Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut EPPK1 83481 broad.mit.edu 37 8 144940615 144940615 + Silent SNP G G A TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr8:144940615G>A ENST00000525985.1 - 2 6878 c.6807C>T c.(6805-6807)acC>acT p.T2269T P58107 EPIPL_HUMAN epiplakin 1 2269 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGACGAAGCCGGTGGCCGCCT 0.716000 4 39 0 0 0.009096 0 0 TGFBR1 7046 broad.mit.edu 37 9 101908841 101908841 + Missense_Mutation SNP A A G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr9:101908841A>G ENST00000374994.4 + 7 1322 c.1205A>G c.(1204-1206)tAt>tGt p.Y402C TGFBR1_ENST00000552516.1_Missense_Mutation_p.Y406C|TGFBR1_ENST00000550253.1_Missense_Mutation_p.Y333C|TGFBR1_ENST00000374990.2_Missense_Mutation_p.Y325C NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 402 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) GCTGACATCTATGCAATGGGC 0.398000 4 310 0 0 0.009096 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962666 41962666 + RNA SNP T T G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr9:41962666T>G ENST00000454645.1 - 0 838 NR_003670.1 CCTCCGTTGTTTGTCCATTTA 0.358000 3 23 0 0 0.038147 0 0 PKD1L2 114780 broad.mit.edu 37 16 81232604 81232604 + Silent SNP G G A TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr16:81232604G>A ENST00000599697.1 - 7 1205 c.1206C>T c.(1204-1206)ggC>ggT p.G402G PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 402 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 ACGGTAGCGAGCCCTTTTGGG 0.532000 38 56 0 0 0.080422 0 0 ZNF761 388561 broad.mit.edu 37 19 53945909 53945909 + RNA SNP T T C rs28727441 by1000genomes TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr19:53945909T>C ENST00000454407.1 + 0 55 TPM3P9_ENST00000424846.3_RNA Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) ACCCTGACTCTGCCTGAGGCC 0.562000 4 42 0 0 0.029380 0 0 VPS52 6293 broad.mit.edu 37 6 33232649 33232649 + Missense_Mutation SNP C C T TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr6:33232649C>T ENST00000445902.2 - 13 1528 c.1310G>A c.(1309-1311)tGc>tAc p.C437Y VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.C312Y NM_022553.4 NP_072047.4 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 homolog (S. cerevisiae) 437 protein transport endosome membrane|Golgi apparatus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 GGCATCGTAGCAGTCAGCTAG 0.438000 11 212 0 0 0.069234 0 0 CANX 821 broad.mit.edu 37 5 179150714 179150714 + Missense_Mutation SNP G G T TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr5:179150714G>T ENST00000247461.4 + 12 1652 c.1452G>T c.(1450-1452)tgG>tgT p.W484C CANX_ENST00000512607.2_Missense_Mutation_p.W376C|CANX_ENST00000452673.2_Missense_Mutation_p.W484C|CANX_ENST00000504734.1_Missense_Mutation_p.W484C|CANX_ENST00000415618.2_Missense_Mutation_p.W519C NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 484 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTGGCTGTGGGTAGTCTATA 0.458000 32 80 5.90632e-09 7.59384e-09 0.050027 1 0 OR7G3 390883 broad.mit.edu 37 19 9236922 9236922 + Silent SNP A A G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr19:9236922A>G ENST00000305444.2 - 1 704 c.705T>C c.(703-705)taT>taC p.Y235Y NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 AAAAAGCTTTATACTTTCCAC 0.448000 27 140 0 0 0.037714 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 25 43 0 0 0.108266 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203818917 203818917 + Missense_Mutation SNP C C G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr1:203818917C>G ENST00000545588.1 + 14 5529 c.1702C>G c.(1702-1704)Cag>Gag p.Q568E ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q568E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q568E NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 568 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GAAGCACATGCAGAAACAGCA 0.463000 74 104 0 0 0.048971 0 0 SCN5A 6331 broad.mit.edu 37 3 38651439 38651439 + Silent SNP C C T TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr3:38651439C>T ENST00000413689.1 - 7 913 c.720G>A c.