p.S167F|USP54_uc001juk.3_Missense_Mutation_p.S73F|USP54_uc001jul.3_Missense_Mutation_p.S73F|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 985 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ACTATGATGAGAATTCTTCTC 0.502000 39 6 0 0 0.001984 0 0 APCDD1 147495 broad.mit.edu 37 18 10471953 10471953 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:10471953C>T uc002kom.4 + 2 1023 c.669C>T c.(667-669)ctC>ctT p.L223L NM_153000 NP_694545 Q8J025 APCD1_HUMAN Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA. 223 Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) ACCACAACCTCGACCACCTGG 0.572000 100 15 0 0 0.003163 0 0 CELSR2 1952 broad.mit.edu 37 1 109803705 109803705 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:109803705C>T uc001dxa.4 + 2 4061 c.4000C>T c.(4000-4002)Ccg>Tcg p.P1334S NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA. 1334 EGF-like 3; calcium-binding. Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCGTTGCACCCCGGGTGTCTG 0.587000 267 78 0 0 0.014410 0 0 CCS 9973 broad.mit.edu 37 11 66372865 66372865 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:66372865G>A uc001oir.3 + 5 588 c.545G>A c.(544-546)aGa>aAa p.R182K NM_005125 NP_005116 O14618 CCS_HUMAN Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA. 182 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 GCCATCTTCAGAATGGAGGAT 0.567000 43 6 0 0 0.001984 0 0 FAM160B2 64760 broad.mit.edu 37 8 21955654 21955654 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:21955654G>A uc011kyx.2 + 5 652 c.601G>A c.(601-603)Gac>Aac p.D201N FAM160B2_uc011kyy.2_Non-coding_Transcript NM_022749 NP_073586 Q86V87 F16B2_HUMAN Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA. 201 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 CAGCCACGGGGACAAGGACTG 0.597000 4 4 0 0 0.009096 0 0 VPS13D 55187 broad.mit.edu 37 1 12445374 12445374 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12445374C>T uc001atv.3 + 58 11567 c.11426C>T c.(11425-11427)cCt>cTt p.P3809L VPS13D_uc001atw.3_Missense_Mutation_p.P3784L|VPS13D_uc001atx.3_Missense_Mutation_p.P2996L|VPS13D_uc009vnl.3_Non-coding_Transcript NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3808 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GATGAACTTCCTGTCACCGAA 0.373000 23 8 0 0 0.004482 0 0 DHX33 56919 broad.mit.edu 37 17 5347750 5347750 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:5347750G>A uc002gca.3 - 11 2100 c.1899C>T c.(1897-1899)gcC>gcT p.A633A DHX33_uc002gbz.3_Silent_p.A404A|DHX33_uc002gcb.3_Silent_p.A460A|DHX33_uc010clf.3_Silent_p.A468A NM_020162 NP_001186628 Q9H6R0 DHX33_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA. 633 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCTGAAGCTCGGCGGTGCTCA 0.622000 30 8 0 0 0.003080 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993302 140993302 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:140993302C>T uc004fbt.3 + 3 436 c.112C>T c.(112-114)Ccc>Tcc p.P38S MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 38 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGATTCCCCAGAGTTC 0.582000 HNSCC(15;0.026) 93 22 0 0 0.002780 0 0 immunoglobulin_heavy_chain 0 broad.mit.edu 37 14 107034755 107034755 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:107034755C>T uc001ysz.3 - 1 354 c.325G>A c.(325-327)Gac>Aac p.D109N abParts_uc021ser.1_Non-coding_Transcript Human CLL-12 transcript of unrearranged immunoglobulin V(H)5 gene. ATGGCGGTGTCCGAGGCCTTC 0.582000 147 26 0 0 0.005443 0 0 LYPD4 147719 broad.mit.edu 37 19 42342325 42342326 + Missense_Mutation DNP CC TT TT TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42342325_42342326CC>TT uc002orp.1 - 3 1205_1206 c.221_222GG>AA c.(220-222)agg>aAA p.R74K LYPD4_uc002orq.1_Missense_Mutation_p.R39K NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA. 74 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CCACAACTCCCCTTGCAGTCCC 0.579000 26 8 0 0 0.004672 0 0 FLG 2312 broad.mit.edu 37 1 152275409 152275409 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:152275409C>T uc001ezu.1 - 2 11989 c.11953G>A c.(11953-11955)Gat>Aat p.D3985N NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3985 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.D3985H(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) TCACCATAATCATAATCTGCA 0.398000 Ichthyosis 88 31 0 0 0.010818 0 0 BBS1 582 broad.mit.edu 37 11 66283164 66283164 + Splice_Site SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:66283164G>A uc001oii.1 + 6 669 c.591_splice c.e6-1 p.R197_splice BBS1_uc010rpf.1_Splice_Site|BBS1_uc001oil.1_Splice_Site_p.R160_splice|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Splice_Site_p.R160_splice|BBS1_uc001oik.1_Splice_Site_p.R84_splice NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 160 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 TTCCTTGCAGGGAGACGGCAG 0.622000 Bardet-Biedl syndrome 49 15 0 0 0.006122 0 0 NOC2L 26155 broad.mit.edu 37 1 880950 880950 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:880950G>A uc009vjq.3 - 16 2060 c.2001C>T c.(1999-2001)ctC>ctT p.L667L NOC2L_uc001aby.4_Silent_p.L464L|NOC2L_uc001abz.4_Silent_p.L667L NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA. 667 Asp/Glu-rich (acidic). nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCAGGTCAAAGAGGTCTTTAA 0.562000 56 15 0 0 0.003163 0 0 IQCF3 401067 broad.mit.edu 37 3 51863708 51863708 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:51863708G>A uc021wyy.1 + 5 834 c.46G>A c.(46-48)Gaa>Aaa p.E16K IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.E16K NM_001085479 NP_001193952 P0C7M6 IQCF3_HUMAN Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA. 16 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGATGCAGTAGAAAGACAGAG 0.532000 19 9 0 0 0.004482 0 0 SLC6A13 6540 broad.mit.edu 37 12 369078 369078 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:369078C>T uc001qic.2 - 1 231 c.141G>A c.(139-141)ggG>ggA p.G47G SLC6A13_uc009zdj.2_Silent_p.G47G|SLC6A13_uc010sdl.2_Silent_p.G47G|SLC6A13_uc001qid.2_Silent_p.G47G NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 47 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CAATGATCTCCCCAGCCACTG 0.542000 161 30 0 0 0.013726 0 0 MALAT1 378938 broad.mit.edu 37 11 65265605 65265605 + RNA SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65265605C>T uc010roh.2 + 0 c.373C>T Homo sapiens metastasis associated lung adenocarcinoma transcript 1 (non-protein coding) (MALAT1), non-coding RNA. AAAAAGCAGACCCAGAGCAGT 0.458000 33 10 0 0 0.008291 0 0 E2F3 1871 broad.mit.edu 37 6 20483065 20483065 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:20483065C>T uc003nda.2 + 3 1125 c.798C>T c.(796-798)ctC>ctT p.L266L E2F3_uc003ncz.2_Silent_p.L260L|E2F3_uc021ymj.1_Silent_p.L135L NM_001949 NP_001940 O00716 E2F3_HUMAN Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA. 266 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) TGACCGAGCTCAGTCAGGAAG 0.493000 323 69 0 0 0.014410 0 0 RPS27 6232 broad.mit.edu 37 1 153963239 153963239 + Splice_Site SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:153963239C>T uc001fdv.3 + 1 1 c.-33_splice c.e1-1 NM_001030 NP_001021 P42677 RS27_HUMAN Homo sapiens ribosomal protein S27 (RPS27), mRNA. cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCTTTCGCTCCTTTCCGGCGG 0.537000 72 10 0 0 0.008291 0 0 ST13 6767 broad.mit.edu 37 22 41223122 41223122 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:41223122G>A uc003aze.3 - 10 1102 c.959C>T c.(958-960)cCa>cTa p.P320L ST13_uc011aow.2_Missense_Mutation_p.P310L NM_003932 NP_003923 P50502 F10A1_HUMAN Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA. 320 STI1. protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 AAGAACCTCTGGATCACTAAG 0.458000 44 21 0 0 0.012319 0 0 LOC100132352 100132352 broad.mit.edu 37 9 68728848 68728848 + RNA SNP A C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:68728848A>C uc022bhu.1 + 2 c.633A>C LOC100132352_uc010mnp.2_Non-coding_Transcript Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA. aagaagaaaaagagcaaagat 0.279000 57 4 0 0 0.009096 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852279 20852279 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:20852279C>T uc021xmt.1 - 2 295 c.175G>A c.(175-177)Gat>Aat p.D59N KCNIP4_uc003gqe.2_Missense_Mutation_p.D42N|KCNIP4_uc003gqf.1_Missense_Mutation_p.D38N|KCNIP4_uc003gqg.1_5'UTR|KCNIP4_uc003gqh.1_Missense_Mutation_p.D34N|KCNIP4_uc003gqi.1_5'UTR|KCNIP4_uc021xmu.1_Missense_Mutation_p.D25N|KCNIP4_uc021xms.1_Missense_Mutation_p.D22N NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 59 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) TCCAGTTCATCTTCCACGCTG 0.498000 28 6 0 0 0.001168 0 0 KIF21A 55605 broad.mit.edu 37 12 39696939 39696939 + Splice_Site SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:39696939T>G uc001rly.3 - 36 4981 c.4561_splice c.e36-1 p.M1521_splice KIF21A_uc001rlv.3_Splice_Site_p.M466_splice|KIF21A_uc001rlw.3_Splice_Site_p.M791_splice|KIF21A_uc001rlx.3_Splice_Site_p.M1508_splice|KIF21A_uc001rlz.3_Splice_Site_p.M1468_splice|KIF21A_uc010skl.2_Splice_Site_p.M1484_splice|KIF21A_uc001rlt.3_Splice_Site_p.M141_splice|KIF21A_uc001rlu.3_Splice_Site_p.M141_splice NM_001173464 NP_001166935 Q7Z4S6 KI21A_HUMAN Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA. 1521 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ATCAAACATCTAAAAAGGTAG 0.378000 22 5 0 0 0.001168 0 0 RERE 473 broad.mit.edu 37 1 8420694 8420694 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:8420694G>A uc001ape.3 - 18 3683 c.2873C>T c.(2872-2874)tCc>tTc p.S958F RERE_uc001apf.3_Missense_Mutation_p.S958F|RERE_uc010nzx.1_Missense_Mutation_p.S690F|RERE_uc001apd.3_Missense_Mutation_p.S404F NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 958 Pro-rich. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGCATTCATGGAGAAGGGTGA 0.682000 34 8 0 0 0.006214 0 0 RASD2 23551 broad.mit.edu 37 22 35943021 35943021 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:35943021C>T uc003anx.3 + 1 370 c.165C>T c.(163-165)ttC>ttT p.F55F RASD2_uc003any.3_Silent_p.F55F NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 55 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 TCGAGGACTTCCACCGTAAGG 0.602000 28 8 0 0 0.003080 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420829 55420829 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:55420829C>T uc001sgp.4 + 1 984 c.606C>T c.(604-606)ttC>ttT p.F202F NEUROD4_uc021qyr.1_Silent_p.F202F NM_021191 NP_067014 Q9HD90 NDF4_HUMAN Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA. 202 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCCACAACTTCAACTATCAGT 0.498000 47 13 0 0 0.001855 0 0 ZNF705A 440077 broad.mit.edu 37 12 8330019 8330019 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:8330019G>A uc001qud.1 + 4 815 c.743G>A c.(742-744)aGa>aAa p.R248K FAM66C_uc001que.4_5'Flank|FAM66C_uc001quf.4_5'Flank|FAM66C_uc009zgc.3_5'Flank|FAM66C_uc001qug.3_5'Flank NM_001004328 NP_001004328 Q6ZN79 Z705A_HUMAN Homo sapiens zinc finger protein 705A (ZNF705A), mRNA. 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4) 18 Kidney(36;0.0877) AGACATGAGAGAACTCACCTT 0.388000 126 33 0 0 0.011902 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118335 118335 + RNA SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrGL000205.1:118335G>A uc002kgk.4 + 0 c.1713G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTGGCTCCAGGAGGACTTCTG 0.542000 35 5 0 0 0.000602 0 0 ZBBX 79740 broad.mit.edu 37 3 167023544 167023544 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:167023544C>T uc011bpc.2 - 16 1949 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K ZBBX_uc003feq.3_Missense_Mutation_p.E509K|ZBBX_uc003fep.3_Missense_Mutation_p.E538K NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 538 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GGAGCTTTTTCTAAATCTCTA 0.338000 36 4 0 0 0.000602 0 0 SCEL 8796 broad.mit.edu 37 13 78214852 78214852 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:78214852C>T uc001vki.3 + 30 2050 c.1880C>T c.