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 HS3ST4 9951 broad.mit.edu 37 16 26147182 26147182 + Nonsense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr16:26147182G>A ENST00000331351.5 + 2 1376 c.984G>A c.(982-984)tgG>tgA p.W328* HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 328 Substrate binding (By similarity). heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) ATGCTTCCTGGAGTGCCATTC 0.532000 45 186 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80408498 80408498 + Silent SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr5:80408498G>T ENST00000265080.4 + 14 1975 c.1908G>T c.(1906-1908)gtG>gtT p.V636V NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 636 N-terminal Ras-GEF. 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 transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCTGCAAAGTGCCCCAGATCC 0.478000 53 148 5.39261e-20 7.80999e-20 1 1 0 ODF2 4957 broad.mit.edu 37 9 131222921 131222921 + Silent SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr9:131222921G>A ENST00000303890.5 + 5 669 c.84G>A c.(82-84)ccG>ccA p.P28P ODF2_ENST00000434106.2_Intron|ODF2_ENST00000444119.2_Silent_p.P28P|ODF2_ENST00000351030.3_Silent_p.P28P|ODF2_ENST00000393533.2_Intron|ODF2_ENST00000535026.1_Silent_p.P28P|ODF2_ENST00000372791.3_Intron|ODF2_ENST00000372814.3_Intron|ODF2_ENST00000372796.4_Intron|ODF2_ENST00000546203.1_Intron|ODF2_ENST00000372807.5_Silent_p.P28P|ODF2_ENST00000448249.3_Silent_p.P28P NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 0 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AAAAACTCCCGAAACCATCAG 0.567000 10 33 0 0 1 0 0 PRKCD 5580 broad.mit.edu 37 3 53222866 53222866 + Missense_Mutation SNP G G T rs34971355 TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr3:53222866G>T ENST00000394729.2 + 15 1874 c.1546G>T c.(1546-1548)Gcc>Tcc p.A516S PRKCD_ENST00000330452.3_Missense_Mutation_p.A516S NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 516 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) TGACTATATCGCCCCTGAGGT 0.617000 9 36 0.000274275 0.000303146 1 1 0 TENM2 57451 broad.mit.edu 37 5 167675227 167675227 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr5:167675227G>A ENST00000519204.1 + 26 7038 c.6920G>A c.(6919-6921)cGt>cAt p.R2307H TENM2_ENST00000520394.1_Missense_Mutation_p.R2189H|TENM2_ENST00000545108.1_Missense_Mutation_p.R2427H|TENM2_ENST00000518659.1_Missense_Mutation_p.R2428H|TENM2_ENST00000403607.2_Missense_Mutation_p.R2252H teneurin transmembrane protein 2 TTCACTCAGCGTGATTATGAT 0.527000 19 69 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153036423 153036423 + Missense_Mutation SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:153036423C>A ENST00000538966.1 + 13 2480 c.2209C>A c.(2209-2211)Ctg>Atg p.L737M PLXNB3_ENST00000361971.5_Missense_Mutation_p.L714M|PLXNB3_ENST00000538282.1_Missense_Mutation_p.L324M|PLXNB3_ENST00000538543.1_Silent_p.A183A|PLXNB3_ENST00000538776.1_Missense_Mutation_p.L367M NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 714 axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) TCCCCAGGGCCTGCCTGCCTC 0.632000 10 94 4.68919e-08 6.45724e-08 1 1 0 ATP7A 538 broad.mit.edu 37 X 77264753 77264753 + Missense_Mutation SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:77264753C>A ENST00000341514.6 + 7 2017 c.1862C>A c.(1861-1863)aCa>aAa p.T621K ATP7A_ENST00000343533.5_Missense_Mutation_p.T621K|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 621 HMA 6. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATTATCCATACAATTGAAGTA 0.388000 11 253 1.61879e-10 2.26631e-10 1 1 0 YARS2 51067 broad.mit.edu 37 12 32908436 32908436 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr12:32908436G>A ENST00000324868.8 - 1 400 c.373C>T c.(373-375)Cgt>Tgt p.R125C NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 125 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) TCCTTGGTACGGCCGCTCGGG 0.682000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 20 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29663690 29663690 + Missense_Mutation SNP G G C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr17:29663690G>C ENST00000358273.4 + 42 6568 c.6185G>C c.