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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 3 69 0 0 0.004672 0 0 ZC3H18 124245 broad.mit.edu 37 16 88675418 88675418 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr16:88675418A>G ENST00000301011.5 + 7 1365 c.1165A>G c.(1165-1167)Agg>Ggg p.R389G ZC3H18_ENST00000452588.2_Missense_Mutation_p.R413G NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 389 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) TGAGAATTTCAGGGTGCAGTA 0.408000 3 91 0 0 0.004672 0 0 CHD7 55636 broad.mit.edu 37 8 61707578 61707578 + Missense_Mutation SNP G G T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr8:61707578G>T ENST00000423902.2 + 4 2609 c.2130G>T c.(2128-2130)ttG>ttT p.L710F CHD7_ENST00000525508.1_Missense_Mutation_p.L710F|CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 710 Lys-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CAAGTGCTTTGAAGAAAAAGG 0.403000 4 95 0.000602214 0.00109151 0.014758 1 0 F7 2155 broad.mit.edu 37 13 113768272 113768272 + Missense_Mutation SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr13:113768272C>T ENST00000375581.3 + 5 463 c.428C>T c.(427-429)aCg>aTg p.T143M F7_ENST00000473085.1_3'UTR|F7_ENST00000541084.1_Missense_Mutation_p.T74M|F7_ENST00000346342.3_Missense_Mutation_p.T121M NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 143 anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AACTGTGAGACGCGTAAGGCC 0.632000 12 44 0 0 0.020292 0 0 NTMT1 28989 broad.mit.edu 37 9 132397704 132397704 + Silent SNP C C G rs151072869 TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr9:132397704C>G ENST00000372486.1 + 4 982 c.633C>G c.(631-633)ccC>ccG p.P211P NTMT1_ENST00000372480.1_Silent_p.P211P|NTMT1_ENST00000372483.4_Silent_p.P211P|NTMT1_ENST00000482347.1_Silent_p.P123P|NTMT1_ENST00000372481.3_3'UTR N-terminal Xaa-Pro-Lys N-methyltransferase 1 AGAACCTCCCCGATGAGATCT 0.627000 3 107 0 0 0.004672 0 0 STT3A 3703 broad.mit.edu 37 11 125479386 125479386 + Missense_Mutation SNP A A C TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr11:125479386A>C ENST00000392708.4 + 10 1178 c.1019A>C c.(1018-1020)aAg>aCg p.K340T STT3A_ENST00000529196.1_Missense_Mutation_p.K340T|STT3A_ENST00000531491.1_Missense_Mutation_p.K248T NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 340 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) TCTTATGCTAAGAACAACATC 0.473000 38 97 0 0 0.098360 0 0 FCGBP 8857 broad.mit.edu 37 19 40364079 40364079 + Missense_Mutation SNP G G A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr19:40364079G>A ENST00000221347.6 - 31 14570 c.14563C>T c.(14563-14565)Cgc>Tgc p.R4855C NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4855 VWFD 12. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCAGGCAGCGGCCACAGCCT 0.642000 24 33 0 0 0.069288 0 0 ANKS1A 23294 broad.mit.edu 37 6 34985386 34985386 + Silent SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr6:34985386C>T ENST00000360359.3 + 11 1698 c.1560C>T c.(1558-1560)ctC>ctT p.L520L ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 520 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCCAGCTGCTCTGTACCGCTG 0.692000 7 35 0 0 0.038147 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232629364 232629364 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:232629364A>G ENST00000366630.1 - 3 1884 c.1526T>C c.(1525-1527)gTa>gCa p.V509A SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V509A|SIPA1L2_ENST00000486472.1_5'UTR Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 509 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCTGACTGCTACTGGACCAAG 0.458000 5 304 0 0 0.014758 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 90 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 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 18 47 0 0 0.038395 0 0 HSD17B7P2 0 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 50 0 0 0.004672 0 0 CADM1 23705 broad.mit.edu 37 11 115102104 115102104 + Missense_Mutation SNP G G C TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr11:115102104G>C ENST00000542447.2 - 4 659 c.531C>G c.