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
WFDC1	58189	broad.mit.edu	37	16	84328689	84328689	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:84328689G>A	ENST00000219454.5	+	1	438	c.112G>A	c.(112-114)Gca>Aca	p.A38T	WFDC1_ENST00000568638.1_Missense_Mutation_p.A38T			Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	38					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTGGAAACGGGCATTGCCTGC	0.642000													5	161					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978935	247978935	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr1:247978935A>G	ENST00000357627.1	-	1	96	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCACACAAATAAATCAACAAG	0.368000													3	56					0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3599793	3599793	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:3599793T>C	ENST00000315212.3	-	3	705	c.350A>G	c.(349-351)cAc>cGc	p.H117R		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	117					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGGCTTCATGTGCTTTGCATA	0.512000													43	50					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76640749	76640749	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:76640749G>T	ENST00000369950.3	-	15	2353	c.2164C>A	c.(2164-2166)Ctg>Atg	p.L722M	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	722					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGACCGTCCAGGCTCCCCTGG	0.582000													13	71					2.27111e-07	2.42004e-07	1	1	0
AFTPH	54812	broad.mit.edu	37	2	64778694	64778694	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:64778694G>A	ENST00000422803.1	+	2	400	c.86G>A	c.(85-87)gGg>gAg	p.G29E	AFTPH_ENST00000238855.7_Missense_Mutation_p.G29E|AFTPH_ENST00000409933.1_Missense_Mutation_p.G29E|AFTPH_ENST00000238856.4_Missense_Mutation_p.G29E			Q6ULP2	AFTIN_HUMAN	aftiphilin	29					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GATGAATTTGGGGAATTTGGT	0.433000													31	128					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677010	73677010	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:73677010A>C	ENST00000264448.6	+	8	3464	c.3353A>C	c.(3352-3354)gAg>gCg	p.E1118A	ALMS1_ENST00000409009.1_Missense_Mutation_p.E1076A|ALMS1_ENST00000377715.1_Missense_Mutation_p.E1118A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1118	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGCCTAAAGAGGCTCTGAAA	0.468000													104	137					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122002556	122002556	+	Silent	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:122002556C>T	ENST00000498619.1	+	7	2223	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	CASR_ENST00000296154.5_Silent_p.C585C|CASR_ENST00000490131.1_Silent_p.C585C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	585					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTAACAAGTGCCCAGATGACT	0.502000													10	70					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939841	76939841	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:76939841C>A	ENST00000373344.5	-	9	1121	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E265*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	303					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)	TTACTCTTTTCACTGTCAACT	0.343000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						43	40					1.96642e-18	2.13029e-18	1	1	0
RNF44	22838	broad.mit.edu	37	5	175956358	175956358	+	Silent	SNP	C	C	T	rs145628075		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:175956358C>T	ENST00000274811.4	-	10	1691	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	RNF44_ENST00000537487.1_Silent_p.A308A	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	389							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGCCGCGCCTCGAAGT	0.607000													15	58					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110760805	110760805	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:110760805A>G	ENST00000308664.6	+	6	1146	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	ATP2A2_ENST00000539276.2_Missense_Mutation_p.K158E|ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000395494.2_Intron	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	158					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGTTGGTGACAAAGTTCCTGC	0.313000													12	43					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357061	70357061	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70357061G>A	ENST00000333646.6	+	39	5775	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	MED12_ENST00000374102.1_Missense_Mutation_p.R1859H|MED12_ENST00000374080.3_Missense_Mutation_p.R1859H|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1859	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACCCATACCGTCCTGTGCGC	0.567000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						15	51					0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231999	7231999	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:7231999T>C	ENST00000383467.2	+	1	877	c.863T>C	c.(862-864)cTg>cCg	p.L288P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	288										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGGGGGGCCTGGAGATGCTC	0.587000													127	164					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25232090	25232090	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:25232090A>G	ENST00000276440.7	+	37	3780	c.3736A>G	c.(3736-3738)Aag>Gag	p.K1246E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1246	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATATCTGTACAAGCTTCGAGA	0.463000													55	230					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47126779	47126779	+	Silent	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:47126779T>C	ENST00000290341.3	+	15	2041	c.1707T>C	c.(1705-1707)agT>agC	p.S569S	IGF2BP1_ENST00000431824.2_Silent_p.S430S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	569	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGACAGAGTAACCAGGCCC	0.592000													18	34					0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918750	17918750	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:17918750A>T	ENST00000318683.6	+	2	281	c.134A>T	c.