(6184-6186)tGc>tCc p.C2062S NF1_ENST00000356175.3_Missense_Mutation_p.C2041S NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2062 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GACAAGACATGCTTATCTCCA 0.343000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 11 38 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132938685 132938685 + Silent SNP A A G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr6:132938685A>G ENST00000275191.2 - 1 632 c.525T>C c.(523-525)acT>acC p.T175T TAAR2_ENST00000367931.1_Silent_p.T220T|TAAR2_ENST00000537809.1_Silent_p.T175T NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 220 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) TAGACCCAGGAGTGAAGAAAC 0.428000 13 89 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 4 27 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123175476 123175476 + Nonsense_Mutation SNP A A T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr4:123175476A>T ENST00000264501.4 + 38 6422 c.6049A>T c.(6049-6051)Aga>Tga p.R2017* KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R2017*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R2017* Q2LD37 K1109_HUMAN KIAA1109 2017 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CACCAATGTGAGATCTCACAC 0.333000 9 49 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 5 37 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23557448 23557448 + Missense_Mutation SNP G G C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr19:23557448G>C ENST00000300619.7 - 2 354 c.149C>G c.(148-150)gCc>gGc p.A50G ZNF91_ENST00000397082.2_Missense_Mutation_p.A50G|ZNF91_ENST00000599743.1_Missense_Mutation_p.A50G NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 50 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ACCCAGGAAGGCCAGGTTTCT 0.353000 20 80 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr12:25398284C>G ENST00000311936.3 - 2 226 c.35G>C c.(34-36)gGt>gCt p.G12A KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). 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|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 15 0 0 1 0 0 SLC23A1 9963 broad.mit.edu 37 5 138714323 138714323 + Missense_Mutation SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr5:138714323G>T ENST00000353963.3 - 10 1174 c.1136C>A c.(1135-1137)aCg>aAg p.T379K SLC23A1_ENST00000348729.3_Missense_Mutation_p.T375K NM_152685.3 NP_689898.2 Q9UHI7 S23A1_HUMAN solute carrier family 23 (ascorbic acid transporter), member 1 375 brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CCCGTTGCCCGTGCCCAATAG 0.602000 6 6 0.0293803 0.0293803 1 1 0 DCST1 149095 broad.mit.edu 37 1 155014057 155014057 + Missense_Mutation SNP T T C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr1:155014057T>C ENST00000295542.1 + 7 812 c.716T>C c.(715-717)aTg>aCg p.M239T DCST1_ENST00000423025.2_Missense_Mutation_p.M214T|DCST1_ENST00000368419.2_Missense_Mutation_p.M239T|DCST1_ENST00000392480.1_Missense_Mutation_p.M239T NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 239 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACACAGAAGATGTATGAGCTG 0.617000 7 84 0 0 1 0 0 PSG1 5669 broad.mit.edu 37 19 43382077 43382077 + Missense_Mutation SNP A A T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr19:43382077A>T ENST00000244296.2 - 2 555 c.418T>A c.(418-420)Ttc>Atc p.F140I PSG1_ENST00000403380.3_Missense_Mutation_p.F140I|PSG1_ENST00000436291.2_Missense_Mutation_p.F140I|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Missense_Mutation_p.F140I|PSG1_ENST00000595124.1_Missense_Mutation_p.F140I|PSG1_ENST00000595356.1_Missense_Mutation_p.F140I NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) TGTAAGGTGAAGGTGAAACGT 0.527000 24 297 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106846103 106846103 + Missense_Mutation SNP C C T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:106846103C>T ENST00000276185.4 + 16 4933 c.4933C>T c.(4933-4935)Ccc>Tcc p.P1645S Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 1645 cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 TGTGGCCAGCCCCGAGGCCCG 0.647000 4 21 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21344733 21344733 + Missense_Mutation SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr22:21344733G>T ENST00000215739.8 + 8 1069 c.710G>T c.