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 DMRTB1 63948 broad.mit.edu 37 1 53927304 53927304 + Missense_Mutation SNP C C A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:53927304C>A ENST00000371445.3 + 2 791 c.736C>A c.(736-738)Caa>Aaa p.Q246K DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 246 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CAGCCAGTACCAAGGCGGAGG 0.662000 19 20 1.01871e-10 5.98493e-10 0.00121646 1 0 ITGA8 8516 broad.mit.edu 37 10 15688984 15688984 + Silent SNP T T C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr10:15688984T>C ENST00000378076.3 - 12 1421 c.1068A>G c.(1066-1068)gaA>gaG p.E356E NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 356 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TTTGCCCTACTTCTCTGGGGT 0.502000 8 60 0 0 0.00307968 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102471238 102471238 + Missense_Mutation SNP C C A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr14:102471238C>A ENST00000360184.4 + 25 5353 c.5189C>A c.(5188-5190)gCa>gAa p.A1730E NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1730 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 TTTGGTAAAGCAACTTCAATT 0.418000 27 35 1.32003e-05 6.89349e-05 0.000878237 1 0 C1orf146 388649 broad.mit.edu 37 1 92711147 92711147 + Silent SNP T T G TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:92711147T>G ENST00000370373.2 + 7 746 c.282T>G c.(280-282)gcT>gcG p.A94A C1orf146_ENST00000370375.3_Silent_p.A153A Q5VVC0 CA146_HUMAN chromosome 1 open reading frame 146 153 breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) TGATAACAGCTAAAGCTTACA 0.328000 23 38 0 0 0.00229938 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140182 69140182 + Missense_Mutation SNP C C T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr12:69140182C>T ENST00000398004.2 + 1 297 c.25C>T c.(25-27)Cgg>Tgg p.R9W NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 9 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) GGACCGAGTGCGGGGCCACTG 0.632000 13 12 0 0 0.00244969 0 0 EDEM3 80267 broad.mit.edu 37 1 184671950 184671950 + Missense_Mutation SNP T T C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:184671950T>C ENST00000318130.8 - 19 2650 c.2384A>G c.(2383-2385)gAt>gGt p.D795G EDEM3_ENST00000466392.1_5'UTR|EDEM3_ENST00000367512.3_Missense_Mutation_p.D752G NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 795 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CTTACCTCGATCTTTTGCTTT 0.373000 16 34 0 0 0.00400662 0 0 ADAR 103 broad.mit.edu 37 1 154574423 154574423 + Missense_Mutation SNP C C T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr1:154574423C>T ENST00000368474.4 - 2 894 c.695G>A c.(694-696)aGa>aAa p.R232K ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.R275K NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 232 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TGTGGAGTTTCTGTCTTCCGG 0.527000 32 86 0 0 0.00209593 0 0 FOXR2 139628 broad.mit.edu 37 X 55650232 55650232 + Missense_Mutation SNP T T A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chrX:55650232T>A ENST00000339140.3 + 1 400 c.88T>A c.(88-90)Tta>Ata p.L30I NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 30 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 GAGGAATGAGTTATTTCTGCC 0.468000 27 56 0 0 0.00209593 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 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 23 36 0 0 0.00332997 0 0 IGHV1-46 0 broad.mit.edu 37 14 106967198 106967198 + RNA SNP C C T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr14:106967198C>T ENST00000390622.2 - 0 505 TTGATTATTCCCATCCACTCA 0.547000 34 90 0 0 0.0024448 0 0 KRTCAP3 200634 broad.mit.edu 37 2 27666263 27666263 + Splice_Site SNP A A C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr2:27666263A>C ENST00000543753.1 + 5 527 c.e5-1 KRTCAP3_ENST00000407293.1_Splice_Site|KRTCAP3_ENST00000288873.3_Splice_Site NM_001168364.1 NP_001161836.1 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) CTTGCTTTTCAGGATACAGCC 0.517000 48 74 0 0 0.00361006 0 0 IL7R 3575 broad.mit.edu 37 5 35874644 35874644 + Splice_Site SNP G G T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr5:35874644G>T ENST00000303115.3 + 6 929 c.800_splice c.e6+1 p.R267_splice IL7R_ENST00000506850.1_Intron|IL7R_ENST00000343305.4_Intron NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 267 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) TGGAAAAAAAGGTGACCTTCT 0.423000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 33 51 5.09552e-08 2.87387e-07 0.00209593 1 0 AC093642.5 0 broad.mit.edu 37 2 243056818 243056818 + RNA SNP C C T rs140719525 by1000genomes TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr2:243056818C>T ENST00000456398.1 + 0 339 TGGAGAAATACTCAATAATGA 0.269000 4 33 0 0 0.000602214 0 0 OR10A7 121364 broad.mit.edu 37 12 55615054 55615054 + Silent SNP T T A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr12:55615054T>A ENST00000326258.1 + 1 246 c.246T>A c.