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
CSMD3	114788	broad.mit.edu	37	8	113301656	113301656	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:113301656C>T	ENST00000297405.5	-	57	9330	c.9086G>A	c.(9085-9087)gGc>gAc	p.G3029D	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3029	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATGACTGGCCTAAAAGGGA	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			66	113					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176570	22176570	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:22176570C>T	ENST00000374695.3	-	57	7489	c.7410G>A	c.(7408-7410)tgG>tgA	p.W2470*	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2470	Ig-like C2-type 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.W2470*(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGCGCTTGTGCCACGTGACCT	0.652000													5	366					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89417087	89417087	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:89417087C>T	ENST00000439576.2	+	17	7722	c.7348C>T	c.(7348-7350)Ccc>Tcc	p.P2450S	ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.P2450S|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCGGAGAGCCCCCTGTGGT	0.592000													29	52					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113540265	113540265	+	Silent	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:113540265T>C	ENST00000505019.1	-	6	1058	c.933A>G	c.(931-933)ttA>ttG	p.L311L	C4orf21_ENST00000309071.5_Silent_p.L311L|C4orf21_ENST00000445203.2_Silent_p.L280L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	311										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCTGGTAGTATAAATTTTCTG	0.368000													7	297					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14410	14410	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrM:14410G>A	ENST00000361681.2	-	1	263	c.264C>T	c.(262-264)gtC>gtT	p.V88V						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						ACACTCACCAAGACCTCAACC	0.453000													3	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567000		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)			96	27					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183694776	183694776	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:183694776G>T	ENST00000511685.1	+	23	5167	c.5044G>T	c.(5044-5046)Gat>Tat	p.D1682Y	TENM3_ENST00000406950.2_Missense_Mutation_p.D1682Y|RP11-18D7.2_ENST00000513255.1_RNA					teneurin transmembrane protein 3																		GTCCTCGATCGATTCTTTCTA	0.463000													12	239					0.00136819	0.0013986	1	1	0
RELN	5649	broad.mit.edu	37	7	103322641	103322641	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:103322641G>A	ENST00000424685.2	-	11	1370	c.1211C>T	c.(1210-1212)gCc>gTc	p.A404V	RELN_ENST00000343529.5_Missense_Mutation_p.A404V|RELN_ENST00000428762.1_Missense_Mutation_p.A404V			P78509	RELN_HUMAN	reelin	404					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCTGGTGGTGGCAAAATTGAA	0.453000													4	187					0	0	1	0	0
SORD	6652	broad.mit.edu	37	15	45357562	45357562	+	Silent	SNP	A	A	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:45357562A>G	ENST00000267814.9	+	5	699	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SORD_ENST00000558580.1_Silent_p.G152G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	173					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TTACCCTGGGACACAAGGTCC	0.562000													49	113					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073155	9073155	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:9073155G>A	ENST00000397910.4	-	3	14494	c.14291C>T	c.(14290-14292)cCg>cTg	p.P4764L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4766	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4764L(2)|p.P397L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCCATTGCGGTGTGAAAGC	0.488000													69	106					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								62	86					0	0	1	0	0
TRAF3	7187	broad.mit.edu	37	14	103371628	103371628	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:103371628G>A	ENST00000560371.1	+	11	1431	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	TRAF3_ENST00000347662.4_Missense_Mutation_p.R380H|TRAF3_ENST00000351691.5_Missense_Mutation_p.R380H|TRAF3_ENST00000539721.1_Missense_Mutation_p.R322H|TRAF3_ENST00000392745.2_Missense_Mutation_p.R405H	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	405				R -> G (in Ref. 4; AAA56753).	apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		ATGGACCTGCGCTTCCAGGTC	0.617000													4	140					0	0	1	0	0
NUTM2G	441457	broad.mit.edu	37	9	99694200	99694200	+	Silent	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:99694200C>T	ENST00000354649.3	+	2	928	c.213C>T	c.(211-213)cgC>cgT	p.R71R	HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Silent_p.R71R	NM_001045477.2	NP_001038942.1			NUT family member 2G																		AGGATGGCCGCGGCCCAAGTG	0.642000													25	49					0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125582829	125582829	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:125582829C>G	ENST00000259467.4	-	4	606	c.441G>C	c.(439-441)gaG>gaC	p.E147D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	147					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GCTGCCGCATCTCTTCCATTC	0.473000													7	202					0	0	1	0	0
CSAG4	0	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													6	161					0.00198382	0.00198382	1	1	0
ATRX	546	broad.mit.edu	37	X	76813106	76813106	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:76813106T>C	ENST00000373344.5	-	30	6729	c.6515A>G	c.(6514-6516)gAa>gGa	p.E2172G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	Helicase C-terminal.				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)	AATCTTATCTTCCATGGTTCC	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						90	36					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287414	46287414	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr13:46287414C>T	ENST00000378966.3	+	2	562	c.146C>T	c.(145-147)gCg>gTg	p.A49V	SPERT_ENST00000310521.1_Missense_Mutation_p.A85V			Q8NA61	SPERT_HUMAN	spermatid associated	85						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCAGGATGGCGAGCCAGCAC	0.672000													47	72					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													5	154					2.0095e-06	2.10084e-06	1	1	0
