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 SLC12A3 0 broad.mit.edu 37 16 56906569 56906569 + Splice_Site SNP G G A rs149172580 byFrequency TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr16:56906569G>A ENST00000438926.2 + 8 995 c.964_splice c.e8-1 p.A322_splice SLC12A3_ENST00000566786.1_Splice_Site_p.A321_splice|SLC12A3_ENST00000563236.1_Splice_Site_p.A322_splice|SLC12A3_ENST00000262502.5_Splice_Site_p.A321_splice NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 322 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) CTTTTCCAGCGGACATTTTTG 0.592000 18 35 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116413488 116413488 + Missense_Mutation SNP T T C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr12:116413488T>C ENST00000281928.3 - 24 5626 c.5420A>G c.(5419-5421)gAc>gGc p.D1807G NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1807 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TGTCTGCTTGTCTTTGATTGG 0.488000 6 61 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101777048 101777048 + Missense_Mutation SNP T T G TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr12:101777048T>G ENST00000261637.4 + 59 8060 c.7886T>G c.(7885-7887)aTt>aGt p.I2629S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2629 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTGTCCCGGATTGCAAAACTG 0.493000 5 63 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120677715 120677715 + Missense_Mutation SNP C C A TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr2:120677715C>A ENST00000263708.2 + 12 1670 c.899C>A c.(898-900)gCa>gAa p.A300E NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 300 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTGTGGAAAGCATGTGTAGAA 0.333000 63 78 2.53126e-37 2.86143e-37 1 1 0 WNT3A 89780 broad.mit.edu 37 1 228210473 228210473 + Silent SNP C C T TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr1:228210473C>T ENST00000284523.1 + 2 255 c.177C>T c.(175-177)taC>taT p.Y59Y WNT3A_ENST00000366753.2_Silent_p.Y59Y NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 59 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity p.Y59Y(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCAGGAACTACGTGGAGATCA 0.652000 14 28 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4510792 4510792 + Silent SNP G G A rs144380069 by1000genomes TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr19:4510792G>A ENST00000301286.3 - 3 3137 c.3138C>T c.(3136-3138)ccC>ccT p.P1046P NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1046 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 AGGAGGTGGCGGGGGTACTAG 0.637000 3 41 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48896807 48896807 + Missense_Mutation SNP A A C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chrX:48896807A>C ENST00000315869.7 - 3 618 c.359T>G c.(358-360)cTa>cGa p.L120R TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 120 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 GGCCCGCATTAGCTGCTGCCG 0.657000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 8 3 0 0 1 0 0 SEMA4B 10509 broad.mit.edu 37 15 90764978 90764978 + Missense_Mutation SNP G G A TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr15:90764978G>A ENST00000411539.2 + 7 1102 c.842G>A c.(841-843)cGc>cAc p.R281H SEMA4B_ENST00000379122.3_Missense_Mutation_p.R276H|SEMA4B_ENST00000332496.6_Missense_Mutation_p.R281H NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) ATTGTGTCCCGCATTGCCCGC 0.552000 OREG0023469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 30 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14492733 14492733 + Missense_Mutation SNP G G A TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr5:14492733G>A ENST00000344204.4 + 49 7714 c.7690G>A c.(7690-7692)Gca>Aca p.A2564T TRIO_ENST00000344135.5_Missense_Mutation_p.A63T|TRIO_ENST00000537187.1_Missense_Mutation_p.A2388T NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 2564 SH3 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CGATTACACGGCAGTGAAGGA 0.517000 13 31 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120677714 120677714 + Missense_Mutation SNP G G C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr2:120677714G>C ENST00000263708.2 + 12 1669 c.898G>C c.(898-900)Gca>Cca p.A300P NM_002830.3 NP_002821.1 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) 300 FERM. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) TTTGTGGAAAGCATGTGTAGA 0.333000 64 77 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78212618 78212618 + RNA SNP A A G TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr15:78212618A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TGTAACCGCCACTGGAGGACC 0.562000 3 35 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 49 76 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96521777 96521777 + Missense_Mutation SNP T T C rs77768218 TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr2:96521777T>C ENST00000456556.1 - 63 4316 c.4232A>G c.(4231-4233)cAt>cGt p.H1411R ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R ankyrin repeat domain 36C p.H662R(6)|p.H1411R(3) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 AAGGTCTTCATGCTTTCTTTT 0.383000 3 29 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 601310 601310 + Missense_Mutation SNP T T C TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr16:601310T>C ENST00000219611.2 + 8 2438 c.2075T>C c.(2074-2076)aTg>aCg p.M692T LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 AGGTTCCTCATGGGTGCCTCC 0.682000 14 24 0 0 1 0 0 BDNF-AS 0 broad.mit.edu 37 11 27528435 27528435 + RNA SNP C C T TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr11:27528435C>T ENST00000499008.3 + 0 37 BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000500662.2_RNA NR_002832.2 TGTGTCGCCGCGGCCATCAGG 0.652000 6 12 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47572495 47572495 + Missense_Mutation SNP C C A TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr19:47572495C>A ENST00000253048.5 - 14 2289 c.2252G>T c.(2251-2253)cGg>cTg p.R751L ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 751 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGGCTTCGGCCGGCCTGGGGG 0.677000 11 17 7.03913e-09 7.62572e-09 1 1 0 RUSC1 23623 broad.mit.edu 37 1 155300201 155300201 + Missense_Mutation SNP C C T TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr1:155300201C>T ENST00000368352.5 + 10 2699 c.2548C>T c.(2548-2550)Cgg>Tgg p.R850W RUSC1_ENST00000368347.4_Missense_Mutation_p.R440W|RUSC1_ENST00000368354.3_Missense_Mutation_p.R744W|RUSC1_ENST00000292254.4_Missense_Mutation_p.R381W|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.R381W NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 850 SH3. cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CAGGGCAGTGCGGGCTCTCTG 0.617000 3 38 0 0 1 0 0 RP11-46A10.5 0 broad.mit.edu 37 1 180934580 180934580 + RNA DEL A A - TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr1:180934580delA ENST00000358073.2 - 0 365 tatatgaaccaaaaaaaATTT 0.468 2 4 --- --- --- --- HLA-V 0 broad.mit.edu 37 6 29761783 29761784 + RNA INS - - G TCGA-EL-A3ZT-01A-12D-A23M-08 TCGA-EL-A3ZT-11A-13D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 61a33169-6990-498f-b8fa-f978c4c6de35 fc947e09-bbcf-4555-84c3-6e3fa8b5256b g.chr6:29761783_29761784insG ENST00000457107.1 + 0 1009_1010 ggattggtgcaaagccctgctt 0.550 3 6 --- --- --- ---