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
FLT3	2322	broad.mit.edu	37	13	28589748	28589748	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:28589748G>A	ENST00000380982.4	-	21	2722	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	FLT3_ENST00000537084.1_Silent_p.L837L|FLT3_ENST00000241453.7_Silent_p.L878L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	878	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTCCCACAGTAATATTCCA	0.542000			"""Mis, O"""		"""AML, ALL"""								21	29					0	0	0.062417	0	0
ASTN2	23245	broad.mit.edu	37	9	119976807	119976807	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:119976807A>T	ENST00000313400.4	-	3	945	c.845T>A	c.(844-846)gTg>gAg	p.V282E	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.V282E|ASTN2_ENST00000361209.2_Missense_Mutation_p.V282E			O75129	ASTN2_HUMAN	astrotactin 2	282						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGGATGGGCACGCCAATGAC	0.602000													7	36					0	0	0.038147	0	0
CEP170	9859	broad.mit.edu	37	1	243388581	243388581	+	Translation_Start_Site	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:243388581A>G	ENST00000366542.1	-	2	53	c.2T>C	c.(1-3)aTg>aCg	p.M1T	AC092782.1_ENST00000596590.1_Intron|CEP170_ENST00000366543.1_Start_Codon_SNP_p.M1T|CEP170_ENST00000366544.1_Start_Codon_SNP_p.M1T	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGTTAAGCTCATTTTCTGCTT	0.413000													3	10					0	0	0.004672	0	0
FAM46D	169966	broad.mit.edu	37	X	79698533	79698533	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chrX:79698533C>T	ENST00000538312.1	+	5	829	c.495C>T	c.(493-495)ctC>ctT	p.L165L	FAM46D_ENST00000308293.5_Silent_p.L165L	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	165										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TGAGTTCACTCAGACGGCAGT	0.368000													15	29					0	0	0.020292	0	0
CACNA1C	775	broad.mit.edu	37	12	2717687	2717687	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:2717687C>T	ENST00000399655.1	+	27	3632	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C	CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1148C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1143C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1143C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R1123C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1123C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1123C	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1143	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.R1123G(1)|p.R658G(1)|p.R1173G(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCTGCTGTACCGCTCCATCGA	0.577000													4	16					0	0	0.009096	0	0
LONP1	9361	broad.mit.edu	37	19	5700888	5700888	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:5700888T>C	ENST00000360614.3	-	9	1575	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	LONP1_ENST00000593119.1_Missense_Mutation_p.Y409C|LONP1_ENST00000540670.2_Missense_Mutation_p.Y277C|LONP1_ENST00000590729.1_Missense_Mutation_p.Y343C|LONP1_ENST00000585374.1_Missense_Mutation_p.Y359C	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	473					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTTGCTGTACTTGCCCCA	0.607000													24	73					0	0	0.091800	0	0
ZNF831	128611	broad.mit.edu	37	20	57769698	57769698	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:57769698G>A	ENST00000371030.2	+	1	3624	c.3624G>A	c.(3622-3624)gcG>gcA	p.A1208A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1208						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTACTTGGCGGTGCACTTTC	0.642000													10	18					0	0	0.058154	0	0
SPERT	220082	broad.mit.edu	37	13	46287473	46287473	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:46287473C>T	ENST00000378966.3	+	2	621	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	SPERT_ENST00000310521.1_Missense_Mutation_p.R105C			Q8NA61	SPERT_HUMAN	spermatid associated	105						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCCCATGGAGCGCCCCATGTC	0.667000													26	48					0	0	0.108266	0	0
ROCK1	6093	broad.mit.edu	37	18	18629142	18629142	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr18:18629142T>C	ENST00000399799.1	-	4	1265	c.325A>G	c.(325-327)Aaa>Gaa	p.K109E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	109	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATTTCAAATTTGCTGAGAAGC	0.363000													12	75					0	0	0.093190	0	0
OR2T11	127077	broad.mit.edu	37	1	248790246	248790246	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:248790246G>T	ENST00000330803.2	-	1	245	c.184C>A	c.(184-186)Cag>Aag	p.Q62K		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGACAGCTGACTGAGCAGA	0.488000													12	32					3.07112e-06	3.36642e-06	0.080935	1	0
LOC645752	645752	broad.mit.edu	37	15	78211410	78211410	+	RNA	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:78211410C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GCACCCTCTGCGCCTCCTGCT	0.587000													24	61					0	0	0.091800	0	0
NDN	4692	broad.mit.edu	37	15	23931748	23931748	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:23931748C>G	ENST00000331837.4	-	1	702	c.617G>C	c.(616-618)aGa>aCa	p.R206T		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	206	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGCGCTCTCTCTGGCGCCGCG	0.652000									Prader-Willi syndrome				4	39					0	0	0.014758	0	0
