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
CDK5R1	8851	broad.mit.edu	37	17	30815064	30815064	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:30815064C>T	ENST00000313401.3	+	2	1115	c.426C>T	c.(424-426)gtC>gtT	p.V142V		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	142					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CCAAACGGGTCATCGTCCAGG	0.687000													15	86					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114251809	114251809	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:114251809G>A	ENST00000371936.1	-	3	273	c.24C>T	c.(22-24)atC>atT	p.I8I	IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_Silent_p.I8I			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	8				I -> V (in Ref. 4; BAF84646).		extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						ATAAGCATCCGATAGCCAAGC	0.323000													5	104					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37061005	37061005	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37061005G>A	ENST00000282516.8	+	45	8244	c.7745G>A	c.(7744-7746)cGa>cAa	p.R2582Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2582Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2582					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCGATAAACCGAAAAACAGGA	0.353000													5	49					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033433	26033433	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:26033433C>G	ENST00000259791.2	-	1	363	c.364G>C	c.(364-366)Gag>Cag	p.E122Q		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	122					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGATGGCTCTCAGTTTTCTTA	0.488000													10	80					0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17997819	17997819	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:17997819G>A	ENST00000281047.3	+	1	57	c.34G>A	c.(34-36)Gag>Aag	p.E12K		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	12					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTCAGCCTCGAGGATGGCTT	0.607000													5	46					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47637291	47637291	+	Missense_Mutation	SNP	C	C	T	rs63750910		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:47637291C>T	ENST00000406134.1	+	3	487	c.425C>T	c.(424-426)tCa>tTa	p.S142L	MSH2_ENST00000233146.2_Missense_Mutation_p.S142L|MSH2_ENST00000543555.1_Missense_Mutation_p.S76L			P43246	MSH2_HUMAN	mutS homolog 2	142					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			aatgatatgTCAGCTTCCATT	0.388000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				55	374					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065474	9065474	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:9065474C>T	ENST00000397910.4	-	3	22175	c.21972G>A	c.(21970-21972)atG>atA	p.M7324I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7326	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGATGGTCATTTCTGATG	0.443000													9	66					0	0	1	0	0
CYP2W1	54905	broad.mit.edu	37	7	1028135	1028135	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:1028135C>T	ENST00000340150.6	+	8	1220	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	CYP2W1_ENST00000308919.7_Intron			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	0					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CCTGCCGCCTCTGCACCCACC	0.716000													4	13					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56438649	56438649	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:56438649G>C	ENST00000370754.5	-	51	12970	c.12971C>G	c.(12970-12972)tCt>tGt	p.S4324C	DST_ENST00000312431.6_Missense_Mutation_p.S4144C|DST_ENST00000446842.2_Missense_Mutation_p.S3820C|DST_ENST00000244364.6_Missense_Mutation_p.S1732C|DST_ENST00000370769.4_Missense_Mutation_p.S4146C|DST_ENST00000370788.2_Missense_Mutation_p.S2058C|DST_ENST00000421834.2_Missense_Mutation_p.S2058C|DST_ENST00000361203.3_Missense_Mutation_p.S4144C			Q03001	DYST_HUMAN	dystonin	4144					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAACAGACTTGGACAG	0.418000													10	39					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1386278	1386278	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:1386278C>G	ENST00000359786.5	-	4	747	c.423G>C	c.(421-423)gaG>gaC	p.E141D	MYO1C_ENST00000575158.1_Missense_Mutation_p.E106D|MYO1C_ENST00000361007.2_Missense_Mutation_p.E106D|MYO1C_ENST00000545534.2_Missense_Mutation_p.E117D|MYO1C_ENST00000438665.2_Missense_Mutation_p.E122D	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	141	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCCCCGCTCTCCCCAGAGA	0.687000													6	32					0	0	1	0	0
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													3	11					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130883689	130883689	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:130883689G>T	ENST00000261655.4	-	19	3313	c.3150C>A	c.(3148-3150)ttC>ttA	p.F1050L		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1050						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ATTAAGGTGTGAAATGAACAC	0.343000													9	77					0.000442599	0.000450834	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94830360	94830360	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:94830360C>G	ENST00000262554.2	-	6	453	c.448G>C	c.(448-450)Gac>Cac	p.D150H	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	150						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCCAGGCGGTCTTCCAAATCC	0.338000													3	21					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384223	108384223	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:108384223C>T	ENST00000265843.4	-	6	2121	c.2011G>A	c.(2011-2013)Gaa>Aaa	p.E671K	EXPH5_ENST00000428840.1_Missense_Mutation_p.E595K|EXPH5_ENST00000443411.1_Missense_Mutation_p.E483K|EXPH5_ENST00000525344.1_Missense_Mutation_p.E664K|EXPH5_ENST00000524840.1_5'UTR	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	671					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		ACAGTGACTTCTGTATGGCTT	0.433000													9	88					0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856626	224856626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:224856626C>T	ENST00000409840.3	-	5	1239	c.579G>A	c.(577-579)tgG>tgA	p.W193*	SERPINE2_ENST00000258405.4_Nonsense_Mutation_p.W193*|SERPINE2_ENST00000447280.2_Nonsense_Mutation_p.W205*|SERPINE2_ENST00000409304.1_Nonsense_Mutation_p.W193*			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	193					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACCGTGATTTCCACAGACCCT	0.512000													9	60					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153690647	153690647	+	Silent	SNP	G	G	A	rs145756790	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:153690647G>A	ENST00000369682.3	+	4	1489	c.1314G>A	c.(1312-1314)aaG>aaA	p.K438K		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	438	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCTTGAAGAAGGTGGCCC	0.652000													5	79					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197410213	197410213	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:197410213C>G	ENST00000273582.5	-	14	2355	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	KIAA0226_ENST00000296343.5_Missense_Mutation_p.E649Q|KIAA0226_ENST00000389665.5_Missense_Mutation_p.E674Q	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	649	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACAAGCCACTCCAGCTCCGAG	0.607000													14	66					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:3138037G>A	ENST00000355072.5	+	21	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	928					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.A928T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATGTTGCCGCAGCATCACT	0.378000													3	30					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43576835	43576835	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:43576835G>C	ENST00000216129.6	-	3	522	c.459C>G	c.(457-459)ttC>ttG	p.F153L		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	153					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCTCACCGTGGAACTCAATGC	0.652000													26	138					0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47308042	47308042	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:47308042C>G	ENST00000337137.4	+	8	1139	c.973C>G	c.(973-975)Ctc>Gtc	p.L325V	TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L247V|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.L278V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L266V	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	325	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TATAAATGATCTCGTCACTCC	0.398000													17	116					0	0	1	0	0
CCDC71	64925	broad.mit.edu	37	3	49201250	49201250	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:49201250G>A	ENST00000321895.6	-	2	498	c.392C>T	c.(391-393)cCa>cTa	p.P131L		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	131										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAAGGGCTGGTGTGGATGC	0.632000													16	68					0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185252682	185252682	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:185252682G>C	ENST00000296252.4	-	2	429	c.288C>G	c.(286-288)ctC>ctG	p.L96L	LIPH_ENST00000424591.2_Silent_p.L96L	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	96					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTCAACAGAGAGCAAACCCT	0.438000													5	128					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39984669	39984669	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:39984669C>G	ENST00000373257.3	+	14	1889	c.1798C>G	c.(1798-1800)Cag>Gag	p.Q600E		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	600	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CTCCTCCGATCAGATCGTAAG	0.587000													7	65					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103279210	103279210	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:103279210C>G	ENST00000520539.1	-	52	7993	c.7387G>C	c.(7387-7389)Gat>Cat	p.D2463H	UBR5_ENST00000521922.1_Missense_Mutation_p.D2457H|UBR5_ENST00000518205.1_Missense_Mutation_p.D192H|UBR5_ENST00000220959.4_Missense_Mutation_p.D2463H	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2463	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATCCAAGATCCAGGATACTA	0.318000													23	158					0	0	1	0	0
WFDC13	164237	broad.mit.edu	37	20	44333211	44333211	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:44333211G>A	ENST00000305479.2	+	2	325	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	WFDC10B_ENST00000335769.2_Intron|WFDC10B_ENST00000330523.5_Intron	NM_172005.1	NP_742002.1	Q8IUB5	WFD13_HUMAN	WAP four-disulfide core domain 13	73						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				CTGTTCATCAGAAACATTTCA	0.468000													21	117					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56864452	56864452	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56864452G>A	ENST00000564887.1	+	8	1200	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NUP93_ENST00000569842.1_Missense_Mutation_p.E314K|NUP93_ENST00000308159.5_Missense_Mutation_p.E314K|NUP93_ENST00000542526.1_Missense_Mutation_p.E191K	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	314					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGGAGAGGTGGAAGGCCATCC	0.502000													23	129					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913868	35913868	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:35913868C>T	ENST00000339208.6	-	14	2097	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SYNRG_ENST00000591288.1_Missense_Mutation_p.A492T|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Missense_Mutation_p.A574T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A575T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A575T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A653T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A575T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	653	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCATAGTAGCAGCAGAACCT	0.418000													14	99					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26596039	26596039	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:26596039G>C	ENST00000252992.4	+	9	1714	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	CEP85_ENST00000451429.2_Missense_Mutation_p.R477T|CEP85_ENST00000469609.1_3'UTR	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	528						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCAATCTGCAGAGAGAAGGAG	0.512000													6	50					0	0	1	0	0
C11orf68	83638	broad.mit.edu	37	11	65685289	65685289	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65685289G>C	ENST00000438576.2	-	2	608	c.523C>G	c.(523-525)Ctg>Gtg	p.L175V	C11orf68_ENST00000449692.3_Missense_Mutation_p.L174V|C11orf68_ENST00000530188.1_Missense_Mutation_p.L133V			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	133										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		CCCGGTGCCAGATGCATAAGC	0.662000													5	44					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39580967	39580967	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:39580967C>T	ENST00000287152.7	-	6	731	c.637G>A	c.(637-639)Gag>Aag	p.E213K	KIF6_ENST00000373213.4_Missense_Mutation_p.E52K|KIF6_ENST00000373216.3_Missense_Mutation_p.E213K|KIF6_ENST00000373215.3_Missense_Mutation_p.E213K|KIF6_ENST00000538893.1_Missense_Mutation_p.E213K	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	213	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTATTACCTCTGCAATCATT	0.378000													4	41					0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37356794	37356794	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:37356794G>A	ENST00000217420.1	+	2	1353	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	364					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CACCTGGGCCGACGAGACCAA	0.627000													6	66					0	0	1	0	0
KLHL42	57542	broad.mit.edu	37	12	27950647	27950647	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:27950647G>A	ENST00000381271.2	+	3	1377		c.e3-1			NM_020782.1	NP_065833.1			kelch-like family member 42																		CTTTCTTTCAGACCGGAACAT	0.468000													62	423					0	0	1	0	0