(1879-1881)cCc>cTc p.P627L SCEL_uc010thx.2_Missense_Mutation_p.P585L|SCEL_uc001vkj.3_Missense_Mutation_p.P607L NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 627 LIM zinc-binding. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGCCGAAAACCCTTGGGTGTA 0.303000 17 4 0 0 0.009096 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316689 30316689 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:30316689C>T uc009xle.2 - 2 2525 c.2388G>A c.(2386-2388)ggG>ggA p.G796G KIAA1462_uc001iux.3_Silent_p.G796G|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.G658G NM_020848 NP_065899 Q9P266 K1462_HUMAN Homo sapiens KIAA1462 (KIAA1462), mRNA. 796 p.G796>?(2) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CCCGCTTAGGCCCAGGGTGGG 0.627000 91 31 0 0 0.006230 0 0 PNISR 25957 broad.mit.edu 37 6 99849093 99849093 + Nonsense_Mutation SNP T A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:99849093T>A uc003ppo.4 - 11 1969 c.1741A>T c.(1741-1743)Aaa>Taa p.K581* PNISR_uc021zdc.1_5'Flank|PNISR_uc021zdd.1_5'UTR|PNISR_uc003ppp.4_Nonsense_Mutation_p.K581*|PNISR_uc011eag.2_Nonsense_Mutation_p.K581* NM_032870 NP_116259 Q8TF01 PNISR_HUMAN Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA. 581 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 CTCTCTATTTTAATTCTGCGA 0.408000 86 22 0 0 0.002780 0 0 DNAH5 1767 broad.mit.edu 37 5 13700912 13700912 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13700912C>T uc003jfd.2 - 77 13602 c.13560G>A c.(13558-13560)tgG>tgA p.W4520* DNAH5_uc003jfc.2_Nonsense_Mutation_p.W688* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 4520 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGTCCTTCATCCATTTGGTGA 0.483000 Kartagener syndrome 84 24 0 0 0.005443 0 0 TTC29 83894 broad.mit.edu 37 4 147796069 147796069 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:147796069C>T uc003ikx.4 - 7 926 c.676G>A c.(676-678)Gaa>Aaa p.E226K TTC29_uc003ikw.4_Missense_Mutation_p.E200K|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.E200K NM_031956 NP_114162 Q8NA56 TTC29_HUMAN Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA. 200 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCAGCAGCTTCCAGAAGCTGA 0.423000 13 7 0 0 0.006214 0 0 TTLL13 440307 broad.mit.edu 37 15 90799000 90799000 + Missense_Mutation SNP T A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:90799000T>A uc002bpd.1 + 4 719 c.431T>A c.(430-432)tTc>tAc p.F144Y TTLL13_uc002bpe.1_Intron NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 144 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) ATCAACCACTTCCCTGGCATG 0.522000 143 39 0 0 0.005524 0 0 HCK 3055 broad.mit.edu 37 20 30672196 30672196 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:30672196G>A uc002wxh.3 + 7 922 c.685G>A c.(685-687)Ggg>Agg p.G229R HCK_uc010gdy.3_Missense_Mutation_p.G209R|HCK_uc021wbv.1_Missense_Mutation_p.G208R|HCK_uc002wxi.3_Missense_Mutation_p.G207R NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 229 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.W229L(1) NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGTTCCAGAGGGGAACGACGG 0.597000 13 4 0 0 0.000602 0 0 MYH2 4620 broad.mit.edu 37 17 10432356 10432356 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:10432356C>T uc010coi.3 - 26 3523 c.3395G>A c.(3394-3396)cGg>cAg p.R1132Q AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1132Q|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1132 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCGGGAGGCCCGCTCTGCCTC 0.602000 57 20 0 0 0.014323 0 0 AGRN 375790 broad.mit.edu 37 1 979730 979730 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:979730G>A uc001ack.2 + 11 2215 c.2165G>A c.(2164-2166)gGg>gAg p.G722E NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 722 Kazal-like 8. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.G722V(2) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGCTCAGATGGGGTCACCTAC 0.692000 20 5 0 0 0.001984 0 0 CBFB 865 broad.mit.edu 37 16 67132620 67132620 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:67132620G>A uc002era.3 + 5 795 c.534G>A c.(532-534)aaG>aaA p.K178K CBFB_uc002erb.3_Missense_Mutation_p.R168K|CBFB_uc010vja.2_Missense_Mutation_p.R58K NM_001755 NP_001746 Q13951 PEBB_HUMAN Homo sapiens core-binding factor, beta subunit (CBFB), transcript variant 2, mRNA. 178 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(3)|large_intestine(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) CAGGCAAGAAGACAACAAGAC 0.373000 T MYH11 AML 60 12 0 0 0.002450 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696528 153696528 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:153696528C>T uc004flm.3 + 21 4097 c.3924C>T c.(3922-3924)ttC>ttT p.F1308F NM_017514 NP_059984 P51805 PLXA3_HUMAN Homo sapiens plexin A3 (PLXNA3), mRNA. 1308 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 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) GCGTGCTCTTCCCGGGCATCG 0.637000 33 19 0 0 0.008871 0 0 GSG1 83445 broad.mit.edu 37 12 13241841 13241841 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13241841C>T uc001rbn.3 - 3 620 c.436G>A c.(436-438)Gag>Aag p.E146K GSG1_uc001rbl.3_Missense_Mutation_p.E133K|GSG1_uc001rbj.3_Missense_Mutation_p.E110K|GSG1_uc001rbk.3_Missense_Mutation_p.E110K|GSG1_uc001rbm.3_Missense_Mutation_p.E110K|GSG1_uc001rbo.3_Missense_Mutation_p.E146K|GSG1_uc001rbp.3_Missense_Mutation_p.E123K|GSG1_uc001rbq.2_Missense_Mutation_p.E146K NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN Homo sapiens germ cell associated 1 (GSG1), transcript variant 4, mRNA. 133 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) CGGCACCTCTCCCCTGAAACA 0.517000 43 7 0 0 0.004482 0 0 OGDHL 55753 broad.mit.edu 37 10 50944543 50944543 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:50944543G>A uc009xog.3 - 19 2729 c.2695C>T c.(2695-2697)Cct>Tct p.P899S OGDHL_uc001jie.3_Missense_Mutation_p.P872S|OGDHL_uc010qgt.2_Missense_Mutation_p.P815S|OGDHL_uc010qgu.2_Missense_Mutation_p.P663S NM_001143997 NP_001137469 Q9ULD0 OGDHL_HUMAN Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. 872 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCATCTTCAGGAATCACCCGC 0.642000 57 12 0 0 0.013537 0 0 ITSN1 6453 broad.mit.edu 37 21 35094928 35094928 + Missense_Mutation SNP T A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:35094928T>A uc002yta.1 + 3 425 c.157T>A c.(157-159)Tta>Ata p.L53I DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_5'UTR|ITSN1_uc002ysy.3_Missense_Mutation_p.L53I|ITSN1_uc002ysx.3_Missense_Mutation_p.L53I|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.L53I|ITSN1_uc010gmg.3_Missense_Mutation_p.L53I|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.L53I|ITSN1_uc010gmi.3_Missense_Mutation_p.L53I|ITSN1_uc002ytb.1_Missense_Mutation_p.L53I|ITSN1_uc002ytc.1_Missense_Mutation_p.L53I|ITSN1_uc010gmk.3_Missense_Mutation_p.L53I|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.L53I|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_5'UTR NM_003024 NP_003015 Q15811 ITSN1_HUMAN Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA. 53 EF-hand 1.|EH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCAATCTGGGTTACCTCAACC 0.294000 48 14 0 0 0.003163 0 0 FLRT1 23769 broad.mit.edu 37 11 63885183 63885183 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:63885183G>A uc021qks.1 + 0 1444 c.1444G>A c.(1444-1446)Gag>Aag p.E482K MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.E482K NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 454 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CTCCATCACGGAGACCTTGGT 0.627000 42 12 0 0 0.001855 0 0 ERP27 121506 broad.mit.edu 37 12 15067692 15067692 + Nonsense_Mutation SNP T A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:15067692T>A uc001rco.3 - 6 820 c.799A>T c.(799-801)Aag>Tag p.K267* NM_152321 NP_689534 Q96DN0 ERP27_HUMAN Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA. 267 endoplasmic reticulum lumen p.K267N(1) breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 TTTGGAGTCTTTCCTTCTGAT 0.363000 33 16 0 0 0.006122 0 0 GPR110 266977 broad.mit.edu 37 6 46977388 46977388 + Missense_Mutation SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:46977388T>C uc003oyt.3 - 10 1982 c.1783A>G c.(1783-1785)Atc>Gtc p.I595V GPR110_uc011dwl.2_Missense_Mutation_p.I283V NM_153840 NP_722582 Q5T601 GP110_HUMAN Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA. 595 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CCAATGGAGATACCCAGTCCC 0.433000 42 23 0 0 0.014323 0 0 MLF1IP 79682 broad.mit.edu 37 4 185646136 185646136 + Missense_Mutation SNP G C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:185646136G>C uc003iwq.3 - 3 365 c.295C>G c.(295-297)Cct>Gct p.P99A MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Missense_Mutation_p.P99A NM_024629 NP_078905 Q71F23 CENPU_HUMAN Homo sapiens MLF1 interacting protein (MLF1IP), mRNA. 99 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm p.P99S(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) TTTCCTGGAGGAGTTGAAGAG 0.353000 42 11 0 0 0.010729 0 0 WIPF2 147179 broad.mit.edu 37 17 38430097 38430097 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:38430097C>T uc002hug.1 + 5 1266 c.1026C>T c.(1024-1026)ccC>ccT p.P342P WIPF2_uc002huh.1_Silent_p.P192P|WIPF2_uc010cww.1_Silent_p.P192P|WIPF2_uc002hui.1_Silent_p.P342P|WIPF2_uc010cwx.1_Silent_p.P84P|WIPF2_uc010cwy.1_Silent_p.P342P NM_133264 NP_573571 Q8TF74 WIPF2_HUMAN Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA. 342 Poly-Pro. cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CTCCCCCTCCCCCACCACCAT 0.612000 HNSCC(43;0.11) 39 10 0 0 0.008291 0 0 FAM91A1 157769 broad.mit.edu 37 8 124797968 124797968 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:124797968G>A uc003yqv.3 + 10 1010 c.949G>A c.(949-951)Gta>Ata p.V317I FAM91A1_uc011lik.1_Missense_Mutation_p.V317I|FAM91A1_uc011lil.2_Missense_Mutation_p.V75I NM_144963 NP_659400 Q658Y4 F91A1_HUMAN Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA. 317 p.S316F(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TGTTCCATCCGTAAACAGATT 0.289000 97 18 0 0 0.007413 0 0 ERBB3 2065 broad.mit.edu 37 12 56495582 56495582 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:56495582G>A uc001sjh.3 + 27 4048 c.3772G>A c.(3772-3774)Gaa>Aaa p.E1258K ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Missense_Mutation_p.E615K|ERBB3_uc010sqc.2_Missense_Mutation_p.E1199K|ERBB3_uc009zok.3_Missense_Mutation_p.E523K|ERBB3_uc001sjk.3_Missense_Mutation_p.E499K|ERBB3_uc001sjl.3_Missense_Mutation_p.E378K|PA2G4_uc001sjm.3_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA. 1258 Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AACTCCAGATGAAGACTATGA 0.557000 54 15 0 0 0.004007 0 0 HERC2P3 283755 broad.mit.edu 37 15 20649560 20649560 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:20649560C>T uc001ytg.3 - 17 2658 c.1949G>A c.(1948-1950)gGa>gAa p.G650E HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.G650E|HERC2P3_uc010tyy.2_Missense_Mutation_p.G650E Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. p.G650E(2) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GTCGTAATTTCCTTCTTTCCC 0.592000 283 23 0 0 0.003954 0 0 MYC 4609 broad.mit.edu 37 8 128752989 128752989 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:128752989G>A uc003ysi.3 + 2 1675 c.1150G>A c.(1150-1152)Gag>Aag p.E384K NM_002467 NP_002458 P01106 MYC_HUMAN Homo sapiens v-myc myelocytomatosis viral oncogene homolog (avian) (MYC), mRNA. 369 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAGGAGGAACGAGCTAAAACG 0.517000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" 125 134 0 0 0.014410 0 0 TRIT1 54802 broad.mit.edu 37 1 40313247 40313247 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:40313247C>T uc021olz.1 - 6 915 c.901G>A c.