UBXN6	80700	broad.mit.edu	37	19	4446549	4446549	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:4446549C>A	ENST00000301281.6	-	8	992	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	UBXN6_ENST00000394765.3_Missense_Mutation_p.G237W	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	290						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						AAGAAGTCCCCAGGCAGTTCG	0.682000													6	25					2.0095e-06	2.2241e-06	0.029380	1	0
ZFYVE9	9372	broad.mit.edu	37	1	52810541	52810541	+	Silent	SNP	C	C	G	rs145347233		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:52810541C>G	ENST00000287727.3	+	18	4213	c.4041C>G	c.(4039-4041)ctC>ctG	p.L1347L	ZFYVE9_ENST00000371591.1_Silent_p.L1347L|ZFYVE9_ENST00000357206.2_Silent_p.L1288L	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1347					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCCTTGCTCTCTGTCCTCACC	0.453000													33	70					0	0	0.041601	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806706	27806706	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:27806706C>T	ENST00000606613.1	+	1	328	c.267C>T	c.(265-267)acC>acT	p.T89T	HIST1H2BN_ENST00000396980.3_Silent_p.T89T			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	89					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGCGCTCGACCATCACCTCCA	0.637000													20	94					0	0	0.069288	0	0
BPI	671	broad.mit.edu	37	20	36932638	36932638	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:36932638C>A	ENST00000262865.4	+	1	114	c.25C>A	c.(25-27)Cct>Act	p.P9T	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	9					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GGCCAGGGGCCCTTGCAACGC	0.607000													33	73					1.22384e-17	1.43832e-17	0.054565	1	0
BFSP2	8419	broad.mit.edu	37	3	133119364	133119364	+	Missense_Mutation	SNP	G	G	T	rs148759360		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:133119364G>T	ENST00000302334.2	+	1	526	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	146	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AAAGCCACACGCTCGGGAAAC	0.617000													6	18					5.9392e-07	6.63793e-07	0.021553	1	0
RGS12	6002	broad.mit.edu	37	4	3424168	3424168	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:3424168C>T	ENST00000336727.3	+	11	3808	c.2904C>T	c.(2902-2904)ctC>ctT	p.L968L	RGS12_ENST00000344733.5_Silent_p.L968L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Silent_p.L366L|RGS12_ENST00000538395.1_Silent_p.L310L|RGS12_ENST00000338806.4_Silent_p.L320L|RGS12_ENST00000382788.3_Silent_p.L968L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	968	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCATTCATCTCCCGGATGGGA	0.627000													10	17					0	0	0.069234	0	0
MAP2	4133	broad.mit.edu	37	2	210559034	210559034	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:210559034C>G	ENST00000360351.4	+	7	2646	c.2140C>G	c.(2140-2142)Ctt>Gtt	p.L714V	MAP2_ENST00000447185.1_Missense_Mutation_p.L710V|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	714					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.L714I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTCCATAGCCCTTGGATTTAA	0.443000													46	75					0	0	0.048971	0	0
RADIL	55698	broad.mit.edu	37	7	4874238	4874238	+	Splice_Site	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:4874238C>T	ENST00000399583.3	-	4	1603	c.1416_splice	c.e4+1	p.W472_splice	RADIL_ENST00000536091.1_Splice_Site_p.W472_splice|RADIL_ENST00000538469.1_Splice_Site_p.W232_splice	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	472					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCACACTGACCCAGACAGTCT	0.682000													3	10					0	0	0.009096	0	0
LRRC19	64922	broad.mit.edu	37	9	26997861	26997861	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:26997861C>A	ENST00000380055.5	-	3	570	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C	IFT74_ENST00000429045.2_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000433700.1_Intron|IFT74_ENST00000443698.1_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	154						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		ATCAAATTGCCTTGCAGATTC	0.323000													16	36					4.14922e-12	4.82664e-12	0.028581	1	0
ZNF134	7693	broad.mit.edu	37	19	58131571	58131571	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:58131571G>A	ENST00000396161.5	+	3	394	c.84G>A	c.(82-84)caG>caA	p.Q28Q	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	28						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTTCTGAACAGAGCATTTCTA	0.453000													34	49					0	0	0.050027	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885018	88885018	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr8:88885018G>A	ENST00000319675.3	-	1	1278	c.1182C>T	c.(1180-1182)taC>taT	p.Y394Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	394										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAATTAACCGTAGGAGAAAC	0.502000													19	22					0	0	0.038395	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169147	60169147	+	Silent	SNP	T	T	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:60169147T>G	ENST00000261187.4	+	4	1235	c.1071T>G	c.(1069-1071)gtT>gtG	p.V357V	SLC16A7_ENST00000547379.1_Silent_p.V357V|SLC16A7_ENST00000552024.1_Silent_p.V357V|SLC16A7_ENST00000552432.1_Silent_p.V357V|SLC16A7_ENST00000543448.1_Silent_p.V258V	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	357						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTAGCAGTGTTCTCTTTGAAA	0.498000													18	70					0	0	0.038395	0	0
