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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													10	190					0	0	1	0	0
AGK	55750	broad.mit.edu	37	7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.E167V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CTCTTTGCCGAAAGTGGAAAC	0.443000													68	321					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14628823	14628823	+	Splice_Site	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:14628823G>T	ENST00000544627.1	+	11	3206		c.e11-1		ATF7IP_ENST00000536444.1_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.?(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTTTTTCAGTGTGGAAAAG	0.363000													18	101					2.94398e-08	3.53278e-08	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	24	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.E24D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCTCTGAGGCGGACAGAG	0.577000													4	109					0.00024832	0.000283794	1	1	0
OR6K2	81448	broad.mit.edu	37	1	158669837	158669837	+	Silent	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:158669837G>T	ENST00000359610.2	-	1	649	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483000													31	194					3.62531e-18	4.46192e-18	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C354Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTCAGGAGTGCAACTTGGAT	0.418000													38	209					0	0	1	0	0
ATG5	9474	broad.mit.edu	37	6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378000													42	234					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69740133	69740133	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:69740133G>A	ENST00000260363.4	+	23	2987	c.2870G>A	c.(2869-2871)cGc>cAc	p.R957H	KIF23_ENST00000537891.1_Missense_Mutation_p.R670H|KIF23_ENST00000352331.4_Missense_Mutation_p.R853H|KIF23_ENST00000395392.2_Missense_Mutation_p.R949H|KIF23_ENST00000558585.1_Missense_Mutation_p.R670H|KIF23_ENST00000559279.1_Missense_Mutation_p.R853H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	957					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.R957H(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTTTTAGGCGCAAAAAGCCA	0.398000													4	217					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186915867	186915867	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:186915867G>A	ENST00000367466.3	+	11	1284	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V318I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	378	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.V378I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GGGAACAGTCGTTAAGAAGTA	0.338000													21	117					0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93600428	93600428	+	Silent	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:93600428A>G	ENST00000371627.4	+	14	2017	c.1638A>G	c.(1636-1638)ctA>ctG	p.L546L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	546					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.L546L(2)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATATCTGCTACAGCATGGAG	0.433000													7	330					0	0	1	0	0
CD79B	0	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000392795.3_Silent_p.S72S|CD79B_ENST00000349817.2_Intron	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567000			"""Mis, O"""		DLBCL								12	88					0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:67196653G>A	ENST00000312629.5	+	3	227	c.182G>A	c.(181-183)cGc>cAc	p.R61H	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	61					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	p.R61H(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGAGCGCATCGGGCCC	0.622000													4	192					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102051147	102051147	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:102051147C>T	ENST00000318222.3	-	12	2300	c.1918G>A	c.(1918-1920)Gcc>Acc	p.A640T	PKD2L1_ENST00000338519.3_Missense_Mutation_p.A565T|PKD2L1_ENST00000353274.3_Missense_Mutation_p.A640T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	640					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.A640T(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGAAGGTGGCCGTGAGCTCA	0.507000													4	168					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701741	150701741	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr5:150701741C>T	ENST00000335244.4	-	9	1175	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SLC36A2_ENST00000450886.1_Missense_Mutation_p.G73D|SLC36A2_ENST00000521967.1_Missense_Mutation_p.G349D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	349					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.G349D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAGGATGCCGGCAATGTA	0.562000													3	80					0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:149040066C>A	ENST00000296059.2	-	5	833	c.568G>T	c.(568-570)Gga>Tga	p.G190*	TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	190						integral to membrane		p.G190*(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATAGCTTCCACACAGTATC	0.428000													3	83					0.004672	0.00521526	1	1	0
C6orf165	154313	broad.mit.edu	37	6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:88138375C>G	ENST00000507897.1	+	9	1075	c.992C>G	c.(991-993)aCc>aGc	p.T331S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	331								p.T331S(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGTGGACCAGCTTGCAA	0.368000													35	346					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:59515931C>T	ENST00000038176.3	-	13	1095	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	295	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.E295K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCAGTGTGCTCCGCCACATGG	0.552000													23	106					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23901077	23901077	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr14:23901077C>T	ENST00000355349.3	-	7	694	c.530_splice	c.e7-1	p.G178_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	178	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G178R(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGGATTCTCCGCTGTGAAGA	0.547000													22	92					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42302442	42302442	+	Missense_Mutation	SNP	G	G	A	rs147661133	by1000genomes	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:42302442G>A	ENST00000413860.2	-	1	3	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACTTGGCGCGCATGATTTGA	0.507000													4	192					0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2896330	2896330	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:2896330G>A	ENST00000380698.4	-	3	352	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	88					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.T88M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTGTTGGCCGTTCTCAGCAG	0.443000													6	206					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	52					0	0	1	0	0
PARVB	29780	broad.mit.edu	37	22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:44527372C>G	ENST00000338758.6	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	128	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.L161V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGAAAAACTGGCAGGGTG	0.542000													7	78					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:99441785C>A	ENST00000354829.2	+	4	341	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	80			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.P80T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGGGCAACAGCCCATGCTGGT	0.458000													4	82					0.00909568	0.00992256	1	1	0
