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
NCS1	23413	broad.mit.edu	37	9	132988727	132988727	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:132988727C>T	ENST00000372398.3	+	7	620	c.534C>T	c.(532-534)tcC>tcT	p.S178S	NCS1_ENST00000458469.1_Silent_p.S160S	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	178	EF-hand 4.|Interaction with IL1RAPL1.			S -> P (in Ref. 4; AAF01804).	negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						CAGACCCGTCCATTGTGCAGG	0.652000													5	34					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629897	47629897	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:47629897G>T	ENST00000546455.1	+	4	1782	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	PCED1B_ENST00000432328.1_Missense_Mutation_p.D351Y					PC-esterase domain containing 1B																		TTTCCAGTCGGATCAATTCTA	0.527000													106	35					1.70349e-48	1.96713e-48	1	1	0
MAMDC2	256691	broad.mit.edu	37	9	72758597	72758597	+	Missense_Mutation	SNP	A	A	T	rs151044274	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:72758597A>T	ENST00000377182.4	+	9	1883	c.1266A>T	c.(1264-1266)ttA>ttT	p.L422F	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	422	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ATGGATTTTTAAAAATGAGTG	0.458000													116	93					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36690235	36690235	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr22:36690235C>G	ENST00000216181.5	-	28	3970	c.3740G>C	c.(3739-3741)cGc>cCc	p.R1247P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1247					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CACTTTCTTGCGCTTGTGCTC	0.622000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				46	91					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46231438	46231438	+	Silent	SNP	G	G	A	rs146341546	byFrequency	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:46231438G>A	ENST00000334344.6	+	10	1450	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	ARID2_ENST00000422737.1_Silent_p.T277T|ARID2_ENST00000444670.1_Silent_p.T55T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	426					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACATGCTCACGGAAATGGGAG	0.378000			"""N, S, F"""		hepatocellular carcinoma								20	71					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1629785	1629785	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr20:1629785C>T	ENST00000381580.1	-	2	423	c.244G>A	c.(244-246)Ggc>Agc	p.G82S	SIRPG_ENST00000216927.4_Missense_Mutation_p.G115S|SIRPG_ENST00000303415.3_Missense_Mutation_p.G115S|SIRPG_ENST00000344103.4_Missense_Mutation_p.G115S|SIRPG_ENST00000381583.2_Missense_Mutation_p.G115S			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	115	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TAGTATGTGCCGACATCTGCT	0.493000													43	92					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22268675	22268675	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:22268675G>A	ENST00000263026.5	+	8	1344	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	290	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCACACGGAGACGGGCACTG	0.547000													19	45					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577506	7577506	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:7577506C>T	ENST00000420246.2	-	7	907	c.775G>A	c.(775-777)Gac>Aac	p.D259N	TP53_ENST00000359597.4_Missense_Mutation_p.D259N|TP53_ENST00000413465.2_Missense_Mutation_p.D259N|TP53_ENST00000269305.4_Missense_Mutation_p.D259N|TP53_ENST00000445888.2_Missense_Mutation_p.D259N|TP53_ENST00000455263.2_Missense_Mutation_p.D259N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (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.D259Y(21)|p.0?(8)|p.D259N(6)|p.D259fs*5(3)|p.D259fs*86(3)|p.D259F(3)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)|p.D259H(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)		GACCTGGAGTCTTCCAGTGTG	0.582000		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)			20	33					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176940689	176940689	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:176940689G>A	ENST00000507955.1	-	10	1618	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	365	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCGGCACCTTGAAGTAGGAGA	0.657000													37	75					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350201	65350201	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:65350201C>G	ENST00000284037.5	+	21	3444	c.3055C>G	c.(3055-3057)Caa>Gaa	p.Q1019E	ERBB2IP_ENST00000506030.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.Q1015E|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.Q1019E|ERBB2IP_ENST00000416865.2_Intron	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1019					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CACAGAAAATCAAAGTTATGC	0.408000													33	55					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|CIDEB_ENST00000555817.1_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711000													21	26					0	0	1	0	0