(901-903)Gag>Aag p.E301K TRIT1_uc001ced.4_Intron|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Missense_Mutation_p.E55K|TRIT1_uc001ceh.4_Missense_Mutation_p.E55K|TRIT1_uc009vvv.3_Missense_Mutation_p.E160K|TRIT1_uc001cei.4_Missense_Mutation_p.E55K|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Intron|TRIT1_uc001cek.3_Intron|TRIT1_uc009vvx.3_Intron|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.E219K|TRIT1_uc001cen.3_Missense_Mutation_p.E55K|TRIT1_uc001ceo.3_Missense_Mutation_p.E55K|TRIT1_uc001cep.3_Missense_Mutation_p.E55K NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA. 301 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-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;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTACTAGTCTCCAGTGTGCAT 0.458000 104 23 0 0 0.003954 0 0 ABLIM1 3983 broad.mit.edu 37 10 116207724 116207724 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:116207724G>A uc021pyx.1 - 14 1749 c.1650C>T c.(1648-1650)ttC>ttT p.F550F ABLIM1_uc021pyw.1_Silent_p.F550F|ABLIM1_uc021pyy.1_Silent_p.F518F|ABLIM1_uc021pyz.1_Silent_p.F484F|ABLIM1_uc021pza.1_Silent_p.F490F|ABLIM1_uc021pze.1_Intron|ABLIM1_uc021pzf.1_Silent_p.F514F|ABLIM1_uc021pyv.1_Silent_p.F220F|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Silent_p.F166F|ABLIM1_uc021pzd.1_Silent_p.F363F|ABLIM1_uc021pyu.1_Silent_p.F227F NM_002313 NP_002304 O14639 ABLM1_HUMAN Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA. 550 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GGGCTGCTGGGAACTTGGAAA 0.537000 76 16 0 0 0.004007 0 0 OR51B5 282763 broad.mit.edu 37 11 5364734 5364734 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:5364734G>A uc001map.1 - 0 21 c.21C>T c.(19-21)tcC>tcT p.S7S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.S7S NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAAGGGATGGGAGCTGCCGC 0.428000 20 6 0 0 0.001168 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564360 46564360 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:46564360G>A uc001ncv.2 - 7 1251 c.937C>T c.(937-939)Cct>Tct p.P313S AMBRA1_uc010rgt.1_5'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.P403S|AMBRA1_uc001ncu.1_Missense_Mutation_p.P313S|AMBRA1_uc010rgu.1_Missense_Mutation_p.P403S|AMBRA1_uc001ncw.2_Missense_Mutation_p.P313S|AMBRA1_uc001ncx.2_Missense_Mutation_p.P403S NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 403 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TACCTAGAAGGGTGGCTAGAC 0.592000 55 17 0 0 0.007413 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245940 1245940 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:1245940C>T uc002cks.3 + 4 808 c.560C>T c.(559-561)tCg>tTg p.S187L CACNA1H_uc002ckt.3_Missense_Mutation_p.S187L NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 187 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ATGGAGTACTCGTTGGACGGA 0.682000 50 16 0 0 0.006122 0 0 EMR1 2015 broad.mit.edu 37 19 6921867 6921867 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:6921867C>T uc002mfw.3 + 13 1802 c.1764C>T c.(1762-1764)gcC>gcT p.A588A EMR1_uc010dvc.3_Silent_p.A588A|EMR1_uc010dvb.3_Silent_p.A536A|EMR1_uc010xji.2_Silent_p.A447A|EMR1_uc010xjj.2_Silent_p.A411A NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 588 GPS.|Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CAAATCTTGCCGTTATCATGG 0.463000 72 21 0 0 0.002780 0 0 ADCY5 111 broad.mit.edu 37 3 123005552 123005552 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:123005552C>T uc003egh.2 - 19 3637 c.3637G>A c.(3637-3639)Ggt>Agt p.G1213S ADCY5_uc021xdd.1_Missense_Mutation_p.G863S|ADCY5_uc003egg.2_Missense_Mutation_p.G871S NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 1213 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TCGGGTACACCGGTGCTGTCC 0.642000 OREG0004289|OREG0015741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ADCY5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 52 18 0 0 0.006122 0 0 CELA2B 51032 broad.mit.edu 37 1 15808871 15808871 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:15808871C>T uc001awl.3 + 3 364 c.339C>T c.(337-339)tcC>tcT p.S113S NM_015849 NP_056933 P08218 CEL2B_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2B (CELA2B), mRNA. 113 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 ACTGGAACTCCGACCAGGTCT 0.567000 69 22 0 0 0.012319 0 0 ZHX2 22882 broad.mit.edu 37 8 123964360 123964360 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:123964360G>A uc022bag.1 + 0 610 c.610G>A c.(610-612)Gag>Aag p.E204K ZHX2_uc003ypk.1_Missense_Mutation_p.E204K NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA. 204 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E204V(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CAAGAAGCCCGAGGAGATCAC 0.582000 203 26 0 0 0.006320 0 0 PELP1 27043 broad.mit.edu 37 17 4576956 4576956 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:4576956G>A uc002fyi.4 - 13 1822 c.1596C>T c.(1594-1596)acC>acT p.T532T PELP1_uc010vsf.2_Silent_p.T385T NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA. 532 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 ACATGAGGATGGTCCGGCTGA 0.567000 64 16 0 0 0.004007 0 0 SPTBN5 51332 broad.mit.edu 37 15 42167048 42167048 + Missense_Mutation SNP G C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:42167048G>C uc001zos.3 - 22 4722 c.4389C>G c.(4387-4389)caC>caG p.H1463Q NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA. 1498 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACCTCCGGAGGTGCTTCTGGG 0.637000 15 9 0 0 0.006214 0 0 SCN10A 6336 broad.mit.edu 37 3 38753839 38753839 + Missense_Mutation SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:38753839T>G uc003ciq.3 - 21 3902 c.3902A>C c.(3901-3903)aAc>aCc p.N1301T NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1301 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGCGAAGAGGTTCACACCCAT 0.502000 66 22 0 0 0.012319 0 0 COL11A2 1302 broad.mit.edu 37 6 33136330 33136330 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:33136330C>T uc003ocx.1 - 53 4154 c.3926G>A c.(3925-3927)gGg>gAg p.G1309E COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1223E|COL11A2_uc003ocz.1_Missense_Mutation_p.G1202E NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 1309 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1309R(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCCATTCTCCCCGGTGGGACC 0.632000 35 4 0 0 0.000602 0 0 GON4L 54856 broad.mit.edu 37 1 155630502 155630502 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:155630502G>A uc010pgi.2 - 9 1805 c.1613C>T c.(1612-1614)cCc>cTc p.P538L GON4L_uc021paz.1_Missense_Mutation_p.P380L|GON4L_uc010pgg.2_Missense_Mutation_p.P285L|GON4L_uc010pgh.2_Missense_Mutation_p.P389L|GON4L_uc009wqt.3_Missense_Mutation_p.P369L|GON4L_uc001flh.3_Missense_Mutation_p.P518L|GON4L_uc001fll.3_Missense_Mutation_p.P400L|GON4L_uc001flk.3_Missense_Mutation_p.P389L|GON4L_uc001flm.3_Missense_Mutation_p.P389L|GON4L_uc009wqu.3_Missense_Mutation_p.P233L|GON4L_uc009wqv.3_Missense_Mutation_p.P117L|GON4L_uc009wqw.3_Missense_Mutation_p.P369L|GON4L_uc001flj.3_Missense_Mutation_p.P380L|GON4L_uc001fli.3_Missense_Mutation_p.P400L|GON4L_uc001flo.3_Missense_Mutation_p.P334L|GON4L_uc001fln.3_Missense_Mutation_p.P446L|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.P400L NM_001198903 NP_001185832 Q3T8J9 GON4L_HUMAN Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA. 989 Asp-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) AGCCTTCTTGGGGAAACGGTC 0.527000 84 35 0 0 0.003271 0 0 LSG1 55341 broad.mit.edu 37 3 194373738 194373738 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:194373738G>A uc003fui.3 - 7 1208 c.893C>T c.(892-894)cCc>cTc p.P298L NM_018385 NP_060855 Q9H089 LSG1_HUMAN Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA. 298 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ATCCGTTGTGGGATTTTCACT 0.498000 51 13 0 0 0.013537 0 0 RLTPR 146206 broad.mit.edu 37 16 67688253 67688253 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:67688253C>T uc002etn.3 + 30 3360 c.3240C>T c.(3238-3240)gaC>gaT p.D1080D RLTPR_uc010vjr.2_Silent_p.D1044D NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA. 1080 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCGAGGAGGACCCGGCCACTG 0.662000 14 4 0 0 0.000602 0 0 ABCB11 8647 broad.mit.edu 37 2 169842630 169842630 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:169842630G>A uc002ueo.1 - 9 1199 c.1073C>T c.(1072-1074)aCc>aTc p.T358I NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 358 ABC transmembrane type-1 1. bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTGGACAAGGGTTCCTGGTGT 0.428000 8 5 0 0 0.003080 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716235 13716235 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13716235C>T uc001rbt.2 - 12 4116 c.3937G>A c.(3937-3939)Gaa>Aaa p.E1313K NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 1313 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.E1313K(2) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GCGGCTTCTTCCTTCTGCAGG 0.587000 92 25 0 0 0.004656 0 0 TYW5 129450 broad.mit.edu 37 2 200801132 200801132 + Silent SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:200801132T>C uc002uvi.4 - 5 836 c.570A>G c.(568-570)ttA>ttG p.L190L TYW5_uc002uvj.4_Silent_p.L27L|TYW5_uc002uvk.4_Intron|TYW5_uc010fss.3_Silent_p.L27L NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN Homo sapiens tRNA-yW synthesizing protein 5 (TYW5), transcript variant 1, mRNA. 190 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 CCATACCTTTTAAATATAAAT 0.308000 71 33 0 0 0.004289 0 0 CSMD3 114788 broad.mit.edu 37 8 114031299 114031299 + Nonsense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:114031299G>A uc003ynu.3 - 5 1186 c.1027C>T c.(1027-1029)Caa>Taa p.Q343* CSMD3_uc003ynt.3_Nonsense_Mutation_p.Q303*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.Q343*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.Q343* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 343 CUB 2. 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 AGTATACCTTGATAGGGAGCA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 92 13 0 0 0.002450 0 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T A A rs11554290 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:115256529T>A uc009wgu.3 - 2 436 c.182A>T c.(181-183)cAa>cTa p.Q61L NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 112 21 0 0 0.012319 0 0 HCN1 348980 broad.mit.edu 37 5 45396729 45396729 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:45396729G>A uc003jok.3 - 3 1120 c.1095C>T c.(1093-1095)gcC>gcT p.A365A NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 365 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGCTGACTGGGGCTTGGGCTC 0.493000 39 8 0 0 0.003080 0 0 PTGS1 5742 broad.mit.edu 37 9 125148726 125148726 + Splice_Site SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:125148726G>A uc004bmg.1 + 9 1145 c.1010_splice c.e9-1 p.G337_splice PTGS1_uc011lys.1_Splice_Site_p.G312_splice|PTGS1_uc010mwb.1_Splice_Site_p.G228_splice|PTGS1_uc004bmf.1_Splice_Site_p.G337_splice|PTGS1_uc004bmh.1_Splice_Site_p.G228_splice|PTGS1_uc011lyt.1_Splice_Site_p.G228_splice NM_000962 NP_000953 P23219 PGH1_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA. 337 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154) CCTGCCCAGGGGAGACCATCA 0.527000 87 26 0 0 0.003954 0 0 SPOCD1 90853 broad.mit.edu 37 1 32263882 32263882 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:32263882C>T uc001bts.1 - 8 2129 c.2071G>A c.(2071-2073)Gac>Aac p.D691N SPOCD1_uc001btu.3_Missense_Mutation_p.D691N|SPOCD1_uc001btv.3_Missense_Mutation_p.D184N|SPOCD1_uc021oks.1_5'UTR|SPOCD1_uc001btw.1_Missense_Mutation_p.D35N NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 691 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CGCACCAGGTCGTAGGGGGTG 0.647000 96 13 0 0 0.004007 0 0 CCDC68 80323 broad.mit.edu 37 18 52596077 52596077 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:52596077C>T uc002lfs.3 - 7 809 c.637G>A c.(637-639)Gaa>Aaa p.E213K CCDC68_uc002lft.3_Missense_Mutation_p.E213K NM_001143829 NP_079490 Q9H2F9 CCD68_HUMAN Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA. 213 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) AGCTTGTTTTCCAAAGACAGT 0.378000 18 5 0 0 0.000602 0 0 ZBED2 79413 broad.mit.edu 37 3 111312682 111312682 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:111312682C>T uc003dxy.3 - 1 1268 c.367G>A c.