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 ZNF212 7988 broad.mit.edu 37 7 148951187 148951187 + Missense_Mutation SNP G G C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr7:148951187G>C ENST00000335870.2 + 5 1297 c.1169G>C c.(1168-1170)tGc>tCc p.C390S NM_012256.3 NP_036388.2 Q9UDV6 ZN212_HUMAN zinc finger protein 212 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CATCAGCGTTGCCACCTGCAG 0.602000 4 26 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 110 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348668 197348668 + RNA SNP C C G rs79940815 by1000genomes TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr3:197348668C>G ENST00000418868.1 - 0 591 NR_003266.2 ACTTGAGGCTCTGTCCACCAA 0.488000 6 122 0 0 1 0 0 SEPT1 1731 broad.mit.edu 37 16 30391351 30391351 + Silent SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr16:30391351G>T ENST00000321367.3 - 8 748 c.703C>A c.(703-705)Cgg>Agg p.R235R SEPT1_ENST00000605106.1_Silent_p.R193R|SEPT1_ENST00000571393.1_Silent_p.R188R NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 188 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) AACTGATCCCGGATCTCAGGG 0.483000 8 60 0.000157383 0.000171911 1 1 0 VWC2 375567 broad.mit.edu 37 7 49951718 49951718 + Missense_Mutation SNP G G C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr7:49951718G>C ENST00000340652.3 + 4 1471 c.915G>C c.(913-915)gaG>gaC p.E305D ZPBP_ENST00000491129.1_Intron NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 305 negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GTACTTATGAGGAAGGCACAT 0.498000 6 80 0 0 1 0 0 GP2 2813 broad.mit.edu 37 16 20337679 20337679 + Silent SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr16:20337679C>T ENST00000302555.5 - 2 224 c.75G>A c.(73-75)caG>caA p.Q25Q GP2_ENST00000381360.5_Silent_p.Q25Q|GP2_ENST00000381362.4_Silent_p.Q25Q|GP2_ENST00000341642.5_Silent_p.Q25Q P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 25 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CTGCAGATGCCTGGGTCAGAA 0.537000 8 53 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 58 147 0 0 1 0 0 TFAP2B 7021 broad.mit.edu 37 6 50805757 50805757 + Silent SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr6:50805757G>A ENST00000263046.4 + 6 1084 c.918G>A c.(916-918)gcG>gcA p.A306A TFAP2B_ENST00000393655.3_Silent_p.A297A Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 297 nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) ATTTACCCGCGGGCAGGCGCA 0.468000 17 111 0 0 1 0 0 C1orf52 148423 broad.mit.edu 37 1 85718325 85718325 + Missense_Mutation SNP T T C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr1:85718325T>C ENST00000471115.1 - 3 544 c.536A>G c.(535-537)aAg>aGg p.K179R C1orf52_ENST00000294661.4_5'UTR NM_198077.3 NP_932343.1 Q8N6N3 CA052_HUMAN chromosome 1 open reading frame 52 179 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1) 10 all cancers(265;0.0105)|Epithelial(280;0.0293) CTTTTTCTTCTTTGCTGGTTC 0.323000 4 32 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220805632 220805632 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr1:220805632C>T ENST00000402574.1 + 11 1696 c.694C>T c.(694-696)Ctt>Ttt p.L232F MARK1_ENST00000366917.4_Missense_Mutation_p.L367F|MARK1_ENST00000366918.4_Missense_Mutation_p.L345F NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 367 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TACTTATATTCTTCTAGGTAG 0.303000 8 145 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15608557 15608557 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr2:15608557C>T ENST00000281513.5 - 17 1851 c.1826G>A c.(1825-1827)gGc>gAc p.G609D NBAS_ENST00000441750.1_Missense_Mutation_p.G609D NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 609 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CAGGTCTGTGCCTTTTAATCC 0.408000 16 136 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140772467 140772467 + Silent SNP A A G TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr5:140772467A>G ENST00000398604.2 + 1 87 c.87A>G c.