GRID2	2895	broad.mit.edu	37	4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	170					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I170V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAATTCATTATATTCTATGA	0.353000													4	347					0	0	1	0	0
SQRDL	58472	broad.mit.edu	37	15	45965849	45965849	+	Silent	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:45965849G>T	ENST00000260324.7	+	5	890	c.504G>T	c.(502-504)tcG>tcT	p.S168S	RP11-96O20.4_ENST00000564080.1_Silent_p.S168S|SQRDL_ENST00000568606.1_Silent_p.S168S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	168							oxidoreductase activity	p.S168S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AAATAGGGTCGAATTATTCAG	0.398000													60	278					4.13886e-29	5.22803e-29	1	1	0
AGK	55750	broad.mit.edu	37	7	141315346	141315346	+	Nonsense_Mutation	SNP	G	G	T	rs141323107		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315346G>T	ENST00000355413.4	+	8	759	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	AGK_ENST00000535825.1_Nonsense_Mutation_p.E164*|AGK_ENST00000473247.1_Nonsense_Mutation_p.E139*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.E167*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCTCTTTGCCGAAAGTGGAAA	0.443000													64	323					7.75977e-34	1.00667e-33	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814788	242814788	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr2:242814788G>T	ENST00000343216.3	+	2	1109	c.1081G>T	c.(1081-1083)Gtg>Ttg	p.V361L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	361						integral to membrane		p.V361L(1)									CGATGGCCCTGTGGCCACTAA	0.622000													4	41					5.18039e-06	6.06485e-06	1	1	0
CRLF3	51379	broad.mit.edu	37	17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	388					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		p.T388P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTTCCTAGAGTCACGGCTTCA	0.388000													3	137					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678351	87678351	+	Silent	SNP	C	C	T	rs144950183	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr16:87678351C>T	ENST00000284262.2	+	2	1112	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.G290G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCTACGTGGGCGAGTGGAAGA	0.672000													4	90					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117282579	117282579	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:117282579G>A	ENST00000278935.3	+	32	4379	c.4232G>A	c.(4231-4233)gGc>gAc	p.G1411D	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1411					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCTTTCAGGGCATAATTGAG	0.592000													4	128					0	0	1	0	0
MIR509-3	0	broad.mit.edu	37	X	146341191	146341191	+	RNA	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chrX:146341191C>T	ENST00000390725.1	-	0	53					NR_030629.1																						TACCCACAGACGTACCAATCA	0.463000													81	126					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:55028287G>A	ENST00000240316.4	-	2	350	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	106						Cajal body|nucleolus	protein C-terminus binding	p.L106F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GCTTTTCTAAGAGATAAATTA	0.378000													4	230					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:1019457G>A	ENST00000421673.2	-	30	3898	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1283	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.T1283I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCCTGATGTGGCTTGTGG	0.642000													5	188					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73270958	73270958	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:73270958C>A	ENST00000224721.6	+	5	423	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	CDH23_ENST00000398809.4_Missense_Mutation_p.R140S|CDH23_ENST00000299366.7_Missense_Mutation_p.R185S|CDH23_ENST00000398842.3_Missense_Mutation_p.R140S|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.R185S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	140	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R140S(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACAGCGTCCGCATCCCTGA	0.572000													3	57					0.115264	0.120275	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	115					0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125597387	125597387	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:125597387C>T	ENST00000518547.1	-	6	874	c.401G>A	c.(400-402)cGc>cAc	p.R134H	MTSS1_ENST00000325064.5_Missense_Mutation_p.R134H|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134H	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363000													57	305					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35600381	35600381	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:35600381C>T	ENST00000353139.5	-	22	3318	c.2837G>A	c.(2836-2838)cGc>cAc	p.R946H	ACACA_ENST00000360679.3_Missense_Mutation_p.R851H|ACACA_ENST00000335166.5_Missense_Mutation_p.R831H|ACACA_ENST00000394406.2_Missense_Mutation_p.R909H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	909					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R851H(1)|p.R946H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGGGGAATGCGGCCAGACAC	0.473000													6	475					0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:31133925C>G	ENST00000538351.1	-	8	3059	c.2305G>C	c.(2305-2307)Gga>Cga	p.G769R	ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G818R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCGATCACTCCCTGGTTGGAG	0.542000													80	364					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156568875	156568875	+	Translation_Start_Site	SNP	G	G	T			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:156568875G>T	ENST00000368232.4	-	0	96				GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame|GPATCH4_ENST00000438976.2_Intron	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4							intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTCACCAGAGAAGAAGAG	0.448000													3	71					1	1	1	1	0
SDHAP1	0	broad.mit.edu	37	3	195717077	195717078	+	RNA	INS	-	-	GCGCCAG	rs55821214		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:195717077_195717078insGCGCCAG	ENST00000427841.1	-	0	72_73					NR_003264.2																						GGCCAGCGCCAGCGCCAGGCGC	0.782													3	4	---	---	---	---					
BMP2K	55589	broad.mit.edu	37	4	79792164	79792166	+	In_Frame_Del	DEL	CAC	CAC	-	rs5859657		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:79792164_79792166delCAC	ENST00000335016.5	+	11	1625_1627	c.1459_1461delCAC	c.(1459-1461)del	p.H494del	BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	494	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcaccaccaccacc	0.502													8	68	---	---	---	---					
SAPCD1-AS1	0	broad.mit.edu	37	6	31733214	31733215	+	RNA	INS	-	-	A	rs141140500	by1000genomes	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:31733214_31733215insA	ENST00000419679.1	-	0	50																											aactacatctcaaaaaaaaaac	0.485													2	4	---	---	---	---					
RP3-473L9.4	0	broad.mit.edu	37	12	111837697	111837698	+	RNA	INS	-	-	AGAA			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:111837697_111837698insAGAA	ENST00000552663.1	+	0	141																											aagactctgtcAgaaagaaaga	0.515													2	4	---	---	---	---					
LINC00669	0	broad.mit.edu	37	18	37248401	37248401	+	RNA	DEL	G	G	-			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr18:37248401delG	ENST00000591629.1	-	0	282					NR_024391.1																						aaggaaggaaggaaagaagga	0.463													2	4	---	---	---	---