(367-369)Gat>Aat p.D123N CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.D123N NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA. 123 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 GGCCTTGGATCCTGGCGCTGC 0.627000 32 10 0 0 0.010729 0 0 ARMC5 79798 broad.mit.edu 37 16 31473806 31473806 + Missense_Mutation SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:31473806T>G uc010vfn.2 + 4 1347 c.1223T>G c.(1222-1224)cTg>cGg p.L408R ARMC5_uc010vfo.2_Missense_Mutation_p.L345R|ARMC5_uc002ecc.3_Missense_Mutation_p.L313R|ARMC5_uc002eca.4_Missense_Mutation_p.L313R|ARMC5_uc002ecb.2_Missense_Mutation_p.L313R|ARMC5_uc010vfp.2_Intron NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA. 313 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCCCAGGGCCTGATTCGGCCT 0.652000 20 6 0 0 0.003080 0 0 ITIH1 3697 broad.mit.edu 37 3 52818369 52818369 + Missense_Mutation SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:52818369T>G uc003dfs.3 + 10 1313 c.1283T>G c.(1282-1284)tTc>tGc p.F428C ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.F286C|ITIH1_uc021wzg.1_Missense_Mutation_p.F140C|ITIH1_uc021wzh.1_Missense_Mutation_p.F140C|ITIH1_uc003dft.3_Missense_Mutation_p.F29C NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 428 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CGGGGCAGGTTCCCGCTCTAC 0.582000 24 5 0 0 0.000602 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190975 42190975 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42190975C>T uc002ori.1 - 1 244 c.242G>A c.(241-243)gGa>gAa p.G81E CEACAM7_uc010ehx.2_Missense_Mutation_p.G81E|CEACAM7_uc010ehy.1_Missense_Mutation_p.G81E NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 81 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TTTTACATATCCTATAATTCG 0.463000 121 38 0 0 0.004878 0 0 DIAPH3 81624 broad.mit.edu 37 13 60240757 60240758 + Missense_Mutation DNP GG AA AA TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:60240757_60240758GG>AA uc001vht.3 - 27 3761_3762 c.3542_3543CC>TT c.(3541-3543)ccc>cTT p.P1181L DIAPH3_uc001vhs.3_Non-coding_Transcript NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA. 1181 actin cytoskeleton organization Rho GTPase binding|actin binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTTCAACTTCGGGAACTGATTC 0.361000 38 10 0 0 0.004672 0 0 RCSD1 92241 broad.mit.edu 37 1 167666945 167666945 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:167666945C>T uc001gem.3 + 5 1271 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S RCSD1_uc010pli.2_Missense_Mutation_p.P332S NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN Homo sapiens RCSD domain containing 1 (RCSD1), mRNA. 362 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CGGAGATGTCCCCAAGCAGGA 0.607000 20 4 0 0 0.001168 0 0 PAPPA 5069 broad.mit.edu 37 9 119124940 119124940 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:119124940G>A uc004bjn.3 + 17 4798 c.4417G>A c.(4417-4419)Gag>Aag p.E1473K PAPPA_uc011lxq.2_Missense_Mutation_p.E848K NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1473 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.E1473K(2) 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 TGTCTGCCAGGAGATGCAAGG 0.537000 43 14 0 0 0.002450 0 0 CDR2 1039 broad.mit.edu 37 16 22358777 22358777 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:22358777C>T uc002dkn.3 - 4 1182 c.874G>A c.(874-876)Gaa>Aaa p.E292K NM_001802 NP_001793 Q01850 CDR2_HUMAN Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA. 292 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) AACATCTCTTCCAGCAGGCTC 0.517000 17 10 0 0 0.006214 0 0 CSN2 1447 broad.mit.edu 37 4 70823381 70823381 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:70823381G>A uc003hes.4 - 4 299 c.286C>T c.(286-288)Cct>Tct p.P96S CSN2_uc003het.4_Missense_Mutation_p.P95S NM_001891 NP_001882 P05814 CASB_HUMAN Homo sapiens casein beta (CSN2), mRNA. 96 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 ATTATTTCAGGCTGAGGGACA 0.473000 26 8 0 0 0.004482 0 0 TNS4 84951 broad.mit.edu 37 17 38641257 38641257 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:38641257G>A uc010cxb.3 - 4 1455 c.1291C>T c.(1291-1293)Ccc>Tcc p.P431S NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN Homo sapiens tensin 4 (TNS4), mRNA. 431 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TCCCTGGCGGGACCTGGAGAC 0.542000 27 7 0 0 0.003080 0 0 CIITA 4261 broad.mit.edu 37 16 11000964 11000964 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:11000964C>T uc002daj.4 + 10 1751 c.1618C>T c.(1618-1620)Cga>Tga p.R540* CIITA_uc002dai.4_Nonsense_Mutation_p.R539*|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Nonsense_Mutation_p.R539*|CIITA_uc002dah.2_Nonsense_Mutation_p.R491*|CIITA_uc010bup.1_Intron NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 539 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GAAGCTGCTCCGAGGTTGCAC 0.687000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 23 4 0 0 0.000602 0 0 PCDH1 5097 broad.mit.edu 37 5 141233812 141233812 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:141233812C>T uc003llp.3 - 4 3626 c.3509G>A c.(3508-3510)gGc>gAc p.G1170D NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding p.A1169A(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GCTGGGGCTGCCGGCGCCCGC 0.672000 11 4 0 0 0.009096 0 0 C3orf15 89876 broad.mit.edu 37 3 119458102 119458102 + Splice_Site SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:119458102G>A uc003ede.4 + 12 1539 c.1462_splice c.e12-1 p.E488_splice C3orf15_uc010hqy.2_Splice_Site_p.E488_splice|C3orf15_uc010hqz.3_Splice_Site_p.E426_splice|C3orf15_uc011bjd.2_Splice_Site_p.E362_splice|C3orf15_uc011bje.2_Splice_Site_p.E468_splice|C3orf15_uc010hra.2_Splice_Site_p.E249_splice NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA. 324 mitochondrion protein binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.186) GTTCTTTTAGGAAGAAGAAGA 0.438000 153 39 0 0 0.006999 0 0 GOLGB1 2804 broad.mit.edu 37 3 121417610 121417610 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:121417610C>T uc010hrc.3 - 12 1886 c.1760G>A c.(1759-1761)gGa>gAa p.G587E GOLGB1_uc003eei.4_Missense_Mutation_p.G582E|GOLGB1_uc003eej.4_Missense_Mutation_p.G548E|GOLGB1_uc021xcy.1_Missense_Mutation_p.G507E|GOLGB1_uc011bjm.1_Missense_Mutation_p.G468E|GOLGB1_uc010hrd.1_Missense_Mutation_p.G546E NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 582 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGCCCTTTTTCCCTGGAGCTG 0.358000 34 4 0 0 0.009096 0 0 NEB 4703 broad.mit.edu 37 2 152520064 152520064 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:152520064C>T uc021vrb.1 - 42 5790 c.5761G>A c.(5761-5763)Gat>Aat p.D1921N NEB_uc002txu.3_Missense_Mutation_p.D1921N|NEB_uc021vrc.1_Missense_Mutation_p.D1921N|NEB_uc010fnx.3_Missense_Mutation_p.D1921N|NEB_uc021vrd.1_Missense_Mutation_p.D1921N NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 1921 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCACGTACATCACTTTGAATC 0.408000 19 4 0 0 0.009096 0 0 abParts 0 broad.mit.edu 37 14 107211365 107211365 + RNA SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:107211365G>A uc021ser.1 - 14 c.1110C>T Parts of antibodies, mostly variable regions. TAGCAACAAGGAAAACCCAGC 0.507000 150 43 0 0 0.014410 0 0 COL1A1 1277 broad.mit.edu 37 17 48264038 48264038 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:48264038G>A uc002iqm.3 - 47 3903 c.3777C>T c.(3775-3777)tgC>tgT p.C1259C DD181999_uc021tzy.1_5'Flank NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1259 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TGAGGTCACGGCAGGTGCGGG 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 60 15 0 0 0.002450 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464243 141464243 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:141464243G>A uc003vwp.1 + 0 347 c.285G>A c.(283-285)ctG>ctA p.L95L NM_016943 NP_058639 Q9NYW6 TA2R3_HUMAN Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA. 95 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) CAAACCATCTGAGCATTTGGC 0.423000 134 41 0 0 0.011902 0 0 NLRP7 199713 broad.mit.edu 37 19 55450300 55450300 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:55450300G>A uc002qih.4 - 3 1963 c.1887C>T c.(1885-1887)ttC>ttT p.F629F NLRP7_uc010esk.3_Silent_p.F629F|NLRP7_uc002qig.4_Silent_p.F629F|NLRP7_uc002qii.4_Silent_p.F629F|NLRP7_uc010esl.3_Silent_p.F657F NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 629 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AATTCTCCAGGAACACCCCCT 0.453000 49 18 0 0 0.006122 0 0 RUSC2 9853 broad.mit.edu 37 9 35558458 35558458 + Splice_Site SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:35558458G>A uc003zww.3 + 8 3491 c.3236_splice c.e8-1 p.G1079_splice RUSC2_uc010mkq.3_Splice_Site|RUSC2_uc003zwx.4_Splice_Site_p.G1079_splice NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 1079 RUN. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CTTCCTCCCAGGCCCATCCAC 0.572000 163 30 0 0 0.003755 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19715897 19715897 + Missense_Mutation SNP A C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:19715897A>C uc002ykw.3 - 11 1385 c.1354T>G c.(1354-1356)Ttc>Gtc p.F452V NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 452 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TCCTTTTGGAAAACTGTCTTC 0.289000 58 14 0 0 0.002450 0 0 RB1 5925 broad.mit.edu 37 13 49027168 49027168 + Nonsense_Mutation SNP C T T rs121913305 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:49027168C>T uc001vcb.3 + 17 1901 c.1735C>T c.(1735-1737)Cga>Tga p.R579* NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 579 Domain A.|Pocket; binds T and E1A. G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.R579*(10)|p.?(10)|p.R579fs*29(2) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCAAAGGACCGAGAAGGACC 0.338000 R579*(SW1783_CENTRAL_NERVOUS_SYSTEM) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 20 6 0 0 0.001984 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077096 45077096 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:45077096G>A uc003cok.4 + 2 385 c.289G>A c.(289-291)Gac>Aac p.D97N NM_003278 NP_003269 P05452 TETN_HUMAN Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA. 97 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCAGCGAGGACTGCATCTC 0.632000 45 6 0 0 0.001984 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092519 202092519 + Missense_Mutation SNP T A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:202092519T>A uc001gxj.3 + 0 491 c.428T>A c.(427-429)gTg>gAg p.V143E NM_004767 NP_004758 O60883 ETBR2_HUMAN Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA. 143 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GTGTTTGCGGTGGGCATTGTG 0.592000 49 17 0 0 0.004990 0 0 BAG3 9531 broad.mit.edu 37 10 121436223 121436223 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:121436223C>T uc001lem.3 + 3 1463 c.1157C>T c.(1156-1158)tCc>tTc p.S386F BAG3_uc001lel.3_Missense_Mutation_p.S385F NM_004281 NP_004272 O95817 BAG3_HUMAN Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA. 386 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GTCCCCTCTTCCCCCAAGAGT 0.607000 46 15 0 0 0.004990 0 0 XIRP2 129446 broad.mit.edu 37 2 168101234 168101234 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:168101234C>T uc002udx.3 + 8 3421 c.3332C>T c.(3331-3333)tCg>tTg p.S1111L XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.S936L|XIRP2_uc010fpq.3_Missense_Mutation_p.S889L|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 936 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAAAAGTTTCGTTAATGACC 0.368000 14 5 0 0 0.001984 0 0 DPP6 1804 broad.mit.edu 37 7 154564580 154564580 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:154564580C>T uc003wlk.3 + 9 1193 c.1064C>T c.(1063-1065)tCc>tTc p.S355F DPP6_uc003wli.3_Missense_Mutation_p.S291F|DPP6_uc003wlm.3_Missense_Mutation_p.S293F|DPP6_uc011kvq.2_Missense_Mutation_p.S248F NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 355 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCCAGCATTTCCCTACACGTT 0.468000 25 6 0 0 0.001984 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834259 125834259 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:125834259C>T uc001uhe.1 + 1 322 c.314C>T c.