(85-87)ggA>ggG p.G29G PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGGGAGGGGACAGATTCGCT 0.617000 3 38 0 0 1 0 0 HTATSF1 27336 broad.mit.edu 37 X 135579988 135579988 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chrX:135579988C>T ENST00000535601.1 + 2 567 c.145C>T c.(145-147)Ccc>Tcc p.P49S HTATSF1_ENST00000218364.4_Missense_Mutation_p.P49S NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 49 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) GACGGACACTCCCTACGAGTG 0.642000 6 97 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528290 20528290 + Silent SNP G G T rs147167330 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr14:20528290G>T ENST00000315683.1 + 1 87 c.87G>T c.(85-87)gtG>gtT p.V29V NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V29V(2) central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCTTCTTTGTGACATTTTCCC 0.388000 9 204 7.48243e-07 9.00428e-07 1 1 0 SERPINI1 5274 broad.mit.edu 37 3 167512516 167512516 + Missense_Mutation SNP T T A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr3:167512516T>A ENST00000295777.5 + 5 1216 c.785T>A c.(784-786)gTt>gAt p.V262D SERPINI1_ENST00000446050.2_Missense_Mutation_p.V262D NM_005025.4 NP_005016.1 Q99574 NEUS_HUMAN serpin peptidase inhibitor, clade I (neuroserpin), member 1 262 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 AGACAGGAAGTTCCTCTTGCT 0.448000 6 55 0 0 1 0 0 SYNPO 11346 broad.mit.edu 37 5 150029662 150029662 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr5:150029662C>T ENST00000394243.1 + 3 2931 c.2557C>T c.(2557-2559)Cca>Tca p.P853S SYNPO_ENST00000522122.1_Missense_Mutation_p.P853S|SYNPO_ENST00000519664.1_Missense_Mutation_p.P609S|SYNPO_ENST00000307662.4_Missense_Mutation_p.P609S NM_001166208.1 NP_001159680.1 Q8N3V7 SYNPO_HUMAN synaptopodin 853 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGCTCTCCCTCCATCTCCTGC 0.687000 7 116 0 0 1 0 0 CIAO1 9391 broad.mit.edu 37 2 96933137 96933137 + Missense_Mutation SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr2:96933137G>T ENST00000488633.1 + 2 437 c.218G>T c.(217-219)gGt>gTt p.G73V CIAO1_ENST00000469320.1_3'UTR NM_004804.2 NP_004795.1 O76071 CIAO1_HUMAN cytosolic iron-sulfur protein assembly 1 73 chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1) 5 TCCCCCTGCGGTAATTACCTG 0.557000 27 136 3.73808e-20 4.65621e-20 1 1 0 NLRP5 126206 broad.mit.edu 37 19 56569755 56569755 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr19:56569755C>T ENST00000390649.3 + 14 3449 c.3449C>T c.(3448-3450)aCg>aTg p.T1150M NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1150 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCCTGTCCCACGTCTAACTTA 0.483000 3 29 0 0 1 0 0 NUMA1 4926 broad.mit.edu 37 11 71725388 71725388 + Missense_Mutation SNP T T A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr11:71725388T>A ENST00000393695.3 - 15 3492 c.3161A>T c.(3160-3162)cAt>cTt p.H1054L NUMA1_ENST00000358965.6_Missense_Mutation_p.H1054L|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1054 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 CGTCAGGGCATGAGCCAGTGC 0.602000 T RARA APL 6 123 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 3 10 0.184627 0.187265 1 1 0 HSF2 3298 broad.mit.edu 37 6 122753222 122753222 + Missense_Mutation SNP A A G TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr6:122753222A>G ENST00000452194.1 + 12 1601 c.1414A>G c.(1414-1416)Agc>Ggc p.S472G HSF2_ENST00000368455.4_Missense_Mutation_p.S490G NM_001135564.1 NP_001129036.1 Q03933 HSF2_HUMAN heat shock transcription factor 2 490 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TCTGGATAGCAGCCTAGACCC 0.448000 23 101 0 0 1 0 0 CBWD6 644019 broad.mit.edu 37 9 69247529 69247529 + Silent SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr9:69247529G>A ENST00000377457.5 - 5 588 c.483C>T c.