CLIC5	53405	broad.mit.edu	37	6	45882035	45882035	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:45882035C>T	ENST00000185206.6	-	5	1147	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CLIC5_ENST00000486570.1_5'UTR|CLIC5_ENST00000339561.6_Missense_Mutation_p.R173H|CLIC5_ENST00000544153.1_Missense_Mutation_p.R173H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	332	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAGGAACTTGCGCCGGGACCC	0.557000													13	48					0	0	0.105934	0	0
CREBBP	1387	broad.mit.edu	37	16	3801777	3801777	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:3801777C>G	ENST00000262367.5	-	20	4538	c.3729G>C	c.(3727-3729)gaG>gaC	p.E1243D	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1205D	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1243	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCCCTGGATCTCTGTGAAAC	0.522000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						7	24					0	0	0.029380	0	0
SGIP1	84251	broad.mit.edu	37	1	67147692	67147692	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:67147692T>A	ENST00000371037.4	+	15	1032	c.955T>A	c.(955-957)Tcc>Acc	p.S319T	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.S323T	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TTCTGATACATCCCCGGAACA	0.507000													33	74					0	0	0.045705	0	0
LRRC58	116064	broad.mit.edu	37	3	120053938	120053938	+	Nonsense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120053938A>C	ENST00000295628.3	-	3	773	c.678T>G	c.(676-678)taT>taG	p.Y226*		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	226										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CTCGAGGCAGATATGTCAGCA	0.363000													7	37					0	0	0.029380	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998417	46998417	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46998417G>A	ENST00000599531.1	-	1	1338	c.306C>T	c.(304-306)gtC>gtT	p.V102V	PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.R176R|PNMAL2_ENST00000377655.2_Silent_p.V102V	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	102										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCTGCCTCAGGACCCTCGTGT	0.677000													27	169					0	0	0.030593	0	0
GNAO1	2775	broad.mit.edu	37	16	56309938	56309938	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:56309938G>A	ENST00000262494.7	+	3	517	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	GNAO1_ENST00000262493.6_Missense_Mutation_p.R86Q	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	86					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCCATCGTCCGGGCCATGGAC	0.517000													15	35					0	0	0.028581	0	0
CSMD2	114784	broad.mit.edu	37	1	34033207	34033207	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:34033207G>T	ENST00000373381.4	-	53	8542	c.8366C>A	c.(8365-8367)aCc>aAc	p.T2789N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2766	Sushi 19.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACAGAAAGGGGTCTTGCCCGA	0.527000													10	32					4.68919e-08	5.39967e-08	0.069234	1	0
PZP	5858	broad.mit.edu	37	12	9334673	9334673	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:9334673G>A	ENST00000261336.2	-	14	1615	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	PZP_ENST00000381997.2_Silent_p.D398D	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGGGGGCAACGTCTGACTCCA	0.413000													11	37					0	0	0.080935	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730126	53730126	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:53730126C>T	ENST00000262135.4	-	3	260	c.167G>A	c.(166-168)cGt>cAt	p.R56H	RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R56H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R56H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	56					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCATGCAAACGCAAAAATCT	0.398000													61	78					0	0	0.048971	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7670885	7670885	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:7670885G>A	ENST00000299492.4	+	21	2509	c.2121_splice	c.e21+1	p.E707_splice	PPFIBP2_ENST00000533792.1_Splice_Site_p.E549_splice|PPFIBP2_ENST00000528883.1_Splice_Site_p.E595_splice|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Splice_Site_p.E564_splice	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	707					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	p.E707D(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGCTGATGAGGTGAGACCAC	0.498000													20	180					0	0	0.069288	0	0
CD68	968	broad.mit.edu	37	17	7483866	7483866	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7483866C>T	ENST00000250092.6	+	3	861	c.650C>T	c.(649-651)tCa>tTa	p.S217L	CD68_ENST00000380498.6_Missense_Mutation_p.S190L	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	217						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CTGCTTCTCTCATTCCCCTAT	0.577000													9	80					0	0	0.047766	0	0
CDC42	998	broad.mit.edu	37	1	22413014	22413014	+	Silent	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:22413014A>G	ENST00000344548.3	+	5	512	c.261A>G	c.(259-261)ccA>ccG	p.P87P	CDC42_ENST00000421089.2_Silent_p.P129P|CDC42_ENST00000400259.1_Silent_p.P87P|CDC42_ENST00000315554.8_Silent_p.P87P|CDC42_ENST00000498236.1_3'UTR	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	87					actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		TGGTCTCTCCATCTTCATTTG	0.358000													29	33					0	0	0.034045	0	0
TIMD4	91937	broad.mit.edu	37	5	156381757	156381757	+	Silent	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:156381757A>C	ENST00000274532.2	-	2	125	c.69T>G	c.(67-69)acT>acG	p.T23T	TIMD4_ENST00000407087.3_Silent_p.T23T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	23						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCTCTGAAGTGACTGGTG	0.473000													4	8					0	0	0.009096	0	0