(718-720)gtG>gtA p.V240V SCN5A_ENST00000414099.2_Silent_p.V240V|SCN5A_ENST00000455624.2_Silent_p.V240V|SCN5A_ENST00000425664.1_Silent_p.V240V|SCN5A_ENST00000451551.2_Silent_p.V240V|SCN5A_ENST00000333535.4_Silent_p.V240V|SCN5A_ENST00000450102.2_Silent_p.V240V|SCN5A_ENST00000449557.2_Silent_p.V240V|SCN5A_ENST00000443581.1_Silent_p.V240V|SCN5A_ENST00000423572.2_Silent_p.V240V NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 240 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCAGGGCCCCCACGATGGTCT 0.617000 17 54 0 0 0.028581 0 0 KIAA0907 22889 broad.mit.edu 37 1 155887393 155887393 + Missense_Mutation SNP T T G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr1:155887393T>G ENST00000368320.3 - 11 1362 c.1337A>C c.(1336-1338)cAg>cCg p.Q446P KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q446P Q7Z7F0 K0907_HUMAN KIAA0907 446 Pro-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) gggctggggctggggctgggg 0.567000 4 14 0 0 0.009096 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128956351 128956351 + Missense_Mutation SNP G G C TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr5:128956351G>C ENST00000274487.4 + 9 1646 c.1501G>C c.(1501-1503)Gat>Cat p.D501H CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 501 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) ATCGTGTGCTGATGGTCTTCA 0.358000 8 111 0 0 0.038147 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520516 33520516 + Missense_Mutation SNP C C T TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr17:33520516C>T ENST00000297307.5 - 1 896 c.811G>A c.(811-813)Ggc>Agc p.G271S NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 271 integral to membrane ACCGCATAGCCCACACATGTG 0.587000 4 137 0 0 0.009096 0 0 SLIT2 9353 broad.mit.edu 37 4 20555525 20555525 + Missense_Mutation SNP G G C TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr4:20555525G>C ENST00000504154.1 + 26 2911 c.2659G>C c.(2659-2661)Gct>Cct p.A887P SLIT2_ENST00000503823.1_Missense_Mutation_p.A879P|SLIT2_ENST00000503837.1_Missense_Mutation_p.A883P|SLIT2_ENST00000273739.5_Missense_Mutation_p.A891P NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 887 LRRCT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGCTCGTTGTGCTGGTCCTGG 0.408000 4 94 0 0 0.009096 0 0 MYO9A 4649 broad.mit.edu 37 15 72190581 72190581 + Missense_Mutation SNP A A T TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr15:72190581A>T ENST00000356056.5 - 25 4735 c.4263T>A c.(4261-4263)ttT>ttA p.F1421L MYO9A_ENST00000444904.1_Missense_Mutation_p.F1402L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1421L|MYO9A_ENST00000566885.1_Missense_Mutation_p.F1041L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1421 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GGGGGATATAAAAAAAAGTAG 0.398000 35 39 0 0 0.064281 0 0 CACNB1 782 broad.mit.edu 37 17 37333711 37333711 + Silent SNP A A G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr17:37333711A>G ENST00000394303.3 - 13 1431 c.1224T>C c.(1222-1224)taT>taC p.Y408Y RP5-906A24.2_ENST00000579256.1_RNA|CACNB1_ENST00000394310.3_Silent_p.Y408Y|CACNB1_ENST00000344140.5_Silent_p.Y453Y NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 408 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) TGGCCTTCCAATAGGCTTCCA 0.612000 11 17 0 0 0.093190 0 0 MBD5 0 broad.mit.edu 37 2 149240876 149240876 + Missense_Mutation SNP T T C TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr2:149240876T>C ENST00000407073.1 + 10 3713 c.2716T>C c.(2716-2718)Tca>Cca p.S906P MBD5_ENST00000404807.1_Missense_Mutation_p.S906P NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 906 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) CAACAGCACTTCAAACAACCA 0.483000 3 177 0 0 0.004672 0 0 MMP3 4314 broad.mit.edu 37 11 102711322 102711322 + Missense_Mutation SNP T T A TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr11:102711322T>A ENST00000299855.5 - 5 884 c.628A>T c.