(481-483)taC>taT p.Y161Y CBWD6_ENST00000377449.1_Silent_p.Y125Y|CBWD6_ENST00000382399.4_Intron NM_001085457.1 NP_001078926.1 Q4V339 CBWD6_HUMAN COBW domain containing 6 161 ATP binding p.Y161Y(1) lung(4) 4 TACCATCAAGGTAAATATCAC 0.299000 3 29 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7576853 7576853 + Splice_Site SNP C C T rs11575996 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr17:7576853C>T ENST00000420246.2 - 9 1125 c.993_splice c.e9+1 p.Q331_splice TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site_p.Q331_splice|TP53_ENST00000445888.2_Splice_Site_p.Q331_splice|TP53_ENST00000269305.4_Splice_Site_p.Q331_splice|TP53_ENST00000359597.4_Splice_Site_p.Q331_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 331 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.Q331H(7)|p.Q331P(2)|p.Q331fs*6(1)|p.I332fs*49(1)|p.?(1)|p.Q331Q(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GACTTAGTACCTGAAGGGTGA 0.453000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 72 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129776952 129776952 + Splice_Site SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr4:129776952G>A ENST00000226319.6 + 7 1144 c.864_splice c.e7+1 p.E288_splice PHF17_ENST00000452328.2_Splice_Site_p.E276_splice|PHF17_ENST00000512960.1_Splice_Site_p.E288_splice|PHF17_ENST00000511647.1_Splice_Site_p.E288_splice|PHF17_ENST00000413543.2_Splice_Site_p.E288_splice NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 288 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGATCCCTGAGGTACGTGTGG 0.498000 3 34 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7842942 7842942 + Silent SNP A A G TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr12:7842942A>G ENST00000329913.3 - 2 674 c.627T>C c.(625-627)gaT>gaC p.D209D NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 209 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CTGAGTCTCTATCTTCTTTGA 0.483000 10 81 0 0 1 0 0 GPR119 139760 broad.mit.edu 37 X 129519184 129519184 + Missense_Mutation SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chrX:129519184G>T ENST00000276218.2 - 1 327 c.238C>A c.(238-240)Ctg>Atg p.L80M NM_178471.2 NP_848566.1 Q8TDV5 GP119_HUMAN G protein-coupled receptor 119 80 integral to membrane|plasma membrane lipid binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1) 11 GCCATCCGCAGGCTGCACAGG 0.582000 20 196 1.2644e-06 1.49621e-06 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070125 141070125 + RNA SNP C C T rs10867114 by1000genomes TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr9:141070125C>T ENST00000503395.1 + 0 1205 CGCTCGGGGCCCTTCGGGCAG 0.672000 4 76 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69230479 69230479 + Missense_Mutation SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr12:69230479G>T ENST00000462284.1 + 10 1170 c.868G>T c.(868-870)Ggg>Tgg p.G290W MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.G235W|MDM2_ENST00000540827.1_Missense_Mutation_p.G89W|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.G89W|MDM2_ENST00000356290.4_Missense_Mutation_p.G114W|MDM2_ENST00000350057.5_Missense_Mutation_p.G259W|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.G114W|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.G229W|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000517852.1_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 284 ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GTATCAGGCAGGGGAGAGTGA 0.328000 A """sarcoma, glioma, colorectal, other""" 7 146 1.12685e-05 1.2501e-05 1 1 0 EML5 161436 broad.mit.edu 37 14 89128042 89128042 + Missense_Mutation SNP C C A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr14:89128042C>A ENST00000554922.1 - 25 3879 c.3631G>T c.(3631-3633)Ggg>Tgg p.G1211W EML5_ENST00000352093.5_Missense_Mutation_p.G1173W|EML5_ENST00000380664.5_Missense_Mutation_p.G1211W NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1211 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AAATCGTCCCCGGTAGCTAGA 0.363000 4 46 1 1 1 1 0 SLC12A7 10723 broad.mit.edu 37 5 1057693 1057693 + Silent SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr5:1057693C>T ENST00000264930.5 - 22 2962 c.2919G>A c.