(133-135)gAg>gTg	p.E45V	B3GNT3_ENST00000595387.1_Missense_Mutation_p.E45V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	45					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCGATCCCCGAGGCCCTGGCC	0.682000													10	41					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42749758	42749758	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:42749758C>T	ENST00000330714.3	+	3	476	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	MX2_ENST00000543692.1_Missense_Mutation_p.R98C	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	98					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GCAGAAGGTGCGCCCCTGCAT	0.632000													4	112					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108489868	108489868	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:108489868C>T	ENST00000263054.6	-	6	971	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	SORCS1_ENST00000344440.6_Missense_Mutation_p.V322M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	322						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GACCCCATCACAGACCTAAAA	0.403000													4	56					0	0	1	0	0
SRD5A3	79644	broad.mit.edu	37	4	56236091	56236091	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:56236091G>A	ENST00000264228.4	+	5	1018	c.790G>A	c.(790-792)Gtt>Att	p.V264I	SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	264					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GATGATCTACGTTTCCATGGC	0.468000													22	78					0	0	1	0	0
FAM66D	0	broad.mit.edu	37	8	11986016	11986016	+	RNA	SNP	C	C	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:11986016C>A	ENST00000434078.2	+	0	608					NR_027425.1																						AACGTCTTGGCGGCAGGCGCC	0.478000													4	51					3.59834e-05	3.77245e-05	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47660773	47660773	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:47660773G>A	ENST00000397708.1	-	27	5839	c.5585C>T	c.(5584-5586)gCg>gTg	p.A1862V	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1862V|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1862					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAACACTGCGCCAAGAGCTC	0.512000													54	70					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101477057	101477057	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:101477057A>T	ENST00000341893.3	+	9	2359	c.1607A>T	c.(1606-1608)aAa>aTa	p.K536I	CEP97_ENST00000327230.4_Missense_Mutation_p.K536I|CEP97_ENST00000494050.1_Missense_Mutation_p.K477I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	536	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACTTCAGAGAAACTTCCCATG	0.393000													71	119					0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158541488	158541488	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:158541488C>T	ENST00000367102.2	-	11	1276	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I	SERAC1_ENST00000367101.1_Missense_Mutation_p.V379I|SERAC1_ENST00000367104.3_Missense_Mutation_p.V379I			Q96JX3	SRAC1_HUMAN	serine active site containing 1	379					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGCACATATACGCCATCCTGA	0.443000													11	89					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677330	149677330	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:149677330G>A	ENST00000328668.7	-	2	1736	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	386						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGATCTCCGTGCGTGGTGA	0.647000													41	40					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105882865	105882865	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:105882865A>T	ENST00000372548.4	+	9	1791	c.1682A>T	c.(1681-1683)tAt>tTt	p.Y561F	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	561										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTATAAAGTATATCCCCCAT	0.418000													4	141					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183908941	183908941	+	Silent	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.P483P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTTCTCGCCGCCAATTCTGC	0.567000													4	148					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	37					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35700785	35700785	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:35700785G>A	ENST00000440995.2	+	16	2314	c.2314G>A	c.(2314-2316)Gca>Aca	p.A772T	SPEF2_ENST00000509059.1_Missense_Mutation_p.A772T|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.A777T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	777					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCCTCTCCTGCATTTGATTT	0.368000													4	43					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87870115	87870115	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:87870115G>A	ENST00000261622.4	-	8	1344	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SLC7A5_ENST00000565644.1_Missense_Mutation_p.R161W	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	427					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TTGATGGGCCGCTCAAGCTCA	0.622000													3	47					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382992	108382992	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:108382992C>T	ENST00000265843.4	-	6	3352	c.3242G>A	c.(3241-3243)tGt>tAt	p.C1081Y	EXPH5_ENST00000428840.1_Missense_Mutation_p.C1005Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C893Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1074Y	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1081					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTTTGGAACATTCATTCGC	0.433000													4	121					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	rs138729528		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:7578407G>C	ENST00000420246.2	-	5	655	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000269305.4_Missense_Mutation_p.R175G|TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.R174fs*3(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)		TGGGGGCAGCGCCTCACAACC	0.657000		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)			58	16					0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601513	6601513	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:6601513G>A	ENST00000229238.3	-	3	772	c.311C>T	c.