(313-315)tCt>tTt p.S105F TMEM132B_uc021rgl.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 105 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGTTGACATCTACAGCCTTT 0.478000 103 35 0 0 0.003755 0 0 PNPLA5 150379 broad.mit.edu 37 22 44285393 44285393 + Missense_Mutation SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:44285393T>C uc003beg.3 - 3 651 c.518A>G c.(517-519)aAc>aGc p.N173S PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.N173S|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_Intron NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA. 173 Patatin. lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GGGCAAGTTGTTGCTCAGAGC 0.632000 106 22 0 0 0.014323 0 0 JHDM1D 80853 broad.mit.edu 37 7 139827337 139827337 + Missense_Mutation SNP G T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:139827337G>T uc003vvm.3 - 4 610 c.606C>A c.(604-606)gaC>gaA p.D202E NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 202 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 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 central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TCATTTTGCTGTCTGCCTGCC 0.368000 108 27 1.55811e-20 1.83162e-20 0.008361 1 0 L3MBTL3 84456 broad.mit.edu 37 6 130413953 130413953 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:130413953C>T uc003qbt.3 + 16 1758 c.1582C>T c.(1582-1584)Cac>Tac p.H528Y L3MBTL3_uc003qbu.3_Missense_Mutation_p.H503Y NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA. 528 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) TCCTGATATTCACCCTGTAGG 0.403000 46 12 0 0 0.001855 0 0 SPRED2 200734 broad.mit.edu 37 2 65540935 65540935 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:65540935C>T uc002sdr.4 - 5 1492 c.957G>A c.(955-957)gaG>gaA p.E319E SPRED2_uc010fcw.3_Silent_p.E316E NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA. 319 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GGCGGTTCTCCTCGTGGTTGA 0.667000 99 27 0 0 0.010818 0 0 LRP2BP 55805 broad.mit.edu 37 4 186296788 186296788 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:186296788C>T uc003ixj.2 - 2 1121 c.309G>A c.(307-309)ggG>ggA p.G103G LRP2BP_uc003ixk.2_Silent_p.G77G NM_018409 NP_060879 Q9P2M1 LR2BP_HUMAN Homo sapiens LRP2 binding protein (LRP2BP), mRNA. 103 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TGGTCCCCAGCCCATCATAGT 0.383000 55 15 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9064689 9064689 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9064689G>A uc002mkp.3 - 2 22961 c.22757C>T c.(22756-22758)tCc>tTc p.S7586F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7588 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.T7585T(1) 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 GCCTGACATGGATGTTCTGCT 0.488000 72 19 0 0 0.010504 0 0 ERBB4 2066 broad.mit.edu 37 2 212522512 212522512 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:212522512C>T uc002veg.1 - 15 2011 c.1913G>A c.(1912-1914)tGg>tAg p.W638* ERBB4_uc002veh.1_Nonsense_Mutation_p.W638*|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Nonsense_Mutation_p.W638* 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. 638 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 p.W638L(2) 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) ATGGCCCGTCCATGGGTAGTA 0.428000 TSP Lung(8;0.080) 73 14 0 0 0.003163 0 0 HDHD2 84064 broad.mit.edu 37 18 44656643 44656643 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:44656643G>A uc002lcs.3 - 3 500 c.367C>T c.(367-369)Cat>Tat p.H123Y HDHD2_uc002lct.3_Missense_Mutation_p.H33Y NM_032124 NP_115500 Q9H0R4 HDHD2_HUMAN Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA. 123 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 ATTTGATAATGAAAATGTTCT 0.343000 59 28 0 0 0.010818 0 0 SLC1A7 6512 broad.mit.edu 37 1 53553770 53553770 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:53553770G>A uc021onn.1 - 10 1939 c.1771C>T c.(1771-1773)Ccc>Tcc p.P591S SLC1A7_uc021onm.1_Missense_Mutation_p.P466L|SLC1A7_uc001cux.3_Missense_Mutation_p.P185S|SLC1A7_uc001cuy.3_Missense_Mutation_p.P532S|SLC1A7_uc021ono.1_Non-coding_Transcript NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 532 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) ACTTGAACGGGGACGTGGTGG 0.637000 33 13 0 0 0.003163 0 0 ABCB11 8647 broad.mit.edu 37 2 169801162 169801162 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:169801162C>T uc002ueo.1 - 20 2689 c.2563G>A c.(2563-2565)Gga>Aga p.G855R ABCB11_uc010zda.1_Missense_Mutation_p.G297R|ABCB11_uc010zdb.1_Missense_Mutation_p.G331R NM_003742 NP_003733 O95342 ABCBB_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA. 855 ABC transmembrane type-1 2. G -> R (in ethinylestradiol/gestodene- induced cholestasis; loss of transport capacity for taurocholate). bile acid biosynthetic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GTCAATGCTCCAGGGCTATTT 0.443000 44 12 0 0 0.002450 0 0 NDNF 79625 broad.mit.edu 37 4 121958404 121958404 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:121958404G>A uc003idq.1 - 3 1249 c.722C>T c.(721-723)cCg>cTg p.P241L NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 241 p.P241Q(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 ACCAGGTTTCGGTGCCATCAT 0.453000 37 4 0 0 0.009096 0 0 CCR2 729230 broad.mit.edu 37 3 46399721 46399721 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:46399721G>A uc003cpn.4 + 1 1188 c.703G>A c.(703-705)Gag>Aag p.E235K CCR2_uc003cpm.4_Missense_Mutation_p.E235K|CCR2_uc021wxa.1_Missense_Mutation_p.E235K NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 235 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GTGTCGAAACGAGAAGAAGAG 0.468000 188 45 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13841988 13841988 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13841988G>A uc003jfd.2 - 32 5339 c.5297C>T c.(5296-5298)tCc>tTc p.S1766F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1766 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCTTGAGAGGAAATTGACAG 0.333000 Kartagener syndrome 31 8 0 0 0.004482 0 0 ETV4 2118 broad.mit.edu 37 17 41607273 41607273 + Missense_Mutation SNP C G G rs147888887 by1000genomes TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:41607273C>G uc002idw.3 - 9 1062 c.934G>C c.(934-936)Gtt>Ctt p.V312L ETV4_uc002idv.3_Missense_Mutation_p.V35L|ETV4_uc010wih.2_Missense_Mutation_p.V258L|ETV4_uc010czh.3_Missense_Mutation_p.V311L|ETV4_uc010wii.2_Missense_Mutation_p.V273L|ETV4_uc002idx.3_Missense_Mutation_p.V312L|ETV4_uc010wij.2_Missense_Mutation_p.V273L NM_001986 NP_001977 P43268 ETV4_HUMAN Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA. 312 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) TCAGGGACAACGCAGACATCA 0.512000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 158 35 0 0 0.008740 0 0 CIT 11113 broad.mit.edu 37 12 120156162 120156162 + Silent SNP C T T rs140364771 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:120156162C>T uc001txj.2 - 31 4112 c.4056G>A c.(4054-4056)gcG>gcA p.A1352A CIT_uc001txh.2_Silent_p.A829A|CIT_uc001txi.2_Silent_p.A1310A NM_001206999 NP_001193928 O14578 CTRO_HUMAN Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA. 1310 intracellular signal transduction ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTGCTGCCTCGCGGTGGCTG 0.642000 57 12 0 0 0.001855 0 0 IPO9 55705 broad.mit.edu 37 1 201828048 201828048 + Missense_Mutation SNP T G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:201828048T>G uc001gwz.3 + 12 1444 c.1394T>G c.(1393-1395)gTg>gGg p.V465G NM_018085 NP_060555 Q96P70 IPO9_HUMAN Homo sapiens importin 9 (IPO9), mRNA. 465 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ACTGACAGTGTGAAAAATGGC 0.473000 53 11 0 0 0.010729 0 0 ZNF317 57693 broad.mit.edu 37 19 9270856 9270856 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9270856C>T uc002mku.3 + 6 840 c.535C>T c.(535-537)Cct>Tct p.P179S ZNF317_uc002mkv.3_Missense_Mutation_p.P38S|ZNF317_uc002mkw.3_Missense_Mutation_p.P147S|ZNF317_uc002mkx.3_Missense_Mutation_p.P94S|ZNF317_uc002mky.3_Missense_Mutation_p.P62S NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA. 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGGCATGGACCCTCATCTCAC 0.552000 40 14 0 0 0.003163 0 0 TMEM67 91147 broad.mit.edu 37 8 94809639 94809639 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:94809639C>T uc011lgk.2 + 19 2112 c.2041C>T c.(2041-2043)Cag>Tag p.Q681* TMEM67_uc010maw.2_Nonsense_Mutation_p.Q387*|TMEM67_uc003yga.4_Nonsense_Mutation_p.Q600*|TMEM67_uc011lgl.2_Nonsense_Mutation_p.Q80* NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 681 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GAATGAAATTCAGACTGTGAG 0.363000 83 12 0 0 0.010729 0 0 MLLT6 4302 broad.mit.edu 37 17 36873075 36873075 + Silent SNP T C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:36873075T>C uc002hqi.4 + 9 1505 c.1492T>C c.(1492-1494)Ttg>Ctg p.L498L MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank NM_005937 NP_005928 P55198 AF17_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA. 498 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TGCCCCATCCTTGCCCAGTGC 0.667000 T MLL AL 9 3 0 0 0.004672 0 0 PAGE5 90737 broad.mit.edu 37 X 55247081 55247081 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:55247081G>A uc004duj.3 + 0 291 c.49G>A c.(49-51)Gaa>Aaa p.E17K PAGE5_uc004duk.3_Intron NM_130467 NP_001013453 Q96GU1 GGEE1_HUMAN Homo sapiens P antigen family, member 5 (prostate associated) (PAGE5), transcript variant 1, mRNA. 17 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 AACGAGGGAGGAAGGTAGGCC 0.637000 6 4 0 0 0.009096 0 0 MBOAT1 154141 broad.mit.edu 37 6 20124763 20124763 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:20124763G>A uc003ncx.1 - 7 988 c.783C>T c.(781-783)acC>acT p.T261T MBOAT1_uc011dji.1_Silent_p.T112T NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA. 261 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) TGACAGGAAAGGTCTTCGTTA 0.478000 94 15 0 0 0.010504 0 0 OR13C8 138802 broad.mit.edu 37 9 107331456 107331457 + Missense_Mutation DNP GG AA AA TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:107331456_107331457GG>AA uc011lvo.2 + 0 8_9 c.8_9GG>AA c.(7-9)agg>aAA p.R3K NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 AATATGGAAAGGACCAACGATT 0.396000 74 7 0 0 0.004672 0 0 MOXD1 26002 broad.mit.edu 37 6 132645187 132645187 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:132645187C>T uc003qdf.3 - 6 1095 c.996G>A c.(994-996)agG>agA p.R332R MOXD1_uc003qde.3_Silent_p.R264R NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA. 332 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CATCATATTTCCTTATATCCA 0.418000 35 10 0 0 0.008291 0 0 DNAH9 1770 broad.mit.edu 37 17 11535913 11535913 + Missense_Mutation SNP A T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:11535913A>T uc002gne.3 + 7 1596 c.1528A>T c.(1528-1530)Aat>Tat p.N510Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 510 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) GGACTTTGAAAATGACGTCTC 0.393000 48 10 0 0 0.008291 0 0 PKD1L1 168507 broad.mit.edu 37 7 47840383 47840383 + Missense_Mutation SNP A T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:47840383A>T uc003tny.2 - 53 8091 c.8057T>A c.(8056-8058)tTc>tAc p.F2686Y C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2686 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAGCCCGGGGAAGGCGTCTGT 0.577000 91 17 0 0 0.010504 0 0 ANXA13 312 broad.mit.edu 37 8 124696873 124696873 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:124696873G>A uc003yqt.3 - 10 1004 c.931C>T c.(931-933)Cgc>Tgc p.R311C ANXA13_uc003yqu.3_Missense_Mutation_p.R270C NM_001003954 NP_001003954 P27216 ANX13_HUMAN Homo sapiens annexin A13 (ANXA13), transcript variant 2, mRNA. 270 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) ACGACTATGCGAATCAACGTC 0.512000 126 14 0 0 0.004007 0 0 ADCY4 196883 broad.mit.edu 37 14 24800431 24800431 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:24800431C>T uc001wow.3 - 4 1220 c.801G>A c.