(709-711)cGg>cTg p.R237L LZTR1_ENST00000389355.3_Missense_Mutation_p.R218L|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 237 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GCTGTGTGCCGGGACAAGATG 0.577000 11 73 6.40141e-05 7.68169e-05 1 1 0 NELFA 7469 broad.mit.edu 37 4 1993410 1993410 + Silent SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr4:1993410G>A ENST00000382882.3 - 2 1393 c.276C>T c.(274-276)ctC>ctT p.L92L NELFA_ENST00000411638.1_Silent_p.L81L|NELFA_ENST00000542778.1_Intron NM_005663.4 NP_005654.3 negative elongation factor complex member A CGAGGCTGGCGAGCTGGATGA 0.607000 6 110 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102528961 102528961 + Missense_Mutation SNP A A T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:102528961A>T ENST00000372680.1 - 3 825 c.531T>A c.(529-531)gaT>gaA p.D177E NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 GGGCGAATGGATCCTGTACAT 0.498000 8 109 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285701 16285701 + Silent SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr17:16285701G>T ENST00000302182.3 + 2 872 c.480G>T c.(478-480)ctG>ctT p.L160L UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.L84L|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.L160L|UBB_ENST00000395839.1_Silent_p.L160L NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 160 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TGAAGACCCTGACCGGCAAGA 0.547000 9 86 0.000442599 0.000476645 1 1 0 SALL4 57167 broad.mit.edu 37 20 50400995 50400995 + Nonsense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr20:50400995G>A ENST00000217086.4 - 4 3082 c.2971C>T c.(2971-2973)Cag>Tag p.Q991* SALL4_ENST00000395997.3_Nonsense_Mutation_p.Q554*|SALL4_ENST00000371539.3_Nonsense_Mutation_p.Q214* NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 991 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCCCACTCTGGATCACAGAG 0.577000 18 60 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130502574 130502574 + Silent SNP C C T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr9:130502574C>T ENST00000314830.8 - 10 2276 c.2163G>A c.(2161-2163)aaG>aaA p.K721K SH2D3C_ENST00000373274.3_Silent_p.K561K|SH2D3C_ENST00000429553.1_Silent_p.K367K|SH2D3C_ENST00000420366.1_Silent_p.K563K|SH2D3C_ENST00000373277.4_Silent_p.K564K|SH2D3C_ENST00000373276.3_Silent_p.K653K NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 721 Ras-GEF. JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AAGGCTTGAGCTTCTTCTCGT 0.577000 10 58 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112164552 112164552 + Splice_Site SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr5:112164552G>T ENST00000457016.1 + 14 2006 c.e14-1 CTC-554D6.1_ENST00000520401.1_Splice_Site|APC_ENST00000257430.4_Splice_Site|APC_ENST00000508376.2_Splice_Site P25054 APC_HUMAN adenomatous polyposis coli canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TTAATTTGCAGGTTATTGCGA 0.308000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 15 32 1.52009e-12 2.1642e-12 1 1 0 CYB5R4 51167 broad.mit.edu 37 6 84629121 84629121 + Missense_Mutation SNP A A G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr6:84629121A>G ENST00000369681.4 + 7 652 c.512A>G c.(511-513)gAt>gGt p.D171G NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 171 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) TACAGCTATGATTGGTTCCAA 0.234000 7 19 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46008428 46008428 + Missense_Mutation SNP G G A rs138619849 by1000genomes TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr3:46008428G>A ENST00000296137.2 - 8 2603 c.2398C>T c.