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
LAMA5	3911	broad.mit.edu	37	20	60888747	60888747	+	Silent	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:60888747G>A	ENST00000252999.3	-	63	8682	c.8616C>T	c.(8614-8616)gaC>gaT	p.D2872D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2872	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACGAAGTCGTCTGGCCGCA	0.662000													67	83					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													8	50					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34950354	34950354	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:34950354A>G	ENST00000382021.2	+	11	1627	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	DNAJC21_ENST00000342382.4_Missense_Mutation_p.D422G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D435G|DNAJC21_ENST00000512136.1_3'UTR	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	422					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAAATCAAGACAGTGCCAAA	0.358000													3	47					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900715	202900715	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:202900715C>T	ENST00000286201.1	+	1	1406	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	449					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCTCTTCCGTATCCGCAC	0.612000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	93					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													4	65					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	164					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50538030	50538030	+	Translation_Start_Site	SNP	A	A	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr22:50538030A>T	ENST00000395843.1	+	0	443				MOV10L1_ENST00000262794.5_Splice_Site_p.E147D|MOV10L1_ENST00000545383.1_Splice_Site_p.E147D|MOV10L1_ENST00000395858.3_Splice_Site_p.E147D|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Splice_Site_p.E127D			Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)						germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGTGCGAAGGTATGCTCA	0.512000													14	41					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957283	237957283	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:237957283C>T	ENST00000366574.2	+	95	14216	c.13899C>T	c.(13897-13899)ctC>ctT	p.L4633L	RYR2_ENST00000542537.1_Silent_p.L4617L|RYR2_ENST00000360064.6_Silent_p.L4639L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4633					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATAGACTCGTAATCAACA	0.363000													15	18					0	0	1	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128879232	128879232	+	Silent	SNP	A	A	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:128879232A>T	ENST00000371106.3	+	4	480	c.288A>T	c.(286-288)acA>acT	p.T96T	XPNPEP2_ENST00000371105.3_Silent_p.T96T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	96					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGCTTTACAGGGTCTGCAG	0.488000													3	30					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146044497	146044497	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:146044497G>A	ENST00000296577.4	+	15	2020	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	502	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCAGCTCGAGTTGTCAAA	0.383000													37	32					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107314667	107314667	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:107314667C>T	ENST00000265715.3	+	5	698	c.474C>T	c.(472-474)gaC>gaT	p.D158D		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	158					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGCCCCCGACGAACACTTTC	0.433000									Pendred syndrome				5	80					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89180794	89180794	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:89180794A>G	ENST00000317447.4	+	6	1402	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	342					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGCTGGAGAAGTGGAAGAAC	0.647000													32	90					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104510918	104510918	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:104510918G>A	ENST00000304883.2	-	5	1459	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	440						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCCTGCGAGAGCAGCCATT	0.478000													68	107					0	0	1	0	0
G0S2	50486	broad.mit.edu	37	1	209849305	209849305	+	Silent	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:209849305C>T	ENST00000367029.4	+	2	438	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	92					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CGGTCCTCGGCGGCCGGGCCC	0.667000													13	22					0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35736644	35736644	+	Missense_Mutation	SNP	A	A	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:35736644A>C	ENST00000353704.2	+	9	1475	c.1037A>C	c.(1036-1038)cAg>cCg	p.Q346P	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	370	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTCCCCCTGCAGGCAAATCTC	0.567000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	187					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070719	141070719	+	RNA	SNP	C	C	T	rs12353121	by1000genomes	TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:141070719C>T	ENST00000503395.1	+	0	1494																											GCGGAGCTGACGGAGTCAGTG	0.617000													3	18					0	0	1	0	0