(799-801)aaG>aaA p.K267K ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.K267K|ADCY4_uc001woy.3_Silent_p.K267K NM_001198568 NP_001185497 Q8NFM4 ADCY4_HUMAN Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA. 267 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CCTGGTGCCTCTTGACATAGA 0.602000 59 19 0 0 0.008871 0 0 PIGR 5284 broad.mit.edu 37 1 207110450 207110450 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:207110450G>A uc001hez.3 - 3 1219 c.1035C>T c.(1033-1035)ttC>ttT p.F345F PIGR_uc009xbz.3_Silent_p.F345F NM_002644 NP_002635 P01833 PIGR_HUMAN Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA. 345 Ig-like V-type 3. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCTCATTGACGAAGAGTTGCC 0.582000 23 9 0 0 0.006214 0 0 PODN 127435 broad.mit.edu 37 1 53544333 53544333 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:53544333C>T uc001cuv.3 + 7 1463 c.1295C>T c.(1294-1296)aCc>aTc p.T432I PODN_uc010onr.2_Missense_Mutation_p.T413I|PODN_uc010ons.2_Missense_Mutation_p.T290I|PODN_uc001cuw.3_Missense_Mutation_p.T413I NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN Homo sapiens podocan (PODN), transcript variant 1, mRNA. 384 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGCGTGCGCACCCTCATGATC 0.627000 90 25 0 0 0.002780 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101789 46101789 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:46101789G>A uc002zfv.3 - 0 290 c.250C>T c.(250-252)Ctc>Ttc p.L84F TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181686 NP_859014 P59990 KR121_HUMAN Homo sapiens keratin associated protein 12-1 (KRTAP12-1), mRNA. 84 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGTCTGCAGAGGACGCTGGTG 0.642000 48 10 0 0 0.006214 0 0 ABCC3 8714 broad.mit.edu 37 17 48762092 48762092 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:48762092C>T uc002isl.3 + 28 4216 c.4136C>T c.(4135-4137)aCc>aTc p.T1379I ABCC3_uc002isn.3_Missense_Mutation_p.T133I NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1379 ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TTCTCGGGGACCCTGCGCATG 0.617000 74 13 0 0 0.002450 0 0 IFNA16 3449 broad.mit.edu 37 9 21216974 21216974 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:21216974C>T uc003zor.1 - 0 337 c.331G>A c.(331-333)Gaa>Aaa p.E111K IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN Homo sapiens interferon, alpha 16 (IFNA16), mRNA. 111 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 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGGAAAAGTTCAATGTAGAAT 0.488000 95 26 0 0 0.003954 0 0 SUN5 140732 broad.mit.edu 37 20 31573551 31573551 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:31573551G>A uc002wyi.3 - 10 981 c.888C>T c.(886-888)ttC>ttT p.F296F NM_080675 NP_542406 Q8TC36 SUN5_HUMAN Homo sapiens Sad1 and UNC84 domain containing 5 (SUN5), mRNA. 296 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CATAGATGACGAAGTCCTTGG 0.537000 42 8 0 0 0.006214 0 0 ACOT4 122970 broad.mit.edu 37 14 74062179 74062179 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:74062179G>A uc001xoo.3 + 2 1341 c.1087G>A c.(1087-1089)Gag>Aag p.E363K NM_152331 NP_689544 Q8N9L9 ACOT4_HUMAN Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA. 363 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) GCATTACATCGAGCCTCCTTA 0.517000 50 19 0 0 0.006122 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281594 103281594 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:103281594G>A uc002tca.3 + 2 931 c.789G>A c.(787-789)atG>atA p.M263I NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 263 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTTGCCAGATGAAAACCATTG 0.463000 86 28 0 0 0.007291 0 0 RTP3 83597 broad.mit.edu 37 3 46542110 46542110 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:46542110C>T uc003cps.1 + 1 488 c.420C>T c.(418-420)atC>atT p.I140I NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA. 140 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TTCCTATGATCAAGGACATCT 0.473000 92 24 0 0 0.003330 0 0 AL117485 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G C C rs5993363 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:18846025G>C uc002zoe.3 + 4 c.2387G>C AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. GACGTTGAAGGCTGCCTTCAG 0.647000 51 4 0 0 0.001168 0 0 ASPH 444 broad.mit.edu 37 8 62566152 62566152 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:62566152G>A uc003xuj.3 - 3 659 c.390C>T c.(388-390)ccC>ccT p.P130P ASPH_uc011leg.2_Silent_p.P101P|ASPH_uc003xuo.2_Silent_p.P130P|ASPH_uc003xul.3_Silent_p.P116P|ASPH_uc011lei.2_Silent_p.P116P|ASPH_uc011lej.2_Silent_p.P116P|ASPH_uc011leh.2_Silent_p.P116P|ASPH_uc003xum.3_Silent_p.P130P|ASPH_uc003xun.3_Silent_p.P130P|ASPH_uc011lek.2_Silent_p.P130P NM_004318 NP_004309 Q12797 ASPH_HUMAN Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA. 130 Glu-rich. muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CCTGCTCCTCGGGCTCAGTGT 0.517000 32 25 0 0 0.009535 0 0 SLC22A8 9376 broad.mit.edu 37 11 62763520 62763520 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:62763520C>T uc009yon.3 - 5 987 c.866G>A c.(865-867)gGa>gAa p.G289E SLC22A8_uc001nwn.1_Missense_Mutation_p.G80E|SLC22A8_uc009yom.3_Missense_Mutation_p.G166E|SLC22A8_uc001nwo.3_Missense_Mutation_p.G289E|SLC22A8_uc010rmm.2_Missense_Mutation_p.G198E|SLC22A8_uc001nwp.2_Missense_Mutation_p.G289E NM_001184732 NP_001171665 Q8TCC7 S22A8_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA. 289 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GAGCCTTTCTCCCTCTTCCTT 0.582000 76 17 0 0 0.006122 0 0 NBPF7 343505 broad.mit.edu 37 1 120385063 120385063 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:120385063C>T uc010oxk.2 - 1 952 c.331G>A c.(331-333)Gag>Aag p.E111K NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA. 111 cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2) 24 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CACCTGAGCTCCTCAGCTTGC 0.542000 257 60 0 0 0.014410 0 0 HPX 3263 broad.mit.edu 37 11 6459666 6459666 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:6459666G>A uc001mdg.2 - 4 471 c.410C>T c.(409-411)cCt>cTt p.P137L HPX_uc009yfc.2_Non-coding_Transcript NM_000613 NP_000604 P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 137 Hemopexin-like 2. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TGGGATTCCAGGAAATTCATC 0.488000 80 15 0 0 0.003163 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348656 140348656 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140348656C>T uc003lii.3 + 0 2910 c.2305C>T c.(2305-2307)Ccg>Tcg p.P769S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.P769S NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 769 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) TGCCAGGATACCGCATGGCCT 0.527000 52 14 0 0 0.002450 0 0 POF1B 79983 broad.mit.edu 37 X 84622723 84622723 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:84622723G>A uc004eer.2 - 2 477 c.331C>T c.(331-333)Cta>Tta p.L111L POF1B_uc004ees.3_Silent_p.L111L NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 111 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GTTATATGTAGAGTACTTGGG 0.318000 22 8 0 0 0.008291 0 0 CCL20 6364 broad.mit.edu 37 2 228681022 228681022 + Splice_Site SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:228681022G>A uc002vpl.2 + 3 262 c.192_splice c.e3-1 p.I64_splice CCL20_uc002vpm.2_Splice_Site_p.I63_splice NM_004591 NP_004582 P78556 CCL20_HUMAN Homo sapiens chemokine (C-C motif) ligand 20 (CCL20), transcript variant 1, mRNA. 64 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity cervix(1)|lung(2) 3 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TGATTTTTCAGCTTTCACACA 0.333000 29 7 0 0 0.006214 0 0 FNDC7 163479 broad.mit.edu 37 1 109270531 109270531 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:109270531G>A uc001dvx.3 + 6 1213 c.1213G>A c.(1213-1215)Gct>Act p.A405T FNDC7_uc010ova.2_Missense_Mutation_p.A172T NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA. 406 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TGAAACCAAGGCTGTAGATGG 0.498000 67 21 0 0 0.010504 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360350 55360350 + Missense_Mutation SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:55360350A>G uc003pcn.3 - 7 911 c.752T>C c.(751-753)aTt>aCt p.I251T HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.I221T|HMGCLL1_uc010jzx.3_Missense_Mutation_p.I122T|HMGCLL1_uc011dxc.2_Missense_Mutation_p.I189T|HMGCLL1_uc011dxd.2_Missense_Mutation_p.I118T NM_019036 NP_061909 Q8TB92 HMGC2_HUMAN Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA. 251 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TCCCACTCCAATTGTGTCTCC 0.418000 28 18 0 0 0.007413 0 0 ACE 1636 broad.mit.edu 37 17 61568324 61568324 + Nonsense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:61568324G>A uc002jau.2 + 17 2685 c.2651G>A c.(2650-2652)tGg>tAg p.W884* ACE_uc010wpj.2_Nonsense_Mutation_p.W310*|ACE_uc010ddv.2_Nonsense_Mutation_p.W111*|ACE_uc002jav.2_Nonsense_Mutation_p.W310*|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Nonsense_Mutation_p.W130* NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 884 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGGAACATGTGGGCGCAGACC 0.582000 96 23 0 0 0.006320 0 0 SLC43A3 29015 broad.mit.edu 37 11 57157409 57157409 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:57157409G>A uc001nkc.3 - 1 83 c.9C>T c.(7-9)ctC>ctT p.L3L SLC43A3_uc001nkd.3_Silent_p.L3L|SLC43A3_uc001nke.3_Silent_p.L283L NM_002728 NP_002719 Q8NBI5 S43A3_HUMAN Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA. 0 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 GAAGTAAGGGGAGTTTCATCT 0.428000 112 19 0 0 0.006122 0 0 CDSN 1041 broad.mit.edu 37 6 31084629 31084629 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:31084629C>T uc003nsm.2 - 1 819 c.763G>A c.(763-765)Gtg>Atg p.V255M PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron NM_001264 NP_001255 Q15517 CDSN_HUMAN Homo sapiens corneodesmosin (CDSN), mRNA. 255 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TCCACCACCACCACCACAGGC 0.652000 30 9 0 0 0.006214 0 0 LRFN4 78999 broad.mit.edu 37 11 66626527 66626527 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:66626527C>T uc001ojr.3 + 0 1652 c.1312C>T c.(1312-1314)Cag>Tag p.Q438* PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron NM_024036 NP_076941 Q6PJG9 LRFN4_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA. 438 Fibronectin type-III. integral to membrane breast(1)|lung(1)|prostate(1) 3 GTTCCAAATCCAGTACAACAG 0.672000 70 20 0 0 0.014323 0 0 VPS13A 23230 broad.mit.edu 37 9 79922920 79922920 + Missense_Mutation SNP G T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:79922920G>T uc004akr.3 + 34 4280 c.4020G>T c.(4018-4020)tgG>tgT p.W1340C VPS13A_uc004akp.4_Missense_Mutation_p.W1340C|VPS13A_uc004akq.4_Missense_Mutation_p.W1340C|VPS13A_uc004aks.3_Missense_Mutation_p.W1301C|VPS13A_uc010mpo.1_5'UTR NM_033305 NP_150648 Q96RL7 VP13A_HUMAN Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA. 1340 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCAATATATGGTATGAAAAAG 0.343000 36 14 9.05144e-12 1.06194e-11 0.001855 1 0 PCDHB6 56130 broad.mit.edu 37 5 140531209 140531209 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140531209C>T uc003lir.3 + 0 1371 c.1371C>T c.(1369-1371)ttC>ttT p.F457F NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 457 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.F457F(2) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.612000 135 39 0 0 0.013114 0 0 GLYCTK 132158 broad.mit.edu 37 3 52324385 52324385 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:52324385C>T uc003ddo.3 + 1 123 c.27C>T c.(25-27)ccC>ccT p.P9P GLYCTK_uc003ddq.2_Silent_p.P9P|GLYCTK_uc003ddm.3_Intron|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.P9P|GLYCTK_uc003ddr.3_5'Flank NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA. 9 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) AGGTCCTGCCCCGCTTGGCCC 0.662000 26 5 0 0 0.000602 0 0 KRT12 3859 broad.mit.edu 37 17 39021105 39021105 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:39021105C>T uc002hvk.2 - 2 784 c.760G>A c.