(310-312)gCt>gTt	p.A104V	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Missense_Mutation_p.A8V	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	104					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						CAGGTCATCAGCGAACATTCT	0.438000													12	274					0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175565136	175565136	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:175565136G>A	ENST00000274093.3	-	10	1698	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	GLRA3_ENST00000340217.5_Missense_Mutation_p.T384I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GCCCTTTGGAGTCATGCCATC	0.478000													23	123					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492938	21492938	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr20:21492938G>A	ENST00000377142.4	-	2	801	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	149					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCGCTGCTGCCGAAAGCGC	0.672000													13	22					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2968246	2968246	+	Silent	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657000			Mis		DLBCL								64	58					0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929433	35929433	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:35929433G>T	ENST00000374694.1	-	1	929	c.925C>A	c.(925-927)Ccg>Acg	p.P309T		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	309					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCCGCTCCGGGTACTTGAAG	0.627000													5	26					0.014758	0.0149886	1	1	0
RNF121	55298	broad.mit.edu	37	11	71705781	71705781	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:71705781G>A	ENST00000361756.3	+	7	1005	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D|RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000545854.1_Missense_Mutation_p.G134D	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	215						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCGAGTCGGGCATGCCTACC	0.493000													4	185					0	0	1	0	0
MBTPS2	51360	broad.mit.edu	37	X	21886592	21886592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:21886592G>A	ENST00000365779.2	+	6	759	c.678G>A	c.(676-678)tgG>tgA	p.W226*	MBTPS2_ENST00000379484.5_Nonsense_Mutation_p.W226*			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	226			W -> L (in IFAPS; does not affect subcellular localization; impairs activity).		cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAGGTATCTGGCATAATTTTG	0.433000													8	385					0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42044968	42044968	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:42044968C>T	ENST00000220809.4	-	6	743	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	163	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G163R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCCTCCGCCCGCTGTAGGGC	0.652000													8	43					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901235	61901235	+	Missense_Mutation	SNP	G	G	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:61901235G>T	ENST00000427159.2	-	13	1877	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	411					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTCTGCAATGGAAACCCCAGG	0.572000													53	103					1.4374e-25	1.61088e-25	1	1	0
TBL3	10607	broad.mit.edu	37	16	2024560	2024560	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:2024560G>C	ENST00000568546.1	+	5	387	c.259G>C	c.(259-261)Gca>Cca	p.A87P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	87					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCAGTCGGGCATTGCTGCT	0.657000													17	40					0	0	1	0	0
ING3	54556	broad.mit.edu	37	7	120604816	120604816	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:120604816G>C	ENST00000315870.5	+	5	436	c.288G>C	c.(286-288)aaG>aaC	p.K96N	ING3_ENST00000431467.1_Missense_Mutation_p.K81N	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	96					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTTGAGAAAGCTGGATCAGG	0.363000													40	53					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924807	109924807	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:109924807C>G	ENST00000218054.4	-	10	1249	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	CHRDL1_ENST00000372042.1_Missense_Mutation_p.E353D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E345D|CHRDL1_ENST00000394797.4_Missense_Mutation_p.E351D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E273D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E272D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E352D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	345					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGAATACAGACTCATACACAG	0.468000													4	176					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102920404	102920404	+	RNA	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:102920404G>A	ENST00000312132.4	-	0	453																											ACCACCTTTAGCTCCAAGCCT	0.632000													10	27					0	0	1	0	0
LRRC37A11P	0	broad.mit.edu	37	17	37199509	37199509	+	RNA	SNP	C	C	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:37199509C>T	ENST00000425901.2	+	0	2662					NR_033753.2																						AGGCCTGGCACGGAATGCAGT	0.358000													5	95					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129568	83129568	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:83129568T>G	ENST00000329312.4	+	4	1889	c.1852T>G	c.