ACOXL	55289	broad.mit.edu	37	2	111666433	111666433	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:111666433C>T	ENST00000389811.4	+	11	1080	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R286W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	286					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACAGACCCTGCGGCTGATGCC	0.547000													9	49					0	0	0.058154	0	0
DTNB	1838	broad.mit.edu	37	2	25803661	25803661	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:25803661A>C	ENST00000406818.3	-	7	887	c.638T>G	c.(637-639)aTg>aGg	p.M213R	DTNB_ENST00000407661.3_Missense_Mutation_p.M213R|DTNB_ENST00000545439.1_Missense_Mutation_p.M9R|DTNB_ENST00000288642.8_Missense_Mutation_p.M213R|DTNB_ENST00000407186.1_Missense_Mutation_p.M213R|DTNB_ENST00000407038.3_Missense_Mutation_p.M213R|DTNB_ENST00000404103.3_Missense_Mutation_p.M213R|DTNB_ENST00000405222.1_Missense_Mutation_p.M213R|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.M156R	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	213						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCATTGTGTCTAA	0.383000													5	53					0	0	0.014758	0	0
FBXL4	26235	broad.mit.edu	37	6	99353453	99353453	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:99353453G>A	ENST00000369244.2	-	6	1380	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	FBXL4_ENST00000229971.1_Silent_p.L318L			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	318	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATGTATTGCAGAGGATCACAG	0.433000													12	42					0	0	0.024245	0	0
OR52L1	338751	broad.mit.edu	37	11	6008146	6008146	+	Silent	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:6008146A>G	ENST00000332249.4	-	1	69	c.15T>C	c.(13-15)tcT>tcC	p.S5S		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAGAAAAAAGAAACCAAAG	0.423000													4	30					0	0	0.014758	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472445	66472445	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:66472445G>A	ENST00000533211.1	-	15	2633	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R768C|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R768C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	768					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GACACCAGGCGCAGTGCGTCA	0.682000													11	52					0	0	0.093190	0	0
PTPRO	5800	broad.mit.edu	37	12	15636952	15636952	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:15636952C>T	ENST00000281171.4	+	2	450	c.120C>T	c.(118-120)atC>atT	p.I40I	PTPRO_ENST00000543886.1_Silent_p.I40I|PTPRO_ENST00000348962.2_Silent_p.I40I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	40						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I40I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATAATAACATCGTTGTCTCAT	0.348000													22	73					0	0	0.055883	0	0
NDST2	8509	broad.mit.edu	37	10	75567374	75567374	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:75567374C>T	ENST00000299641.4	-	4	1374	c.404G>A	c.(403-405)cGt>cAt	p.R135H	NDST2_ENST00000309979.6_Missense_Mutation_p.R258H	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	258	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CCGGGCCCGACGAAGAACTGG	0.562000													11	27					0	0	0.093190	0	0
DOLPP1	57171	broad.mit.edu	37	9	131843487	131843487	+	Splice_Site	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:131843487G>C	ENST00000372546.4	+	1	108		c.e1+1		DOLPP1_ENST00000540102.1_Splice_Site|DOLPP1_ENST00000406974.3_Splice_Site	NM_020438.4	NP_065171.2	Q86YN1	DOPP1_HUMAN	dolichyldiphosphatase 1						dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TATCCTGCAGGTAAAAGGCGG	0.706000													8	44					0	0	0.038147	0	0
KAT6B	23522	broad.mit.edu	37	10	76780360	76780360	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:76780360G>C	ENST00000287239.4	+	14	3139	c.2650G>C	c.(2650-2652)Gaa>Caa	p.E884Q	KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.E592Q|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372711.1_Missense_Mutation_p.E701Q|KAT6B_ENST00000372724.1_Missense_Mutation_p.E592Q|KAT6B_ENST00000372714.1_Missense_Mutation_p.E592Q	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	884	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTCTAGAAGAGAAGGCCAAGC	0.478000													15	25					0	0	0.033300	0	0
CCDC8	83987	broad.mit.edu	37	19	46915759	46915759	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:46915759G>A	ENST00000307522.3	-	1	1082	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	103						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ACTCGCTGTCGCTGGCGTTGC	0.652000													17	122					0	0	0.049695	0	0
DNAH10	196385	broad.mit.edu	37	12	124335520	124335520	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:124335520C>T	ENST00000409039.3	+	34	5859	c.5834C>T	c.(5833-5835)cCc>cTc	p.P1945L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1945	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGGAGCTGCCCGAGTCGGTG	0.612000													24	35					0	0	0.091800	0	0
OR2T11	127077	broad.mit.edu	37	1	248790244	248790244	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:248790244C>T	ENST00000330803.2	-	1	247	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGATGGACAGCTGACTGAGCA	0.483000													12	32					0	0	0.080935	0	0
