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
CATSPER4	378807	broad.mit.edu	37	1	26524560	26524560	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:26524560T>G	uc010oez.2	+	4	670	c.670T>G	c.(670-672)Ttc>Gtc	p.F224V	CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	224					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCTCTTCTTCATGCTGGT	0.597												
SDCCAG8	10806	broad.mit.edu	37	1	243507526	243507526	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507526G>C	uc001hzw.3	+	11	1535	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E268Q|MIR4677_uc021plt.1_5'Flank	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	456	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGTGTGTGGAGAAATGCGCTA	0.423												
SDCCAG8	10806	broad.mit.edu	37	1	243507574	243507574	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507574G>A	uc001hzw.3	+	11	1583	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E327K|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E284K|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E284K|MIR4677_uc021plt.1_5'Flank	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	472	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGATGAGGCAGAAAAGGAGCA	0.393												
OGDHL	55753	broad.mit.edu	37	10	50959004	50959004	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr10:50959004C>A	uc009xog.3	-	5	892	c.858G>T	c.(856-858)tgG>tgT	p.W286C	OGDHL_uc001jie.3_Missense_Mutation_p.W259C|OGDHL_uc010qgt.2_Missense_Mutation_p.W202C|OGDHL_uc010qgu.2_Missense_Mutation_p.W50C|OGDHL_uc009xoh.2_Missense_Mutation_p.W50C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	259					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCTCTGAGGACCATTTCCGGG	0.562												
CYSLTR2	57105	broad.mit.edu	37	13	49280992	49280992	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr13:49280992C>T	uc010acw.1	+	1	329	c.39C>T	c.(37-39)tcC>tcT	p.S13S	CYSLTR2_uc010acx.1_Silent_p.S13S|CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S|CYSLTR2_uc021rjl.1_Silent_p.S13S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	13					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CATCCATCTCCGTATCAGAAA	0.373												
SLC27A2	11001	broad.mit.edu	37	15	50515253	50515253	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:50515253A>G	uc001zxw.3	+	4	1296	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SLC27A2_uc010bes.3_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.3_Missense_Mutation_p.D120G	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	355					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGATTTGGGGACATATGCATC	0.428												
SEC11A	23478	broad.mit.edu	37	15	85234816	85234816	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:85234816C>T	uc002blb.1	-	1	479	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SEC11A_uc002blc.1_Silent_p.K11K	NM_014300	NP_055115	P67812	SC11A_HUMAN	Homo sapiens SEC11 homolog A (S. cerevisiae) (SEC11A), mRNA.	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CCATTAACCCCTTCCAGATCA	0.408												
C16orf54	283897	broad.mit.edu	37	16	29755735	29755735	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:29755735C>T	uc002dtp.2	-	1	647	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	180						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAAACTGGACGCTGGCCTCT	0.711												
PKD1L2	114780	broad.mit.edu	37	16	81211460	81211460	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:81211460C>T	uc002fgh.1	-	13	2389	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.3_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	797	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTGTGGAGGCGTTGCAGAAG	0.592												
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
KRTAP4-11	653240	broad.mit.edu	37	17	39274319	39274319	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:39274319G>C	uc002hvz.3	-	0	288	c.249C>G	c.(247-249)agC>agG	p.S83R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	83	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S83R(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCTTGCAGCAGCTGGACACAC	0.662												
KCTD2	23510	broad.mit.edu	37	17	73043590	73043590	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:73043590A>G	uc002jmp.3	+	0	312	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	82	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GGAGGCACCTACTTCGTGACC	0.711												
ZNF525	170958	broad.mit.edu	37	19	53885026	53885026	+	Silent	SNP	T	T	C	rs61741918	by1000genomes	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr19:53885026T>C	uc010eqn.3	+	3	1279	c.1086T>C	c.(1084-1086)ctT>ctC	p.L362L	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TGTCAACCCTTACATGCCATC	0.383												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:233274433G>A	uc002vss.4	+	10	1503	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751												
SPP2	6694	broad.mit.edu	37	2	234967503	234967503	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:234967503C>G	uc002vvk.1	+	2	319	c.234C>G	c.(232-234)aaC>aaG	p.N78K	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	78					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.N77D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATGAGAACAACTTGGTCATGA	0.423												
PER2	8864	broad.mit.edu	37	2	239157759	239157759	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:239157759G>A	uc002vyc.3	-	21	3799	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	PER2_uc010znv.1_Missense_Mutation_p.R1188C	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1188	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGACCTCGCGCAGCTCCTGC	0.567												
CHD6	84181	broad.mit.edu	37	20	40049780	40049780	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:40049780C>T	uc002xka.1	-	30	5673	c.5495G>A	c.(5494-5496)tGt>tAt	p.C1832Y		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1832					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGGAGTCACAGACACTAAG	0.388												
PREX1	57580	broad.mit.edu	37	20	47267957	47267957	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:47267957C>T	uc002xtw.1	-	21	2655	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	PREX1_uc002xtv.1_Missense_Mutation_p.G175S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	878					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R877R(1)|p.R877L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGAAGCAGCCGCGGGGCTCC	0.607												