(1852-1854)Tca>Gca	p.S618A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	618	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCTCTACCATCACCAAAGGT	0.428000													11	84					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118235895	118235895	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:118235895G>C	ENST00000252108.3	+	2	231	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	UBE4A_ENST00000431736.2_Missense_Mutation_p.E34Q	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	34					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCAAAAAGAGCAGCTGAA	0.438000													19	9					0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987149	61987149	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr13:61987149C>G	ENST00000409186.1	-	5	3188	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q361H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAACTTTCTGACTGTAAG	0.433000													6	97					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147431125	147431125	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:147431125G>A	ENST00000432059.2	-	3	506	c.260C>T	c.(259-261)aCa>aTa	p.T87I	SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T87I|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000507030.1_Missense_Mutation_p.T87I|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T87I|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T87I			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	87						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAGCCATATTGTTGCTGGGAA	0.358000													30	50					0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122755191	122755191	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:122755191T>C	ENST00000245838.8	-	31	4064	c.4033A>G	c.(4033-4035)Act>Gct	p.T1345A	THOC2_ENST00000355725.4_Missense_Mutation_p.T1345A|THOC2_ENST00000491737.1_Missense_Mutation_p.T1230A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1345	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGGGGACAGTGGTCTTAAAT	0.378000													12	91					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70823728	70823728	+	Missense_Mutation	SNP	A	A	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70823728A>T	ENST00000373695.1	+	7	1138	c.601A>T	c.(601-603)Agt>Tgt	p.S201C	ACRC_ENST00000373696.3_Missense_Mutation_p.S201C			Q96QF7	ACRC_HUMAN	acidic repeat containing	201	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CGACGACAACAGTGATGATTC	0.498000													171	252					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78685148	78685148	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:78685148T>G	ENST00000436010.2	-	21	4028	c.3031A>C	c.(3031-3033)Atg>Ctg	p.M1011L	ROBO1_ENST00000495273.1_Missense_Mutation_p.M1005L|ROBO1_ENST00000464233.1_Missense_Mutation_p.M1050L|ROBO1_ENST00000467549.1_Intron			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1050					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGGTTTTCATCTCATTGATT	0.423000													28	19					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11157494	11157494	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:11157494G>C	ENST00000337414.4	-	13	3286	c.2414C>G	c.(2413-2415)cCc>cGc	p.P805R	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P602R|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P602R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	805					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCGTCGCGGGGGCTGCGGC	0.731000													9	4					0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128631771	128631771	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:128631771T>C	ENST00000272647.5	-	3	298	c.38A>G	c.(37-39)aAg>aGg	p.K13R	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K13R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	13										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGCTGCCAACTTGGGCTCGAG	0.502000													11	33					0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117589627	117589627	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:117589627G>C	ENST00000326274.5	+	2	554	c.364G>C	c.(364-366)Gca>Cca	p.A122P	VGLL2_ENST00000352536.3_Missense_Mutation_p.A122P	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	122					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CAGCAGCAAAGCACCAAGGAG	0.592000													9	35					0	0	1	0	0
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													6	12	---	---	---	---					
TRIM55	84675	broad.mit.edu	37	8	67047371	67047372	+	Frame_Shift_Del	DEL	AT	AT	-	rs144861717		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:67047371_67047372delAT	ENST00000315962.4	+	3	861_862	c.488_489delAT	c.(487-489)cfs	p.H163fs	TRIM55_ENST00000276573.7_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000350034.4_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000353317.5_Frame_Shift_Del_p.H163fs	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	163						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCCTCACTCATGTGTTCCAGA	0.584													17	127	---	---	---	---					
LINGO2	158038	broad.mit.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaccaafs	p.NQ409fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.NQ409fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	409	LRRCT.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.490													26	111	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321928	66321928	+	RNA	DEL	A	A	-	rs141435934		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:66321928delA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						accctgtctcaaaaaaaaaaa	0.537													2	4	---	---	---	---					
NEO1	4756	broad.mit.edu	37	15	73418883	73418883	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr15:73418883delA	ENST00000339362.5	+	5	1297	c.850delA	c.(850-852)aafs	p.K284fs	NEO1_ENST00000560262.1_Frame_Shift_Del_p.K284fs|NEO1_ENST00000261908.6_Frame_Shift_Del_p.K284fs|NEO1_ENST00000558964.1_Frame_Shift_Del_p.K284fs			Q92859	NEO1_HUMAN	neogenin 1	284	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TAAATGGATGAAAAATGAGGA	0.423													11	54	---	---	---	---					
TWSG1	57045	broad.mit.edu	37	18	9337233	9337234	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:9337233_9337234insT	ENST00000262120.5	+	2	197_198	c.6_7insT	c.(4-9)aatacafs	p.T3fs	TWSG1_ENST00000581641.1_Frame_Shift_Ins_p.T3fs	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	3										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GAAACATGAAGTTACACTATGT	0.391													9	149	---	---	---	---					
ZNF761	388561	broad.mit.edu	37	19	53946133	53946133	+	RNA	DEL	A	A	-	rs35108555		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													5	5	---	---	---	---