(2398-2400)Cgg>Tgg p.R800W FYCO1_ENST00000535325.1_Missense_Mutation_p.R800W NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 800 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) AGGGCTGCCCGCATCTTGGCC 0.637000 15 34 0 0 1 0 0 GAA 2548 broad.mit.edu 37 17 78081599 78081599 + Splice_Site SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr17:78081599C>A ENST00000302262.3 + 5 1078 c.858_splice c.e5-1 p.P287_splice GAA_ENST00000390015.3_Splice_Site_p.P287_splice NM_000152.3 NP_000143.2 P10253 LYAG_HUMAN glucosidase, alpha; acid 287 cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis lysosomal membrane carbohydrate binding|maltose alpha-glucosidase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) Acarbose(DB00284) CATGTCCCAGCCCGGTGCGAA 0.682000 4 22 0.00024832 0.000281877 1 1 0 HEPH 9843 broad.mit.edu 37 X 65480003 65480003 + Missense_Mutation SNP A A T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:65480003A>T ENST00000519389.1 + 19 3439 c.3260A>T c.(3259-3261)gAg>gTg p.E1087V HEPH_ENST00000441993.2_Missense_Mutation_p.E1036V|HEPH_ENST00000419594.1_Missense_Mutation_p.E844V|HEPH_ENST00000336279.5_Missense_Mutation_p.E766V|HEPH_ENST00000374727.3_Missense_Mutation_p.E1036V|HEPH_ENST00000343002.2_Missense_Mutation_p.E1033V Q9BQS7 HEPH_HUMAN hephaestin 1033 Plastocyanin-like 6. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GAGGTTGTGGAGATGGTGGCC 0.532000 8 55 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20903757 20903757 + Silent SNP T T C rs10841611 by1000genomes TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr12:20903757T>C ENST00000381552.1 + 14 2315 c.1947T>C c.(1945-1947)caT>caC p.H649H SLCO1C1_ENST00000545604.1_Silent_p.H649H|SLCO1C1_ENST00000266509.2_Intron|SLCO1C1_ENST00000545102.1_Silent_p.H531H|SLCO1C1_ENST00000540354.1_Intron Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity p.H649H(1) NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCGCATCTCATTGCTACAGCA 0.378000 5 54 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113158474 113158474 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr13:113158474G>A ENST00000261965.3 - 19 2365 c.2179C>T c.(2179-2181)Ctt>Ttt p.L727F TUBGCP3_ENST00000375669.3_Missense_Mutation_p.L727F NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 727 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) GAACATTCAAGCACCTGGGAA 0.463000 8 64 0 0 1 0 0 COX4I2 84701 broad.mit.edu 37 20 30227860 30227860 + Silent SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr20:30227860G>A ENST00000376075.3 + 3 282 c.207G>A c.(205-207)aaG>aaA p.K69K COX4I2_ENST00000490030.1_3'UTR NM_032609.2 NP_115998.2 Q96KJ9 COX42_HUMAN cytochrome c oxidase subunit IV isoform 2 (lung) 69 cellular respiration cytochrome-c oxidase activity breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1) 11 all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) AGAAGGAGAAGGGAAGCTGGA 0.587000 3 19 0 0 1 0 0 MAX 4149 broad.mit.edu 37 14 65560460 65560460 + Missense_Mutation SNP A A G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr14:65560460A>G ENST00000284165.6 - 3 285 c.137T>C c.(136-138)tTg>tCg p.L46S MAX_ENST00000341653.2_Missense_Mutation_p.L46S|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555932.1_Intron|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000556979.1_Missense_Mutation_p.L46S|MAX_ENST00000555419.1_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.L37S|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000555667.1_Missense_Mutation_p.L37S|MAX_ENST00000556443.1_Missense_Mutation_p.L37S|RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000358402.4_Missense_Mutation_p.L37S|MAX_ENST00000246163.2_Missense_Mutation_p.L46S|MAX_ENST00000358664.4_Missense_Mutation_p.L46S NM_145113.1 NP_660088.1 P61244 MAX_HUMAN MYC associated factor X 46 Helix-loop-helix motif. transcription from RNA polymerase II promoter cytoplasm|MLL1 complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 17 all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999) TGAGTCCCGCAAACTGTGAAA 0.478000 27 33 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106204054 106204054 + RNA SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr14:106204054G>T ENST00000390548.2 - 0 1244 CCCATGGCTGGTGTGTGGGGT 0.667000 9 7 0.000274275 0.000303146 1 1 0 ALAS2 212 broad.mit.edu 37 X 55052359 55052359 + Silent SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:55052359C>A ENST00000330807.5 - 2 212 c.75G>T c.