NAA30	122830	broad.mit.edu	37	14	57857978	57857978	+	Silent	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:57857978C>G	ENST00000556492.1	+	2	457	c.303C>G	c.(301-303)ctC>ctG	p.L101L	NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	101						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CCGCCTCCCTCAAGAGCAAGG	0.682000													13	25					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48506419	48506419	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:48506419G>A	ENST00000412052.1	+	12	2428	c.1966G>A	c.(1966-1968)Gac>Aac	p.D656N	ATRIP_ENST00000320211.3_Missense_Mutation_p.D749N|ATRIP_ENST00000357105.6_Missense_Mutation_p.D622N|ATRIP_ENST00000346691.4_Missense_Mutation_p.D722N	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	749					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATCAGTTTGACCAGGTGAT	0.612000								Other conserved DNA damage response genes					21	46					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:202150039C>T	ENST00000358485.4	+	8	1676	c.1481_splice	c.e8+1	p.R494_splice	CASP8_ENST00000264275.5_Splice_Site_p.R452_splice|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264274.9_Splice_Site_p.R351_splice|CASP8_ENST00000432109.2_Splice_Site_p.R435_splice|CASP8_ENST00000323492.7_Splice_Site_p.R420_splice	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502000										HNSCC(4;0.00038)			19	20					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129209189	129209189	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:129209189G>A	ENST00000280333.6	+	43	4474		c.e43+1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGAATTTGCGGTAAAAAACAA	0.468000													4	33					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76814257	76814257	+	Silent	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:76814257A>G	ENST00000373344.5	-	29	6601	c.6387T>C	c.(6385-6387)gcT>gcC	p.A2129A	ATRX_ENST00000395603.3_Silent_p.A2091A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2129	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)	TTACTCGATTAGCAGCTACCA	0.328000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						82	34					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	A	rs104894230		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:534288C>A	ENST00000417302.1	-	2	222	c.35G>T	c.(34-36)gGc>gTc	p.G12V	HRAS_ENST00000397594.1_Missense_Mutation_p.G12V|HRAS_ENST00000397596.2_Missense_Mutation_p.G12V|HRAS_ENST00000311189.7_Missense_Mutation_p.G12V|HRAS_ENST00000451590.1_Missense_Mutation_p.G12V|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCCACACCGCCGGCGCCCAC	0.647000	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			43	28					1.41504e-22	1.49194e-22	1	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100816	89100816	+	RNA	SNP	A	A	G	rs148138279	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:89100816A>G	ENST00000393525.3	+	0	1290																											AGCAAGCAGAAAGAGAAGTAA	0.303000													3	45					0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	348155	348155	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:348155G>A	ENST00000604971.1	+	3	1120	c.7G>A	c.(7-9)Gtc>Atc	p.V3I	DUSP22_ENST00000605863.1_Missense_Mutation_p.V3I|DUSP22_ENST00000603453.1_Missense_Mutation_p.V3I|DUSP22_ENST00000605035.1_Missense_Mutation_p.V3I|DUSP22_ENST00000344450.5_Missense_Mutation_p.V106I|DUSP22_ENST00000419235.2_Missense_Mutation_p.V106I|DUSP22_ENST00000605315.1_Missense_Mutation_p.V3I			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	106					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.V106I(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		CATCATGACCGTCACTGACTT	0.602000													58	197					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:10415238C>T	ENST00000226207.5	-	14	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R445L(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463000													5	288					0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110734821	110734821	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:110734821G>A	ENST00000331565.4	+	7	1577	c.1092G>A	c.(1090-1092)gaG>gaA	p.E364E		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	364					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCATGAATGAGAAGTGTGTGG	0.582000													17	34					0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575364	56575364	+	Silent	SNP	T	T	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:56575364T>C	ENST00000394023.3	-	10	963	c.858A>G	c.(856-858)tcA>tcG	p.S286S	SMARCC2_ENST00000267064.4_Silent_p.S286S|SMARCC2_ENST00000347471.4_Silent_p.S286S|SMARCC2_ENST00000550164.1_Silent_p.S286S|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	286					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCCGTCGATCTGAATCTGGGC	0.488000													5	155					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44073268	44073268	+	Splice_Site	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:44073268C>T	ENST00000378832.1	+	5	827	c.772_splice	c.e5+1	p.G257_splice		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	257							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GTGATCCAGGCGGTAAGTCAG	0.512000													69	250					0	0	1	0	0