(529-531)atC>atG p.I177M CADM1_ENST00000331581.6_Missense_Mutation_p.I177M|CADM1_ENST00000452722.2_Missense_Mutation_p.I177M|CADM1_ENST00000537058.1_Missense_Mutation_p.I177M|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.I177M NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 177 Ig-like C2-type 1. adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.I177I(1) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) TGAACCACCTGATAGTCGTGG 0.463000 5 81 0 0 0.014758 0 0 HSPH1 10808 broad.mit.edu 37 13 31725226 31725226 + Missense_Mutation SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr13:31725226C>A ENST00000320027.5 - 7 1110 c.766G>T c.(766-768)Gca>Tca p.A256S HSPH1_ENST00000380406.5_Missense_Mutation_p.A215S|HSPH1_ENST00000445273.2_Missense_Mutation_p.A258S|HSPH1_ENST00000380405.4_Missense_Mutation_p.A256S|HSPH1_ENST00000429785.2_Missense_Mutation_p.A75S NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 256 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TTGGATTTTGCATCCAACTTG 0.373000 25 48 1.85244e-09 3.8372e-09 0.083992 1 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 8 85 0 0 0.058154 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299235 186299235 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr3:186299235A>G ENST00000439351.1 + 6 1461 c.532A>G c.(532-534)Acc>Gcc p.T178A DNAJB11_ENST00000265028.3_Missense_Mutation_p.T178A Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 178 protein folding endoplasmic reticulum lumen heat shock protein binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) GATGCGGACCACCCAGCTGGG 0.517000 33 65 0 0 0.074837 0 0 HBS1L 10767 broad.mit.edu 37 6 135314952 135314952 + Missense_Mutation SNP T T C TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr6:135314952T>C ENST00000367837.5 - 8 1233 c.1027A>G c.(1027-1029)Atg>Gtg p.M343V HBS1L_ENST00000527578.1_Missense_Mutation_p.M179V|HBS1L_ENST00000415177.2_Missense_Mutation_p.M278V|HBS1L_ENST00000367824.4_Missense_Mutation_p.M179V|HBS1L_ENST00000367826.2_Missense_Mutation_p.M301V|HBS1L_ENST00000445176.2_Missense_Mutation_p.M67V NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 343 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) GGAGCATCCATTAATGTAATA 0.373000 4 34 0 0 0.009096 0 0 GUCA2B 2981 broad.mit.edu 37 1 42620417 42620417 + Missense_Mutation SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:42620417C>A ENST00000372581.1 + 2 187 c.157C>A c.(157-159)Ccc>Acc p.P53T NM_007102.2 NP_009033.1 Q16661 GUC2B_HUMAN guanylate cyclase activator 2B (uroguanylin) 53 excretion extracellular region calcium sensitive guanylate cyclase activator activity breast(1)|large_intestine(2) 3 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACAGTGGGCACCCAGCCCCCG 0.647000 16 34 9.16793e-09 1.83359e-08 0.033300 1 0 CAPNS1 826 broad.mit.edu 37 19 36637183 36637183 + Silent SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr19:36637183C>A ENST00000246533.3 + 9 1288 c.690C>A c.(688-690)atC>atA p.I230I CAPNS1_ENST00000588815.1_Silent_p.I230I|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000587718.1_Silent_p.I230I|CAPNS1_ENST00000590874.1_Silent_p.I200I|CAPNS1_ENST00000588780.1_Silent_p.I240I|CAPNS1_ENST00000589146.1_Silent_p.I56I NM_001003962.1|NM_001749.2 NP_001003962.1|NP_001740.1 P04632 CPNS1_HUMAN calpain, small subunit 1 230 EF-hand 4. positive regulation of cell proliferation cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) ACAACTTCATCAGCTGCTTGG 0.493000 91 136 3.04226e-33 6.53523e-33 0.048971 1 0 DPY19L2P1 0 broad.mit.edu 37 7 35131521 35131521 + RNA SNP G G A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr7:35131521G>A ENST00000436258.1 - 0 1848 ACAGCTTGACGCTTGCCATTG 0.398000 4 92 0 0 0.009096 0 0 SYNE2 23224 broad.mit.edu 37 14 64560157 64560157 + Missense_Mutation SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr14:64560157C>A ENST00000357395.3 + 62 12366 c.1222C>A c.(1222-1224)Cat>Aat p.H408N SYNE2_ENST00000554584.1_Missense_Mutation_p.H4056N|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.H408N|SYNE2_ENST00000358025.3_Missense_Mutation_p.H4023N|SYNE2_ENST00000344113.4_Missense_Mutation_p.H4023N|SYNE2_ENST00000555002.1_Missense_Mutation_p.H657N Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 4023 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTCCCTTGAACATATGTCACC 0.328000 4 94 0.00024832 0.000464599 0.009096 1 0 FAM86FP 0 broad.mit.edu 37 12 8387019 8387019 + RNA SNP C C A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr12:8387019C>A ENST00000427893.2 - 0 747 CAATACAGCACGTCTACGGTG 0.602000 4 18 2.17888e-05 4.2125e-05 0.058154 1 0 NCOA3 8202 broad.mit.edu 37 20 46262900 46262900 + Missense_Mutation SNP A A G TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr20:46262900A>G ENST00000372004.3 + 10 1289 c.1073A>G c.(1072-1074)aAt>aGt p.N358S NCOA3_ENST00000341724.6_Missense_Mutation_p.N368S|NCOA3_ENST00000371997.3_Missense_Mutation_p.N368S|NCOA3_ENST00000371998.3_Missense_Mutation_p.N358S NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 358 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CCTGTAACAAATGATCGACAT 0.398000 23 74 0 0 0.091800 0 0 SYT11 23208 broad.mit.edu 37 1 155838393 155838393 + Silent SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:155838393C>T ENST00000368324.4 + 2 925 c.672C>T c.(670-672)gaC>gaT p.D224D SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 224 C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CTGTGTTTGACGAGACCTTCA 0.557000 19 44 0 0 0.038395 0 0 CDK13 8621 broad.mit.edu 37 7 40027812 40027812 + Missense_Mutation SNP C C T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr7:40027812C>T ENST00000181839.4 + 2 2431 c.1826C>T c.(1825-1827)cCg>cTg p.P609L CDK13_ENST00000340829.5_Missense_Mutation_p.P609L|CDK13_ENST00000484589.1_3'UTR NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 609 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 ACATTACCACCGTTACCTTTG 0.393000 22 47 0 0 0.099896 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18343437 18343437 + RNA SNP G G A TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr17:18343437G>A ENST00000580052.1 + 0 43 KRT16P1_ENST00000581027.1_RNA CAGCACCTACGGGGGGGCCTG 0.692000 5 3 0 0 0.014758 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858710 149858710 + Frame_Shift_Del DEL G G - TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr1:149858710delG ENST00000331380.2 + 1 186 c.186delG c.(184-186)gafs p.E62fs NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 62 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TGACCGCCGAGATCCTGGAGC 0.672 37 63 --- --- --- --- GTF2IRD1P1 0 broad.mit.edu 37 7 66304730 66304731 + RNA INS - - T TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr7:66304730_66304731insT ENST00000457166.1 - 0 189 NR_003934.1 TTTTCTTTCCCttttttttttt 0.510 4 8 --- --- --- --- AGAP4 119016 broad.mit.edu 37 10 46342668 46342688 + In_Frame_Del DEL GCTCCTGCCATCCTGTCCCCA GCTCCTGCCATCCTGTCCCCA - TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA ENST00000448048.2 - 1 233_253 c.108_128delTGGGGACAGGATGGCAGGAGC c.(106-129)gcg>gc p.AGDRMAGA36del AGAP4_ENST00000430779.2_5'UTR NM_133446.2 NP_597703.2 Q96P64 AGAP4_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 36 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.G37_A43delGDRMAGA(1) central_nervous_system(1)|lung(1)|ovary(1) 3 AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT 0.588 5 10 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129903719 129903719 + Frame_Shift_Del DEL C C - TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr10:129903719delC ENST00000368654.3 - 13 6760 c.6385delG c.(6385-6387)atfs p.D2129fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.D1769fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2129 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCACTATATCCCTTTTCCCC 0.488 14 366 --- --- --- --- TRAV9-2 0 broad.mit.edu 37 14 22409533 22409539 + RNA DEL CTCTCTC CTCTCTC - rs57759840 TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr14:22409533_22409539delCTCTCTC ENST00000390441.2 + 0 102 ctctctctctctctctctTTTTTTTTT 0.415 5 6 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25465467 25465469 + RNA DEL GAA GAA - TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr15:25465467_25465469delGAA ENST00000424208.1 + 0 3039 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGGTGAGACCGAAGAAGACTTGC 0.581 3 6 --- --- --- --- RBBP6 5930 broad.mit.edu 37 16 24581020 24581021 + Frame_Shift_Ins INS - - AC TCGA-DJ-A2PZ-01A-21D-A18F-08 TCGA-DJ-A2PZ-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47823436-dc3b-4dc3-ad15-923a6121bd38 84d11fd9-30d2-4915-9f09-f42b4c0f10a3 g.chr16:24581020_24581021insAC ENST00000319715.4 + 17 3441_3442 c.3009_3010insAC c.(3007-3012)gaaagafs p.R1004fs RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.R970fs NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 1004 Interaction with RB1 (By similarity). protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) CAGTGTCTGAAAAAGACAAGAG 0.371 45 65 --- --- --- ---