(2917-2919)acG>acA p.T973T NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 973 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCTTGTCTGGCGTAGGCGGCG 0.627000 13 198 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729175 196729175 + Missense_Mutation SNP G G C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr2:196729175G>C ENST00000312428.6 - 41 7304 c.7204C>G c.(7204-7206)Caa>Gaa p.Q2402E NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2402 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCTTTAATTTGAGTATCTGTA 0.383000 4 69 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1475147 1475147 + Missense_Mutation SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chrX:1475147G>T ENST00000331035.4 + 7 999 c.650G>T c.(649-651)tGt>tTt p.C217F IL3RA_ENST00000381469.2_Missense_Mutation_p.C139F NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 217 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACTGCAAAGTGTAATAAGACA 0.358000 7 122 1.58986e-06 1.82065e-06 1 1 0 PCNT 5116 broad.mit.edu 37 21 47851912 47851912 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr21:47851912C>T ENST00000359568.5 + 38 8641 c.8534C>T c.(8533-8535)tCg>tTg p.S2845L PCNT_ENST00000480896.1_Intron NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2845 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) ACACTGAAGTCGACGGTGGAA 0.562000 6 66 0 0 1 0 0 PISD 23761 broad.mit.edu 37 22 32015685 32015685 + Silent SNP C C A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr22:32015685C>A ENST00000382151.2 - 8 1460 c.1041G>T c.(1039-1041)gtG>gtT p.V347V PISD_ENST00000266095.5_Silent_p.V347V|PISD_ENST00000397500.1_3'UTR|PISD_ENST00000336566.4_Silent_p.V380V|PISD_ENST00000439502.2_Silent_p.V381V Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 381 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) CGAAGATGAGCACGATGGTGG 0.562000 5 61 0.000602214 0.000647837 1 1 0 AFF1 4299 broad.mit.edu 37 4 87968671 87968671 + Silent SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr4:87968671C>T ENST00000307808.6 + 3 1383 c.963C>T c.(961-963)acC>acT p.T321T AFF1_ENST00000395146.4_Silent_p.T328T|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 321 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) GACAGCAGACCTTTGAAAAAA 0.507000 13 151 0 0 1 0 0 TBX20 57057 broad.mit.edu 37 7 35288308 35288308 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr7:35288308C>T ENST00000408931.3 - 3 1052 c.526G>A c.(526-528)Gac>Aac p.D176N NM_001077653.2|NM_001166220.1 NP_001071121.1|NP_001159692.1 Q9UMR3 TBX20_HUMAN T-box 20 176 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 AACGGCGGGTCGGCCTTGCCA 0.532000 4 71 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858060 9858060 + Missense_Mutation SNP C C G TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr16:9858060C>G ENST00000396573.2 - 14 3650 c.3341G>C c.(3340-3342)aGa>aCa p.R1114T GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1114T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1114T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R1114T|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R957T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R1114T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1114 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATCTTGTCTCTAGGGGAGCT 0.483000 12 219 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48807229 48807229 + Silent SNP C C A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr19:48807229C>A ENST00000315396.7 - 7 1405 c.723G>T c.(721-723)ctG>ctT p.L241L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 241 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) CACGCTTCTCCAGGACATCGG 0.642000 14 109 1.3612e-06 1.58435e-06 1 1 0 FAM96B 51647 broad.mit.edu 37 16 66967955 66967955 + Missense_Mutation SNP T T A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr16:66967955T>A ENST00000422424.2 - 2 192 c.157A>T c.