(73-75)gtG>gtT p.V25V ALAS2_ENST00000396198.3_Silent_p.V49V|ALAS2_ENST00000335854.4_Silent_p.V25V NM_000032.4 NP_000023.2 P22557 HEM0_HUMAN aminolevulinate, delta-, synthase 2 25 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GAGTCTTAACCACCTTGCCTA 0.542000 4 48 0.00909568 0.00920527 1 1 0 IL17RD 54756 broad.mit.edu 37 3 57131937 57131937 + Missense_Mutation SNP C C G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr3:57131937C>G ENST00000296318.7 - 12 1882 c.1794G>C c.(1792-1794)gaG>gaC p.E598D IL17RD_ENST00000463523.1_Missense_Mutation_p.E454D|IL17RD_ENST00000427856.2_Missense_Mutation_p.E574D|IL17RD_ENST00000320057.5_Missense_Mutation_p.E454D NM_017563.3 NP_060033.3 Q8NFM7 I17RD_HUMAN interleukin 17 receptor D 598 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) AGAAGTCACTCTCAGGCCCTG 0.572000 5 26 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48204879 48204879 + Splice_Site SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr16:48204879C>A ENST00000394747.1 - 26 4048 c.e26-1 ABCC11_ENST00000394748.1_Splice_Site|ABCC11_ENST00000356608.2_Splice_Site|ABCC11_ENST00000353782.5_Splice_Site|ABCC11_ENST00000565329.1_Splice_Site NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TAGGTTGAATCTACCATATGA 0.458000 42 82 1.62957e-23 2.44436e-23 1 1 0 CLIP2 7461 broad.mit.edu 37 7 73770820 73770820 + Missense_Mutation SNP C C G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr7:73770820C>G ENST00000223398.6 + 5 1211 c.884C>G c.(883-885)cCa>cGa p.P295R CLIP2_ENST00000395060.1_Missense_Mutation_p.P295R|CLIP2_ENST00000361545.5_Missense_Mutation_p.P295R NM_003388.4 NP_003379.3 Q9UDT6 CLIP2_HUMAN CAP-GLY domain containing linker protein 2 295 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 TCTACCAGCCCAGCCAAGGCC 0.587000 11 69 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32560308 32560308 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr14:32560308G>A ENST00000345122.3 + 2 748 c.433G>A c.(433-435)Gaa>Aaa p.E145K ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.E145K|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.E145K|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.E145K NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 145 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ACAAGACTTTGAACAGAAGCA 0.368000 42 98 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7285552 7285552 + Missense_Mutation SNP A A T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr10:7285552A>T ENST00000361972.4 - 9 1178 c.1088T>A c.(1087-1089)cTt>cAt p.L363H SFMBT2_ENST00000397167.1_Missense_Mutation_p.L363H NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 363 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 TCCATTTTTAAGGCACCACTG 0.438000 14 35 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19757014 19757014 + Splice_Site SNP T T C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr19:19757014T>C ENST00000357324.6 - 23 3274 c.3248_splice c.e23+1 p.K1083_splice ATP13A1_ENST00000291503.5_Splice_Site_p.K965_splice NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 1083 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 CAGCACTTACTTCTCGGGGCT 0.577000 5 23 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102528946 102528946 + Silent SNP C C T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:102528946C>T ENST00000372680.1 - 3 840 c.546G>A c.(544-546)agG>agA p.R182R NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 CCCGTTGGCCCCTTGGGGCGA 0.488000 7 106 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43122183 43122183 + Missense_Mutation SNP T T C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr15:43122183T>C ENST00000267890.6 - 5 493 c.385A>G c.(385-387)Att>Gtt p.I129V TTBK2_ENST00000567274.1_Missense_Mutation_p.I129V|TTBK2_ENST00000567840.1_Missense_Mutation_p.I129V NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 129 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) ATGCTTTCAATAGACTCCAAA 0.463000 12 59 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281217 142281217 + Nonsense_Mutation SNP T T A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr3:142281217T>A ENST00000350721.4 - 4 1148 c.1027A>T c.