CMBL	134147	broad.mit.edu	37	5	10280584	10280584	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:10280584C>T	ENST00000296658.3	-	6	1139	c.719G>A	c.(718-720)tGg>tAg	p.W240*	CMBL_ENST00000510532.1_5'UTR	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	240						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTGTTCAGCCACTCAATTAA	0.418000													7	87					0	0	0.047766	0	0
PALM2	114299	broad.mit.edu	37	9	112705030	112705030	+	Silent	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:112705030T>C	ENST00000448454.2	+	8	567	c.567T>C	c.(565-567)tcT>tcC	p.S189S	AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000314527.4_Silent_p.S187S|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000374531.2_Silent_p.S155S|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Silent_p.S153S					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGATTCTCTCTACATCTACCA	0.453000													6	21					0	0	0.021553	0	0
TPCN2	219931	broad.mit.edu	37	11	68846464	68846464	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:68846464C>T	ENST00000294309.3	+	16	1616	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.D505D	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	505					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGTTTGACGGGCTCCTCA	0.612000													5	74					0	0	0.038147	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153905593	153905593	+	Missense_Mutation	SNP	A	A	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:153905593A>T	ENST00000356448.4	+	7	1891	c.1607A>T	c.(1606-1608)gAa>gTa	p.E536V	ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E536V	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	536	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TGCACAAATGAAGTCTACCAA	0.343000													4	18					0	0	0.009096	0	0
RTCB	51493	broad.mit.edu	37	22	32784017	32784017	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:32784017C>T	ENST00000216038.5	-	12	1578	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	RTCB_ENST00000451746.2_3'UTR	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		AGTTTAATGGCTTTCTTGCTG	0.463000													4	23					0	0	0.009096	0	0
PEX3	8504	broad.mit.edu	37	6	143793311	143793311	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:143793311A>G	ENST00000367591.4	+	8	656	c.593A>G	c.(592-594)cAt>cGt	p.H198R		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	198					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTTAAACATTCTTTGTCC	0.333000													19	20					0	0	0.049695	0	0
FHOD1	29109	broad.mit.edu	37	16	67267888	67267888	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:67267888G>T	ENST00000258201.4	-	13	1965	c.1718C>A	c.(1717-1719)tCa>tAa	p.S573*	FHOD1_ENST00000567687.1_Nonsense_Mutation_p.S152*	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	573	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CAGTGGGGGTGAGGGAGCTGG	0.602000													7	53					0.000157383	0.000169261	0.038147	1	0
RBM5	10181	broad.mit.edu	37	3	50144992	50144992	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:50144992C>T	ENST00000347869.3	+	12	1206	c.1031C>T	c.(1030-1032)tCa>tTa	p.S344L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	344	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCAGTGGTCATCCACCCAG	0.512000													14	18					0	0	0.020292	0	0
CES2	8824	broad.mit.edu	37	16	66969411	66969411	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:66969411T>C	ENST00000317091.4	+	1	1049	c.65T>C	c.(64-66)cTg>cCg	p.L22P	CES2_ENST00000417689.1_Missense_Mutation_p.L22P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	0					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGCACCCCGCTGACTCCCTGC	0.667000													61	71					0	0	0.048971	0	0
ZNF326	284695	broad.mit.edu	37	1	90484343	90484343	+	Splice_Site	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:90484343G>T	ENST00000340281.4	+	9	1317	c.1174_splice	c.e9+1	p.G392_splice	ZNF326_ENST00000370447.2_Splice_Site_p.G303_splice|ZNF326_ENST00000455342.2_Splice_Site_p.G186_splice	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGTTATGGAAGGTAAGTATTT	0.254000													6	24					5.9392e-07	6.63793e-07	0.021553	1	0
FKBP6	8468	broad.mit.edu	37	7	72754700	72754700	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:72754700G>A	ENST00000252037.4	+	6	718	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	FKBP6_ENST00000431982.2_Missense_Mutation_p.A212T|FKBP6_ENST00000413573.2_Missense_Mutation_p.A187T	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	217					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTGGAGGCCGCCAAGCTTCC	0.567000													13	42					0	0	0.093190	0	0
IGHA1	3493	broad.mit.edu	37	14	106174914	106174914	+	RNA	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr14:106174914C>T	ENST00000390547.2	-	0	88																											GGGGAAGAAGCCCTGGACCAG	0.647000													5	44					0	0	0.021553	0	0
OR52E4	390081	broad.mit.edu	37	11	5905534	5905534	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:5905534C>G	ENST00000316987.2	+	1	34	c.12C>G	c.(10-12)atC>atG	p.I4M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTTCTATCAATGACACCC	0.428000													19	77					0	0	0.049695	0	0
ACKR2	1238	broad.mit.edu	37	3	42906038	42906038	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:42906038C>T	ENST00000422265.1	+	3	219	c.44C>T	c.(43-45)gCc>gTc	p.A15V	ACKR2_ENST00000273145.2_Missense_Mutation_p.A15V|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Missense_Mutation_p.A15V|KRBOX1_ENST00000426937.1_Intron	NM_001296.4	NP_001287.2			atypical chemokine receptor 2																		ACTGAGGATGCCGATTCTGAG	0.542000													3	27					0	0	0.009096	0	0
SPG11	80208	broad.mit.edu	37	15	44944131	44944131	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:44944131C>A	ENST00000261866.7	-	6	1030	c.1014G>T	c.(1012-1014)tgG>tgT	p.W338C	SPG11_ENST00000535302.2_Missense_Mutation_p.W338C|SPG11_ENST00000427534.2_Missense_Mutation_p.W338C|SPG11_ENST00000559193.1_Missense_Mutation_p.W338C|SPG11_ENST00000558319.1_Missense_Mutation_p.W338C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	338					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)		GCTGGGCTTTCCAAGACCTGG	0.373000													4	24					0.00024832	0.000264565	0.009096	1	0
FNTB	2342	broad.mit.edu	37	14	65453708	65453708	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr14:65453708C>T	ENST00000246166.2	+	1	271	c.37C>T	c.(37-39)Cca>Tca	p.P13S	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002028.3	NP_002019.1			farnesyltransferase, CAAX box, beta											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTATTGCCCTCCATCTTCCTC	0.562000											OREG0022738	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	34					0	0	0.014758	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222184	131222184	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:131222184T>C	ENST00000337057.3	-	7	1247	c.1066A>G	c.(1066-1068)Atc>Gtc	p.I356V	EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.I356V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.I356V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.I356V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.I356V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.I356V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	356	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGAGGTCGATGCTGCCATGT	0.542000													19	94					0	0	0.043863	0	0
BBX	56987	broad.mit.edu	37	3	107492402	107492402	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:107492402G>A	ENST00000415149.2	+	11	2161	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	BBX_ENST00000325805.8_Missense_Mutation_p.E612K|BBX_ENST00000402543.1_Missense_Mutation_p.E612K|BBX_ENST00000406780.1_Missense_Mutation_p.E612K|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAGGAAATCCGAGAGGTCTTG	0.483000													13	50					0	0	0.093190	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460413	70460413	+	Splice_Site	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:70460413T>C	ENST00000503640.1	-	5	1141	c.1084_splice	c.e5-1	p.G362_splice	UGT2A1_ENST00000512704.1_Splice_Site_p.G318_splice|UGT2A1_ENST00000286604.4_Splice_Site_p.G362_splice|UGT2A2_ENST00000457664.2_Splice_Site_p.G371_splice|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Splice_Site_p.G528_splice	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	362					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTGGGATGTCCTAATTTGA	0.418000													2	8					0	0	0.004672	0	0
GPNMB	10457	broad.mit.edu	37	7	23306162	23306162	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:23306162C>T	ENST00000258733.4	+	7	1340	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L	GPNMB_ENST00000381990.2_Silent_p.L361L|GPNMB_ENST00000453162.2_Silent_p.L303L|GPNMB_ENST00000539136.1_Silent_p.L250L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	361					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CCCCCTGGAGCTGAGTAGGAT	0.413000													9	43					0	0	0.080935	0	0
OTUD7A	161725	broad.mit.edu	37	15	31776457	31776457	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr15:31776457C>T	ENST00000382902.1	-	11	1934	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	OTUD7A_ENST00000307050.4_Silent_p.P607P			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	607						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CGTCGCCCCGCGGCCCACCGC	0.697000													4	13					0	0	0.009096	0	0
RBCK1	10616	broad.mit.edu	37	20	398533	398533	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr20:398533C>G	ENST00000356286.5	+	4	1124	c.419C>G	c.(418-420)cCt>cGt	p.P140R	RBCK1_ENST00000353660.3_Missense_Mutation_p.P98R|RBCK1_ENST00000382181.2_Missense_Mutation_p.L24V	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	140	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				TCCCTCAACCCTCAGGAGCTG	0.672000													8	24					0	0	0.058154	0	0
DNAJB8	165721	broad.mit.edu	37	3	128181534	128181534	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:128181534G>A	ENST00000469083.1	-	2	3112	c.555C>T	c.(553-555)tcC>tcT	p.S185S	DNAJB8_ENST00000319153.3_Silent_p.S185S			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	185					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCATCTCGGTGGACGACATCA	0.627000													15	39					0	0	0.020292	0	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	50					0	0	0.004672	0	0
TRPM3	80036	broad.mit.edu	37	9	73152300	73152300	+	Silent	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:73152300C>T	ENST00000377110.2	-	25	3936	c.3693G>A	c.(3691-3693)cgG>cgA	p.R1231R	TRPM3_ENST00000396280.5_Silent_p.R1080R|TRPM3_ENST00000396285.1_Silent_p.R1090R|TRPM3_ENST00000408909.2_Silent_p.R1090R|TRPM3_ENST00000360823.2_Silent_p.R1093R|TRPM3_ENST00000396292.4_Silent_p.R1103R|TRPM3_ENST00000423814.3_Silent_p.R1258R|TRPM3_ENST00000357533.2_Silent_p.R1235R|TRPM3_ENST00000358082.3_Silent_p.R1093R|TRPM3_ENST00000377111.2_Silent_p.R1231R|TRPM3_ENST00000377105.1_Silent_p.R1090R|TRPM3_ENST00000377106.1_Silent_p.R1103R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1256						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CTTCCTCCAGCCGCATAGACA	0.572000													4	32					0	0	0.014758	0	0