LACC1	144811	broad.mit.edu	37	13	44457986	44457986	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:44457986G>A	ENST00000441843.1	+	4	1306	c.821G>A	c.(820-822)gGa>gAa	p.G274E	LACC1_ENST00000325686.6_Missense_Mutation_p.G274E	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	274																	AATCAGAGAGGAGTCACAATA	0.413000													10	79					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6540947	6540947	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6540947G>C	ENST00000254579.6	+	8	2074	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	DNHD1_ENST00000354685.3_Missense_Mutation_p.E504Q|DNHD1_ENST00000527990.2_Missense_Mutation_p.E504Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	504					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CAAGCAACTGGAGCAGAAGCT	0.527000													8	68					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95906442	95906442	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:95906442C>T	ENST00000520509.1	-	2	260	c.8G>A	c.(7-9)aGa>aAa	p.R3K	CCNE2_ENST00000308108.4_Missense_Mutation_p.R3K|CCNE2_ENST00000396133.3_Missense_Mutation_p.R3K			O96020	CCNE2_HUMAN	cyclin E2	3					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TTACCTTCGTCTTGACATTCT	0.388000													36	268					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603150	17603150	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:17603150G>A	ENST00000375460.3	+	12	1484	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	482					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCCTGCCCCCGATGGGAAGGT	0.597000													9	101					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37093512	37093512	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:37093512C>G	ENST00000378079.2	-	11	1474	c.1275G>C	c.(1273-1275)ttG>ttC	p.L425F		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	425										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGAACAAATTCAAAAAGCTTC	0.353000													8	49					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73572567	73572567	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:73572567G>A	ENST00000224721.6	+	67	9573	c.9568G>A	c.(9568-9570)Gac>Aac	p.D3190N	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.D945N	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3185					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGATGATGACCGATACCT	0.577000													5	27					0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23029290	23029290	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:23029290C>G	ENST00000377103.2	-	1	1088	c.852G>C	c.(850-852)gcG>gcC	p.A284A		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	284	EGF-like 2.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AGGACTGCGTCGCGGATGCGG	0.716000													6	22					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539648	133539648	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:133539648T>C	ENST00000409261.1	-	14	5109	c.4736A>G	c.(4735-4737)gAt>gGt	p.D1579G	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D1579G|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1579							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TAAACCGCCATCTGGATTATC	0.388000													13	93					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40062670	40062670	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:40062670C>T	ENST00000350221.3	-	3	477	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	90										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAATCCAGATCTTCATCTGAT	0.358000													16	114					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468885	10468885	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:10468885G>A	ENST00000382483.3	-	4	2946	c.2723C>T	c.(2722-2724)tCa>tTa	p.S908L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	908					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTTCTCCTTGATGCCCCTGA	0.711000													5	22					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377434	151377434	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:151377434C>G	ENST00000271715.2	-	19	4391	c.4077G>C	c.(4075-4077)ctG>ctC	p.L1359L	POGZ_ENST00000491586.1_Silent_p.L1315L|POGZ_ENST00000409503.1_Silent_p.L1350L|POGZ_ENST00000392723.1_Silent_p.L1306L|POGZ_ENST00000368863.2_Silent_p.L1264L|POGZ_ENST00000540984.1_Silent_p.L721L|POGZ_ENST00000531094.1_Silent_p.L1297L|POGZ_ENST00000361398.3_Silent_p.L1306L	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1359					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCCACTCAGCTTCAGTT	0.502000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	115					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036053	88036053	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:88036053C>G	ENST00000307808.6	+	11	2467	c.2047C>G	c.(2047-2049)Ctc>Gtc	p.L683V	AFF1_ENST00000395146.4_Missense_Mutation_p.L690V|AFF1_ENST00000544085.1_Missense_Mutation_p.L321V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	683						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTCTAAGGCTCTCTCAGGCCC	0.637000													10	84					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21825480	21825480	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:21825480C>T	ENST00000216297.2	-	22	2874	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	846					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGGACCCGCTCAAAGTGGATC	0.438000													4	53					0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33056843	33056843	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:33056843C>G	ENST00000397149.3	-	8	1037	c.987G>C	c.(985-987)caG>caC	p.Q329H	SMU1_ENST00000536631.1_Missense_Mutation_p.Q168H	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	329						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		ACCTAATTGTCTGGTCAAAAG	0.413000													8	132					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140201951	140201951	+	Missense_Mutation	SNP	A	A	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:140201951A>T	ENST00000529859.1	+	1	591	c.591A>T	c.(589-591)aaA>aaT	p.K197N	PCDHA5_ENST00000529619.1_Missense_Mutation_p.K197N|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.K197N|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGAGGAAATCCTTAGATA	0.348000													19	96					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96985417	96985417	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:96985417G>A	ENST00000369278.4	+	9	1036	c.970G>A	c.(970-972)Gat>Aat	p.D324N		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	324					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										AACATGGGTTGATATTGCAGT	0.353000													16	91					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064095	37064095	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37064095G>A	ENST00000448238.2	+	46	8532	c.8064G>A	c.(8062-8064)agG>agA	p.R2688R	NIPBL_ENST00000282516.8_Intron			Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	844					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGCGGAGGAGGAGTCAACGTA	0.413000													7	37					0	0	1	0	0
MEA1	4201	broad.mit.edu	37	6	42980718	42980718	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:42980718C>G	ENST00000244711.3	-	3	506	c.352G>C	c.(352-354)Gat>Cat	p.D118H		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	118					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCTCCTCATCTTCATCTTCA	0.483000													16	153					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50707318	50707318	+	Nonstop_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:50707318C>G	ENST00000330943.4	-	4	1121	c.950G>C	c.(949-951)tGa>tCa	p.*317S	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	0					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CAGGCCGGCTCAGTGCAGGTA	0.572000													22	105					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75216085	75216085	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:75216085C>G	ENST00000336926.6	-	5	477	c.451G>C	c.(451-453)Gag>Cag	p.E151Q	HIP1_ENST00000434438.2_Missense_Mutation_p.E151Q	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	151	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTGTGGTACTCCATCTTGGTT	0.572000			T	PDGFRB	CMML								6	18					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75168658	75168658	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:75168658C>T	ENST00000336926.6	-	30	3072	c.3046G>A	c.(3046-3048)Gag>Aag	p.E1016K	HIP1_ENST00000434438.2_Missense_Mutation_p.E965K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1016					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCCCAGCCCTCAGCAACACCA	0.532000			T	PDGFRB	CMML								23	457					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64967345	64967345	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:64967345C>G	ENST00000399262.2	-	10	4302	c.4084G>C	c.(4084-4086)Gac>Cac	p.D1362H	JMJD1C_ENST00000542921.1_Missense_Mutation_p.D1180H|JMJD1C_ENST00000399251.1_Missense_Mutation_p.D1143H|JMJD1C_ENST00000402544.1_Missense_Mutation_p.D1143H	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1362					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGAACACTGTCTGAATTCACA	0.413000													22	124					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236920804	236920804	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:236920804G>C	ENST00000366578.4	+	18	2339	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	ACTN2_ENST00000546208.1_Missense_Mutation_p.E219Q|ACTN2_ENST00000542672.1_Missense_Mutation_p.E725Q	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	725					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGTTGGATGGGAGCTGCTGCT	0.488000													14	71					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478518	21478518	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:21478518C>A	ENST00000281523.2	-	5	1135	c.617G>T	c.(616-618)tGt>tTt	p.C206F	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	206						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCATAGCGAACAGTAAAGAAG	0.478000													21	127					1.64293e-13	1.72982e-13	1	1	0
CTU2	348180	broad.mit.edu	37	16	88780994	88780994	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:88780994G>A	ENST00000567949.1	+	12	1423		c.e12-1		CTU2_ENST00000378384.3_Splice_Site|CTU2_ENST00000312060.5_Splice_Site|CTU2_ENST00000453996.2_Splice_Site			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTGCTTGCAGACAGTGCCAC	0.667000													13	64					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56865890	56865890	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56865890G>A	ENST00000564887.1	+	9	1482	c.853G>A	c.(853-855)Gac>Aac	p.D285N	NUP93_ENST00000569842.1_Missense_Mutation_p.D408N|NUP93_ENST00000308159.5_Missense_Mutation_p.D408N|NUP93_ENST00000542526.1_Missense_Mutation_p.D285N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	408					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAAGTGGCGGACAAAACTGA	0.517000													15	115					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45229206	45229206	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:45229206G>A	ENST00000066544.3	-	9	1129	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CDC27_ENST00000446365.2_Missense_Mutation_p.L285F|CDC27_ENST00000527547.1_Missense_Mutation_p.L346F|CDC27_ENST00000531206.1_Missense_Mutation_p.L352F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	346					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTTTGTGCAAGAATTGGAGTT	0.358000													22	168					0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135106925	135106925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:135106925G>A	ENST00000428680.2	-	3	631	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	CNOT4_ENST00000423368.2_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000315544.5_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.Q118*|CNOT4_ENST00000541284.1_Nonsense_Mutation_p.Q118*	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	118	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GCTAGGCGCTGAGATAAACCT	0.368000													14	77					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292373	6292373	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6292373G>A	ENST00000525462.1	+	4	1154	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Missense_Mutation_p.G231E|CCKBR_ENST00000334619.2_Missense_Mutation_p.G315E			P32239	GASR_HUMAN	cholecystokinin B receptor	315					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCTGGGCCGGGATCCGGCTCC	0.632000													13	116					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9584724	9584724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:9584724G>A	ENST00000400556.3	-	7	761	c.688C>T	c.(688-690)Cga>Tga	p.R230*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.R213*|PPP4R1_ENST00000580583.1_5'UTR	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	230					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AATACCTTTCGAACGTGAAAC	0.363000													6	29					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434679	110434679	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:110434679C>G	ENST00000375856.3	-	1	4236	c.3722G>C	c.(3721-3723)aGa>aCa	p.R1241T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1241					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			AGAGGTCTCTCTGCGCATGGG	0.731000													6	38					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10463668	10463668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:10463668G>A	ENST00000317552.4	-	4	1220	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	MID1_ENST00000453318.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380782.2_Nonsense_Mutation_p.Q274*|MID1_ENST00000380779.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380780.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380787.1_Nonsense_Mutation_p.Q274*|MID1_ENST00000380785.1_Nonsense_Mutation_p.Q274*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	274					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGTCTTTGCTGAATGATCTCA	0.388000													17	127					0	0	1	0	0
SYDE1	85360	broad.mit.edu	37	19	15224386	15224386	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:15224386G>A	ENST00000600252.1	+	5	2433	c.791G>A	c.(790-792)cGa>cAa	p.R264Q	SYDE1_ENST00000600440.1_Missense_Mutation_p.R540Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.R607Q			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	607					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCCTGCCCCGACAATCTCCA	0.617000													5	263					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48676880	48676880	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:48676880C>T	ENST00000352832.5	+	16	3653	c.3281C>T	c.(3280-3282)cCc>cTc	p.P1094L	CACNA1G_ENST00000358244.5_Missense_Mutation_p.P1094L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.P1094L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514717.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513964.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000513689.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000416767.4_Missense_Mutation_p.P1117L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.P1117L|CACNA1G_ENST00000503485.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.P1094L|CACNA1G_ENST00000510366.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.P1117L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.P1117L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.P1094L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.P1094L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1117					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCGTGCACCCAGCCTGAAG	0.682000													4	17					0	0	1	0	0
OR2S2	56656	broad.mit.edu	37	9	35957488	35957488	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:35957488G>A	ENST00000341959.2	-	1	663	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_019897.2	NP_063950.2	Q9NQN1	OR2S1_HUMAN	olfactory receptor, family 2, subfamily S, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GATCACATTCGTCACCTCCAT	0.483000													50	119					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420387	105420387	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105420387C>G	ENST00000333244.5	-	7	1520	c.1401G>C	c.(1399-1401)ttG>ttC	p.L467F		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	467						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGTGTCTCTCAAGGACAGTC	0.542000													10	52					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262058	45262058	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:45262058C>T	ENST00000303230.4	-	8	2695	c.2638G>A	c.(2638-2640)Gac>Aac	p.D880N		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	880						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						TTTTCTGCGTCTGGGTCTGTG	0.483000													23	170					0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101277794	101277794	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:101277794G>A	ENST00000342624.5	-	15	2089	c.1831C>T	c.(1831-1833)Cgt>Tgt	p.R611C	TMTC4_ENST00000376234.3_Missense_Mutation_p.R592C|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.R481C	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	592						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTACCAGACGCCCGAGGTTG	0.458000													12	87					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37059248	37059248	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059248C>T	ENST00000282516.8	+	44	8165	c.7666C>T	c.(7666-7668)Ctt>Ttt	p.L2556F	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2556F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2556					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTGAAGAATCTTTGTGGATT	0.353000													6	50					0	0	1	0	0