MMP3	4314	broad.mit.edu	37	11	102713001	102713001	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:102713001T>G	ENST00000299855.5	-	4	765	c.509A>C	c.(508-510)gAc>gCc	p.D170A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	170					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGTAAAAGTCTCCATGTTC	0.413000													15	50					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405026	135405026	+	Nonsense_Mutation	SNP	C	C	T	rs148277760		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:135405026C>T	ENST00000394143.1	+	5	451	c.160C>T	c.(160-162)Cga>Tga	p.R54*	GPR112_ENST00000287534.4_5'UTR|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Nonsense_Mutation_p.R54*|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	54					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R54*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAACTCAGCCGATTCACAGC	0.403000													47	15					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121028675	121028675	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:121028675C>T	ENST00000392793.1	+	14	4702	c.4431C>T	c.(4429-4431)cgC>cgT	p.R1477R	TECTA_ENST00000264037.2_Silent_p.R1477R			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGGGTGCGCGGCTGCTTCA	0.682000													17	45					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236252	106236252	+	RNA	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:106236252G>T	ENST00000390551.2	-	0	551																											TCAGGGGTCCGGGAAATCATA	0.577000													58	114					2.84144e-21	2.96365e-21	1	1	0
IGFN1	91156	broad.mit.edu	37	1	201196084	201196084	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:201196084C>T	ENST00000335211.4	+	23	10991	c.10861C>T	c.(10861-10863)Cgg>Tgg	p.R3621W	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTGGGCCTGCGGTCCCACCT	0.667000													4	96					0	0	1	0	0
ZNHIT2	741	broad.mit.edu	37	11	64884964	64884964	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:64884964G>A	ENST00000310597.4	-	1	206	c.162C>T	c.(160-162)ctC>ctT	p.L54L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	54							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						TGCAACCGCGGAGCTCTCCCA	0.672000													4	6					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378801	31378801	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:31378801G>T	ENST00000297142.3	-	2	404	c.82C>A	c.(82-84)Cag>Aag	p.Q28K		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	28					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						ATTTGCTTCTGGTCCTCGCAT	0.413000													52	92					1.32667e-27	1.42986e-27	1	1	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	7					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115941031	115941031	+	Silent	SNP	C	C	A	rs141462079	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:115941031C>A	ENST00000238256.3	-	20	2082	c.1965G>T	c.(1963-1965)ctG>ctT	p.L655L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	655					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTTTCAGCTGCAGATGAGAGA	0.478000													7	16					0.27861	0.281513	1	1	0
OR10G8	219869	broad.mit.edu	37	11	123901133	123901133	+	Silent	SNP	T	T	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:123901133T>C	ENST00000431524.1	+	1	837	c.804T>C	c.(802-804)gaT>gaC	p.D268D		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AAGCTGTGGATGGAGTTGTGG	0.527000													64	92					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147985764	147985764	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:147985764C>A	ENST00000370460.2	+	9	1852	c.1373C>A	c.(1372-1374)gCa>gAa	p.A458E	AFF2_ENST00000370458.1_Missense_Mutation_p.A419E|AFF2_ENST00000342251.3_Missense_Mutation_p.A425E|AFF2_ENST00000370457.5_Missense_Mutation_p.A425E|AFF2_ENST00000286437.5_Missense_Mutation_p.A99E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	458					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTTGAAAAGGCAAAACCTAGG	0.294000													66	27					4.83677e-39	5.51961e-39	1	1	0
RCOR1	23186	broad.mit.edu	37	14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463000													6	300					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140307492	140307492	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:140307492G>A	ENST00000253807.2	+	1	1015	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.E339K|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2												p.E339K(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGCCCCCGAACTGGACTT	0.522000													59	121					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101257365	101257365	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr13:101257365G>A	ENST00000342624.5	-	19	2424	c.2166C>T	c.(2164-2166)gaC>gaT	p.D722D	TMTC4_ENST00000376234.3_Silent_p.D703D|TMTC4_ENST00000328767.5_Silent_p.D592D	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	703						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTTGGCCAAGTCTAGATGTC	0.458000													52	93					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92998376	92998376	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:92998376C>T	ENST00000523629.1	-	9	1709	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.V419I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.V382I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.V382I|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.V430I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.V392I|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.V382I	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	419					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V419I(1)|p.V382I(1)|p.V430I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCTGGGTTGACGGGACTCTGC	0.453000													59	102					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411705	105411705	+	Silent	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:105411705A>G	ENST00000333244.5	-	7	10202	c.10083T>C	c.(10081-10083)ccT>ccC	p.P3361P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3361						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGTCCACAGAAGGGAGCTGAA	0.672000													151	192					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228769656	228769656	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:228769656C>T	ENST00000373666.2	+	8	1296	c.660C>T	c.(658-660)gcC>gcT	p.A220A	DAW1_ENST00000545118.1_Silent_p.A205A|DAW1_ENST00000309931.2_Silent_p.A220A					dynein assembly factor with WDR repeat domains 1																		GACATTCTGCCGAAATCATCT	0.413000													48	85					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47976630	47976630	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:47976630G>C	ENST00000543600.1	-	2	635	c.596C>G	c.(595-597)tCt>tGt	p.S199C	PTCHD4_ENST00000339488.4_Missense_Mutation_p.S216C			Q6ZW05	CF138_HUMAN	patched domain containing 4	216						integral to membrane	hedgehog receptor activity										GGATGCTAAAGAGTAGAGCTG	0.532000													24	36					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128956418	128956418	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:128956418G>A	ENST00000274487.4	+	9	1713	c.1568G>A	c.(1567-1569)cGa>cAa	p.R523Q	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	523	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R523Q(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCATGGTCTCGATGTAGCAAG	0.388000													36	143					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16357047	16357047	+	Silent	SNP	C	C	T	rs143389794		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:16357047C>T	ENST00000375692.1	+	16	1628	c.1500C>T	c.(1498-1500)ccC>ccT	p.P500P	CLCNKA_ENST00000420078.1_Silent_p.P500P|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.P457P|CLCNKA_ENST00000331433.4_Silent_p.P500P			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	500					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGCACTGCCCGTGCTGATGG	0.627000													28	80					0	0	1	0	0
OR8B3	390271	broad.mit.edu	37	11	124266319	124266319	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:124266319C>G	ENST00000354597.3	-	1	945	c.929G>C	c.(928-930)aGa>aCa	p.R310T		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAATATATTTCTTCTCTGAAT	0.328000													40	50					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38853118	38853118	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr21:38853118C>T	ENST00000339659.3	+	4	1949	c.479C>T	c.(478-480)tCc>tTc	p.S160F	DYRK1A_ENST00000451934.1_Missense_Mutation_p.S169F|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S169F|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000398956.2_Missense_Mutation_p.S169F|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S169F	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	169	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCAAAGGTTCCTTTGGACAG	0.338000													12	18					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641418	141641418	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:141641418G>T	ENST00000389484.3	-	25	5108	c.4137C>A	c.(4135-4137)caC>caA	p.H1379Q		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1379					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGCCCTGGGGTGTTCCATGG	0.398000										TSP Lung(27;0.18)			55	88					1.93748e-29	2.16018e-29	1	1	0
CCDC8	83987	broad.mit.edu	37	19	46914994	46914994	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:46914994G>A	ENST00000307522.3	-	1	1847	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	358						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGGTTATCTGCAG	0.587000													4	115					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21382702	21382702	+	Silent	SNP	T	T	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr13:21382702T>C	ENST00000400602.2	-	12	1547	c.1512A>G	c.(1510-1512)gtA>gtG	p.V504V	XPO4_ENST00000255305.6_Silent_p.V504V	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	504					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GGAGTCTTGTTACTCTTTCTT	0.358000													16	27					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7763677	7763677	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:7763677G>A	ENST00000358415.4	+	8	970	c.804G>A	c.(802-804)gcG>gcA	p.A268A	ITIH2_ENST00000379587.4_Silent_p.A257A	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	268					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGGAGACTGCGGTAGATGGGG	0.557000													43	31					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18882803	18882803	+	Splice_Site	SNP	T	T	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:18882803T>A	ENST00000446231.2	-	16	2597	c.2183_splice	c.e16-1	p.K729_splice	SMG1_ENST00000389467.3_Splice_Site_p.K729_splice			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	729	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTAACAGTTTCCTGAAACAC	0.328000													13	11					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87726087	87726087	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr6:87726087G>A	ENST00000305344.4	+	2	1738	c.1035G>A	c.(1033-1035)acG>acA	p.T345T	HTR1E_ENST00000369584.1_Silent_p.T345T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	345					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TGCTCTATACGAGTTTTAATG	0.443000													40	79					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21424307	21424307	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:21424307C>T	ENST00000304625.2	+	2	467	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	126					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	p.A126E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TGCAGGTATGCGCAGACACCA	0.458000													40	77					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79372955	79372955	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:79372955G>A	ENST00000264895.6	+	46	6933	c.6493G>A	c.(6493-6495)Gaa>Aaa	p.E2165K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2164					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGAACAGGAGAACCTGGAGG	0.388000													9	20					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70594470	70594470	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:70594470G>A	ENST00000260126.3	-	7	2437	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	SLCO5A1_ENST00000524945.1_Silent_p.Y577Y|SLCO5A1_ENST00000530307.1_Silent_p.Y522Y	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	577	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGGGTTAAAGTATGTAATTC	0.433000													50	74					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46969272	46969272	+	Silent	SNP	C	C	G	rs145402665	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:46969272C>G	ENST00000374325.3	-	2	341	c.189G>C	c.(187-189)ccG>ccC	p.P63P	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_Silent_p.P63P|SYT15_ENST00000503753.1_Silent_p.P63P	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	63						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCCTAGCATGCGGCTGGCAGG	0.617000													11	63					0	0	1	0	0
NME7	29922	broad.mit.edu	37	1	169256566	169256566	+	Silent	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:169256566A>G	ENST00000367811.3	-	7	985	c.729T>C	c.(727-729)atT>atC	p.I243I	NME7_ENST00000472647.1_Silent_p.I207I|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	243					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GGGGTTTAACAATGCAACAGG	0.358000													107	180					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577090	7577090	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr17:7577090C>G	ENST00000420246.2	-	8	980	c.848G>C	c.(847-849)cGc>cCc	p.R283P	TP53_ENST00000359597.4_Missense_Mutation_p.R283P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R283P|TP53_ENST00000445888.2_Missense_Mutation_p.R283P|TP53_ENST00000455263.2_Missense_Mutation_p.R283P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	283	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; 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.R283P(27)|p.R283H(13)|p.0?(8)|p.R283L(4)|p.R283fs*23(2)|p.?(2)|p.R283fs*16(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(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)		TTCCTCTGTGCGCCGGTCTCT	0.562000		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)			26	28					0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99696030	99696030	+	Silent	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr10:99696030C>T	ENST00000370597.3	-	3	673	c.318G>A	c.(316-318)gcG>gcA	p.A106A	CRTAC1_ENST00000298819.4_Silent_p.A106A|CRTAC1_ENST00000370591.2_Silent_p.A106A	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	106						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGTCCCGCAGCGCGTAGTAGG	0.617000													14	69					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585279	70585279	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr8:70585279C>T	ENST00000260126.3	-	10	3078	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R736Q	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	791						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AGATCTAGTCCGGGCATTGTC	0.572000													32	55					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	A	rs104894229		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:534289C>A	ENST00000417302.1	-	2	221	c.34G>T	c.(34-36)Ggc>Tgc	p.G12C	HRAS_ENST00000397594.1_Missense_Mutation_p.G12C|HRAS_ENST00000397596.2_Missense_Mutation_p.G12C|HRAS_ENST00000311189.7_Missense_Mutation_p.G12C|HRAS_ENST00000451590.1_Missense_Mutation_p.G12C|HRAS_ENST00000468682.2_5'UTR	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CCCACACCGCCGGCGCCCACC	0.647000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			44	27					4.18559e-23	4.46156e-23	1	1	0
MYRIP	25924	broad.mit.edu	37	3	40231844	40231844	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:40231844A>G	ENST00000302541.6	+	10	1897	c.1555A>G	c.(1555-1557)Acc>Gcc	p.T519A	MYRIP_ENST00000425621.1_Missense_Mutation_p.T519A|MYRIP_ENST00000539167.1_Missense_Mutation_p.T332A|MYRIP_ENST00000444716.1_Missense_Mutation_p.T519A|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.T430A	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	519	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GGCCCCCCACACCACAGACCG	0.637000													35	49					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653083	55653083	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:55653083G>A	ENST00000449290.2	+	2	271	c.179G>A	c.(178-180)cGg>cAg	p.R60Q		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	60						intracellular	zinc ion binding										AAGACAACGCGGCAGAGAAAC	0.493000													8	14					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394749	86394749	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:86394749G>C	ENST00000361669.2	+	2	1387	c.288G>C	c.(286-288)ttG>ttC	p.L96F	GRM3_ENST00000394720.2_Missense_Mutation_p.L94F|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.L96F|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	96				L -> F (in Ref. 3; AAH41407).	synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTCACATTTTGGATACATGTT	0.428000													75	130					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79203976	79203976	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:79203976G>T	ENST00000264895.6	+	12	1550	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	FRAS1_ENST00000325942.6_Missense_Mutation_p.E370D|FRAS1_ENST00000264899.6_Missense_Mutation_p.E370D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	370	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGCGTAGGAGGGAGAGAAGT	0.498000													32	61					1.59932e-28	1.74308e-28	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195410627	195410627	+	RNA	SNP	A	A	G	rs6583272	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:195410627A>G	ENST00000445430.1	+	0	1824																											CCTCAGGTGCAGATTGATGAG	0.473000													3	12					0	0	1	0	0
OXSM	54995	broad.mit.edu	37	3	25833227	25833227	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr3:25833227G>T	ENST00000280701.3	+	2	815	c.716G>T	c.(715-717)tGt>tTt	p.C239F	OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	239					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ACAGATTCTTGTATTAGCCCT	0.488000													38	85					1.5731e-28	1.73399e-28	1	1	0
IAH1	285148	broad.mit.edu	37	2	9616151	9616151	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr2:9616151G>A	ENST00000497473.1	+	2	154	c.117G>A	c.(115-117)ctG>ctA	p.L39L	IAH1_ENST00000489468.1_3'UTR|IAH1_ENST00000482918.1_5'UTR|IAH1_ENST00000545602.1_Intron|IAH1_ENST00000470914.1_Intron	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	39					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAGCATCGCTGGCTGACAGGC	0.478000													24	34					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73067831	73067831	+	RNA	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:73067831C>T	ENST00000429829.1	-	0	4757					NR_001564.2																						GTGCAAAGGTCTTGACTAGAG	0.423000													33	9					0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78602238	78602238	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr5:78602238G>A	ENST00000396137.4	+	7	2384	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	641					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATCCAACAGCGCACTCGGATT	0.313000													5	308					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90500052	90500052	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:90500052C>T	ENST00000325643.5	+	4	716	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGACCACACTCAACCCTGAGT	0.617000													105	82					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227710	169227710	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:169227710G>A	ENST00000393743.3	-	5	717	c.426C>T	c.(424-426)ttC>ttT	p.F142F		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	142							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAACTATCAGGAAATATGGGT	0.393000													34	75					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222715	22222715	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:22222715G>A	ENST00000374695.3	-	2	231	c.152C>T	c.