PIK3R1	5295	broad.mit.edu	37	5	67589147	67589147	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:67589147A>G	uc003jva.3	+	9	1715	c.1135A>G	c.(1135-1137)Aaa>Gaa	p.K379E	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109E|PIK3R1_uc003jve.3_Missense_Mutation_p.K58E|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16E|PIK3R1_uc011crb.2_Missense_Mutation_p.K49E	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
ARSK	153642	broad.mit.edu	37	5	94936730	94936730	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:94936730T>C	uc003kld.3	+	6	1434	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	ARSK_uc010jbg.3_Missense_Mutation_p.Y267H|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	426						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CCACTGGAAATATATAGCCTA	0.368												
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:115202418_115202421delAAGA	uc003krl.3	+	1	237_240	c.121_124delAAGA	c.(121-126)aagagafs	p.K41fs	AP3S1_uc003krk.3_Frame_Shift_Del_p.K19fs	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	41					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	p.R42I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304												
PCDHB18	54660	broad.mit.edu	37	5	140615413	140615413	+	Silent	SNP	C	C	G	rs3733683	by1000genomes	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:140615413C>G	uc003ljc.1	+	0	1476	c.1128C>G	c.(1126-1128)ccC>ccG	p.P376P						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGGGGACACCCAGGCTGAAAA	0.522												
MSH5	4439	broad.mit.edu	37	6	31729252	31729252	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:31729252G>A	uc003nwu.2	+	21	2172	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	MSH5_uc003nwx.2_Missense_Mutation_p.D699N|MSH5_uc003nwv.2_Missense_Mutation_p.D681N|MSH5_uc003nww.2_Missense_Mutation_p.D681N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	681					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TTTGCAGGTGGATGGGCTCGC	0.577								Direct reversal of damage;Mismatch excision repair (MMR)				
CD2AP	23607	broad.mit.edu	37	6	47547178	47547178	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:47547178C>T	uc003oyw.3	+	8	1417	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	321	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGAGTATTTCCAGACAATTT	0.343												
EPHA7	2045	broad.mit.edu	37	6	94120318	94120318	+	Missense_Mutation	SNP	C	C	T	rs41273629	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:94120318C>T	uc003poe.3	-	2	974	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	EPHA7_uc003pof.3_Missense_Mutation_p.A245T|EPHA7_uc011eac.2_Missense_Mutation_p.A245T|EPHA7_uc003pog.4_Missense_Mutation_p.A245T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	245	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCTGGGGGCGTTTTCCGCT	0.483												
CCDC129	223075	broad.mit.edu	37	7	31614260	31614260	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:31614260T>A	uc011kae.2	+	6	592	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tcj.1_Missense_Mutation_p.F168I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	168										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCAGCCAGATTCCTTGGTTG	0.478												
EGFR	1956	broad.mit.edu	37	7	55219021	55219021	+	Silent	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55219021C>T	uc003tqk.3	+	4	840	c.594C>T	c.(592-594)agC>agT	p.S198S	EGFR_uc003tqh.3_Silent_p.S198S|EGFR_uc003tqi.3_Silent_p.S198S|EGFR_uc003tqj.3_Silent_p.S198S|EGFR_uc022adm.1_Silent_p.S198S|EGFR_uc010kzg.2_Silent_p.S153S|EGFR_uc022adn.1_Silent_p.S153S|EGFR_uc011kco.2_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	198					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAATGGGAGCTGCTGGGGTG	0.493		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
SULF1	23213	broad.mit.edu	37	8	70488235	70488235	+	Missense_Mutation	SNP	A	A	C			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:70488235A>C	uc003xyg.2	+	4	764	c.203A>C	c.(202-204)aAg>aCg	p.K68T	SULF1_uc010lza.1_Missense_Mutation_p.K68T|SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	68					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAACGAGAAAGATTATGGAA	0.517												
ZNF251	90987	broad.mit.edu	37	8	145947815	145947815	+	Silent	SNP	G	G	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:145947815G>A	uc003zdv.4	-	4	1486	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGGCTCTGCCGCATTCATTAC	0.443												
GABBR2	9568	broad.mit.edu	37	9	101052880	101052880	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:101052880C>G	uc004ays.3	-	18	3272	c.2812G>C	c.(2812-2814)Gtc>Ctc	p.V938L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	938					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.V938V(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCCCGAGACCATGACTCGG	0.687												
FUT7	2529	broad.mit.edu	37	9	139925805	139925805	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:139925805C>T	uc004ckq.2	-	1	1235	c.386G>A	c.(385-387)gGc>gAc	p.G129D	ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.	129					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GTGGCTGAGGCCGTGGGTGTG	0.711												
FOXR2	139628	broad.mit.edu	37	X	55650997	55650997	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:55650997C>T	uc004duo.3	+	0	1165	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	285					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						GGAGGAGACTCGTGTCTTAGC	0.502												
ATRX	546	broad.mit.edu	37	X	76872118	76872118	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:76872118C>G	uc004ecp.4	-	21	5761	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ATRX_uc004ecq.4_Missense_Mutation_p.Q1805H|ATRX_uc004eco.4_Missense_Mutation_p.Q1628H	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1843					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGAGCTTGCACTGAATAGAAG	0.328			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
TBX22	50945	broad.mit.edu	37	X	79282295	79282295	+	Silent	SNP	C	C	A			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:79282295C>A	uc010nmg.1	+	5	860	c.726C>A	c.(724-726)ccC>ccA	p.P242P	TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	242					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCTTGCCCACTGAAGGTG	0.463