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 DNAH2 146754 broad.mit.edu 37 17 7722542 7722542 + Missense_Mutation SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:7722542G>A ENST00000572933.1 + 72 12291 c.10831G>A c.(10831-10833)Gcc>Acc p.A3611T DNAH2_ENST00000389173.2_Missense_Mutation_p.A3611T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3611 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A3611T(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCGCCCATGCGCCCAGCGGGC 0.607000 5 102 0 0 0.001984 0 0 PCLO 27445 broad.mit.edu 37 7 82584499 82584499 + Missense_Mutation SNP T T C TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr7:82584499T>C ENST00000423517.2 - 5 6107 c.5770A>G c.(5770-5772)Aaa>Gaa p.K1924E PCLO_ENST00000333891.8_Missense_Mutation_p.K1924E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1855 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TTGTGTGTTTTATGCATCATT 0.358000 4 4 0 0 0.000602 0 0 RPL36A 6173 broad.mit.edu 37 X 100650727 100650727 + Silent SNP C C A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chrX:100650727C>A ENST00000427805.2 + 5 532 c.420C>A c.(418-420)atC>atA p.I140I RPL36A-HNRNPH2_ENST00000409170.3_Intron|RPL36A_ENST00000553110.3_Silent_p.I104I|RPL36A_ENST00000471855.1_Silent_p.I23I NM_021029.5 NP_066357.2 ribosomal protein L36a liver(4)|lung(1)|prostate(1) 6 GCCAAGTGATCCAGTTCTAAG 0.343000 8 22 0.00185496 0.00346259 0.001855 1 0 PLEKHN1 84069 broad.mit.edu 37 1 907717 907717 + Silent SNP C C T TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr1:907717C>T ENST00000379409.2 + 9 1101 c.1071C>T c.(1069-1071)taC>taT p.Y357Y PLEKHN1_ENST00000379407.2_Silent_p.Y317Y|PLEKHN1_ENST00000379410.3_Silent_p.Y305Y Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 357 PH 2. central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) ACGAGGACTACGGTCACTGGC 0.687000 3 47 0 0 0.000248 0 0 FBXL20 84961 broad.mit.edu 37 17 37431233 37431233 + Missense_Mutation SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:37431233G>A ENST00000264658.6 - 10 1077 c.817C>T c.(817-819)Cca>Tca p.P273S FBXL20_ENST00000394294.3_Missense_Mutation_p.P241S|FBXL20_ENST00000583610.1_Missense_Mutation_p.P273S|FBXL20_ENST00000577399.1_Missense_Mutation_p.P275S NM_032875.2 NP_116264.2 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 273 cytoplasm breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 LUAD - Lung adenocarcinoma(14;0.146) CTAAGCCGTGGGCAGTTCTGA 0.408000 20 49 0 0 0.003954 0 0 LIMD1 8994 broad.mit.edu 37 3 45636405 45636405 + Missense_Mutation SNP A A T TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr3:45636405A>T ENST00000273317.4 + 1 55 c.34A>T c.(34-36)Agt>Tgt p.S12C LIMD1_ENST00000440097.1_Missense_Mutation_p.S12C|LIMD1_ENST00000465039.1_Intron NM_014240.2 NP_055055.1 Q9UGP4 LIMD1_HUMAN LIM domains containing 1 12 cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315) CCTGGAGGCCAGTAAATTCAT 0.557000 11 30 0 0 0.002450 0 0 TCF7L2 6934 broad.mit.edu 37 10 114911638 114911638 + Silent SNP C C A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr10:114911638C>A ENST00000545257.1 + 10 1663 c.1156C>A c.(1156-1158)Cgg>Agg p.R386R TCF7L2_ENST00000543371.1_Silent_p.R386R|TCF7L2_ENST00000534894.1_Silent_p.R386R|TCF7L2_ENST00000538897.1_Silent_p.R386R|TCF7L2_ENST00000536810.1_Silent_p.R386R|TCF7L2_ENST00000355717.4_Silent_p.R410R|TCF7L2_ENST00000352065.5_Silent_p.R363R|TCF7L2_ENST00000369386.1_Silent_p.R29R|TCF7L2_ENST00000542695.1_Silent_p.R102R|TCF7L2_ENST00000355995.4_Silent_p.R386R|TCF7L2_ENST00000369389.1_Silent_p.R97R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369397.4_Silent_p.R363R Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 386 Mediates interaction with MAD2L2. anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GATCCTTGGGCGGAGGGTAGG 0.547000 T VTI1A colorectal 3 58 1.23904e-05 2.47808e-05 0.000602 1 0 TRAIP 10293 broad.mit.edu 37 3 49866894 49866894 + Silent SNP C C T rs146306196 byFrequency TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr3:49866894C>T ENST00000331456.2 - 14 1397 c.1284G>A c.(1282-1284)caG>caA p.Q428Q TRAIP_ENST00000469027.1_Silent_p.Q273Q NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 428 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGATACAGGCTGGATGAATT 0.577000 22 35 0 0 0.004656 0 0 TSSK4 283629 broad.mit.edu 37 14 24676436 24676436 + Silent SNP T T C TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr14:24676436T>C ENST00000339917.5 + 3 759 c.555T>C c.