(151-153)tCg>tTg	p.S51L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	51					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			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)	AGAAAGGTACGAATGTGTCCA	0.562000													61	103					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91369252	91369252	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr14:91369252C>A	ENST00000261991.3	-	9	1192	c.1019G>T	c.(1018-1020)cGa>cTa	p.R340L	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.R261L|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R340L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	340	AGC-kinase C-terminal.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TAATTCATCTCGAATGACTGG	0.408000													16	50					1.67942e-08	1.73301e-08	1	1	0
C7orf34	135927	broad.mit.edu	37	7	142637512	142637512	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr7:142637512G>A	ENST00000409607.3	+	2	323	c.282G>A	c.(280-282)atG>atA	p.M94I		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	69						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					TGGTGGACATGGCCCAGCAGG	0.527000													39	68					0	0	1	0	0
ADH5	128	broad.mit.edu	37	4	100003216	100003216	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr4:100003216C>T	ENST00000296412.8	-	3	216	c.166G>A	c.(166-168)Gat>Aat	p.D56N	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	56					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CCCTCAGGATCAGCTCCACTC	0.468000													11	30					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276363	186276363	+	Missense_Mutation	SNP	G	G	T	rs113621509		TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:186276363G>T	ENST00000445192.2	+	7	1557	c.1512G>T	c.(1510-1512)aaG>aaT	p.K504N	PRG4_ENST00000367486.3_Missense_Mutation_p.K461N|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.K463N|PRG4_ENST00000367485.4_Missense_Mutation_p.K411N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	504	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCACTCCCAAGGAGCCTGCAC	0.647000													45	72					2.59344e-38	2.92516e-38	1	1	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													6	95					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878254	5878254	+	Silent	SNP	G	G	A			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr11:5878254G>A	ENST00000537935.1	-	1	710	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACAGCATACAGGATCCTGACA	0.458000													6	158					0	0	1	0	0
RP11-400N13.1	0	broad.mit.edu	37	1	222435119	222435119	+	RNA	DEL	T	T	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr1:222435119delT	ENST00000416510.1	-	0	167																											CAATAATTTCTTTTTTTTTTA	0.299													2	4	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46245690	46245690	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr12:46245690delA	ENST00000334344.6	+	15	3956	c.3784delA	c.(3784-3786)aafs	p.K1262fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.K872fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.K1113fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1262					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCATGAACGTAAAATTGAAGT	0.423			"""N, S, F"""		hepatocellular carcinoma								51	22	---	---	---	---					
RP11-488I20.8	0	broad.mit.edu	37	16	34481062	34481062	+	RNA	DEL	A	A	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr16:34481062delA	ENST00000569557.2	+	0	63																											CCTTTGGGGCAAAAAAAAAAA	0.438													3	3	---	---	---	---					
SF3A2	8175	broad.mit.edu	37	19	2248458	2248458	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:2248458delC	ENST00000221494.4	+	9	1726	c.1308delC	c.(1306-1308)cafs	p.H436fs		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	436	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGGTGCACCCCCCAACTC	0.682													2	4	---	---	---	---					
CRLF1	9244	broad.mit.edu	37	19	18704897	18704898	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:18704897_18704898insT	ENST00000392386.3	-	8	1425_1426	c.1232_1233insA	c.(1231-1233)tggfs	p.W411fs	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	411					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCCGTCTGCCCGAGGGCAGGAT	0.668													2	4	---	---	---	---					
ZNF234	10780	broad.mit.edu	37	19	44654608	44654608	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chr19:44654608delA	ENST00000426739.2	+	5	443	c.185delA	c.(184-186)gafs	p.E62fs	ZNF234_ENST00000592437.1_Frame_Shift_Del_p.E62fs	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TTAGAAAAGGAAAAAAAGCTT	0.368													2	4	---	---	---	---					
LINC01278	92249	broad.mit.edu	37	X	62733894	62733894	+	RNA	DEL	C	C	-			TCGA-P3-A6T2-01A-11D-A34J-08	TCGA-P3-A6T2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e5863aa-e5cb-4d2a-8b39-34e90d8152b5	12ea5efd-f694-47d8-a046-ae4341939a65	g.chrX:62733894delC	ENST00000433061.1	-	0	391																											gagctcatatccaaggttact	0.433													2	4	---	---	---	---					