TDRD1	56165	broad.mit.edu	37	10	115973760	115973760	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:115973760T>C	ENST00000251864.2	+	16	2252	c.2099T>C	c.(2098-2100)gTa>gCa	p.V700A	TDRD1_ENST00000369280.1_Missense_Mutation_p.V700A|TDRD1_ENST00000422662.1_Missense_Mutation_p.V304A|TDRD1_ENST00000369281.2_Missense_Mutation_p.V643A|TDRD1_ENST00000369282.1_Missense_Mutation_p.V700A	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	700					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGGAAAAGTAAATCCATTG	0.443000													12	39					0	0	0.093190	0	0
TRIM36	55521	broad.mit.edu	37	5	114462268	114462268	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:114462268C>T	ENST00000513154.1	-	10	2409	c.2083G>A	c.(2083-2085)Ggc>Agc	p.G695S	TRIM36_ENST00000514154.1_Missense_Mutation_p.G552S|TRIM36_ENST00000282369.3_Missense_Mutation_p.G707S			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	707	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CCTCCACTGCCCATTAATGCA	0.393000													7	14					0	0	0.038147	0	0
CNGB1	1258	broad.mit.edu	37	16	57953017	57953017	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr16:57953017A>G	ENST00000564448.1	-	20	1985	c.1925T>C	c.(1924-1926)aTt>aCt	p.I642T	CNGB1_ENST00000251102.8_Missense_Mutation_p.I648T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	648					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CAGCGGGTCAATGCTCTGGGG	0.577000													17	34					0	0	0.033300	0	0
USH2A	7399	broad.mit.edu	37	1	216258090	216258090	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:216258090C>T	ENST00000366943.2	-	25	5503	c.5117G>A	c.(5116-5118)tGg>tAg	p.W1706*	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.W1706*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1706	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACATCCCTCCCAGCTGTTATA	0.408000										HNSCC(13;0.011)			8	57					0	0	0.047766	0	0
DISP1	84976	broad.mit.edu	37	1	223178344	223178344	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:223178344G>C	ENST00000284476.6	+	8	3769	c.3605G>C	c.(3604-3606)tGc>tCc	p.C1202S		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1202					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TCCCACAGCTGCACTGCCCCT	0.443000													8	43					0	0	0.058154	0	0
DNAH11	8701	broad.mit.edu	37	7	21934574	21934574	+	Missense_Mutation	SNP	T	T	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr7:21934574T>G	ENST00000328843.6	+	80	13058	c.13027T>G	c.(13027-13029)Tgg>Ggg	p.W4343G	DNAH11_ENST00000409508.3_Missense_Mutation_p.W4336G			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4343					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						ACCAGACACTTGGAGCAAACT	0.522000									Kartagener syndrome				6	41					0	0	0.029380	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45719340	45719340	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:45719340G>T	ENST00000413988.1	-	9	972	c.932C>A	c.(931-933)cCa>cAa	p.P311Q	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.P311Q	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	311										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CCTGATGTCTGGGTAGTCGCG	0.657000													15	35					6.31663e-08	7.20095e-08	0.024245	1	0
FAM86C2P	645332	broad.mit.edu	37	11	67559935	67559935	+	RNA	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr11:67559935G>T	ENST00000528089.1	-	0	1815																											GACGGCAGTGGTGCCGCCTGG	0.557000													4	17					0.00909568	0.009601	0.009096	1	0
DRD5	1816	broad.mit.edu	37	4	9785061	9785061	+	Missense_Mutation	SNP	C	C	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:9785061C>G	ENST00000304374.2	+	1	1804	c.1408C>G	c.(1408-1410)Cct>Gct	p.P470A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	470					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAAATAACACCTTTCACCCC	0.483000													7	37					0	0	0.029380	0	0
PCDH8	5100	broad.mit.edu	37	13	53421570	53421570	+	Silent	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr13:53421570G>A	ENST00000377942.3	-	1	1205	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	PCDH8_ENST00000338862.4_Silent_p.R334R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	334	Cadherin 3.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGTGGCAGCGCGGGGCCCGG	0.721000													8	9					0	0	0.058154	0	0
TP53	7157	broad.mit.edu	37	17	7577575	7577575	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:7577575A>C	ENST00000420246.2	-	7	838	c.706T>G	c.(706-708)Tac>Gac	p.Y236D	TP53_ENST00000445888.2_Missense_Mutation_p.Y236D|TP53_ENST00000455263.2_Missense_Mutation_p.Y236D|TP53_ENST00000359597.4_Missense_Mutation_p.Y236D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.Y236D|TP53_ENST00000413465.2_Missense_Mutation_p.Y236D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236N(12)|p.Y236D(9)|p.Y236H(9)|p.0?(8)|p.?(5)|p.Y236del(4)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236fs*5(1)|p.Y234fs*2(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y143D(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTACACATGTAGTTGTAGTGG	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	15					0	0	0.076483	0	0
GTF2E1	2960	broad.mit.edu	37	3	120495328	120495328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr3:120495328G>T	ENST00000283875.5	+	4	802	c.709G>T	c.(709-711)Gaa>Taa	p.E237*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	237					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCACCACCGGGAAGCATGGGC	0.458000													25	66					2.00529e-23	2.38128e-23	0.083992	1	0