(1027-1029)Aaa>Taa p.K343* ATR_ENST00000383101.3_Nonsense_Mutation_p.K343* NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 343 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 AAAGCTGCTTTTAGCAAATCA 0.378000 Other conserved DNA damage response genes 27 58 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56030701 56030701 + Missense_Mutation SNP T T C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr12:56030701T>C ENST00000309675.2 + 1 58 c.26T>C c.(25-27)cTg>cCg p.L9P NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 CATACTACACTGCCTGAATTC 0.502000 18 82 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102528960 102528960 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:102528960G>A ENST00000372680.1 - 3 826 c.532C>T c.(532-534)Cca>Tca p.P178S NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.P178S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 GGGGCGAATGGATCCTGTACA 0.502000 7 108 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77722939 77722939 + Missense_Mutation SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr14:77722939C>A ENST00000298351.4 + 24 2435 c.2291C>A c.(2290-2292)aCc>aAc p.T764N NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 764 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) GCCAGGCACACCTATGGCACC 0.607000 47 96 2.13384e-23 3.1446e-23 1 1 0 JAM3 83700 broad.mit.edu 37 11 134010583 134010583 + Silent SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr11:134010583G>T ENST00000299106.4 + 3 333 c.174G>T c.(172-174)tcG>tcT p.S58S JAM3_ENST00000441717.3_Silent_p.S58S|JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Silent_p.S103S Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 58 Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TTACGGATTCGCAGACAAGTG 0.443000 6 57 0.00116845 0.00122687 1 1 0 OR13C2 392376 broad.mit.edu 37 9 107367310 107367310 + Missense_Mutation SNP A A T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr9:107367310A>T ENST00000542196.1 - 1 641 c.599T>A c.(598-600)cTt>cAt p.L200H NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TGTGGCCACAAGCATGATGAA 0.403000 40 122 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54785035 54785035 + Missense_Mutation SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chrX:54785035C>A ENST00000218436.6 - 8 1501 c.1472G>T c.(1471-1473)tGg>tTg p.W491L NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 491 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity GAAAACGGCCCAAGGGGAGGC 0.622000 10 21 1.58986e-06 2.02346e-06 1 1 0 ERN1 2081 broad.mit.edu 37 17 62125218 62125218 + Splice_Site SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr17:62125218C>A ENST00000433197.2 - 19 2624 c.2529_splice c.e19+1 p.Q843_splice NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 843 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 ACGTCTCTACCTGGAAGAACT 0.418000 12 34 0.00010058 0.000118996 1 1 0 PHLDB2 90102 broad.mit.edu 37 3 111603771 111603771 + Nonsense_Mutation SNP C C T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr3:111603771C>T ENST00000431670.2 + 2 1258 c.847C>T c.(847-849)Cga>Tga p.R283* PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.R310*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.R283*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.R283* NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 283 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CAATTCCAAACGAACAAAACT 0.458000 10 40 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946468 144946468 + Silent SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr8:144946468G>A ENST00000525985.1 - 2 1025 c.954C>T c.(952-954)ctC>ctT p.L318L P58107 EPIPL_HUMAN epiplakin 1 318 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) GGGCCTCTAGGAGTGGCAGCG 0.682000 16 49 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167109 6167109 + Silent SNP C C T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr12:6167109C>T ENST00000261405.5 - 14 1889 c.1635G>A c.(1633-1635)cgG>cgA p.R545R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 545 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGTCCTCCACCCGGGGCTCCG 0.647000 16 63 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61068582 61068582 + Missense_Mutation SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr13:61068582G>T ENST00000196169.3 + 8 1240 c.452G>T c.