(760-762)Gag>Aag p.E254K NM_000223 NP_000214 Q99456 K1C12_HUMAN Homo sapiens keratin 12 (KRT12), mRNA. 254 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TTCAGGCTCTCGATCTGCATC 0.592000 95 25 0 0 0.003954 0 0 MUC17 140453 broad.mit.edu 37 7 100694923 100694923 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100694923C>T uc003uxp.1 + 7 12957 c.12904C>T c.(12904-12906)Caa>Taa p.Q4302* MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4302 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) CACTGGCACCCAAGTGCAAAA 0.537000 36 9 0 0 0.008291 0 0 AGR3 155465 broad.mit.edu 37 7 16918164 16918164 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:16918164C>T uc003sts.3 - 1 152 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_176813 NP_789783 Q8TD06 AGR3_HUMAN Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA. 27 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GGCCTCTTTTCCTTTTTTATT 0.403000 54 19 0 0 0.007413 0 0 AK302514 0 broad.mit.edu 37 6 66013283 66013283 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:66013283C>T uc011dxv.2 + 1 1560 c.869C>T c.(868-870)tCg>tTg p.S290L EYS_uc011dxu.1_Intron SubName: Full=cDNA FLJ60373, highly similar to Zinc finger CCCH domain-containing protein11A; CGAAAATTTTCGACAGGCGGT 0.493000 29 8 0 0 0.002450 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032355 10032355 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:10032355C>T uc010uym.2 - 3 778 c.468G>A c.(466-468)acG>acA p.T156T GRIN2A_uc002czo.4_Silent_p.T156T|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Silent_p.T156T NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 156 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T156T(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCAGCATGACCGTGGCTTGCT 0.507000 53 10 0 0 0.008291 0 0 NID1 4811 broad.mit.edu 37 1 236212199 236212199 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:236212199G>A uc001hxo.3 - 1 418 c.316C>T c.(316-318)Cct>Tct p.P106S NID1_uc009xgd.3_Missense_Mutation_p.P106S NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 106 NIDO. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCCAGGAAAGGGGCGACTGCA 0.552000 95 34 0 0 0.004878 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29966482 29966482 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:29966482G>A uc003afx.4 - 1 393 c.138C>T c.(136-138)tcC>tcT p.S46S NIPSNAP1_uc011akp.2_Silent_p.S26S NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN Homo sapiens nipsnap homolog 1 (C. elegans) (NIPSNAP1), transcript variant 1, mRNA. 46 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 GAACAAAGAGGGAGCGGAACC 0.562000 12 6 0 0 0.001984 0 0 BAZ2A 11176 broad.mit.edu 37 12 57003922 57003922 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:57003922G>A uc001slq.1 - 8 2057 c.1863C>T c.(1861-1863)ttC>ttT p.F621F BAZ2A_uc001slp.1_Silent_p.F619F|BAZ2A_uc009zow.1_Silent_p.F589F NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA. 621 DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TTTCTTCAAAGAAATCTCCAA 0.512000 102 14 0 0 0.004007 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432608 140432608 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140432608G>A uc003lik.1 + 0 1630 c.1553G>A c.(1552-1554)aGa>aAa p.R518K NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 518 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACGCGCTGAGAACCATGGAT 0.433000 33 6 0 0 0.001168 0 0 RELA 5970 broad.mit.edu 37 11 65429188 65429188 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65429188G>A uc010ron.2 - 3 478 c.338C>T c.(337-339)gCt>gTt p.A113V RELA_uc001off.3_Missense_Mutation_p.A102V|RELA_uc001ofh.3_Missense_Mutation_p.A102V|RELA_uc001ofg.3_Missense_Mutation_p.A102V|RELA_uc021qlq.1_Missense_Mutation_p.A102V|RELA_uc009yqr.3_Missense_Mutation_p.A49V|RELA_uc001ofe.2_Missense_Mutation_p.A102V|RELA_uc009yqs.1_5'Flank NM_021975 NP_068810 Q04206 TF65_HUMAN Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA. 102 RHD. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|transcription factor complex NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GCAGAGCTCAGCCTCATAGAA 0.642000 68 12 0 0 0.001855 0 0 GRM2 2912 broad.mit.edu 37 3 51751697 51751697 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:51751697C>T uc010hlv.3 + 4 2648 c.2409C>T c.(2407-2409)tcC>tcT p.S803S GRM2_uc003dbo.4_Silent_p.S185S|GRM2_uc010hlu.3_Non-coding_Transcript NM_000839 NP_000830 Q14416 GRM2_HUMAN Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA. 803 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TCAGCGGCTCCGTGGTGCTTG 0.627000 35 8 0 0 0.003080 0 0 GPR156 165829 broad.mit.edu 37 3 119886817 119886817 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:119886817C>T uc011bjf.2 - 8 1887 c.1507G>A c.(1507-1509)Gac>Aac p.D503N GPR156_uc011bjg.2_Missense_Mutation_p.D499N NM_153002 NP_694547 Q8NFN8 GP156_HUMAN Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA. 503 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GGGACTTGGTCTCCTCTTTCT 0.527000 124 44 0 0 0.014410 0 0 C12orf12 196477 broad.mit.edu 37 12 91347766 91347766 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:91347766C>T uc001tbj.3 - 0 1188 c.754G>A c.(754-756)Ggc>Agc p.G252S NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 252 NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 TGCACAAAGCCATACAGAGTT 0.592000 284 64 0 0 0.014410 0 0 ZNF132 7691 broad.mit.edu 37 19 58945209 58945209 + Nonsense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:58945209C>T uc002qst.4 - 2 2003 c.1602G>A c.(1600-1602)tgG>tgA p.W534* NM_003433 NP_003424 P52740 ZN132_HUMAN Homo sapiens zinc finger protein 132 (ZNF132), mRNA. 534 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TGTGAATTCTCCAGTGCTGAA 0.498000 34 8 0 0 0.010729 0 0 TMF1 7110 broad.mit.edu 37 3 69088085 69088085 + Nonsense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:69088085G>A uc011bfx.2 - 6 2159 c.1912C>T c.(1912-1914)Caa>Taa p.Q638* TMF1_uc003dnn.3_Nonsense_Mutation_p.Q635* NM_007114 NP_009045 P82094 TMF1_HUMAN Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA. 635 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TCTTTCTCTTGGCGTTCTACC 0.368000 49 12 0 0 0.010729 0 0 ITGA10 8515 broad.mit.edu 37 1 145535786 145535786 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:145535786C>T uc001eoa.3 + 15 2050 c.1974C>T c.(1972-1974)gcC>gcT p.A658A ITGA10_uc010oyv.2_Silent_p.A527A|ITGA10_uc009wiw.3_Silent_p.A515A|ITGA10_uc010oyw.2_Silent_p.A603A NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 658 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCCACAGGCCATCAGTGTGG 0.577000 116 39 0 0 0.007835 0 0 PCNXL2 80003 broad.mit.edu 37 1 233225933 233225933 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:233225933G>A uc001hvl.2 - 22 4185 c.3950C>T c.(3949-3951)tCt>tTt p.S1317F PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1317 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AAGCATGGCAGAATCTGAGAA 0.323000 45 13 0 0 0.001855 0 0 MAP1A 4130 broad.mit.edu 37 15 43818368 43818368 + Missense_Mutation SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:43818368A>G uc001zrt.3 + 3 5164 c.4697A>G c.(4696-4698)gAa>gGa p.E1566G NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1566 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GAAGCCCTGGAACAAAACATT 0.458000 34 7 0 0 0.001984 0 0 CRHBP 1393 broad.mit.edu 37 5 76259220 76259220 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:76259220G>A uc003ker.3 + 5 1026 c.746G>A c.(745-747)gGa>gAa p.G249E NM_001882 NP_001873 P24387 CRHBP_HUMAN Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA. 249 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CTGCTGGGAGGAACTGGATTG 0.463000 397 88 0 0 0.014410 0 0 OR5M1 390168 broad.mit.edu 37 11 56380251 56380251 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:56380251G>A uc001nja.1 - 0 728 c.728C>T c.(727-729)tCc>tTc p.S243F OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G242C(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TGTCAGGTGGGAAGCACACGT 0.448000 58 17 0 0 0.014323 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423747 107423747 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:107423747C>T uc003ver.2 - 8 1233 c.1022G>A c.(1021-1023)gGa>gAa p.G341E SLC26A3_uc003ves.2_Missense_Mutation_p.G306E NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 341 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GAAGCAATCTCCTACGGTGTT 0.423000 36 10 0 0 0.008291 0 0 COL6A3 1293 broad.mit.edu 37 2 238287836 238287836 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:238287836G>A uc002vwl.2 - 5 2225 c.1940C>T c.(1939-1941)tCa>tTa p.S647L COL6A3_uc002vwo.2_Missense_Mutation_p.S441L|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Missense_Mutation_p.S441L|COL6A3_uc002vwr.3_Missense_Mutation_p.S240L|COL6A3_uc010znk.1_Intron NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 647 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.G646R(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AACGTTGGCTGATCCATCCAA 0.378000 36 9 0 0 0.010729 0 0 CRYGD 1421 broad.mit.edu 37 2 208989071 208989071 + Missense_Mutation SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:208989071A>G uc002vcn.4 - 1 133 c.17T>C c.(16-18)cTc>cCc p.L6P LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.L6P NM_006891 NP_008822 P07320 CRGD_HUMAN Homo sapiens crystallin, gamma D (CRYGD), mRNA. 6 Beta/gamma crystallin 'Greek key' 1. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GTCCTCGTAGAGGGTGATCTG 0.682000 16 6 0 0 0.001984 0 0 TTLL9 164395 broad.mit.edu 37 20 30530770 30530770 + Silent SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:30530770A>G uc010gdx.1 + 14 1519 c.1266A>G c.(1264-1266)aaA>aaG p.K422K TTLL9_uc002wwy.1_Non-coding_Transcript|TTLL9_uc002wwz.1_Non-coding_Transcript|TTLL9_uc002wxa.1_Non-coding_Transcript|TTLL9_uc002wxb.1_Non-coding_Transcript|TTLL9_uc010zto.1_Non-coding_Transcript|TTLL9_uc002wxc.2_Silent_p.K324K|TTLL9_uc010ztp.1_Non-coding_Transcript NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA. 422 protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ATCGGAAGAAACAACTGAGGC 0.572000 126 38 0 0 0.006230 0 0 GRHL1 29841 broad.mit.edu 37 2 10098918 10098918 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:10098918C>T uc002raa.3 + 2 382 c.211C>T c.(211-213)Cca>Tca p.P71S GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_5'UTR|GRHL1_uc010yjb.2_5'UTR|BC051708_uc002rac.3_5'Flank NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA. 71 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) ATATCAGGTTCCAAGAGAGAG 0.408000 52 18 0 0 0.008871 0 0 CLCNKA 1187 broad.mit.edu 37 1 16383395 16383395 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:16383395C>T uc001axx.4 + 19 2184 c.2048C>T c.(2047-2049)cCg>cTg p.P683L CLCNKA_uc021ogm.1_Missense_Mutation_p.P514L|CLCNKA_uc001axy.4_Missense_Mutation_p.P513L NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 683 CBS 2. P -> L (in dbSNP:rs12746751). excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CTGACAAATCCGCCAGCCCCA 0.572000 24 13 0 0 0.002450 0 0 GRIA1 2890 broad.mit.edu 37 5 153149862 153149862 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:153149862G>A uc011dcy.2 + 12 2214 c.2187G>A c.(2185-2187)gaG>gaA p.E729E GRIA1_uc003lva.4_Silent_p.E719E|GRIA1_uc003luy.4_Silent_p.E719E|GRIA1_uc003luz.4_Silent_p.E624E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.E639E|GRIA1_uc011dcx.2_Silent_p.E650E|GRIA1_uc011dcz.2_Silent_p.E729E NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 719 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R729W(1) NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACCTCCTGGAGTCCACCATGA 0.498000 20 7 0 0 0.001984 0 0 PSD4 23550 broad.mit.edu 37 2 113940401 113940401 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:113940401G>A uc002tjc.3 + 1 551 c.368G>A c.(367-369)aGg>aAg p.R123K PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.R122K|PSD4_uc002tjf.3_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 123 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCTGCCCAGAGGGAGCACAGG 0.617000 53 8 0 0 0.004482 0 0 ESRRB 2103 broad.mit.edu 37 14 76905728 76905728 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:76905728G>A uc001xsr.3 + 3 403 c.32G>A c.