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
ASB5	140458	broad.mit.edu	37	4	177142709	177142709	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:177142709C>T	ENST00000296525.3	-	4	540	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ASB5_ENST00000512254.1_Missense_Mutation_p.A90T|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	143					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGGAGCATGCGTTGAATAAC	0.483000													3	62					0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153317834	153317834	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:153317834G>A	ENST00000368739.3	-	4	510	c.152C>T	c.(151-153)aCg>aTg	p.T51M	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T55M|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	55					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T55M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGAGAGACCGTGGTGGAGAC	0.587000													22	55					0	0	1	0	0
ZFAND3	60685	broad.mit.edu	37	6	38120150	38120150	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr6:38120150G>A	ENST00000287218.4	+	6	1116	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFAND3_ENST00000373391.2_Silent_p.G201G|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	223							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AGCGCATCGGGGAGGGGTGCT	0.567000													4	100					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43439576	43439576	+	RNA	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:43439576C>T	ENST00000446844.3	-	0	499				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAAGGTGAAACGTCCAGTTAC	0.507000													59	232					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56335069	56335069	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	379	DAGKc.			V -> L (in Ref. 2; AAC34802).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.V379I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACTTCTCGTCTTTGTCAA	0.493000													25	84					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10209888	10209888	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10209888C>T	ENST00000418404.3	-	36	5517	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1785					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCTTCATCCGCTCCAGGTG	0.572000													34	108					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	56					0	0	1	0	0
KLF5	688	broad.mit.edu	37	13	73649880	73649880	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr13:73649880C>T	ENST00000377687.4	+	4	1766	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KLF5_ENST00000539231.1_Silent_p.C319C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	410					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGGAAGGCTGCGACTGGAGGT	0.572000													20	99					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006353	16006353	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597000													4	158					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706000													3	23					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													4	99					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56686955	56686955	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:56686955G>A	ENST00000558083.2	+	8	856	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	TEX9_ENST00000561221.2_Missense_Mutation_p.E251K|TEX9_ENST00000352903.2_Missense_Mutation_p.E251K|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K|TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|RP11-48G14.2_ENST00000564401.1_lincRNA			Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303000													15	27					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	37					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35320290	35320290	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:35320290G>A	ENST00000374748.1	-	15	1637	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000374746.1_Missense_Mutation_p.R442C			Q13617	CUL2_HUMAN	cullin 2	442					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGAATTAAACGTTTTGCCAGC	0.303000													8	20					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10216566	10216566	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10216566C>T	ENST00000418404.3	-	29	4253	c.4090G>A	c.(4090-4092)Gcg>Acg	p.A1364T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1364					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGGACAGCGCCCTCTGCAGC	0.637000													40	131					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464148	33464148	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464148T>A	ENST00000442241.4	-	7	739	c.700A>T	c.(700-702)Act>Tct	p.T234S	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGGCCTGCAGTTGTGTCCCAG	0.632000													8	35					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463000													14	31					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47282968	47282968	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:47282968C>T	ENST00000467728.1	+	4	1914	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGTGTAACCGGCGCTCCTT	0.627000													7	36					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178559266	178559266	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:178559266A>T	ENST00000251582.7	-	15	2356	c.2255T>A	c.(2254-2256)cTc>cAc	p.L752H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	752	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCCTGAATGAGCAGGTGTCT	0.527000													5	37					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175891	140175891	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:140175891G>A	ENST00000526136.1	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.647000													21	82					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346491	23346491	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr14:23346491A>G	ENST00000359591.4	+	7	2588	c.1897A>G	c.(1897-1899)Act>Gct	p.T633A	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	633	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCCCCCACTACTGTCCCTGA	0.672000													31	108					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41990468	41990468	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:41990468C>A	ENST00000372584.1	-	5	6335	c.5321G>T	c.(5320-5322)cGc>cTc	p.R1774L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1774L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1774	ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTGTGGGTGCGGATGTGTTT	0.537000													3	73					0.004672	0.004672	1	1	0