(157-159)Atc>Ttc p.I53F NM_016062.3 NP_057146.1 Q9Y3D0 MIP18_HUMAN family with sequence similarity 96, member B 53 chromosome segregation cytoplasm|MMXD complex|nucleus protein binding kidney(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198) GGGTCATTGATGGAGCGAATC 0.577000 4 26 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135427689 135427689 + Nonsense_Mutation SNP C C A rs142010518 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chrX:135427689C>A ENST00000394143.1 + 6 2115 c.1824C>A c.(1822-1824)taC>taA p.Y608* GPR112_ENST00000370652.1_Nonsense_Mutation_p.Y608*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Y545*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Y403*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.Y403* NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 608 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GACGAGTTTACACCCAGAATA 0.468000 6 75 1.06961e-07 1.30935e-07 1 1 0 VIPAS39 63894 broad.mit.edu 37 14 77917601 77917601 + Missense_Mutation SNP C C T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr14:77917601C>T ENST00000553888.1 - 4 782 c.272G>A c.(271-273)cGa>cAa p.R91Q VIPAS39_ENST00000557658.1_Missense_Mutation_p.R91Q|VIPAS39_ENST00000556412.1_Missense_Mutation_p.R117Q|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000343765.2_Missense_Mutation_p.R91Q|VIPAS39_ENST00000327028.4_Missense_Mutation_p.R91Q NM_001193314.1|NM_001193317.1|NM_022067.3 NP_001180243.1|NP_001180246.1|NP_071350.2 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog GAAGCTGTTTCGGCTCTTTAG 0.473000 13 195 0 0 1 0 0 ZNF221 7638 broad.mit.edu 37 19 44470451 44470451 + Missense_Mutation SNP G G C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr19:44470451G>C ENST00000251269.5 + 6 1125 c.797G>C c.(796-798)aGa>aCa p.R266T ZNF221_ENST00000587682.1_Missense_Mutation_p.R266T|ZNF221_ENST00000592350.1_Missense_Mutation_p.R266T NM_013359.2 NP_037491.2 Q9UK13 ZN221_HUMAN zinc finger protein 221 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) TTCCATAGTAGATCAGCACTT 0.403000 9 226 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 4 33 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 58 0 0 1 0 0 CTD-2090I13.1 0 broad.mit.edu 37 1 227618420 227618420 + RNA SNP G G C rs6426453 by1000genomes TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr1:227618420G>C ENST00000445817.1 + 0 1655 GGATGAGGTGGAACGTGTGAT 0.483000 3 38 0 0 1 0 0 RAET1K 646024 broad.mit.edu 37 6 150322211 150322211 + RNA SNP C C T rs9397541 by1000genomes TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr6:150322211C>T ENST00000533735.1 - 0 665 NR_024045.1 GATCCTCTGCCGTGTCCGTGG 0.498000 5 70 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114275390 114275390 + Silent SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr4:114275390G>A ENST00000357077.4 + 38 5669 c.5616G>A c.(5614-5616)tcG>tcA p.S1872S ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.S1839S|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1839 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CGTCATCATCGAGTAAAACTG 0.458000 21 190 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108681704 108681704 + Missense_Mutation SNP C C A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr1:108681704C>A ENST00000565488.1 - 9 1444 c.1225G>T c.(1225-1227)Gtg>Ttg p.V409L SLC25A24_ENST00000370041.4_Missense_Mutation_p.V390L NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 409 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) CGAGTTCTCACCAAAGCCAAT 0.473000 9 62 1.12685e-05 1.2501e-05 1 1 0 DLX5 1749 broad.mit.edu 37 7 96651595 96651595 + Nonsense_Mutation SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr7:96651595G>A ENST00000222598.4 - 2 915 c.442C>T c.(442-444)Cag>Tag p.Q148* DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Nonsense_Mutation_p.Q148* NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 148 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) GCGGCCAGCTGAAAGCTGGAA 0.498000 9 129 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48896748 48896748 + Missense_Mutation SNP C C A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chrX:48896748C>A ENST00000315869.7 - 3 677 c.418G>T c.