(244-246)ctT>ctA p.L82L NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CAAAAATGCTTGTAGATCTAG 0.413000 90 123 0 0 0.00361006 0 0 TTLL3 26140 broad.mit.edu 37 3 9876847 9876847 + Missense_Mutation SNP G G C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr3:9876847G>C ENST00000547186.1 + 13 2209 c.1993G>C c.(1993-1995)Gaa>Caa p.E665Q TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000430793.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.E808Q NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 665 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) TTTGAAGTCGGAACAATTCCT 0.587000 16 55 0 0 0.00400662 0 0 SLC35E3 55508 broad.mit.edu 37 12 69140181 69140181 + Silent SNP G G T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr12:69140181G>T ENST00000398004.2 + 1 296 c.24G>T c.(22-24)gtG>gtT p.V8V NM_018656.2 NP_061126.2 Q7Z769 S35E3_HUMAN solute carrier family 35, member E3 8 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) TGGACCGAGTGCGGGGCCACT 0.632000 13 12 1.49906e-05 7.54883e-05 0.00244969 1 0 FRG1B 0 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 9 111 0 0 0.000978159 0 0 ZNF668 79759 broad.mit.edu 37 16 31072858 31072858 + Missense_Mutation SNP G G A TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr16:31072858G>A ENST00000538906.1 - 3 2175 c.1391C>T c.(1390-1392)cCg>cTg p.P464L ZNF668_ENST00000300849.4_Missense_Mutation_p.P464L|ZNF668_ENST00000535577.1_Missense_Mutation_p.P464L|ZNF668_ENST00000539836.3_Missense_Mutation_p.P487L|ZNF668_ENST00000417110.2_Missense_Mutation_p.G16R|ZNF668_ENST00000426488.2_Missense_Mutation_p.P487L|ZNF668_ENST00000394983.2_Missense_Mutation_p.P464L NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 ACCTGACTCCGGGGGCAGCCC 0.697000 31 65 0 0 0.00375469 0 0 TUBBP5 0 broad.mit.edu 37 9 141070768 141070768 + RNA SNP C C T rs4609262 by1000genomes TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr9:141070768C>T ENST00000503395.1 + 0 1543 GCTGTGACTGCCTGCAGGGTT 0.617000 3 17 0 0 0.00024832 0 0 ATP2B2 491 broad.mit.edu 37 3 10413502 10413502 + Silent SNP G G C TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr3:10413502G>C ENST00000397077.1 - 11 2090 c.1515C>G c.(1513-1515)acC>acG p.T505T ATP2B2_ENST00000383800.4_Silent_p.T505T|ATP2B2_ENST00000352432.4_Silent_p.T550T|ATP2B2_ENST00000343816.4_Silent_p.T536T|ATP2B2_ENST00000360273.2_Silent_p.T550T Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 550 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCAGAATCTTGGTGGTGTAGG 0.532000 12 31 0 0 0.000978159 0 0 CSMD3 114788 broad.mit.edu 37 8 113358377 113358377 + Missense_Mutation SNP A A G TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr8:113358377A>G ENST00000297405.5 - 41 6635 c.6391T>C c.(6391-6393)Tat>Cat p.Y2131H CSMD3_ENST00000343508.3_Missense_Mutation_p.Y2091H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Y2027H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y2061H NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2131 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTGCTGGGATAGTTTCCAGGA 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 62 0 0 0.00195071 0 0 TRO 7216 broad.mit.edu 37 X 54955736 54955736 + Missense_Mutation SNP G G T TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chrX:54955736G>T ENST00000173898.7 + 12 2691 c.2579G>T c.(2578-2580)aGt>aTt p.S860I TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S463I|TRO_ENST00000420798.2_Missense_Mutation_p.S391I|TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 860 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GCTGGCTTTAGTGGTGTACTC 0.562000 15 24 3.52763e-06 1.91306e-05 0.000566183 1 0 SLC35F1 222553 broad.mit.edu 37 6 118228990 118228992 + In_Frame_Del DEL GCG GCG - TCGA-ET-A39P-01A-21D-A19J-08 TCGA-ET-A39P-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 34172376-3070-445a-af3c-29481e93ac41 0ebea3ce-cb3b-4026-98a1-486b6d1e2e06 g.chr6:118228990_118228992delGCG ENST00000360388.4 + 1 302_304 c.101_103delGCG c.(100-105)agc>a p.SG34del NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 34 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) GCCGAGGGCAGCGGCGGCGGCGG 0.744 3 4 --- --- --- ---