(553-555)tcT>tcC p.S185S TSSK4_ENST00000428351.2_Intron|TSSK4_ENST00000556621.1_Silent_p.S99S|TSSK4_ENST00000287913.6_Silent_p.S175S|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron NM_001184739.1|NM_174944.3 NP_001171668.1|NP_777604.2 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 175 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 GBM - Glioblastoma multiforme(265;0.018) TGGTGCCTTCTAACCAGCCTG 0.502000 8 134 0 0 0.008291 0 0 ZMYND8 23613 broad.mit.edu 37 20 45891129 45891129 + Silent SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr20:45891129G>A ENST00000311275.7 - 12 1717 c.1464C>T c.(1462-1464)tcC>tcT p.S488S ZMYND8_ENST00000262975.4_Silent_p.S488S|ZMYND8_ENST00000372023.3_Silent_p.S483S|ZMYND8_ENST00000352431.2_Silent_p.S508S|ZMYND8_ENST00000396281.4_Silent_p.S488S|ZMYND8_ENST00000355972.4_Silent_p.S488S|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.S425S|ZMYND8_ENST00000461685.1_Silent_p.S508S|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000536340.1_Silent_p.S515S|ZMYND8_ENST00000471951.2_Silent_p.S508S|ZMYND8_ENST00000458360.2_Silent_p.S483S|ZMYND8_ENST00000360911.3_Silent_p.S483S Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 488 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TTGGGCTGCCGGATAAACTCC 0.488000 4 51 0 0 0.000248 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e 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 16 20 0 0 0.008871 0 0 COL11A2 1302 broad.mit.edu 37 6 33139342 33139342 + Missense_Mutation SNP C C T TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr6:33139342C>T ENST00000341947.2 - 43 3387 c.3160G>A c.(3160-3162)Ggc>Agc p.G1054S COL11A2_ENST00000361917.1_Missense_Mutation_p.G947S|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1033S|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1007S|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1028S|COL11A2_ENST00000374712.1_Missense_Mutation_p.G973S|COL11A2_ENST00000374708.4_Missense_Mutation_p.G968S|COL11A2_ENST00000395197.1_Missense_Mutation_p.G994S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1054 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCAATGGGGCCCTTCTCACCC 0.617000 7 14 0 0 0.004482 0 0 TULP4 56995 broad.mit.edu 37 6 158923511 158923511 + Missense_Mutation SNP G G A TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr6:158923511G>A ENST00000367097.3 + 13 4173 c.2816G>A c.(2815-2817)aGc>aAc p.S939N TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 939 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CAGCCCTGCAGCAGTGCCACC 0.672000 4 128 0 0 0.000248 0 0 PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 5 4 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57180750 57180752 + In_Frame_Del DEL AGG AGG - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr4:57180750_57180752delAGG ENST00000504228.1 + 6 1187_1189 c.1082_1084delAGG c.(1081-1086)cag>c p.QE361del KIAA1211_ENST00000541073.1_In_Frame_Del_p.QE354del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QE361del Q6ZU35 K1211_HUMAN KIAA1211 361 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) ctcaaaaggcaggaggaggagga 0.704 2 4 --- --- --- --- EFCAB4A 283229 broad.mit.edu 37 11 831640 831642 + In_Frame_Del DEL CTG CTG - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr11:831640_831642delCTG ENST00000525077.1 + 9 1232_1234 c.1131_1133delCTG c.(1129-1134)acc>ac p.TC377del EFCAB4A_ENST00000528542.2_3'UTR|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000450448.1_3'UTR Q8N4Y2 EFC4A_HUMAN EF-hand calcium binding domain 4A 377 store-operated calcium entry calcium ion binding endometrium(1)|large_intestine(1)|lung(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGGCCCACCTGCTGCTGCTGC 0.695 2 4 --- --- --- --- ABCA5 23461 broad.mit.edu 37 17 67257831 67257831 + Frame_Shift_Del DEL A A - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:67257831delA ENST00000392676.3 - 25 3438 c.3374delT c.(3373-3375)tcfs p.F1125fs ABCA5_ENST00000392677.2_Frame_Shift_Del_p.F1126fs|ABCA5_ENST00000588877.1_Frame_Shift_Del_p.F1125fs Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1125 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) CTTAAAGGTGAAAGAAGCAAT 0.264 2 4 --- --- --- --- RP11-1055B8.7 0 broad.mit.edu 37 17 79409285 79409285 + Frame_Shift_Del DEL G G - TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr17:79409285delG ENST00000307745.7 + 9 910 c.910delG c.(910-912)ggfs p.G305fs CAGCTGTGCAGGGGGCATGCT 0.726 2 4 --- --- --- --- AC005301.8 0 broad.mit.edu 37 22 17229159 17229159 + RNA DEL A A - rs111298402 TCGA-ET-A3DP-01A-11D-A21A-08 TCGA-ET-A3DP-11A-22D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e1d8a9ef-371b-4aff-a116-6e38a084f140 43940b7d-7b62-4832-9622-16fd0730a98e g.chr22:17229159delA ENST00000422917.1 - 0 370 gctttgggggaactcacccga 0.622 2 4 --- --- --- ---