CDKN2B-AS1	100048912	broad.mit.edu	37	9	22029493	22029493	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:22029493G>A	ENST00000404796.2	+	5	522	c.409G>A	c.(409-411)Gat>Aat	p.D137N	CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA														p.0(1)|p.0?(1)									ATGCTGTGATGATTCCTCAGC	0.463000													21	310					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46900630	46900630	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:46900630C>T	ENST00000359759.4	+	12	2735	c.2714C>T	c.(2713-2715)cCt>cTt	p.P905L	COL18A1_ENST00000355480.5_Missense_Mutation_p.P670L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P490L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	905	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGAGGCTTCCCTGGACCTCCC	0.697000													10	59					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274965	74274965	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:74274965C>T	ENST00000409262.3	+	1	1516	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	506							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGAAGTGCAGGCTCATCC	0.627000													4	22					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25982412	25982412	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:25982412G>C	ENST00000435504.4	-	9	1171	c.878C>G	c.(877-879)tCa>tGa	p.S293*	ASXL2_ENST00000272341.4_Nonsense_Mutation_p.S33*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.S265*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.S33*			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAAGGACTGAAAATGTGTG	0.423000													22	131					0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122446757	122446757	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:122446757C>G	ENST00000474629.2	+	16	5306	c.5040C>G	c.(5038-5040)ctC>ctG	p.L1680L		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1680	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGAAGCAACTCTTCCATGGGA	0.478000													8	53					0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36386983	36386983	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:36386983G>A	ENST00000396901.1	-	9	1078	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	NFKBID_ENST00000606253.1_Missense_Mutation_p.R169C|NFKBID_ENST00000352614.2_Missense_Mutation_p.R321C	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	169					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TCGGAAGGGCGCATAGCAACG	0.622000													4	141					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50247650	50247650	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:50247650G>A	ENST00000246801.3	-	8	1281	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L	TSKS_ENST00000358830.3_Missense_Mutation_p.S200L	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	400							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGACACTGCTGACCGCTCCAC	0.572000													14	86					0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219507517	219507517	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:219507517G>A	ENST00000411696.2	-	7	4501	c.3722C>T	c.(3721-3723)tCg>tTg	p.S1241L	ZNF142_ENST00000449707.1_Missense_Mutation_p.S1241L			P52746	ZN142_HUMAN	zinc finger protein 142	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S1078L(1)|p.S1241L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCGCAGTTTCGAGTTGGTACC	0.552000													5	233					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74021841	74021841	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:74021841C>G	ENST00000296805.3	-	18	2294	c.1837G>C	c.(1837-1839)Gaa>Caa	p.E613Q	GFM2_ENST00000515125.1_5'UTR|GFM2_ENST00000509430.1_Missense_Mutation_p.E613Q|GFM2_ENST00000345239.2_Missense_Mutation_p.E566Q	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	613					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGATACTTTCAGCATACTCA	0.418000													13	92					0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37643489	37643489	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:37643489G>C	ENST00000356958.4	-	5	1570	c.1312C>G	c.(1312-1314)Cat>Gat	p.H438D	ZNF585A_ENST00000292841.5_Missense_Mutation_p.H383D|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H383D|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCACATTTATGAGGTTTCTCT	0.388000													16	138					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46245376	46245376	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:46245376C>G	ENST00000334344.6	+	15	3642	c.3470C>G	c.(3469-3471)tCa>tGa	p.S1157*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1008*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.S767*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1157					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCACTGATCTCAAATAGCCCA	0.478000			"""N, S, F"""		hepatocellular carcinoma								21	125					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111064	145111064	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:145111064G>A	ENST00000426825.1	-	15	2163	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	694							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TACTGTCGATGATGAGGCAGG	0.637000													14	72					0	0	1	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338157	65338157	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65338157C>T	ENST00000526877.1	+	2	107	c.102C>T	c.(100-102)atC>atT	p.I34I	SSSCA1_ENST00000309328.3_Silent_p.I34I|SSSCA1_ENST00000531405.1_5'UTR|SSSCA1_ENST00000527920.1_5'UTR			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	34					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						AAGATCGCATCTCCCGGCTCA	0.667000													10	51					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52314550	52314550	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:52314550C>G	ENST00000550683.1	+	9	1528	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	ACVRL1_ENST00000388922.4_Nonsense_Mutation_p.S462*|ACVRL1_ENST00000419526.2_Nonsense_Mutation_p.S288*	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	462	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAGGTCCTCTCAGGCCTAGCT	0.582000													5	45					0	0	1	0	0
FITM1	161247	broad.mit.edu	37	14	24600964	24600964	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:24600964C>T	ENST00000558325.1	+	3	754	c.754C>T	c.(754-756)Cat>Tat	p.252_252insY	FITM1_ENST00000267426.5_Silent_p.V64V																							CAGCAGTGGTCATCTTTGGGC	0.602000													14	82					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13184299	13184299	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:13184299G>A	ENST00000358552.3	+	3	683	c.683G>A	c.(682-684)aGa>aAa	p.R228K	NFIX_ENST00000360105.4_Missense_Mutation_p.R232K|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000592199.1_Missense_Mutation_p.R229K|NFIX_ENST00000588228.1_Missense_Mutation_p.R182K|NFIX_ENST00000397661.2_Missense_Mutation_p.R229K|NFIX_ENST00000587260.1_Missense_Mutation_p.R228K|NFIX_ENST00000587760.1_Missense_Mutation_p.R221K|NFIX_ENST00000585575.1_Missense_Mutation_p.R221K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	229					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GAGCTGGTGAGAGTATCACAG	0.527000													14	70					0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553064	106553064	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:106553064C>T	ENST00000369096.4	+	5	1263	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	PRDM1_ENST00000369089.3_Silent_p.P209P|PRDM1_ENST00000369091.2_Silent_p.P307P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	343					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GAAGCAGCCCCGACCAAAGCC	0.617000			"""D, N, Mis, F, S"""		DLBCL								12	109					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143091299	143091299	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:143091299C>G	ENST00000275815.3	-	15	2576	c.2490G>C	c.(2488-2490)atG>atC	p.M830I		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	830	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTGATTGCTCATCTCCCCAT	0.512000													7	161					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203144534	203144534	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:203144534C>G	ENST00000255416.4	-	2	318	c.261G>C	c.(259-261)gtG>gtC	p.V87V		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	87	Fibronectin type-III 1.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		AGCTCACAGTCACAGAGCTGC	0.627000													17	131					0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94955491	94955491	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:94955491C>A	ENST00000370214.4	+	15	1306	c.1282C>A	c.(1282-1284)Cct>Act	p.P428T	ABCD3_ENST00000536817.1_Missense_Mutation_p.P355T|ABCD3_ENST00000394233.2_Missense_Mutation_p.P318T|ABCD3_ENST00000454898.2_Missense_Mutation_p.P452T|ABCD3_ENST00000484213.1_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	428					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCCCTTGATACCTGGTGCTGG	0.318000													16	69					0.000566183	0.000575379	1	1	0
TMEM184A	202915	broad.mit.edu	37	7	1586684	1586684	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:1586684C>T	ENST00000297477.5	-	9	1462	c.1146G>A	c.(1144-1146)gcG>gcA	p.A382A		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	382						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGGGCCTGGGCGCCTCGTGCG	0.697000													4	68					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122617979	122617979	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:122617979C>G	ENST00000319080.6	+	9	1309	c.1177C>G	c.(1177-1179)Cac>Gac	p.H393D	MLXIP_ENST00000538698.1_5'UTR			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	393	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATCCCTGGCTCACATGGATGA	0.622000													10	61					0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14580239	14580239	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:14580239C>T	ENST00000242783.6	+	16	2228	c.2063C>T	c.(2062-2064)cCg>cTg	p.P688L	PKN1_ENST00000342216.4_Missense_Mutation_p.P694L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	688	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TTCCAGACACCGGAGCACGTG	0.622000													4	156					0	0	1	0	0
PAXIP1	22976	broad.mit.edu	37	7	154767968	154767968	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:154767968G>A	ENST00000404141.1	-	6	666	c.512C>T	c.(511-513)tCa>tTa	p.S171L	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.S171L			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	171	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGTTTTCTCTGATACGCAATC	0.403000													16	79					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857614	124857614	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:124857614C>G	ENST00000529051.1	+	8	1751	c.1492C>G	c.(1492-1494)Cag>Gag	p.Q498E	CCDC15_ENST00000344762.5_Missense_Mutation_p.Q498E			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	498						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		GCCAAAATATCAGGACCAGAA	0.398000													34	243					0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67910785	67910785	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:67910785C>T	ENST00000358933.5	+	4	600	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	121					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGTGAAAATTCAGCCTGTCGC	0.517000													16	132					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383857	109383857	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:109383857G>A	ENST00000283195.6	+	20	6988	c.6862G>A	c.(6862-6864)Ggg>Agg	p.G2288R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2288					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAATCAGAGTGGGACTTCAGT	0.388000													27	214					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629838	32629838	+	Silent	SNP	G	G	A	rs9280010		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32629838G>A	ENST00000399084.1	-	4	745	c.567C>T	c.(565-567)atC>atT	p.I189I	HLA-DQB1_ENST00000399079.3_Silent_p.I189I|HLA-DQB1_ENST00000434651.2_Silent_p.I189I|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399082.3_Silent_p.I99I|HLA-DQB1_ENST00000374943.4_Silent_p.I189I			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	189	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATCACCAGGATCTGGAAAG	0.582000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				15	79					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584137	179584137	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:179584137C>T	ENST00000589042.1	-	83	24204	c.23980G>A	c.(23980-23982)Gtg>Atg	p.V7994M	TTN_ENST00000591111.1_Missense_Mutation_p.V7677M|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6750M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7677	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGCATTCACGTCTTTCAGC	0.502000													11	140					0	0	1	0	0
RAB4A	5867	broad.mit.edu	37	1	229438699	229438699	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:229438699C>T	ENST00000366690.4	+	7	840	c.632C>T	c.(631-633)cCg>cTg	p.P211L	RAB4A_ENST00000473894.1_3'UTR	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	206							GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				GCACAGGCCCCGAACGCTCAG	0.582000													12	128					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057586	46057586	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:46057586C>T	ENST00000380095.1	+	1	314	c.252C>T	c.(250-252)tgC>tgT	p.C84C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	84	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGCCGGATTGCTGCACCTCCT	0.642000													29	180					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047823	160047823	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:160047823C>G	ENST00000327245.5	-	15	2793	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	649					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCTAAGCTCTCCCCGAGGT	0.557000													27	136					0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30633423	30633423	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:30633423C>T	ENST00000376442.3	-	5	949	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	252					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AACTCCTCATCAGCCAGCTCC	0.617000													16	106					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498128	73498128	+	Silent	SNP	G	G	A	rs140170248		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:73498128G>A	ENST00000321617.3	-	18	3613	c.3027C>T	c.(3025-3027)ttC>ttT	p.F1009F	CASKIN2_ENST00000433559.2_Silent_p.F927F	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1009	Pro-rich.					cytoplasm		p.F1009F(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCACTCCGAAGGCCAGCA	0.662000													25	96					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2602462	2602462	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:2602462C>T	ENST00000399655.1	+	7	1288	c.1023C>T	c.(1021-1023)caC>caT	p.H341H	CACNA1C_ENST00000335762.5_Silent_p.H341H|CACNA1C_ENST00000399617.1_Silent_p.H341H|CACNA1C_ENST00000399638.1_Silent_p.H341H|CACNA1C_ENST00000399595.1_Silent_p.H341H|CACNA1C_ENST00000344100.3_Silent_p.H341H|CACNA1C_ENST00000402845.3_Silent_p.H341H|CACNA1C_ENST00000406454.3_Silent_p.H341H|CACNA1C_ENST00000399603.1_Silent_p.H341H|CACNA1C_ENST00000399641.1_Silent_p.H341H|CACNA1C_ENST00000347598.4_Silent_p.H341H|CACNA1C_ENST00000399634.1_Silent_p.H341H|CACNA1C_ENST00000399644.1_Silent_p.H341H|CACNA1C_ENST00000399649.1_Silent_p.H341H|CACNA1C_ENST00000399601.1_Silent_p.H341H|CACNA1C_ENST00000327702.7_Silent_p.H341H|CACNA1C_ENST00000399591.1_Silent_p.H341H|CACNA1C_ENST00000399629.1_Silent_p.H341H|CACNA1C_ENST00000480911.1_Silent_p.H341H|CACNA1C_ENST00000399637.1_Silent_p.H341H|CACNA1C_ENST00000399606.1_Silent_p.H341H|CACNA1C_ENST00000399597.1_Silent_p.H341H|CACNA1C_ENST00000399621.1_Silent_p.H341H	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	341					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			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)	GTCCCAAGCACGGCATCACCA	0.612000													20	194					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94830337	94830337	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:94830337C>G	ENST00000262554.2	-	6	476	c.471G>C	c.(469-471)aaG>aaC	p.K157N	SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	157						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTTCTTCTGTCTTCATAAATT	0.343000													9	27					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461212	66461212	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:66461212G>A	ENST00000404260.3	+	29	6522	c.6214G>A	c.(6214-6216)Gag>Aag	p.E2072K	MAST4_ENST00000405643.1_Missense_Mutation_p.E1890K|MAST4_ENST00000403666.1_Missense_Mutation_p.E1880K|MAST4_ENST00000261569.7_Missense_Mutation_p.E1875K|MAST4_ENST00000403625.2_Missense_Mutation_p.E2069K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2072						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AATTCCCTGTGAGAAGGAGCT	0.617000													10	80					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100252740	100252740	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:100252740C>T	ENST00000160382.5	-	4	377	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	91					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCCCAGTCCTCGACTGGGGCC	0.597000													9	34					0	0	1	0	0