(31-33)aGc>aAc p.S11N ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.S11N NM_004452 NP_004443 A2VDJ2 A2VDJ2_HUMAN Homo sapiens estrogen-related receptor beta (ESRRB), mRNA. 11 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTGGGCTCCAGCTGCGGCTCC 0.667000 68 15 0 0 0.004007 0 0 ATN1 1822 broad.mit.edu 37 12 7050126 7050126 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:7050126C>T uc001qrw.1 + 7 3535 c.3298C>T c.(3298-3300)Cct>Tct p.P1100S ATN1_uc001qrx.1_Missense_Mutation_p.P1100S|C12orf57_uc009zfj.1_5'Flank NM_001007026 NP_001931 P54259 ATN1_HUMAN Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA. 1100 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TGGAACTCTCCCTAACCCCCT 0.577000 38 7 0 0 0.001984 0 0 MAP7 9053 broad.mit.edu 37 6 136693694 136693694 + Missense_Mutation SNP A C C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:136693694A>C uc011edg.2 - 7 1160 c.911T>G c.(910-912)cTc>cGc p.L304R MAP7_uc011edf.2_Missense_Mutation_p.L259R|MAP7_uc010kgu.3_Missense_Mutation_p.L296R|MAP7_uc011edh.2_Missense_Mutation_p.L259R|MAP7_uc010kgv.3_Missense_Mutation_p.L296R|MAP7_uc010kgs.3_Missense_Mutation_p.L128R|MAP7_uc011edi.2_Missense_Mutation_p.L128R|MAP7_uc010kgq.2_Missense_Mutation_p.L180R|MAP7_uc003qgz.3_Missense_Mutation_p.L274R|MAP7_uc003qha.2_Missense_Mutation_p.L237R|MAP7_uc010kgr.2_Missense_Mutation_p.L128R|MAP7_uc010kgt.2_Missense_Mutation_p.L296R|MAP7_uc003qhb.3_Non-coding_Transcript NM_001198609 NP_001185538 Q14244 MAP7_HUMAN Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA. 274 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGTTACAAAGAGTTTTGGTCG 0.527000 49 16 0 0 0.004990 0 0 PLG 5340 broad.mit.edu 37 6 161173248 161173248 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:161173248G>A uc003qtm.4 + 17 2339 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 743 Peptidase S1. 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) CCAATCCACCGAACTCTGTGC 0.488000 43 15 0 0 0.004007 0 0 RNF213 57674 broad.mit.edu 37 17 78262068 78262068 + Missense_Mutation SNP A T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:78262068A>T uc002jyh.2 + 4 1006 c.863A>T c.(862-864)cAg>cTg p.Q288L RNF213_uc002jyf.3_Missense_Mutation_p.Q239L|RNF213_uc021uen.1_Missense_Mutation_p.Q239L|RNF213_uc002jyg.1_5'UTR NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 239 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) GATGCTGCCCAGGAGCTCCTG 0.632000 52 20 0 0 0.010504 0 0 FAS 355 broad.mit.edu 37 10 90767523 90767523 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:90767523G>A uc001kfr.3 + 2 609 c.263G>A c.(262-264)gGg>gAg p.G88E FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Missense_Mutation_p.G88E|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Missense_Mutation_p.G88E|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Intron|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Missense_Mutation_p.G88E|FAS_uc009xtp.3_Non-coding_Transcript NM_000043 NP_000034 P25445 TNR6_HUMAN Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA. 88 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TGCCAAGAAGGGAAGGAGTAC 0.448000 21 7 0 0 0.004482 0 0 FIG4 9896 broad.mit.edu 37 6 110083360 110083360 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:110083360C>T uc003ptt.2 + 11 1553 c.1338C>T c.(1336-1338)ttC>ttT p.F446F FIG4_uc011eau.1_Silent_p.F169F NM_014845 NP_055660 Q92562 FIG4_HUMAN Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA. 446 SAC. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) AAACAGGTTTCTTTGTAAACC 0.353000 46 12 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9070973 9070973 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9070973C>T uc002mkp.3 - 2 16677 c.16473G>A c.(16471-16473)gaG>gaA p.E5491E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5493 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 ACGTGCTGCTCTCCCTCAGTC 0.483000 47 13 0 0 0.013537 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134471703 134471703 + Missense_Mutation SNP T A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:134471703T>A uc022bos.1 - 13 2326 c.2167A>T c.(2167-2169)Act>Tct p.T723S RAPGEF1_uc022bot.1_Missense_Mutation_p.T705S|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.T880S|RAPGEF1_uc022bov.1_Missense_Mutation_p.T710S NM_198679 NP_941372 Q13905 RPGF1_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA. 705 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome SH3 domain binding|guanyl-nucleotide exchange factor activity NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TCAGTCTCAGTAGCATGGACC 0.597000 29 10 0 0 0.010729 0 0 DNAJC16 23341 broad.mit.edu 37 1 15870913 15870913 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:15870913C>T uc001aws.3 + 4 714 c.594C>T c.(592-594)gtC>gtT p.V198V DNAJC16_uc001awr.1_Silent_p.V198V|DNAJC16_uc001awt.3_5'UTR NM_015291 NP_056106 Q9Y2G8 DJC16_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA. 198 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TTGGCGTGGTCCATGCTGGGT 0.468000 31 10 0 0 0.008291 0 0 CDCP1 64866 broad.mit.edu 37 3 45134979 45134979 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:45134979C>T uc003com.3 - 5 1552 c.1417G>A c.(1417-1419)Gag>Aag p.E473K NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 473 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CAGGGCTTCTCGTGTGTATGC 0.612000 36 17 0 0 0.004990 0 0 SIPA1 6494 broad.mit.edu 37 11 65408626 65408626 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65408626C>T uc001ofb.2 + 1 401 c.234C>T c.(232-234)gcC>gcT p.A78A SIPA1_uc010rom.1_Silent_p.A78A|SIPA1_uc001ofd.2_Silent_p.A78A NM_006747 NP_694985 Q96FS4 SIPA1_HUMAN Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA. 78 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 ACGAAGAGGCCAGCCGACCTG 0.716000 30 7 0 0 0.003080 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68115390 68115390 + Silent SNP A G G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:68115390A>G uc003xxo.2 - 35 5446 c.5056T>C c.(5056-5058)Tta>Cta p.L1686L ARFGEF1_uc003xxl.1_Silent_p.L1140L|ARFGEF1_uc003xxm.2_Silent_p.L89L|ARFGEF1_uc003xxn.2_Silent_p.L631L|ARFGEF1_uc003xxp.1_5'Flank NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 1686 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GACTCTAATAAGCAGTCCAGT 0.423000 39 34 0 0 0.003755 0 0 MUC16 94025 broad.mit.edu 37 19 9077538 9077538 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9077538C>T uc002mkp.3 - 2 10112 c.9908G>A c.(9907-9909)gGg>gAg p.G3303E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3304 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 CTGCCTGGTCCCTCCTGGAGT 0.527000 63 45 0 0 0.013114 0 0 ODZ4 26011 broad.mit.edu 37 11 78383149 78383149 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:78383149C>T uc001ozl.4 - 30 6185 c.5722G>A c.(5722-5724)Gac>Aac p.D1908N ODZ4_uc001ozk.4_Missense_Mutation_p.D133N NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1908 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 CCCGCCTGGTCGTATTCCATT 0.547000 35 6 0 0 0.001168 0 0 FPR2 2358 broad.mit.edu 37 19 52272419 52272419 + Missense_Mutation SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:52272419C>T uc002pxr.3 + 1 553 c.508C>T c.(508-510)Cca>Tca p.P170S FPR2_uc002pxs.4_Missense_Mutation_p.P170S|FPR2_uc010epf.3_Missense_Mutation_p.P170S|FPR2_uc021uyp.1_Missense_Mutation_p.P170S NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 170 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 AGTAACTATTCCAAATGGGGA 0.507000 54 20 0 0 0.014323 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140711008 140711008 + Missense_Mutation SNP G A A rs140226913 by1000genomes TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140711008G>A uc003lji.2 + 0 757 c.757G>A c.(757-759)Gaa>Aaa p.E253K PCDHGC5_uc011dan.2_Missense_Mutation_p.E253K NM_018912 NP_061735 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA. 253 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATGTCCCCGAAAACGTGCC 0.488000 46 11 0 0 0.008291 0 0 IDO1 3620 broad.mit.edu 37 8 39781071 39781071 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:39781071G>A uc003xnm.3 + 6 735 c.621G>A c.(619-621)ttG>ttA p.L207L NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 207 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CTTCTTGCTTGGAGAAAGCCC 0.423000 29 7 0 0 0.001984 0 0 HRNR 388697 broad.mit.edu 37 1 152193185 152193185 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:152193185G>A uc001ezt.1 - 2 996 c.920C>T c.(919-921)cCt>cTt p.P307L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 307 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACGTGGCTAGGAGACTGGCG 0.592000 181 74 0 0 0.014410 0 0 CACNG2 10369 broad.mit.edu 37 22 36983516 36983516 + Silent SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:36983516G>A uc003aps.2 - 1 360 c.291C>T c.(289-291)ttC>ttT p.F97F NM_006078 NP_006069 Q9Y698 CCG2_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA. 97 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 ACTCACGGAGGAAATATTCTG 0.512000 118 26 0 0 0.006320 0 0 PTK2B 2185 broad.mit.edu 37 8 27295362 27295362 + Silent SNP C T T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:27295362C>T uc003xfn.2 + 22 2416 c.1608C>T c.(1606-1608)gcC>gcT p.A536A PTK2B_uc022ate.1_Silent_p.A536A|PTK2B_uc003xfp.2_Silent_p.A536A|PTK2B_uc003xfq.2_Silent_p.A536A|PTK2B_uc003xfr.1_Silent_p.A282A NM_173174 NP_775268 Q14289 FAK2_HUMAN Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA. 536 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TATGCAAAGCCATGGCCTACC 0.597000 16 6 0 0 0.001984 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432756 67432756 + Splice_Site SNP C T T rs142113776 byFrequency TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:67432756C>T uc001omr.3 - 7 1145 c.706_splice c.e7+1 p.A236_splice ALDH3B2_uc001oms.3_Splice_Site_p.A236_splice|ALDH3B2_uc009ysa.1_Splice_Site_p.A236_splice NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 236 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CAGGACTCACCGATGTAGCGA 0.642000 59 19 0 0 0.008871 0 0 FCRL1 115350 broad.mit.edu 37 1 157767989 157767989 + Missense_Mutation SNP G A A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:157767989G>A uc001frg.3 - 7 1189 c.1076C>T c.(1075-1077)tCa>tTa p.S359L FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.S359L|FCRL1_uc001fri.3_Missense_Mutation_p.S320L|FCRL1_uc001frj.3_Non-coding_Transcript NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA. 359 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGGGTAGGTGAGTTGAGGTA 0.507000 61 10 0 0 0.010729 0 0 PLXND1 23129 broad.mit.edu 37 3 129289979 129289987 + In_Frame_Del DEL GAACCTGCT - - TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:129289979_129289987delGAACCTGCT uc003emx.2 - 17 3596_3604 c.3496_3504delAGCAGGTTC c.(3496-3504)agcaggttcdel p.SRF1166del NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN Homo sapiens plexin D1 (PLXND1), mRNA. 1166 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGTCCAGGCGGAACCTGCTGCCCCGCTGT 0.632 --- 154 --- --- 17 --- TSC1 7248 broad.mit.edu 37 9 135785946 135785957 + Splice_Site DEL GCTGGATCGCAC - - TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:135785946_135785957delGCTGGATCGCAC uc004cca.2 - 12 1497 c.1263_splice c.e12+1 p.K421_splice TSC1_uc004ccb.3_Splice_Site_p.K420_splice|TSC1_uc011mcq.1_Splice_Site_p.K370_splice|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_Splice_Site_p.K300_splice|TSC1_uc004ccc.1_In_Frame_Del_p.VRSS422del NM_000368 NP_000359 Q92574 TSC1_HUMAN Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA. 421 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly TSC1-TSC2 complex|cell cortex|lamellipodium|membrane chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGCAGACGAGCTGGATCGCACCTTCCTGGGG 0.547 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis --- 96 --- --- 13 ---