(451-453)gGa>gTa p.G151V TDRD3_ENST00000535286.1_Missense_Mutation_p.G244V|TDRD3_ENST00000377881.2_Missense_Mutation_p.G151V|TDRD3_ENST00000377894.2_Missense_Mutation_p.G151V NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 151 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) AAGACATTTGGAGGAGGTGGT 0.358000 14 45 0.000566183 0.000602018 1 1 0 THAP8 199745 broad.mit.edu 37 19 36526358 36526358 + Missense_Mutation SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr19:36526358C>A ENST00000292894.1 - 4 1353 c.809G>T c.(808-810)cGg>cTg p.R270L AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Missense_Mutation_p.R125L NM_152658.2 NP_689871.1 Q8NA92 THAP8_HUMAN THAP domain containing 8 270 DNA binding|metal ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1) 8 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACTGGGGATCCGAGTGTCCAG 0.562000 22 53 1.28384e-07 1.71179e-07 1 1 0 SEZ6L 23544 broad.mit.edu 37 22 26701995 26701995 + Missense_Mutation SNP C C A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr22:26701995C>A ENST00000529632.2 + 6 1595 c.1399C>A c.(1399-1401)Cca>Aca p.P467T SEZ6L_ENST00000402979.1_Missense_Mutation_p.P240T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P467T|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P240T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.P467T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P467T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P467T NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 467 CUB 2. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CGTCCTCTCCCCAAGTTACCC 0.572000 4 44 0.00024832 0.000281877 1 1 0 ASTN1 460 broad.mit.edu 37 1 176915104 176915104 + Missense_Mutation SNP G G C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr1:176915104G>C ENST00000367654.2 - 13 2244 c.2231C>G c.(2230-2232)tCc>tGc p.S744C ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S736C|ASTN1_ENST00000424564.2_Missense_Mutation_p.S736C|ASTN1_ENST00000367657.3_Missense_Mutation_p.S736C O14525 ASTN1_HUMAN astrotactin 1 744 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACTTCCTTGGAATGGTTGTT 0.483000 15 128 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56481921 56481921 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr19:56481921G>A ENST00000291971.3 + 6 2464 c.2393G>A c.(2392-2394)tGc>tAc p.C798Y NLRP8_ENST00000590542.1_Missense_Mutation_p.C798Y NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 798 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGGAAGACTGCTTGGCCACC 0.463000 28 109 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79832926 79832926 + Silent SNP T T C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr4:79832926T>C ENST00000335016.5 + 16 3391 c.3225T>C c.(3223-3225)caT>caC p.H1075H PAQR3_ENST00000295462.3_Intron NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 1075 nucleus ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 AGCCCTTCCATTCTCCAGACC 0.537000 25 83 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125609313 125609313 + Missense_Mutation SNP C C G TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr12:125609313C>G ENST00000316519.6 + 11 1390 c.1184C>G c.(1183-1185)cCg>cGg p.P395R AACS_ENST00000545511.1_5'UTR|AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Missense_Mutation_p.P395R NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 395 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GCCATGAAGCCGGGTGAGTGT 0.517000 8 53 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228163524 228163524 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr2:228163524G>A ENST00000396578.3 + 43 4040 c.3878G>A c.(3877-3879)cGt>cAt p.R1293H COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1293 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCACCAGGTCGTCTGGTGAGT 0.378000 22 36 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21344734 21344734 + Silent SNP G G T TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr22:21344734G>T ENST00000215739.8 + 8 1070 c.711G>T c.