TCF20	6942	broad.mit.edu	37	22	42605941	42605941	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr22:42605941G>A	ENST00000359486.3	-	1	5507	c.5371C>T	c.(5371-5373)Cgc>Tgc	p.R1791C	TCF20_ENST00000404876.1_Missense_Mutation_p.R92C|TCF20_ENST00000335626.4_Missense_Mutation_p.R1791C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TCTTCCGAGCGGTGGCGCCGC	0.597000													16	46					0	0	0.024245	0	0
ACRBP	84519	broad.mit.edu	37	12	6753666	6753666	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr12:6753666T>A	ENST00000229243.2	-	5	674	c.581A>T	c.(580-582)gAg>gTg	p.E194V	ACRBP_ENST00000414226.2_Missense_Mutation_p.E161V|ACRBP_ENST00000536350.1_Missense_Mutation_p.E194V	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	194						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CTGCTTGTGCTCTGGCGCTTG	0.582000													9	99					0	0	0.058154	0	0
TMEM206	55248	broad.mit.edu	37	1	212583778	212583778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr1:212583778delC	ENST00000261455.4	-	2	259	c.122delG	c.(121-123)gtfs	p.G41fs	TMEM206_ENST00000535273.1_Frame_Shift_Del_p.G102fs|TMEM206_ENST00000471937.1_5'UTR	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	41						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		TGGTAAGATACCCGGACCTTG	0.582													34	218	---	---	---	---					
AGPS	8540	broad.mit.edu	37	2	178326624	178326624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr2:178326624delA	ENST00000264167.4	+	9	1020	c.874delA	c.(874-876)aafs	p.K292fs	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	292	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTTCAGCTTAAAGAAAGTGG	0.383													30	32	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187531028	187531029	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr4:187531028_187531029insT	ENST00000441802.2	-	15	10203_10204	c.9994_9995insA	c.(9994-9996)cccfs	p.P3332fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3332	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAACACAGGGGTATTATCGTTG	0.465										HNSCC(5;0.00058)			9	17	---	---	---	---					
HCN1	348980	broad.mit.edu	37	5	45262631	45262631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr5:45262631delG	ENST00000303230.4	-	8	2122	c.2065delC	c.(2065-2067)agfs	p.Q689fs		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	689						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGATGGCTGGGGGGTCTGT	0.637													7	59	---	---	---	---					
RP11-459O1.2	0	broad.mit.edu	37	6	89124362	89124362	+	RNA	DEL	C	C	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:89124362delC	ENST00000429137.1	-	0	90																											gggaggggtgccttcaatgtc	0.507													2	4	---	---	---	---					
ESR1	2099	broad.mit.edu	37	6	152129337	152129338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:152129337_152129338insC	ENST00000440973.1	+	3	660_661	c.290_291insC	c.(289-291)tccfs	p.S97fs	ESR1_ENST00000338799.5_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000443427.1_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000406599.1_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000456483.2_Frame_Shift_Ins_p.S97fs|ESR1_ENST00000206249.3_Frame_Shift_Ins_p.S97fs	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	97	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTGGGGGGTTTCCCCCCACTCA	0.723													2	4	---	---	---	---					
RP11-235G24.1	0	broad.mit.edu	37	6	161334499	161334499	+	RNA	DEL	T	T	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr6:161334499delT	ENST00000454826.1	-	0	207																											TGATTTCTTCTTTTTAAATTT	0.378													2	4	---	---	---	---					
TTF1	7270	broad.mit.edu	37	9	135271848	135271850	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr9:135271848_135271850delTCT	ENST00000334270.2	-	5	1865_1867	c.1826_1828delAGA	c.(1825-1830)atg>a	p.KM609del		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	609					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACATCGAACATCTTCTTTGCTCG	0.389													10	43	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													12	40	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20085579	20085579	+	RNA	DEL	C	C	-	rs78184369		TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr14:20085579delC	ENST00000548261.1	+	0	51																											TCTTGTAAATCtttttttttt	0.448													5	4	---	---	---	---					
KRT16P4	339244	broad.mit.edu	37	17	18334142	18334142	+	RNA	DEL	T	T	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr17:18334142delT	ENST00000580052.1	+	0	43																											TTGGCAGGGGTGGGGCTCTCA	0.562													2	4	---	---	---	---					
ZNF788	388507	broad.mit.edu	37	19	12223602	12223602	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chr19:12223602delG	ENST00000339302.4	+	3	1877	c.1240delG	c.(1240-1242)gafs	p.G414fs	ZNF788_ENST00000397759.3_Frame_Shift_Del_p.G33fs|ZNF788_ENST00000430298.2_3'UTR|ZNF20_ENST00000600335.1_Intron					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GAGCCACACTGGAGAGAACCC	0.413													2	4	---	---	---	---					
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-DQ-7592-01A-11D-2078-08	TCGA-DQ-7592-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8e20b3b-2666-4b53-aa85-a5056028df98	e942ac91-d4a1-4025-9126-78eb33c94626	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2																						ATATGAAAATacacacacacac	0.302													2	4	---	---	---	---