ATP8B5P	158381	broad.mit.edu	37	9	35450407	35450407	+	RNA	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:35450407G>A	ENST00000430846.1	+	0	3257																											AAATTGACTTGAGGTTTTTTT	0.338000													3	6					0	0	1	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483821	202483821	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202483821G>A	ENST00000439140.1	-	1	77	c.33C>T	c.(31-33)ttC>ttT	p.F11F	ALS2CR11_ENST00000450242.1_Silent_p.F11F|ALS2CR11_ENST00000286195.3_Silent_p.F11F|ALS2CR11_ENST00000439802.1_Silent_p.F11F	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	11										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAAGTGTGCTGAAAGGCCTAT	0.612000													7	112					0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89625374	89625374	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:89625374C>T	ENST00000402738.1	+	24	3022	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	HERC3_ENST00000264345.3_Missense_Mutation_p.S928L|HERC3_ENST00000543130.1_Missense_Mutation_p.S372L	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	928					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCCAGCCTTCAGAACTGAGG	0.458000													27	159					0	0	1	0	0
CCDC86	79080	broad.mit.edu	37	11	60609623	60609623	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:60609623G>A	ENST00000227520.5	+	1	80	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	9					interspecies interaction between organisms	nucleus		p.R9Q(1)		endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						AGGCGCAGCCGACGGCTGGGA	0.637000													4	20					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012916	189012916	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:189012916C>T	ENST00000512729.1	-	7	1149	c.775G>A	c.(775-777)Gac>Aac	p.D259N	TRIML2_ENST00000326754.3_Missense_Mutation_p.D284N	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	259	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TTTTCCACGTCCACCTCCCAG	0.597000													34	250					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74409245	74409245	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:74409245G>A	ENST00000286544.3	-	4	1486	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	FAM161B_ENST00000534936.1_Missense_Mutation_p.R367W	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						GGATTCACCCGAGGCTGGAAT	0.562000													38	207					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799876	27799876	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27799876C>A	ENST00000408964.2	+	1	488	c.437C>A	c.(436-438)tCt>tAt	p.S146Y		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	146										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCCCTAAATCTGCAAATTTG	0.383000													11	93					1.58986e-06	1.63465e-06	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12837451	12837451	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12837451C>T	ENST00000357726.4	+	3	1188	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	387										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGAACCTCATCTCCATGG	0.612000													27	217					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12520312	12520312	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12520312G>C	ENST00000358136.3	+	67	12653	c.12523G>C	c.(12523-12525)Gaa>Caa	p.E4175Q	VPS13D_ENST00000543766.1_Missense_Mutation_p.E173Q|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4150Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4174					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTGAAAACAGAAGGGGGTGT	0.488000													14	121					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202141586	202141586	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202141586C>T	ENST00000358485.4	+	7	1070	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	CASP8_ENST00000392258.3_Missense_Mutation_p.S211L|CASP8_ENST00000392259.2_Missense_Mutation_p.S211L|CASP8_ENST00000392266.3_Missense_Mutation_p.S196L|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.R250W|CASP8_ENST00000323492.7_Missense_Mutation_p.R218W|CASP8_ENST00000432109.2_Missense_Mutation_p.R233W	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	233					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AAGCAAACCTCGGGGATACTG	0.428000										HNSCC(4;0.00038)			12	63					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167358976	167358976	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:167358976G>A	ENST00000367862.5	+	9	1167	c.932G>A	c.(931-933)cGa>cAa	p.R311Q	POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.R259Q|POU2F1_ENST00000541643.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000420254.3_Missense_Mutation_p.R299Q|POU2F1_ENST00000367866.2_Missense_Mutation_p.R322Q	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	299	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AAACAAAGACGAATCAAACTT	0.483000													5	24					0	0	1	0	0
MRPS23	51649	broad.mit.edu	37	17	55927329	55927329	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:55927329G>A	ENST00000313608.8	-	1	88	c.44_splice	c.e1+1	p.R15_splice	MRPS23_ENST00000578444.1_Splice_Site_p.R15_splice	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	15					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					AGCACACACCGAGAGAAGATG	0.667000													3	15					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18280209	18280209	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:18280209C>G	ENST00000377369.2	+	8	1672	c.1399C>G	c.(1399-1401)Ctt>Gtt	p.L467V	SLC39A12_ENST00000539911.1_Missense_Mutation_p.L333V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.L467V|SLC39A12_ENST00000377374.4_Missense_Mutation_p.L467V	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	467					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATGTTTTATTCTTCTTGTATC	0.308000													5	49					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907710	12907710	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:12907710G>A	ENST00000317869.6	-	2	658	c.433C>T	c.(433-435)Cgt>Tgt	p.R145C		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AGACGTTGACGTTTCGAGGGC	0.488000													34	193					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21072088	21072088	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:21072088C>G	ENST00000375003.2	-	8	2359	c.859G>C	c.(859-861)Gat>Cat	p.D287H	HP1BP3_ENST00000312239.5_Missense_Mutation_p.D439H			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	439	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GATGACTCATCTTCATCTTCA	0.448000													14	88					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	603390	603390	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:603390C>T	ENST00000219611.2	+	14	3498	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		GCTTCTCTATCACCCACCGCC	0.677000													16	116					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128321964	128321964	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:128321964C>T	ENST00000265960.3	-	6	1128	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.E266K|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E74K|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E74K	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	266					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GAGTACTTTTCAACCAGGGCC	0.473000													11	89					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70357476	70357476	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:70357476G>C	ENST00000333646.6	+	40	6025	c.5826G>C	c.(5824-5826)caG>caC	p.Q1942H	MED12_ENST00000374080.3_Missense_Mutation_p.Q1939H|MED12_ENST00000374102.1_Missense_Mutation_p.Q1938H|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1939	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACGGTTTGCAGACTTCCCAGG	0.527000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						4	34					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63982159	63982159	+	Splice_Site	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:63982159G>C	ENST00000398590.3	+	12	3214	c.2661_splice	c.e12+1	p.Q887_splice	ATXN7_ENST00000487717.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000484332.1_Splice_Site_p.Q742_splice|ATXN7_ENST00000538065.1_Splice_Site_p.Q887_splice|ATXN7_ENST00000295900.6_Splice_Site_p.Q887_splice	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	887					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCCTTCATCAGGTAGGAAATG	0.493000													5	55					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375060	8375060	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:8375060G>C	ENST00000538603.1	-	7	1311	c.753C>G	c.(751-753)ctC>ctG	p.L251L	FAM90A1_ENST00000307435.6_Silent_p.L251L	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	251							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGACGGCCTGGAGCAGGCCGT	0.662000													9	158					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140631230	140631230	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:140631230C>T	ENST00000520439.1	-	2	459	c.396G>A	c.(394-396)atG>atA	p.M132I	KCNK9_ENST00000303015.1_Missense_Mutation_p.M132I			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	132						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			CGAAGGTGTTCATGCGCTCGC	0.582000													5	49					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23115565	23115565	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:23115565C>T	ENST00000397677.1	+	6	1459	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	CHMP7_ENST00000313219.7_Missense_Mutation_p.R271W|CHMP7_ENST00000520102.1_3'UTR	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	271					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGAAGCCCGCCGGGCATGCCG	0.572000													15	142					0	0	1	0	0
SLC25A33	84275	broad.mit.edu	37	1	9633463	9633463	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:9633463G>C	ENST00000302692.6	+	5	685	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	159					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		AATGCAGCTAGAACAGAAGTA	0.333000													4	28					0	0	1	0	0
BTBD6	90135	broad.mit.edu	37	14	105716824	105716824	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105716824G>A	ENST00000463376.2	+	3	1589	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	BRF1_ENST00000379937.2_Intron|BTBD6_ENST00000392554.3_Missense_Mutation_p.E425K|BTBD6_ENST00000327471.3_Missense_Mutation_p.E350K|BRF1_ENST00000546474.1_Intron|BRF1_ENST00000440513.3_Intron|BRF1_ENST00000327359.3_Intron|BTBD6_ENST00000536364.1_Missense_Mutation_p.E425K			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6	425						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		GGTCCAGGTTGAACAAGACAC	0.577000													19	72					0	0	1	0	0
TRAV34	28648	broad.mit.edu	37	14	22675976	22675976	+	RNA	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:22675976C>T	ENST00000390461.2	+	0	300																											CCCTGCATATCACAGCCTCCC	0.498000													14	45					0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	374409	374409	+	Silent	SNP	G	G	A	rs150793768		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:374409G>A	ENST00000342640.4	-	2	363	c.321C>T	c.(319-321)atC>atT	p.I107I	THEG_ENST00000346878.2_Silent_p.I107I	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	107					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCTGGCTGATGGACAGCC	0.592000													13	83					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157559097	157559097	+	Silent	SNP	G	G	A	rs150552645	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:157559097G>A	ENST00000271532.1	-	3	339	c.204C>T	c.(202-204)acC>acT	p.T68T		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	68	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CTGGGGTCAGGGTCAACTTTT	0.512000													11	71					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25773840	25773840	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:25773840C>T	ENST00000428257.1	-	9	1448	c.1341G>A	c.(1339-1341)tgG>tgA	p.W447*	NGLY1_ENST00000280700.5_Nonsense_Mutation_p.W465*|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000417874.2_Nonsense_Mutation_p.W423*|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Nonsense_Mutation_p.W465*	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	465					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GGGCTACTCTCCAAGCCACTG	0.413000													15	121					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138657676	138657676	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:138657676G>T	ENST00000394800.2	+	14	2241	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	MATR3_ENST00000509990.1_Silent_p.V564V|MATR3_ENST00000361059.2_Silent_p.V564V|MATR3_ENST00000394805.3_Silent_p.V564V|MATR3_ENST00000503811.1_Silent_p.V276V|MATR3_ENST00000504203.1_Silent_p.V226V|MATR3_ENST00000502499.1_Silent_p.V226V|MATR3_ENST00000502929.1_Silent_p.V564V|MATR3_ENST00000510056.1_Silent_p.V564V			P43243	MATR3_HUMAN	matrin 3	564	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGAGATGTGTGAAGGTTGACC	0.358000													15	97					6.31663e-08	6.55612e-08	1	1	0
CDK13	8621	broad.mit.edu	37	7	40027853	40027853	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:40027853G>A	ENST00000181839.4	+	2	2472	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.D623N	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	623					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TAAAGAAGCTGATAGGTAAGT	0.423000													12	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353843	113353843	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:113353843G>T	ENST00000297405.5	-	42	6759	c.6515C>A	c.(6514-6516)tCa>tAa	p.S2172*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S2102*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S2132*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S2068*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2172	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAGTTTCTGAGGATCCACT	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	48					0.00829132	0.0083485	1	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100489501	100489501	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:100489501C>T	ENST00000279907.7	-	7	996	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.E262K	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	262										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TCTATTGCTTCACTAAGAGAC	0.338000													5	50					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790328	80790328	+	Translation_Start_Site	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:80790328C>G	ENST00000269394.3	-	2	836	c.3G>C	c.(1-3)atG>atC	p.M1I	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	1						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGGAGACTCATTTTCCTCC	0.512000													13	52					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	30954193	30954193	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:30954193G>A	ENST00000375687.4	+	2	488	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.E22K|ASXL1_ENST00000375689.1_Missense_Mutation_p.E18K|ASXL1_ENST00000306058.5_Missense_Mutation_p.E18K	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	22					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCAGGTATTAGAAAACTACTC	0.373000			"""F, N, Mis"""		"""MDS, CMML"""								8	79					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:89717661C>A	ENST00000371953.3	+	7	2043	c.686C>A	c.(685-687)tCa>tAa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			13	119					2.27111e-07	2.3461e-07	1	1	0