MED24	9862	broad.mit.edu	37	17	38188968	38188968	+	Missense_Mutation	SNP	G	G	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:38188968G>T	ENST00000394126.1	-	8	1363	c.945C>A	c.(943-945)ttC>ttA	p.F315L	MED24_ENST00000501516.3_Missense_Mutation_p.F309L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000394128.2_Missense_Mutation_p.F290L|MED24_ENST00000394127.2_Missense_Mutation_p.F277L			O75448	MED24_HUMAN	mediator complex subunit 24	290					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGAGCCCCACGAAGCAAGCTT	0.577000													23	21					6.21321e-17	6.61842e-17	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	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	NM_001282387.1	NP_001269316.1	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								22	34					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50100109	50100109	+	Silent	SNP	A	A	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:50100109A>C	ENST00000418929.2	+	4	2529	c.2517A>C	c.(2515-2517)ccA>ccC	p.P839P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	18							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCACCGCCACCCCCGCCTC	0.741000													3	2					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66533685	66533685	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:66533685C>G	ENST00000592554.1	-	11	2281	c.1559G>C	c.(1558-1560)aGt>aCt	p.S520T	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	520						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GACTATGACACTCTGCTGTCC	0.572000													3	30					0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101124220	101124220	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:101124220A>G	ENST00000356713.4	+	5	2364	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S|CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	692					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCTTTGAAAATGGAGCCTTT	0.423000													7	15					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378000													28	64					0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891396	4891396	+	Missense_Mutation	SNP	G	G	C			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:4891396G>C	ENST00000381781.2	-	3	690	c.691C>G	c.(691-693)Cag>Gag	p.Q231E		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	231					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCGTACTGTATGTGGGCA	0.587000													13	31					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408297	47408297	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:47408297C>G	ENST00000398879.1	-	17	2312	c.1946G>C	c.(1945-1947)aGt>aCt	p.S649T	TNS3_ENST00000311160.9_Missense_Mutation_p.S649T|TNS3_ENST00000355730.3_Missense_Mutation_p.S409T			Q68CZ2	TENS3_HUMAN	tensin 3	649						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATGTGGCCCACTGCCTACACC	0.642000													4	174					0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	218471	218471	+	Translation_Start_Site	SNP	A	A	G	rs1061517		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776000									Familial Paragangliomas				11	20					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	33					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64423124	64423124	+	Silent	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr6:64423124C>G	ENST00000262043.3	+	16	5980	c.5640C>G	c.(5638-5640)ggC>ggG	p.G1880G	PHF3_ENST00000393387.1_Silent_p.G1880G			Q92576	PHF3_HUMAN	PHD finger protein 3	1880					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGTATATAGGCCCGCAGAATT	0.507000													12	148					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440295	40440295	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:40440295C>T	ENST00000319592.4	-	4	1325	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.A206T|RBM47_ENST00000295971.7_Missense_Mutation_p.A206T|RBM47_ENST00000514014.1_Missense_Mutation_p.A168T|RBM47_ENST00000381795.6_Missense_Mutation_p.A206T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGGCAGCCGCGCGGTGGCTC	0.667000													4	99					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109616926	109616926	+	Missense_Mutation	SNP	C	C	G			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:109616926C>G	ENST00000338432.7	+	10	1590	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ACACB_ENST00000377854.5_Missense_Mutation_p.L491V|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L491V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	491	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCCATCTTTCTCATGAAGCT	0.562000													14	27					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45895364	45895364	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:45895364G>A	ENST00000418234.2	-	8	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	530	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACAGCAGGGGCCTGCTCCAT	0.687000													12	53					0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349229	26349229	+	Missense_Mutation	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:26349229G>A	ENST00000374280.3	+	1	959	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	31					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTCTCCGCCTGGCATTG	0.657000													28	11					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752393	19752393	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr13:19752393C>T	ENST00000400113.3	-	3	472	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	123					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TACCAGTTTGCGGATCCGGTC	0.517000													4	106					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35183494	35183494	+	Silent	SNP	G	G	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547000													36	97					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172501694	172501694	+	Missense_Mutation	SNP	C	C	T			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:172501694C>T	ENST00000417960.1	+	16	2104	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	ECT2_ENST00000232458.5_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000441497.2_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000392692.3_Missense_Mutation_p.L575F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	544	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCATGCTTTTCTCAAGGTAAT	0.274000													17	22					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560876	210560878	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:210560876_210560878delGAA	ENST00000360351.4	+	7	4488_4490	c.3982_3984delGAA	c.(3982-3984)gaadel	p.E1330del	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_In_Frame_Del_p.E1326del|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1330					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCCTCATGATGAAGAAGAGTTTG	0.537													7	136	---	---	---	---					
CTNNB1	1499	broad.mit.edu	37	3	41275294	41275294	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:41275294delT	ENST00000349496.5	+	9	1740	c.1460delT	c.(1459-1461)cttfs	p.L487fs	CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	487					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCAGTTCGCCTTCACTATGGA	0.493		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				105	166	---	---	---	---					
FBLL1	345630	broad.mit.edu	37	5	167956851	167956853	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:167956851_167956853delGGA	ENST00000338333.4	+	1	731_733	c.342_344delGGA	c.(340-345)gcggag>gcg	p.E115del																								ACCGCGGGGCGGAGGACGCGCTG	0.709													2	4	---	---	---	---					
SGK223	157285	broad.mit.edu	37	8	8234817	8234819	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr8:8234817_8234819delTCA	ENST00000520004.1	-	3	1364_1366	c.1100_1102delTGA	c.(1099-1104)atgaag>aag	p.M367del	SGK223_ENST00000330777.4_In_Frame_Del_p.M367del			Q86YV5	SG223_HUMAN		367							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGGTTCCTTCATGAGGGAGCA	0.680													15	26	---	---	---	---					
KAT6B	23522	broad.mit.edu	37	10	76784946	76784949	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:76784946_76784949delACAA	ENST00000287239.4	+	17	4092_4095	c.3603_3606delACAA	c.(3601-3606)agacaafs	p.RQ1201fs	KAT6B_ENST00000372714.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372711.1_Frame_Shift_Del_p.RQ1018fs|KAT6B_ENST00000372725.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000372724.1_Frame_Shift_Del_p.RQ909fs|KAT6B_ENST00000490365.1_3'UTR	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	1201					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGAAGAAAAGACAAACAGAGGAAG	0.451													14	37	---	---	---	---					
RP11-20E24.1	0	broad.mit.edu	37	12	76993936	76993936	+	RNA	DEL	C	C	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:76993936delC	ENST00000551082.1	+	0	121																											CCACGTGGATCCCATTGAGCT	0.532													2	4	---	---	---	---					
RBBP6	5930	broad.mit.edu	37	16	24567746	24567747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:24567746_24567747insA	ENST00000319715.4	+	7	1084_1085	c.652_653insA	c.(652-654)tatfs	p.Y218fs	RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y218fs|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y218fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACTGGAAAATATGCAATACCA	0.401													14	51	---	---	---	---					
ZACN	353174	broad.mit.edu	37	17	74075804	74075805	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:74075804_74075805insCC	ENST00000334586.5	+	3	327_328	c.244_245insCC	c.(244-246)tccfs	p.S82fs	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	82					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ATACACAATGTCCTCCATGCTG	0.569													21	55	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42797776	42797777	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42797776_42797777delGC	ENST00000572681.2	+	17	6617_6618	c.6549_6550delGC	c.(6547-6552)tggcgcfs	p.R2184fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.R1277fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.R1275fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTCAGACTGGCGCGTCCCTGG	0.649			"""Mis, F, S"""		oligodendroglioma								10	8	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42798989	42798990	+	Frame_Shift_Ins	INS	-	-	A	rs148444899		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42798989_42798990insA	ENST00000572681.2	+	21	7259_7260	c.7191_7192insA	c.(7192-7194)gccfs	p.A2398fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.A1492fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1490fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCCACAGCCGCCTTCCAGGC	0.574			"""Mis, F, S"""		oligodendroglioma								8	71	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	4	---	---	---	---					