(628-630)Acc>Tcc p.T210S NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 210 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AATAAATTGGTCCCTATTTAA 0.388000 18 48 0 0 0.038395 0 0 CCDC170 80129 broad.mit.edu 37 6 151914317 151914317 + Missense_Mutation SNP C C T TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr6:151914317C>T ENST00000367290.5 + 8 1458 c.1369C>T c.(1369-1371)Cgg>Tgg p.R457W CCDC170_ENST00000239374.7_Missense_Mutation_p.R457W Q8IYT3 CF097_HUMAN coiled-coil domain containing 170 457 p.R457W(1) CTTTGACATGCGGCTGGACGT 0.443000 7 69 0 0 0.038147 0 0 SUPT20H 55578 broad.mit.edu 37 13 37596275 37596275 + Nonsense_Mutation SNP G G A TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr13:37596275G>A ENST00000475892.1 - 20 1954 c.1771C>T c.(1771-1773)Cag>Tag p.Q591* SUPT20H_ENST00000464744.1_Intron|SUPT20H_ENST00000360252.4_Intron|SUPT20H_ENST00000350612.6_Intron|SUPT20H_ENST00000356185.3_Intron NM_001278480.1 NP_001265409.1 suppressor of Ty 20 homolog (S. cerevisiae) GGCATTGCCTGGCTCAGAGAC 0.517000 18 26 0 0 0.038395 0 0 HLA-DQB2 3120 broad.mit.edu 37 6 32726818 32726818 + Missense_Mutation SNP G G C rs34554556 TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr6:32726818G>C ENST00000435145.2 - 3 516 c.455C>G c.(454-456)gCc>gGc p.A152G HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.A152G|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.A152G Q5SR06 Q5SR06_HUMAN major histocompatibility complex, class II, DQ beta 2 152 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response integral to membrane|MHC class II protein complex endometrium(1)|kidney(1)|lung(1)|prostate(2) 5 TTTGATCTGGGCTGGATAGAA 0.567000 3 65 0 0 0.004672 0 0 PPL 5493 broad.mit.edu 37 16 4934851 4934851 + Missense_Mutation SNP T T C TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr16:4934851T>C ENST00000345988.2 - 22 3894 c.3805A>G c.(3805-3807)Atc>Gtc p.I1269V PPL_ENST00000590782.2_Missense_Mutation_p.I1267V NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 1269 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 AGCTGGTAGATCTCTAAATCA 0.507000 10 168 0 0 0.069234 0 0 ALS2CL 259173 broad.mit.edu 37 3 46725278 46725278 + Missense_Mutation SNP C C G TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr3:46725278C>G ENST00000318962.4 - 9 989 c.906G>C c.(904-906)caG>caC p.Q302H ALS2CL_ENST00000415953.1_Missense_Mutation_p.Q302H NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 302 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) TCACCTGGCCCTGGGAGTCCT 0.602000 11 203 0 0 0.093190 0 0 ZNF503 84858 broad.mit.edu 37 10 77158996 77159007 + In_Frame_Del DEL GGCCGTTAGCGA GGCCGTTAGCGA - TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr10:77158996_77159007delGGCCGTTAGCGA ENST00000372524.4 - 2 1927_1938 c.1441_1452delTCGCTAACGGCC c.(1441-1452)del p.SLTA481del ZNF503_ENST00000535216.1_In_Frame_Del_p.SLTA481del|RP11-399K21.11_ENST00000418818.2_lincRNA NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 481 Ala-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) CAGCCGCGGCGGCCGTTAGCGAGGAGTGCACA 0.684 11 19 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546506 11546508 + In_Frame_Del DEL TTG TTG - TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr12:11546506_11546508delTTG ENST00000389362.4 - 3 539_541 c.504_506delCAA c.(502-507)aag>aa p.NK168del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) ACTTCGGGACTTGTTGTCTCCTT 0.596 9 971 --- --- --- --- RP11-314D7.4 0 broad.mit.edu 37 12 74151336 74151337 + RNA INS - - GAAG rs143357657 by1000genomes TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr12:74151336_74151337insGAAG ENST00000549058.1 - 0 97 GAGTGAGTTATgaaggaaggaa 0.446 2 4 --- --- --- --- RRN3P2 0 broad.mit.edu 37 16 29113498 29113498 + RNA DEL T T - rs11366120 TCGA-DJ-A1QQ-01A-11D-A14W-08 TCGA-DJ-A1QQ-10A-01D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx a54ee9b6-3aa0-4fe0-a688-45253b19a04c 9ea5111c-09c3-4c4a-ba2c-6adf77f634ee g.chr16:29113498delT ENST00000564580.1 + 0 1360 AGGAGGTGGAttttttttttc 0.542 3 4 --- --- --- ---