FAT2	2196	broad.mit.edu	37	5	150947413	150947413	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:150947413G>C	ENST00000261800.5	-	1	1092	c.1080C>G	c.(1078-1080)ctC>ctG	p.L360L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	360					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTCGAATTTGAGGGAAGACA	0.552000													19	126					0	0	1	0	0
RNF121	55298	broad.mit.edu	37	11	71668297	71668297	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:71668297G>C	ENST00000361756.3	+	2	449	c.88G>C	c.(88-90)Gaa>Caa	p.E30Q	RNF121_ENST00000530137.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	30						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTCTCTCCAGAAGAGCAATG	0.438000													13	93					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42958929	42958929	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:42958929G>C	ENST00000331373.5	+	4	493	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		80						integral to membrane	ATP binding|protein kinase activity										GCTGAGAACAGAAGTGAGACA	0.502000													10	50					0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36401891	36401891	+	Splice_Site	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:36401891C>T	ENST00000255448.4	-	10	1499	c.1287_splice	c.e10-1	p.E430_splice	DCLK1_ENST00000379893.1_Splice_Site_p.E123_splice|DCLK1_ENST00000360631.3_Splice_Site_p.E430_splice	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	430	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATCATGTGCTCCTGTCCAAAG	0.398000													9	104					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470781	79470781	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:79470781G>A	ENST00000370742.3	-	2	209	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	49	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACCATTTCCTGAAAATCCCAT	0.378000													12	86					0	0	1	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32975186	32975186	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32975186C>T	ENST00000229829.5	-	3	590	c.515G>A	c.(514-516)cGc>cAc	p.R172H	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.R142H	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	172	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GTGGAACTTGCGGAACAAATG	0.597000													5	243					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128793	99128793	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:99128793G>C	ENST00000394170.2	+	7	1692	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.E481Q|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.E481Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	481					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAATATTCAGAAGCAGACAT	0.338000													10	262					0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130830799	130830799	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:130830799C>T	ENST00000373068.2	+	1	320	c.201C>T	c.(199-201)gtC>gtT	p.V67V	SLC25A25_ENST00000373069.5_Silent_p.V67V	NM_001006641.3	NP_001006642.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	100	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GCCTGTGTGTCAACGACCTGG	0.731000													6	49					0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99858883	99858883	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:99858883C>T	ENST00000333017.2	-	6	695	c.583G>A	c.(583-585)Gac>Aac	p.D195N	LYG2_ENST00000409238.1_Missense_Mutation_p.D195N	NM_175735.3	NP_783862.2	Q86SG7	LYG2_HUMAN	lysozyme G-like 2	195					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						TTGACGAAGTCATTGTCTATG	0.443000													13	163					0	0	1	0	0
ENOSF1	55556	broad.mit.edu	37	18	697244	697244	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:697244C>T	ENST00000251101.7	-	3	393	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000539164.1_Missense_Mutation_p.R102K|ENOSF1_ENST00000340116.7_Missense_Mutation_p.R123K	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	102					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CCTTACCCATCTGAGCTGCCC	0.448000													56	356					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17766143	17766143	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:17766143G>A	ENST00000581396.1	-	10	1050	c.954C>T	c.(952-954)gtC>gtT	p.V318V	TOM1L2_ENST00000478943.1_Silent_p.V101V|TOM1L2_ENST00000535933.1_Silent_p.V315V|TOM1L2_ENST00000379504.3_Silent_p.V368V|TOM1L2_ENST00000542206.1_Silent_p.V220V|TOM1L2_ENST00000540946.1_Silent_p.V270V|TOM1L2_ENST00000395739.4_Silent_p.V323V|TOM1L2_ENST00000318094.10_Silent_p.V323V	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	368					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GGGTGCCACTGACGCTCTCTG	0.527000													22	152					0	0	1	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449676	62449676	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:62449676G>A	ENST00000301998.4	+	2	573	c.321G>A	c.(319-321)acG>acA	p.T107T	B3GNT2_ENST00000405767.1_Silent_p.T107T	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	107						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CGGTGGTTACGGGTTTTAACA	0.493000													5	517					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423455	47423455	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:47423455G>A	ENST00000361866.3	+	35	2729	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	872	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CACGACGTGCGGGTGGCGGTG	0.697000													8	60					0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	774385	774385	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:774385C>T	ENST00000293889.6	-	9	995	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	297										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GTGGTAGCTGCGGGCAGCCCG	0.677000													4	150					0	0	1	0	0
C14orf119	55017	broad.mit.edu	37	14	23567289	23567289	+	Nonstop_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:23567289G>C	ENST00000319074.4	+	2	1278	c.422G>C	c.(421-423)tGa>tCa	p.*141S	C14orf119_ENST00000554203.1_Nonstop_Mutation_p.*141S	NM_017924.3	NP_060394.1	Q9NWQ9	CN119_HUMAN	chromosome 14 open reading frame 119	0										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		GGTAAGGACTGATAGGCATTC	0.468000													4	89					0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150748943	150748943	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:150748943G>A	ENST00000357922.4	+	7	1855	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	ASIC3_ENST00000349064.5_Missense_Mutation_p.E421K|ASIC3_ENST00000297512.8_Missense_Mutation_p.E421K	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	421					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										CCTCAACTATGAGACCGTGGA	0.612000													16	107					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32631191	32631191	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:32631191C>T	ENST00000242310.4	-	1	4476	c.4387G>A	c.(4387-4389)Gag>Aag	p.E1463K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1463	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTCTGAACTCTTCCCGAGAT	0.448000													89	182					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161118948	161118948	+	Splice_Site	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:161118948G>A	ENST00000523217.1	+	8	1040	c.796_splice	c.e8-1	p.G266_splice	GABRA6_ENST00000274545.5_Splice_Site_p.G276_splice	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATTTTAGGGATCACCACTG	0.388000										TCGA Ovarian(5;0.080)			16	124					0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21512181	21512181	+	RNA	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:21512181C>G	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1																						CTTGCCTCCTCTCCAGTTCCA	0.453000													13	77					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248309153	248309153	+	Missense_Mutation	SNP	G	G	A	rs145157861	byFrequency	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:248309153G>A	ENST00000366476.1	+	1	704	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAGGGTCGTCGCAAAGCTTTT	0.468000													5	309					0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105609893	105609893	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:105609893C>T	ENST00000331782.3	-	25	3570	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	JAG2_ENST00000347004.2_Missense_Mutation_p.R1018Q	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1056					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGTTCCCCCGCTGGGTGAT	0.677000													6	20					0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155058671	155058671	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:155058671C>T	ENST00000368408.3	+	4	646	c.576C>T	c.(574-576)atC>atT	p.I192I	EFNA3_ENST00000505139.1_Silent_p.I187I|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000556931.1_Silent_p.I187I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	192					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGTGAAGATCAACGTGCTGG	0.697000											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	37					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909130	101909130	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:101909130C>T	ENST00000537097.1	+	6	1102	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.Q97*|GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.Q97*|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	97						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATGTGGGCTCAGCCCAGGTT	0.493000													19	259					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72020069	72020069	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:72020069A>G	ENST00000378743.3	-	22	4646	c.4288T>C	c.(4288-4290)Tat>Cat	p.Y1430H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1430					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCTGGAGCATATTCAACAGCT	0.388000													15	121					0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113951501	113951501	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:113951501G>A	ENST00000245796.6	+	10	2352	c.2157G>A	c.(2155-2157)ggG>ggA	p.G719G	PSD4_ENST00000441564.2_Silent_p.G691G	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	719	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGATGGCGGGAACTTCCCCA	0.537000													10	86					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27221654	27221654	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:27221654G>A	ENST00000286096.4	+	2	383	c.210G>A	c.(208-210)gtG>gtA	p.V70V	KDM8_ENST00000441782.2_Silent_p.V108V|KDM8_ENST00000380948.2_Silent_p.V70V|KDM8_ENST00000568965.1_Silent_p.V70V	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	70					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GCAGCGAGGTGATCCTGGACT	0.607000													6	76					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11308547	11308547	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:11308547C>T	ENST00000380732.3	-	2	639	c.640G>A	c.(640-642)Gat>Aat	p.D214N	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380718.1_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGATGTGTATCGGAATTCATC	0.393000													17	89					0	0	1	0	0
TMEM50B	757	broad.mit.edu	37	21	34839412	34839412	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:34839412C>T	ENST00000542230.2	-	3	331	c.117G>A	c.(115-117)tgG>tgA	p.W39*		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	39						endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						CAATCATTATCCACCAGCCTG	0.398000													9	44					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65734019	65734019	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:65734019G>C	ENST00000312397.5	+	9	1272	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	394					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTCACGCCTGAGGAGATGGT	0.677000													4	15					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148558549	148558549	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:148558549G>A	ENST00000491148.1	+	5	683	c.349G>A	c.(349-351)Gag>Aag	p.E117K	CPB1_ENST00000282957.4_Missense_Mutation_p.E117K			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	117					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACACAGTTATGAGAAGTACAA	0.428000													5	135					0	0	1	0	0
CASP8	841	broad.mit.edu	37	2	202149679	202149679	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:202149679C>G	ENST00000358485.4	+	8	1316	c.1120C>G	c.(1120-1122)Ctc>Gtc	p.L374V	CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.L231V|CASP8_ENST00000264275.5_Missense_Mutation_p.L332V|CASP8_ENST00000323492.7_Missense_Mutation_p.L300V|CASP8_ENST00000432109.2_Missense_Mutation_p.L315V	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	315					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGCTGTATCCTCTCCCATGG	0.488000										HNSCC(4;0.00038)			20	153					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43559286	43559286	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:43559286C>T	ENST00000255136.3	+	8	1240	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Silent_p.L386L|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000490798.1_3'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	386							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCAGCGCCTCTCCACCATGC	0.647000													43	291					0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62575962	62575962	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:62575962G>T	ENST00000369908.5	-	6	1034	c.735C>A	c.(733-735)gtC>gtA	p.V245V	UCKL1_ENST00000369892.3_Silent_p.V260V|UCKL1_ENST00000358711.3_Silent_p.V260V|UCKL1_ENST00000354216.6_Silent_p.V260V	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	260					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGGAGGGCTTGACAAACTTGT	0.632000													5	31					0.0215528	0.0216021	1	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2																						GATGGGACAGGTGAGTTCCCT	0.483000													5	134					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161300263	161300263	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:161300263G>A	ENST00000428797.2	+	6	751	c.396G>A	c.(394-396)aaG>aaA	p.K132K	GABRA1_ENST00000437025.2_Silent_p.K132K|GABRA1_ENST00000023897.6_Silent_p.K132K|GABRA1_ENST00000444819.1_Silent_p.K132K|GABRA1_ENST00000420560.1_Silent_p.K132K|GABRA1_ENST00000393943.4_Silent_p.K132K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	132				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ACAATGGAAAGAAGTCAGTGG	0.463000													8	72					0	0	1	0	0
CHMP4C	92421	broad.mit.edu	37	8	82667666	82667666	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:82667666G>A	ENST00000297265.4	+	3	623	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	144	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TATCGCCCAAGAAATCTCAGA	0.378000													20	97					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323123	136323123	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:136323123C>T	ENST00000371929.3	+	28	4428	c.3984C>T	c.(3982-3984)ttC>ttT	p.F1328F	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Silent_p.F1241F|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Silent_p.F1272F|ADAMTS13_ENST00000371910.1_Silent_p.F124F	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1328	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCGGCTCTTCATTAATGTGG	0.612000													4	79					0	0	1	0	0
SLC37A4	2542	broad.mit.edu	37	11	118895758	118895758	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:118895758G>A	ENST00000545985.1	-	11	1908	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	TRAPPC4_ENST00000533058.1_Silent_p.*258*|SLC37A4_ENST00000357590.5_Silent_p.F406F|SLC37A4_ENST00000330775.7_Silent_p.F405F|SLC37A4_ENST00000538950.1_Silent_p.F311F|SLC37A4_ENST00000525102.1_5'UTR	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	384					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CAATGGTGCTGAAGGGCAGCC	0.567000													10	97					0	0	1	0	0
SNX16	64089	broad.mit.edu	37	8	82752106	82752106	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:82752106G>A	ENST00000396330.2	-	3	622	c.116C>T	c.(115-117)tCt>tTt	p.S39F	SNX16_ENST00000353788.4_Missense_Mutation_p.S39F|SNX16_ENST00000345957.4_Missense_Mutation_p.S39F	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	39					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						GCCCTTAGAAGAATTTGAGCT	0.398000													19	108					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2020512	2020512	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:2020512C>T	ENST00000262113.4	+	9	1022	c.881C>T	c.(880-882)aCg>aTg	p.T294M	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	294	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.T294M(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAAGGCGAGACGGTCACTCTC	0.607000													11	56					0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41188818	41188818	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:41188818G>A	ENST00000252891.4	-	4	472	c.305C>T	c.(304-306)gCg>gTg	p.A102V	NUMBL_ENST00000540131.1_Missense_Mutation_p.A61V|NUMBL_ENST00000598779.1_Missense_Mutation_p.A61V	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	102	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTTCTTCACCGCATCTTCACA	0.617000													4	137					0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578122	48578122	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:48578122C>T	ENST00000316554.3	+	1	757	c.217C>T	c.(217-219)Cag>Tag	p.Q73*		NM_001013635.3	NP_001013657.3	Q52MB2	CL068_HUMAN	chromosome 12 open reading frame 68	73						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTCGCACATCCAGGTGCTCTC	0.647000													14	58					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683120	20683120	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:20683120G>T	ENST00000404938.2	+	7	1195	c.543G>T	c.(541-543)aaG>aaT	p.K181N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	367					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTGGAGATAAGATTGCTCTGT	0.393000													20	103					2.37509e-13	2.4947e-13	1	1	0
STRC	161497	broad.mit.edu	37	15	43893683	43893683	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:43893683G>C	ENST00000450892.2	-	24	4689	c.4612C>G	c.(4612-4614)Cta>Gta	p.L1538V	STRC_ENST00000541030.1_Missense_Mutation_p.L765V	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1538					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CGATCTCCTAGACCTATTAAG	0.537000													12	81					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4529176	4529176	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:4529176C>T	ENST00000381848.3	-	5	509	c.429G>A	c.(427-429)ctG>ctA	p.L143L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	143						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGAGCGCTTCAGCTCCACGC	0.627000													30	202					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31021384	31021384	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:31021384G>C	ENST00000375687.4	+	12	1807	c.1383G>C	c.(1381-1383)ctG>ctC	p.L461L	ASXL1_ENST00000306058.5_Silent_p.L456L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	461					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGCAGGGCTGAGCAGTCCCC	0.582000			"""F, N, Mis"""		"""MDS, CMML"""								31	182					0	0	1	0	0
H2AFJ	55766	broad.mit.edu	37	12	14927629	14927629	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:14927629G>C	ENST00000544848.1	+	1	360	c.225G>C	c.(223-225)aaG>aaC	p.K75N		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	75					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						GTGACAACAAGAAGACCAGGA	0.647000													7	143					0	0	1	0	0
ENDOV	284131	broad.mit.edu	37	17	78396012	78396012	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:78396012C>T	ENST00000518137.1	+	4	398	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F	ENDOV_ENST00000517295.2_Missense_Mutation_p.L41F|ENDOV_ENST00000522751.1_5'UTR|ENDOV_ENST00000518901.1_5'UTR|ENDOV_ENST00000323854.5_Missense_Mutation_p.L79F|ENDOV_ENST00000520284.1_Intron|ENDOV_ENST00000520367.1_Missense_Mutation_p.L79F|ENDOV_ENST00000518644.1_Missense_Mutation_p.L41F|ENDOV_ENST00000517795.1_Intron|ENDOV_ENST00000518907.1_Intron	NM_173627.3	NP_775898.2	Q8N8Q3	ENDOV_HUMAN	endonuclease V	124					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						ATAGGTCCTTCTTGTGGATGG	0.627000								Direct reversal of damage					7	30					0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755636	10755636	+	Silent	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:10755636G>C	ENST00000416569.2	-	3	1778	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	XKR6_ENST00000304437.2_Silent_p.L305L	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	584						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CAATCTTAATGAGGGGCCCTT	0.522000													11	71					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38529114	38529114	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:38529114G>A	ENST00000399017.2	+	28	5645	c.2898G>A	c.(2896-2898)ttG>ttA	p.L966L	TTC3_ENST00000355666.1_Silent_p.L966L|TTC3_ENST00000354749.2_Silent_p.L966L|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	966					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCATCATTGAAGGAAGCCC	0.373000													17	115					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31859948	31859948	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:31859948G>A	ENST00000397525.1	-	5	527	c.304C>T	c.(304-306)Cga>Tga	p.R102*	EIF4ENIF1_ENST00000397523.1_Nonsense_Mutation_p.R102*|RP11-247I13.11_ENST00000464523.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000330125.5_Nonsense_Mutation_p.R102*|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	102						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ACACGCTCTCGTGGATCTGGA	0.502000													4	88					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52725429	52725429	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:52725429C>T	ENST00000399231.3	-	2	324	c.81G>A	c.(79-81)ctG>ctA	p.L27L	MYO5A_ENST00000553916.1_Silent_p.L27L|MYO5A_ENST00000356338.6_Silent_p.L27L|MYO5A_ENST00000358212.6_Silent_p.L27L|MYO5A_ENST00000399233.2_Silent_p.L27L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	27	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AATCTTTGAGCAGCTCTGCTG	0.393000													9	69					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11100024	11100024	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:11100024G>A	ENST00000358026.2	+	7	1434	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	SMARCA4_ENST00000429416.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E384K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E384K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E384K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E384K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E384K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	384					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAATTCAGGAACTTGAAAA	0.607000			"""F, N, Mis"""		NSCLC								18	150					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918731	43918731	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43918731G>A	ENST00000336086.6	-	4	2438	c.202C>T	c.(202-204)Ccc>Tcc	p.P68S	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.P68S|URGCP_ENST00000453200.1_Missense_Mutation_p.P111S|URGCP_ENST00000443736.1_Missense_Mutation_p.P68S|URGCP_ENST00000223341.7_Missense_Mutation_p.P68S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Missense_Mutation_p.P102S			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	111					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGTCTTTGGGAACCTGAGGG	0.547000													8	105					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12817099	12817099	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:12817099A>G	ENST00000425528.1	-	15	1936	c.1579T>C	c.(1579-1581)Ttt>Ctt	p.F527L	TNPO2_ENST00000441499.1_Missense_Mutation_p.F527L|TNPO2_ENST00000450764.2_Missense_Mutation_p.F527L|TNPO2_ENST00000592287.1_Missense_Mutation_p.F527L|TNPO2_ENST00000588216.1_Missense_Mutation_p.F527L|TNPO2_ENST00000356861.5_Missense_Mutation_p.F527L			O14787	TNPO2_HUMAN	transportin 2	527					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATTTCCCAAAGGCAAAGACA	0.592000													10	83					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152818725	152818725	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:152818725G>A	ENST00000370186.1	+	11	2340	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	ATP2B3_ENST00000393842.1_Missense_Mutation_p.E672K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E672K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E686K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E686K|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E686K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	686					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGCGGCCCGAGGTAGCCAC	0.627000													11	76					0	0	1	0	0
CTAGE5	4253	broad.mit.edu	37	14	39771434	39771434	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:39771434G>A	ENST00000553728.1	+	14	2715	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	CTAGE5_ENST00000396165.4_Silent_p.S270S|CTAGE5_ENST00000396158.2_Silent_p.S304S|CTAGE5_ENST00000557038.1_Silent_p.S219S|CTAGE5_ENST00000341749.3_Silent_p.S287S|CTAGE5_ENST00000280083.3_Silent_p.S299S|CTAGE5_ENST00000553352.1_Silent_p.S270S|CTAGE5_ENST00000556148.1_Silent_p.S224S|CTAGE5_ENST00000348007.3_Silent_p.S299S|RP11-407N17.3_ENST00000603904.1_Silent_p.S270S|CTAGE5_ENST00000341502.5_Silent_p.S299S																							ACAGTGAATCGGAAAATGGTG	0.398000													4	195					0	0	1	0	0
ZNF436-AS1	148898	broad.mit.edu	37	1	23695932	23695932	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:23695932C>A	ENST00000335648.3	+	1	204	c.142C>A	c.(142-144)Cag>Aag	p.Q48K	C1orf213_ENST00000437367.2_Missense_Mutation_p.Q48K|C1orf213_ENST00000458053.1_Intron|ZNF436_ENST00000314011.4_5'UTR|C1orf213_ENST00000454117.1_Missense_Mutation_p.Q48K|C1orf213_ENST00000518821.1_Intron																kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCCAGAGCCGCAGCGTTCTCT	0.572000													9	73					0.00448238	0.00453414	1	1	0
C1S	716	broad.mit.edu	37	12	7173187	7173187	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:7173187G>A	ENST00000406697.1	+	10	1412	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	C1S_ENST00000328916.3_Missense_Mutation_p.E262K|C1S_ENST00000402681.3_Missense_Mutation_p.E95K|C1S_ENST00000360817.5_Missense_Mutation_p.E262K			P09871	C1S_HUMAN	complement component 1, s subcomponent	262	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCTAAATATTGAAACCAAGAG	0.413000													16	92					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2596827	2596827	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:2596827G>C	ENST00000358864.1	+	15	1932	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	639						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTGGGTTTGATCTTCAACC	0.438000													7	52					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219115	134219115	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:134219115G>T	ENST00000305233.5	+	2	1170	c.1111G>T	c.(1111-1113)Gac>Tac	p.D371Y	PWWP2B_ENST00000368609.4_Missense_Mutation_p.D371Y	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	371										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCCTGTGCGGACGGCCCTGC	0.692000													16	112					1.02788e-11	1.07449e-11	1	1	0
AGPAT3	56894	broad.mit.edu	37	21	45402220	45402220	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:45402220G>C	ENST00000398063.2	+	9	1570	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000327505.2_Missense_Mutation_p.E360Q|AGPAT3_ENST00000291572.8_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398058.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000546158.1_Missense_Mutation_p.E360Q|AGPAT3_ENST00000398061.1_Missense_Mutation_p.E360Q	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	360				VTEIEKGSSYGNQEFKKKE -> ESLEPGRWRLQ (in Ref. 3; AAQ89067).	phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGAGTAACTGAGATAGAAAA	0.453000													32	251					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34139817	34139817	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:34139817G>A	ENST00000257829.3	+	7	854	c.648G>A	c.(646-648)atG>atA	p.M216I	NAT10_ENST00000531159.2_Missense_Mutation_p.M144I|NAT10_ENST00000527971.1_Missense_Mutation_p.M216I	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	216						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TTGCCACCATGGAGGCCCTGC	0.547000													8	77					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84520502	84520502	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:84520502G>A	ENST00000343629.6	-	5	875	c.693C>T	c.(691-693)gtC>gtT	p.V231V	TLDC1_ENST00000535580.1_Silent_p.V204V	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		GACGCTCAGGGACCAGGGTAG	0.572000													11	59					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32750671	32750671	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:32750671C>T	ENST00000421745.2	+	59	12030	c.11896C>T	c.(11896-11898)Cac>Tac	p.H3966Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3966					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCAGTGTTTCACCTGTTTCA	0.423000													11	44					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55721532	55721532	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:55721532C>T	ENST00000373965.2	-	23	3404	c.3010G>A	c.(3010-3012)Gaa>Aaa	p.E1004K	PCDH15_ENST00000395433.1_Missense_Mutation_p.E975K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1004K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E608K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E926K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.E997K|PCDH15_ENST00000395430.1_Missense_Mutation_p.E997K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E960K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E997K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1002K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.E997K|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	997	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGTAGGTTCTTCATTAAGA	0.343000										HNSCC(58;0.16)			5	74					0	0	1	0	0
MFSD1	64747	broad.mit.edu	37	3	158519957	158519957	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:158519957G>A	ENST00000415822.2	+	1	304	c.163G>A	c.(163-165)Gag>Aag	p.E55K	MFSD1_ENST00000264266.8_Missense_Mutation_p.E6K|MFSD1_ENST00000392813.4_Missense_Mutation_p.E55K	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	6					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGAGGAGGATGAGGAAGCGCG	0.697000													3	32					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77941989	77941989	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:77941989G>A	ENST00000393684.3	-	8	1792	c.1401C>T	c.(1399-1401)aaC>aaT	p.N467N	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000429906.1_Silent_p.N474N|ISM2_ENST00000412904.1_Silent_p.N474N|ISM2_ENST00000342219.4_Silent_p.N555N			Q6H9L7	ISM2_HUMAN	isthmin 2	555	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CCTCCAGGGGGTTGTCGGTGC	0.632000													12	127					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53563110	53563110	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:53563110C>T	ENST00000342160.3	-	79	12986	c.12529G>A	c.(12529-12531)Gag>Aag	p.E4177K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4177K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4177	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.E4067K(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGACCTACCTCAGTGCTGAAG	0.458000													7	32					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43635615	43635615	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43635615G>A	ENST00000319357.5	+	2	501	c.322G>A	c.(322-324)Gag>Aag	p.E108K	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	108	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AATAATTCATGAGATTGCTGT	0.348000													15	83					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473776	64473776	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:64473776C>T	ENST00000358025.3	+	31	4643	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I	SYNE2_ENST00000554584.1_Silent_p.I1471I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.I1471I	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1471					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCATTAATCAGACTGGATA	0.353000													20	105					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34090925	34090925	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:34090925C>G	ENST00000397527.1	+	30	5448	c.4728C>G	c.(4726-4728)atC>atG	p.I1576M	CEP250_ENST00000342580.4_Missense_Mutation_p.I1520M	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1576	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAAAACTGATCAAGGAGCTGG	0.542000													3	52					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238785	48238785	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:48238785C>T	ENST00000309562.2	+	1	442	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142M(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGTCACCTTCTGGTGGCTGG	0.458000													18	113					0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50029170	50029170	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:50029170G>A	ENST00000261897.1	+	13	1656	c.1105G>A	c.(1105-1107)Gag>Aag	p.E369K	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E375K|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E397K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	375					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GACCTTTGGGGAGCTGGAGGT	0.532000													22	164					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	78					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5567507	5567507	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:5567507C>T	ENST00000331789.5	-	6	1191	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	334					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACTTGCGCTCAGGAGGAGCA	0.627000													18	124					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918732	43918732	+	Silent	SNP	A	A	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:43918732A>C	ENST00000336086.6	-	4	2437	c.201T>G	c.(199-201)gtT>gtG	p.V67V	RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.V67V|URGCP_ENST00000453200.1_Silent_p.V110V|URGCP_ENST00000443736.1_Silent_p.V67V|URGCP_ENST00000223341.7_Silent_p.V67V|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000402306.3_Silent_p.V101V			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	110					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTTTGGGAACCTGAGGGG	0.542000													9	109					0	0	1	0	0
FAM161B	145483	broad.mit.edu	37	14	74409110	74409110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:74409110G>A	ENST00000286544.3	-	4	1621	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	FAM161B_ENST00000534936.1_Nonsense_Mutation_p.Q412*	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CAGGGCCGCTGAGGGTGGCGC	0.622000													21	124					0	0	1	0	0
MIR31HG	554202	broad.mit.edu	37	9	21512171	21512171	+	RNA	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:21512171C>G	ENST00000304425.3	-	0	181				MIR31_ENST00000362307.1_RNA	NR_027054.1																						ATGCCAGCATCTTGCCTCCTC	0.473000													16	97					0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85128181	85128181	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:85128181C>T	ENST00000437941.2	-	6	977	c.625G>A	c.(625-627)Gat>Aat	p.D209N	SSX2IP_ENST00000370612.4_Missense_Mutation_p.D236N|SSX2IP_ENST00000342203.3_Missense_Mutation_p.D236N|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000605755.1_Missense_Mutation_p.D209N	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	236					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTTTTTCCATCAGCTCTCCCG	0.358000													9	71					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10410439	10410439	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:10410439G>A	ENST00000379613.3	-	2	437	c.181C>T	c.(181-183)Ccc>Tcc	p.P61S	TFAP2A_ENST00000379604.2_Missense_Mutation_p.P59S|TFAP2A_ENST00000379608.3_Missense_Mutation_p.P53S|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000497266.1_Intron|TFAP2A_ENST00000319516.4_Missense_Mutation_p.P55S|TFAP2A_ENST00000482890.1_Missense_Mutation_p.P59S			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	59	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				TAGGGTGGGGGGAAGTATGGG	0.657000													21	85					0	0	1	0	0
MED18	54797	broad.mit.edu	37	1	28660984	28660984	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:28660984G>A	ENST00000373842.4	+	3	339	c.130G>A	c.(130-132)Gac>Aac	p.D44N	MED18_ENST00000479574.1_3'UTR|MED18_ENST00000398997.2_Missense_Mutation_p.D44N	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	44					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTTTGTGTGACAACATGGA	0.483000													49	279					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291314	22291314	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383000													15	79					0	0	1	0	0
CTD-2090I13.1	0	broad.mit.edu	37	1	227618263	227618263	+	RNA	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:227618263C>T	ENST00000445817.1	+	0	1498																											CCAGCATATTCTGCGAGTACT	0.498000													11	68					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46679238	46679238	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:46679238C>G	ENST00000274793.7	-	7	854	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	PLA2G7_ENST00000541026.1_Missense_Mutation_p.E93Q|PLA2G7_ENST00000538237.1_Missense_Mutation_p.E175Q|PLA2G7_ENST00000537365.1_Missense_Mutation_p.E220Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	220					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TGTACCTGCTCATTTCGTATA	0.408000													5	135					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35615256	35615256	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:35615256G>A	ENST00000540320.1	+	2	1015	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	NBEA_ENST00000310336.4_Missense_Mutation_p.E161K|NBEA_ENST00000379939.2_Missense_Mutation_p.E161K|NBEA_ENST00000400445.3_Missense_Mutation_p.E161K			Q8NFP9	NBEA_HUMAN	neurobeachin	161						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGGGCTAATTGAACAAGTATT	0.368000													5	48					0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74948152	74948152	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:74948152C>T	ENST00000315127.4	-	4	923	c.742G>A	c.(742-744)Gag>Aag	p.E248K	EDC3_ENST00000568176.1_Missense_Mutation_p.E248K|EDC3_ENST00000426797.3_Missense_Mutation_p.E248K	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	248	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						AAGATGTTCTCATCATGGCGG	0.537000													12	73					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86491153	86491153	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:86491153C>T	ENST00000165698.5	-	3	260	c.117G>A	c.(115-117)atG>atA	p.M39I	REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Missense_Mutation_p.M39I|REEP1_ENST00000540790.1_Missense_Mutation_p.M18I|REEP1_ENST00000538924.1_Missense_Mutation_p.M46I|REEP1_ENST00000535845.1_Missense_Mutation_p.M12I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	39					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGTACATCATCCATTTGA	0.458000													13	101					0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120768299	120768299	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:120768299G>A	ENST00000378164.2	-	22	3123	c.2825C>T	c.(2824-2826)tCt>tTt	p.S942F	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175.1	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	942					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GCATAAGGGAGACTCCATGTT	0.328000													7	54					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238630	104238630	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:104238630C>T	ENST00000374851.1	-	4	1892	c.745G>A	c.(745-747)Gag>Aag	p.E249K	TMEM246_ENST00000374847.1_Missense_Mutation_p.E249K|TMEM246_ENST00000374848.3_Missense_Mutation_p.E249K|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	249						integral to membrane		p.E249K(1)									TGGAGCCTCTCGGGGTGATAC	0.537000													4	131					0	0	1	0	0
PPDPF	79144	broad.mit.edu	37	20	62153098	62153098	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:62153098G>A	ENST00000370179.3	+	4	407	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	PPDPF_ENST00000370177.1_Missense_Mutation_p.V97M|PPDPF_ENST00000473620.1_3'UTR	NM_024299.2	NP_077275.1	Q9H3Y8	PPDPF_HUMAN	pancreatic progenitor cell differentiation and proliferation factor	71					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						CATGGCCACGGTGTTGGAGTC	0.657000													10	50					0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126511	32126511	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:32126511C>T	ENST00000265070.6	-	4	1019	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	235					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.R235H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GGCCAGCAAGCGCCTGTCCAT	0.517000													8	98					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22020498	22020498	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:22020498G>A	ENST00000284202.4	+	6	547	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	136										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGAAGATGTTGAATGTGAAGA	0.358000													22	103					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287510	62287510	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:62287510G>A	ENST00000378024.4	-	5	14653	c.14379C>T	c.(14377-14379)ttC>ttT	p.F4793F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4793					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTCCTTTGAAGCCAGGCA	0.517000													53	341					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88892873	88892873	+	Missense_Mutation	SNP	G	G	A	rs139160202		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:88892873G>A	ENST00000556553.1	+	6	1133	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SPATA7_ENST00000393545.4_Missense_Mutation_p.D224N|SPATA7_ENST00000045347.7_Missense_Mutation_p.D224N|SPATA7_ENST00000356583.5_Missense_Mutation_p.D192N			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	224					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						ACCCAGTGGGGATCTTTTGGA	0.448000													15	95					0	0	1	0	0
STX18	53407	broad.mit.edu	37	4	4543550	4543550	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:4543550C>T	ENST00000306200.2	-	1	205	c.142G>A	c.(142-144)Gac>Aac	p.D48N	STX18_ENST00000505286.1_Missense_Mutation_p.D48N	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	48					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CTGGAGAAGTCGCCCTTGGGC	0.711000													4	45					0	0	1	0	0
C1GALT1C1	29071	broad.mit.edu	37	X	119760659	119760659	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:119760659C>G	ENST00000304661.5	-	2	601	c.363G>C	c.(361-363)atG>atC	p.M121I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M121I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	121						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CTTTTCTCATCATTAACCACA	0.373000													16	94					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445932	128445932	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:128445932C>T	ENST00000297788.4	+	7	1433	c.1066C>T	c.(1066-1068)Cag>Tag	p.Q356*	CCDC136_ENST00000464832.1_Nonsense_Mutation_p.Q406*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.Q394*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.Q356*	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	356						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTTCGGTTTCAGACCTCCCA	0.612000													9	38					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50916500	50916500	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:50916500C>T	ENST00000374112.3	+	3	323	c.311C>T	c.(310-312)cCt>cTt	p.P104L	C10orf53_ENST00000535836.1_Missense_Mutation_p.P104L	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				aaagtttctcctttgcaacag	0.493000													14	170					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459417	122459417	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:122459417C>G	ENST00000306103.2	-	8	1385	c.1242G>C	c.(1240-1242)ggG>ggC	p.G414G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	414						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGTCTTTCCCATCACTTC	0.468000													21	161					0	0	1	0	0
RNF4	6047	broad.mit.edu	37	4	2514856	2514856	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:2514856G>A	ENST00000511600.1	+	7	1936	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RNF4_ENST00000541204.1_Missense_Mutation_p.E141K|RNF4_ENST00000314289.8_Missense_Mutation_p.E141K|RNF4_ENST00000506706.1_Missense_Mutation_p.E141K|RNF4_ENST00000511859.1_Silent_p.Q87Q			P78317	RNF4_HUMAN	ring finger protein 4	141					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination|regulation of kinetochore assembly|regulation of spindle assembly|response to arsenic-containing substance	cytoplasm|PML body	androgen receptor binding|DNA binding|nucleosome binding|sequence-specific DNA binding transcription factor activity|SUMO polymer binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				CGGATACTCAGAGGTAAGTAA	0.458000													33	266					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144871748	144871748	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:144871748G>T	ENST00000369359.4	-	35	5660	c.5622C>A	c.(5620-5622)tcC>tcA	p.S1874S	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.S1738S|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Silent_p.S1738S|PDE4DIP_ENST00000530740.1_Silent_p.S1823S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1738					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCAGCCAAGGAGACCACTG	0.582000			T	PDGFRB	MPD								9	166					0.00829132	0.0083485	1	1	0