AKAP3	10566	broad.mit.edu	37	12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453000													5	77					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335642	180335642	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr5:180335642G>A	ENST00000231229.4	+	2	340	c.106G>A	c.(106-108)Gca>Aca	p.A36T	BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.A36T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	36	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGGAGGACGCAGCATTCTC	0.537000													27	55					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129249862	129249862	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr3:129249862G>A	ENST00000296271.3	+	2	599	c.505G>A	c.(505-507)Gca>Aca	p.A169T		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	169					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	GGCCTGCGCCGCACCCCCACT	0.617000													4	134					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39666968	39666968	+	Silent	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:39666968T>C	ENST00000265708.4	-	7	634	c.531A>G	c.(529-531)gcA>gcG	p.A177A	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Silent_p.A177A|ADAM2_ENST00000347580.4_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	177					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTATATACTTTGCAAAATCTT	0.259000													4	111					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92472597	92472597	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:92472597G>A	ENST00000267622.4	-	11	2096	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	575					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGGTTAAATGTAAATCATTT	0.318000			T	PDGFRB	AML								71	129					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:62839353A>G	ENST00000536311.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													5	29					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123071291	123071291	+	Silent	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:123071291C>T	ENST00000333479.7	+	38	3894	c.3717C>T	c.(3715-3717)tgC>tgT	p.C1239C	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1239					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCCATACTGCTCCCTTAATG	0.294000													4	93					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149922761	149922761	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr6:149922761G>C	ENST00000367411.2	-	7	1115	c.857C>G	c.(856-858)tCt>tGt	p.S286C	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000335647.5_Missense_Mutation_p.S286C	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	286					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAGCTTCTCAGATTCTCCTCT	0.408000													6	203					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628302	51628302	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:51628302C>T	ENST00000440804.3	+	1	138	c.71C>T	c.(70-72)aCg>aTg	p.T24M	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T24M	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AAACTGCTGACGATGCAGAGT	0.617000													34	60					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36874469	36874469	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:36874469G>A	ENST00000279024.4	-	2	334	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGTGGCCTCGAAAGGAGGAT	0.602000													18	40					0	0	1	0	0
SEPT7	989	broad.mit.edu	37	7	35930362	35930362	+	Silent	SNP	T	T	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:35930362T>C	ENST00000494488.2	+	10	915	c.915T>C	c.(913-915)taT>taC	p.Y305Y	SEPT7_ENST00000399035.3_Silent_p.Y318Y|SEPT7_ENST00000432293.2_Intron|SEPT7_ENST00000350320.6_Silent_p.Y318Y|SEPT7_ENST00000435235.1_Silent_p.Y266Y|SEPT7_ENST00000399034.2_Silent_p.Y320Y			Q16181	SEPT7_HUMAN	septin 7	319					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.Y320Y(3)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						CTGTGACTTATAATGGAGTTG	0.323000													4	60					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5360235	5360235	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:5360235G>C	ENST00000399537.4	-	23	6912	c.6564C>G	c.(6562-6564)taC>taG	p.Y2188*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Y2188*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2188							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCACGCGGTATCTGTAGG	0.672000													3	50					0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50666305	50666305	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:50666305C>G	ENST00000268459.3	+	9	1033	c.809C>G	c.(808-810)tCc>tGc	p.S270C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	270					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AACTACACGTCCCAATTTGGG	0.597000													36	44					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207758074	207758074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:207758074G>T	ENST00000367049.4	+	33	5383	c.5383G>T	c.(5383-5385)Gaa>Taa	p.E1795*	CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1345	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATGGAAAAGAAATATCTTA	0.473000													83	174					5.72486e-32	6.12427e-32	1	1	0
E2F2	1870	broad.mit.edu	37	1	23848548	23848548	+	Splice_Site	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:23848548G>A	ENST00000361729.2	-	3	785	c.358_splice	c.e3-1	p.T120_splice		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	120					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T120I(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGATTTGGGGGCTGAAGAAGA	0.587000													27	41					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38926244	38926244	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:38926244C>T	ENST00000335552.4	-	4	860	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	271	Coil 2.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				AGCATCTTTGCGGTTCTGCTC	0.512000													5	385					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2084102	2084102	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:2084102G>A	ENST00000382203.1	+	17	2641	c.2432G>A	c.(2431-2433)cGt>cAt	p.R811H	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	811	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGCCATGCGTCGCTCCCTT	0.403000													34	41					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	157					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)ttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408													7	457	---	---	---	---					
MUC4	4585	broad.mit.edu	37	3	195512373	195512374	+	In_Frame_Ins	INS	-	-	GAT	rs63118461	by1000genomes	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr3:195512373_195512374insGAT	ENST00000463781.3	-	2	6536_6537	c.6077_6078insATC	c.(6076-6078)tac>tATCac	p.2026_2027insH	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Ins_p.2026_2027insH	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	798					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S2026_T2027insS(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCAGTGGATGCTGAGGA	0.579													4	2	---	---	---	---					
PRSS29P	0	broad.mit.edu	37	16	1311513	1311514	+	RNA	INS	-	-	GGCA	rs5815085	by1000genomes	TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:1311513_1311514insGGCA	ENST00000568091.1	-	0	1353																											GGTGGGAGCAGGGCAGGCAGGC	0.708													4	6	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)del	p.E100del		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100	Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783													3	3	---	---	---	---					