ZCCHC12	170261	broad.mit.edu	37	X	117960276	117960276	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:117960276A>G	ENST00000310164.2	+	4	1576	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGCCACTCAAAAGAAACCTG	0.488000													3	37					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40903766	40903766	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:40903766G>A	ENST00000324001.7	-	7	763	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	165	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACGCAGGCGGGAGAACTTG	0.662000													4	12					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462502	17462502	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr20:17462502G>A	ENST00000262545.2	+	12	2019	c.1704G>A	c.(1702-1704)tgG>tgA	p.W568*	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	568					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGGCACCTGGACCCTGGAGC	0.632000													12	30					0	0	1	0	0
OR7G1	125962	broad.mit.edu	37	19	9226075	9226075	+	Missense_Mutation	SNP	C	C	T	rs140073167	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:9226075C>T	ENST00000293614.1	-	1	364	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR7G1_ENST00000541538.1_Missense_Mutation_p.R122H			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCCACATAGCGGTCGTAGGC	0.483000													14	70					0	0	1	0	0
CCSER1	401145	broad.mit.edu	37	4	91230726	91230726	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:91230726A>G	ENST00000509176.1	+	2	1579	c.1291A>G	c.(1291-1293)Aca>Gca	p.T431A	CCSER1_ENST00000432775.2_Missense_Mutation_p.T431A|CCSER1_ENST00000333691.8_Missense_Mutation_p.T431A	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		TTTTAACAAAACATCACATGG	0.299000													9	38					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7495728	7495728	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:7495728C>T	ENST00000399429.3	-	16	1458	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	440					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGGGTCCCACAGGTCCTATA	0.428000													5	24					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947854	237947854	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:237947854C>T	ENST00000366574.2	+	90	13159	c.12842C>T	c.(12841-12843)aCg>aTg	p.T4281M	RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4281					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)			GACATGGTCACGGCCTTCTTT	0.458000													6	35					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640404	21640404	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:21640404C>T	ENST00000328843.6	+	16	3142	c.3111C>T	c.(3109-3111)caC>caT	p.H1037H	DNAH11_ENST00000409508.3_Silent_p.H1037H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1037	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAGACCCACACTTACCTCT	0.453000									Kartagener syndrome				27	171					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127641280	127641280	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:127641280T>A	ENST00000508053.1	-	50	6571	c.5597A>T	c.(5596-5598)gAc>gTc	p.D1866V	FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V			P35556	FBN2_HUMAN	fibrillin 2	1866	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTGATGCAGTCTGCATTCCG	0.438000													4	67					0	0	1	0	0
SULT1B1	27284	broad.mit.edu	37	4	70620861	70620861	+	Silent	SNP	T	T	C			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:70620861T>C	ENST00000310613.3	-	2	372	c.75A>G	c.(73-75)gcA>gcG	p.A25A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCCAGTTGCTTGCAAAAGCAC	0.388000													23	95					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299212	125299212	+	Silent	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:125299212G>T	ENST00000538699.1	-	2	776	c.696C>A	c.(694-696)gcC>gcA	p.A232A	DCAF12L2_ENST00000360028.2_Silent_p.A232A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	232										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCTGTGCCAGGCAATGCTGC	0.637000													14	20					3.27435e-08	3.49634e-08	1	1	0
SLCO4C1	353189	broad.mit.edu	37	5	101631621	101631621	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:101631621C>T	ENST00000310954.6	-	1	632	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	116					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTTGCGTGACGGCCAAGAGG	0.642000													5	18					0	0	1	0	0
INSIG2	51141	broad.mit.edu	37	2	118854303	118854303	+	Silent	SNP	C	C	T	rs138954785		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:118854303C>T	ENST00000245787.4	+	2	377	c.171C>T	c.(169-171)ctC>ctT	p.L57L	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	57					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATGTGACGCTCTTTCCACCTG	0.413000													4	99					0	0	1	0	0
GPIHBP1	338328	broad.mit.edu	37	8	144297321	144297321	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:144297321C>T	ENST00000330824.2	+	4	558	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	161					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGCAGCTCCGAAACTGTGG	0.701000													10	29					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169615	207169615	+	Silent	SNP	T	T	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:207169615T>A	ENST00000374423.3	+	5	749	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCCAGACCTCATAAATCTC	0.453000													3	23					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102647101	102647101	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:102647101G>A	ENST00000279441.4	-	6	878	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCAGATCCCGAAGGAACAGA	0.478000													16	59					0	0	1	0	0
C2orf78	388960	broad.mit.edu	37	2	74042529	74042529	+	Silent	SNP	C	C	T	rs143445466	by1000genomes	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:74042529C>T	ENST00000409561.1	+	3	1300	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	393										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAGAAATCCCCGATATTCACC	0.448000													7	33					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33564344	33564344	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:33564344C>T	ENST00000321505.4	+	1	524	c.344C>T	c.(343-345)gCg>gTg	p.A115V	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.A115V|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.A115V					KIAA1549-like																		ACAGAAACAGCGACCCATGAG	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113141771	113141771	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:113141771C>T	ENST00000401783.2	-	44	10600	c.10264G>A	c.(10264-10266)Gta>Ata	p.V3422I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3422	Sushi 34.				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						GCATTTTCTACGTGAGCTGGT	0.413000													8	23					0	0	1	0	0