(709-711)cgG>cgT p.R237R LZTR1_ENST00000389355.3_Silent_p.R218R|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 237 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTGTGTGCCGGGACAAGATGT 0.577000 11 77 6.40141e-05 7.68169e-05 1 1 0 GBF1 8729 broad.mit.edu 37 10 104139047 104139047 + Missense_Mutation SNP G G C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr10:104139047G>C ENST00000369983.3 + 34 4758 c.4498G>C c.(4498-4500)Gac>Cac p.D1500H NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1500 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CTAGTTGCTAGACCTGATGCA 0.582000 15 27 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730082 62730082 + Missense_Mutation SNP G G A TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr20:62730082G>A ENST00000349451.3 + 6 1455 c.1043G>A c.(1042-1044)cGc>cAc p.R348H OPRL1_ENST00000336866.2_Missense_Mutation_p.R348H|OPRL1_ENST00000355631.4_Missense_Mutation_p.R348H NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 348 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GTGTCTGACCGCGTGCGCAGC 0.637000 6 39 0 0 1 0 0 SETDB1 9869 broad.mit.edu 37 1 150915140 150915141 + Frame_Shift_Ins INS - - C TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr1:150915140_150915141insC ENST00000271640.5 + 6 839_840 c.649_650insC c.(649-651)cctfs p.P217fs SETDB1_ENST00000368963.1_Frame_Shift_Ins_p.P217fs|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.P217fs|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Frame_Shift_Ins_p.P217fs NM_001145415.1|NM_012432.3 NP_001138887.1|NP_036564.3 Q15047 SETB1_HUMAN SET domain, bifurcated 1 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) GCACAAAGGCACCCTTATTGCC 0.470 27 97 --- --- --- --- TRAPPC11 60684 broad.mit.edu 37 4 184601385 184601386 + Frame_Shift_Ins INS - - G rs146470172 TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr4:184601385_184601386insG ENST00000334690.6 + 10 1280_1281 c.1078_1079insG c.(1078-1080)gaafs p.E360fs TRAPPC11_ENST00000357207.4_Frame_Shift_Ins_p.E360fs NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 360 p.R360W(1) TGCCCAGGAGCGGAAACAGCTT 0.386 21 74 --- --- --- --- NRG2 9542 broad.mit.edu 37 5 139422565 139422567 + In_Frame_Del DEL GCT GCT - TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr5:139422565_139422567delGCT ENST00000541337.1 - 1 317_319 c.88_90delAGC c.(88-90)del p.S30del NRG2_ENST00000289422.7_In_Frame_Del_p.S30del|NRG2_ENST00000545385.1_In_Frame_Del_p.S30del|NRG2_ENST00000289409.4_In_Frame_Del_p.S30del|NRG2_ENST00000361474.1_In_Frame_Del_p.S30del|NRG2_ENST00000358522.3_In_Frame_Del_p.S30del|NRG2_ENST00000394770.1_In_Frame_Del_p.S30del NM_001184935.1 NP_001171864.1 O14511 NRG2_HUMAN neuregulin 2 30 Poly-Ser. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) tgctcctctcgctgctgctgctg 0.675 2 4 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 3 6 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545695 66545695 + RNA DEL A A - TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr9:66545695delA ENST00000445604.2 - 0 669 CTGTAAGAGGAAAAAAAAACA 0.373 3 6 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 5 10 --- --- --- --- CMTR2 55783 broad.mit.edu 37 16 71319052 71319054 + In_Frame_Del DEL CAC CAC - TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr16:71319052_71319054delCAC ENST00000338099.5 - 3 1106_1108 c.770_772delGTG c.(769-774)taa>t p.CE257del FTSJD1_ENST00000434935.2_In_Frame_Del_p.CE257del Q8IYT2 FTSJ1_HUMAN 257 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GTGACAACTTCACAGTAATGCAA 0.419 24 55 --- --- --- --- YBX2 51087 broad.mit.edu 37 17 7193656 7193661 + In_Frame_Del DEL GCCGTT GCCGTT - TCGA-50-8457-01A-11D-2323-08 TCGA-50-8457-10A-01D-2323-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b99fefb-dd56-4ec2-840d-d91cf4cd9857 619f4da7-84f4-4a67-be95-12b6d477e8a4 g.chr17:7193656_7193661delGCCGTT ENST00000007699.5 - 5 716_721 c.653_658delAACGGC c.(652-660)ccc>c p.QRP218del NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 218 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 CATCGTCGGGGCCGTTGCCCAGAGTC 0.680 28 105 --- --- --- ---