(418-420)Gct>Tct p.A140S TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 140 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GGGAAGGGAGCCGCGGCGGCC 0.667000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 4 16 0.00909568 0.00935932 1 1 0 ARFGEF2 10564 broad.mit.edu 37 20 47587681 47587681 + Silent SNP G G A TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr20:47587681G>A ENST00000371917.4 + 10 1215 c.1215G>A c.(1213-1215)gtG>gtA p.V405V NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 405 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GTTCCAAGGTGGTTTCCCTGC 0.448000 9 68 0 0 1 0 0 RARA 5914 broad.mit.edu 37 17 38510648 38510648 + Missense_Mutation SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr17:38510648G>T ENST00000254066.5 + 7 1357 c.902G>T c.(901-903)gGc>gTc p.G301V RARA_ENST00000394086.3_Missense_Mutation_p.G317V|RARA_ENST00000425707.3_Missense_Mutation_p.G204V|RARA_ENST00000394081.3_Missense_Mutation_p.G296V|RARA_ENST00000394089.2_Missense_Mutation_p.G301V|RARA_ENST00000420042.1_3'UTR NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 301 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) CACAACGCTGGCTTCGGCCCC 0.652000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 7 68 0.00198382 0.00210226 1 1 0 IGHV1-3 28473 broad.mit.edu 37 14 106471356 106471356 + RNA SNP G G C TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr14:106471356G>C ENST00000390595.2 - 0 282 TGGAACTCCTGTGAATATTTT 0.537000 7 192 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56585912 56585912 + Silent SNP G G T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr18:56585912G>T ENST00000336078.4 + 4 1169 c.393G>T c.(391-393)ccG>ccT p.P131P ZNF532_ENST00000589288.1_Silent_p.P131P|ZNF532_ENST00000591808.1_Silent_p.P131P|ZNF532_ENST00000591230.1_Silent_p.P131P|ZNF532_ENST00000591083.1_Silent_p.P131P NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AGTTTAGCCCGATCTCCAGTG 0.498000 7 88 0.00448238 0.00468013 1 1 0 RP11-400N13.1 0 broad.mit.edu 37 1 222435118 222435119 + RNA INS - - T TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr1:222435118_222435119insT ENST00000416510.1 - 0 167 GCAATAATTTCTTTTTTTTTTA 0.302 2 4 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 4 6 --- --- --- --- AKAP2 11217 broad.mit.edu 37 9 112811016 112811033 + In_Frame_Del DEL CCCCCGGAGTCTCCTGGA CCCCCGGAGTCTCCTGGA - rs72207945 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr9:112811016_112811033delCCCCCGGAGTCTCCTGGA ENST00000374525.1 + 1 41_58 c.37_54delCCCCCGGAGTCTCCTGGA c.(37-54)del p.PPESPG19del AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000434623.2_In_Frame_Del_p.PPESPG19del|PALM2-AKAP2_ENST00000374530.3_Intron NM_001004065.4 NP_001004065.2 A kinase (PRKA) anchor protein 2 breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 33 CGCTCGCCTTCCCCCGGAGTCTCCTGGACCCCCGGAGT 0.789 2 4 --- --- --- --- LTB4R 1241 broad.mit.edu 37 14 24784977 24785003 + In_Frame_Del DEL GTGGAGTATCCTGAAAAGGATGCAGAA GTGGAGTATCCTGAAAAGGATGCAGAA - TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr14:24784977_24785003delGTGGAGTATCCTGAAAAGGATGCAGAA ENST00000396789.4 + 2 1845_1871 c.120_146delGTGGAGTATCCTGAAAAGGATGCAGAA c.(118-147)gtg>gt p.VWSILKRMQK40del LTB4R_ENST00000396782.2_In_Frame_Del_p.VWSILKRMQK40del|LTB4R_ENST00000345363.3_In_Frame_Del_p.VWSILKRMQK40del NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 40 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) GCTTTGTGGTGTGGAGTATCCTGAAAAGGATGCAGAAGCGCTCTGTC 0.586 11 204 --- --- --- --- LA16c-306E5.3 0 broad.mit.edu 37 16 3546140 3546141 + RNA INS - - A rs74546027 TCGA-MP-A4T9-01A-11D-A24P-08 TCGA-MP-A4T9-10A-01D-A24P-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6b0ebb2a-a75d-4b90-8e19-e2650becbef8 5a755819-743c-4b5f-96b4-877aecaca981 g.chr16:3546140_3546141insA ENST00000574423.2 + 0 111 gactccgtctcaaaaaaaaaaa 0.559 3 6 --- --- --- ---