SSX6	280657	broad.mit.edu	37	X	47978955	47978955	+	RNA	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:47978955G>A	ENST00000509958.1	+	0	104																				large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						CACAGACTGCGTGAGAGAAAG	0.512000													66	90					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													4	71					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs112443847		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716000													3	24					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189586471	189586471	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000392460.3_Silent_p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCAAGTTTCGGACAGTACAA	0.532000										HNSCC(45;0.13)			16	59					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464147	33464147	+	Translation_Start_Site	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464147G>T	ENST00000586869.1	-	0	844				NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000442241.4_Missense_Mutation_p.T234N			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)							nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGGCCTGCAGTTGTGTCCCA	0.637000													8	36					0.00307968	0.00312935	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158648254	158648254	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:158648254C>T	ENST00000368147.4	-	6	929	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R250H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAAACCACGAAGGCGCTC	0.438000													17	46					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79432471	79432471	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:79432471G>T	ENST00000264895.6	+	64	10264	c.9824G>T	c.(9823-9825)tGt>tTt	p.C3275F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3270					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATGTGCGTTGTGTGGCCAAG	0.507000													8	79					4.68919e-08	4.92365e-08	1	1	0
SPG11	80208	broad.mit.edu	37	15	44949465	44949465	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:44949465C>T	ENST00000261866.7	-	4	713	c.697G>A	c.(697-699)Gta>Ata	p.V233I	SPG11_ENST00000535302.2_Missense_Mutation_p.V233I|SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	233					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACATGAGCTACATATGTACCA	0.363000													8	32					0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9887569	9887569	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr18:9887569G>A	ENST00000357775.5	+	2	1127	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000306084.6_Missense_Mutation_p.E365K	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.567000													33	89					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178947865	178947865	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:178947865G>A	ENST00000263967.3	+	19	2897	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	914	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTGGGAATTGGAGATCGTCA	0.358000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			34	133					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31374348	31374348	+	Silent	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677000													31	76					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr21:45547815C>T	ENST00000291576.7	+	18	2270	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTTCCCAGGGCGCTGCTGGGC	0.478000													12	37					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41791277	41791277	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:41791277C>A	ENST00000396930.3	-	18	5004	c.4461G>T	c.(4459-4461)caG>caT	p.Q1487H	KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1487H|KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1487H	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1487					histone H3 acetylation|myeloid cell differentiation|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 coactivator activity|transcription factor binding|zinc ion binding										TGGGGTGAGACTGAACGGAGG	0.567000													10	56					2.17888e-05	2.25032e-05	1	1	0
WDR93	56964	broad.mit.edu	37	15	90246288	90246288	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:90246288G>A	ENST00000268130.7	+	3	512	c.411G>A	c.(409-411)gcG>gcA	p.A137A	WDR93_ENST00000560294.1_Silent_p.A137A|WDR93_ENST00000558000.1_Silent_p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	137					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAATATATGCGTGGGAGAAGC	0.393000													29	87					0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14095349	14095349	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:14095349G>C	ENST00000261643.3	+	6	816	c.739G>C	c.(739-741)Gga>Cga	p.G247R	COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	247					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGCTGTTCCGGGAGTTGCCAT	0.498000													18	65					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													4	63					0	0	1	0	0
RCHY1	25898	broad.mit.edu	37	4	76419364	76419364	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:76419364delG	ENST00000324439.5	-	4	750	c.352delC	c.(352-354)catfs	p.H118fs	RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	118					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAAACAATGGAAAAAATCT	0.279													2	4	---	---	---	---					
SPATA31D5P	347127	broad.mit.edu	37	9	84528568	84528568	+	RNA	DEL	A	A	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:84528568delA	ENST00000527857.1	+	0	217					NR_026851.1																						AATGATATCCAAAAGGTAAGG	0.398													3	3	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													8	22	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102312241	102312241	+	RNA	DEL	A	A	-	rs59860046		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:102312241delA	ENST00000561463.1	+	0	13609																											AGTGGCCGGGAAATTTGCTGT	0.592													5	10	---	---	---	---					
COTL1	23406	broad.mit.edu	37	16	84651477	84651477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:84651477delT	ENST00000262428.4	-	1	206	c.44delA	c.(43-45)aacfs	p.N15fs	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	15	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GCGCACCAGGTTGTACGCCGC	0.726													2	4	---	---	---	---					
LOC100288866	100288866	broad.mit.edu	37	17	47594374	47594374	+	RNA	DEL	G	G	-			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:47594374delG	ENST00000514506.1	-	0	246					NR_103773.1																						ctgaaatcaaggaggaagcat	0.582													2	4	---	---	---	---					