ZNF148	7707	broad.mit.edu	37	3	124952001	124952001	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:124952001C>T	ENST00000360647.4	-	9	2054	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Silent_p.L523L|ZNF148_ENST00000484491.1_Silent_p.L523L|ZNF148_ENST00000485866.1_Silent_p.L523L	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	523					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACATTCAGTGCCTGTG	0.428000													24	149					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56867258	56867258	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56867258G>A	ENST00000564887.1	+	11	1737	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	NUP93_ENST00000569842.1_Missense_Mutation_p.A493T|NUP93_ENST00000308159.5_Missense_Mutation_p.A493T|NUP93_ENST00000542526.1_Missense_Mutation_p.A370T	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	493					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGTCCATGTAGCACTGGTGCT	0.507000													13	86					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	90982576	90982576	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:90982576C>G	ENST00000268182.5	+	6	604	c.480C>G	c.(478-480)ttC>ttG	p.F160L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	160					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TGTACCTGTTCAAGCTAGGCC	0.433000													4	39					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167248966	167248966	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:167248966C>G	ENST00000308378.3	-	9	1404	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q	WDR49_ENST00000476376.1_Missense_Mutation_p.E192Q|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.E431Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	367										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TTTTTGCCCTCAGTGTCAATC	0.408000													7	72					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719521	145719521	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:145719521C>T	ENST00000230732.4	+	2	620	c.531C>T	c.(529-531)ctC>ctT	p.L177L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	177					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGCATGCCTCAGCGACGTGG	0.692000													6	87					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368749	40368749	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:40368749C>T	ENST00000221347.6	-	28	12606	c.12599G>A	c.(12598-12600)cGg>cAg	p.R4200Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4200	VWFD 10.					extracellular region	protein binding	p.R4200L(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGTCTACCCGCCAGTTCCA	0.607000													5	196					0	0	1	0	0
SSX1	6756	broad.mit.edu	37	X	48117231	48117231	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:48117231G>A	ENST00000376919.3	+	3	256	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	40	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GGAAAAAGATGAAATACTCGG	0.358000			T	SS18	synovial sarcoma								4	50					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113376843	113376843	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:113376843G>C	ENST00000316407.4	-	7	4096	c.3686C>G	c.(3685-3687)tCa>tGa	p.S1229*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.S1229*	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1229					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTGAGAAGTTGAATCCTGTAA	0.433000													6	76					0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212154494	212154494	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:212154494C>T	ENST00000366994.3	-	10	1275	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	INTS7_ENST00000440600.2_Missense_Mutation_p.E342K|INTS7_ENST00000366992.3_Missense_Mutation_p.E391K|INTS7_ENST00000366993.3_Missense_Mutation_p.E391K|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	391					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		AGTAGGGATTCCAGGCCAAAG	0.363000													8	61					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40839868	40839868	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:40839868G>A	ENST00000264638.4	+	8	1392	c.1175G>A	c.(1174-1176)tGg>tAg	p.W392*	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	392	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTCCGCACCTGGGACCTCACC	0.642000													18	72					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180794073	180794073	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:180794073C>G	ENST00000367590.4	+	8	1146	c.948C>G	c.(946-948)ctC>ctG	p.L316L	XPR1_ENST00000367589.3_Silent_p.L316L	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	316						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATCAACATCTCTTTGAGGTAA	0.388000													6	37					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32407278	32407278	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:32407278C>G	ENST00000379923.1	+	4	323	c.117C>G	c.(115-117)atC>atG	p.I39M	ACO1_ENST00000309951.5_Missense_Mutation_p.I39M|ACO1_ENST00000541043.1_5'UTR	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	39					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CATTTTCGATCAGAGTTCTTC	0.383000													20	143					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72348967	72348967	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:72348967C>G	ENST00000389916.4	+	15	2126	c.1988C>G	c.(1987-1989)tCc>tGc	p.S663C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	663					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CAGGACAGCTCCTTGCCCAAA	0.547000													17	161					0	0	1	0	0
G0S2	50486	broad.mit.edu	37	1	209849179	209849179	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:209849179C>T	ENST00000367029.4	+	2	312	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	50					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		GCAGCCCCTTCACGGCCGCCA	0.667000													5	15					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33271721	33271721	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:33271721G>A	ENST00000426633.2	-	7	1516	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	TAPBP_ENST00000456592.2_Intron|TAPBP_ENST00000489157.1_Intron|TAPBP_ENST00000434618.2_Intron|TAPBP_ENST00000475304.1_Intron	NM_172208.2	NP_757345.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						CAGAGAGGTGGAGCACTGTAC	0.517000													9	88					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84532182	84532182	+	RNA	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:84532182G>C	ENST00000527857.1	+	0	2204					NR_026851.1																						CAAAATTTCAGAGCTATCTGT	0.488000													4	47					0	0	1	0	0
TIMM21	29090	broad.mit.edu	37	18	71816318	71816318	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:71816318G>T	ENST00000580087.1	+	1	561	c.275G>T	c.(274-276)gGa>gTa	p.G92V	TIMM21_ENST00000169551.6_Missense_Mutation_p.G92V			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	92					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											CAGAGAGGGGGAACCGCCGTC	0.502000													11	78					1.58986e-06	1.63465e-06	1	1	0
RAD52	5893	broad.mit.edu	37	12	1036313	1036313	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:1036313G>T	ENST00000358495.3	-	6	603	c.465C>A	c.(463-465)ctC>ctA	p.L155L	RAD52_ENST00000539046.1_Silent_p.L78L|RAD52_ENST00000536177.1_Silent_p.L155L|RAD52_ENST00000430095.2_Silent_p.L155L|RAD52_ENST00000545564.1_Silent_p.L155L	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	155					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GCGCTCACCTGAGGGCTCGCT	0.512000								Homologous recombination					23	195					6.32553e-13	6.62819e-13	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38572705	38572705	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:38572705G>A	ENST00000222345.6	+	3	1009	c.500G>A	c.(499-501)cGg>cAg	p.R167Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	167					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTCCCCCTTCGGCACCGCAGC	0.721000													27	122					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96006028	96006028	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:96006028G>A	ENST00000260766.3	+	8	3380	c.2746G>A	c.(2746-2748)Gag>Aag	p.E916K	PLCE1_ENST00000371380.2_Missense_Mutation_p.E916K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E608K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E608K	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	916					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACACAGCTGAGCCTGGAAA	0.507000													18	81					0	0	1	0	0
BBS5	129880	broad.mit.edu	37	2	170344504	170344504	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:170344504G>A	ENST00000295240.3	+	5	642	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	BBS5_ENST00000554017.1_Missense_Mutation_p.R89Q|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R89Q|BBS5_ENST00000392663.2_Missense_Mutation_p.R89Q	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5									p.R89Q(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGAAATTACGAGGCCAAACT	0.294000									Bardet-Biedl syndrome				13	133					0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56916369	56916369	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:56916369C>T	ENST00000438926.2	+	13	1658	c.1629C>T	c.(1627-1629)atC>atT	p.I543I	SLC12A3_ENST00000563236.1_Silent_p.I543I|SLC12A3_ENST00000566786.1_Silent_p.I542I|SLC12A3_ENST00000262502.5_Silent_p.I542I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	543					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ATGCCCTCATCAACTTCAGCT	0.597000													21	153					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21491520	21491520	+	RNA	SNP	A	A	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:21491520A>G	ENST00000607545.1	+	0	179					NR_027026.1																						GTCGTGGACAACCAGGCTGGG	0.552000													4	121					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100413653	100413653	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:100413653G>A	ENST00000375147.3	+	10	1313	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	353					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CCACATAGTTGAGGTATGAAT	0.338000													7	58					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008819	41008819	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:41008819G>C	ENST00000352632.3	+	11	1427	c.1341G>C	c.(1339-1341)gaG>gaC	p.E447D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E447D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E447D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E447D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	447					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGCTGAATGAGAACCAGCGTC	0.597000													19	133					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215963552	215963552	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:215963552G>C	ENST00000366943.2	-	51	10417	c.10031C>G	c.(10030-10032)tCt>tGt	p.S3344C	USH2A_ENST00000307340.3_Missense_Mutation_p.S3344C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3344					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)		ATGTGCTTTAGACTCTCCACT	0.378000										HNSCC(13;0.011)			19	86					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5981936	5981936	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:5981936C>T	ENST00000531445.1	-	2	1601	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	C4orf50_ENST00000324058.5_Missense_Mutation_p.E45K			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	45										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CGGGTGGCCTCGTCCAGAGAC	0.682000													5	33					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26427038	26427038	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:26427038C>G	ENST00000380649.3	-	12	1242	c.1113G>C	c.(1111-1113)ctG>ctC	p.L371L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	371					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CTGCTCCCATCAGCCCTGCAC	0.483000													21	332					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213921665	213921665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:213921665G>A	ENST00000457361.1	-	4	466	c.298C>T	c.(298-300)Caa>Taa	p.Q100*	IKZF2_ENST00000413091.3_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000342002.2_Nonsense_Mutation_p.Q106*|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000451136.2_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000434687.1_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000374319.4_Nonsense_Mutation_p.Q100*|IKZF2_ENST00000421754.2_Nonsense_Mutation_p.Q100*	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CCCTCGCCTTGAAGCTCCTGG	0.517000													17	71					0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22020483	22020483	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:22020483G>A	ENST00000284202.4	+	6	532	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	131										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GAAGAAAACTGAAGAGGAAGA	0.373000													19	93					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43895410	43895410	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:43895410G>C	ENST00000562955.1	+	28	4032	c.4032G>C	c.(4030-4032)caG>caC	p.Q1344H	SZT2_ENST00000372442.1_Missense_Mutation_p.Q502H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1401						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGAGTTTCAGAGCACCCGTG	0.547000													13	90					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28143700	28143700	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:28143700C>G	ENST00000304658.5	-	12	2061	c.1561G>C	c.(1561-1563)Gaa>Caa	p.E521Q	XPO6_ENST00000565698.1_Missense_Mutation_p.E507Q	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	521					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAATAAACTTCTAAATTGTCC	0.299000													6	16					0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41911179	41911179	+	Silent	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:41911179G>T	ENST00000381647.2	+	4	403	c.384G>T	c.(382-384)ctG>ctT	p.L128L	C5orf51_ENST00000505931.2_3'UTR	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	128										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						ATGAGCTACTGGAATGTCTCT	0.378000													8	37					1.06961e-07	1.10754e-07	1	1	0
CTNNBL1	56259	broad.mit.edu	37	20	36407619	36407619	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:36407619G>A	ENST00000405275.2	+	11	1075	c.832G>A	c.(832-834)Gag>Aag	p.E278K	CTNNBL1_ENST00000373473.1_Missense_Mutation_p.E118K|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.E53K|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.E305K			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	305					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGCACGGCTGAGGAGCAGGA	0.473000													11	52					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48252439	48252439	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:48252439G>A	ENST00000400384.2	+	5	1997	c.961G>A	c.(961-963)Gag>Aag	p.E321K	MAPK4_ENST00000592595.1_Intron|MAPK4_ENST00000540640.1_Missense_Mutation_p.E110K	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	321					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CCCTGAGGACGAGCCCACCTC	0.572000													5	136					0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19766861	19766861	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:19766861C>T	ENST00000329705.7	+	9	1257	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	TBX1_ENST00000359500.3_Intron	NM_080646.1	NP_542377.1	O43435	TBX1_HUMAN	T-box 1	376					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				TCCCCTGCCCCGCAGAGTGCC	0.597000													7	82					0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14496058	14496058	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:14496058C>T	ENST00000249923.3	-	14	2020	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	COPB1_ENST00000526191.1_5'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.E574K	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	574					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTTTTCTTCTCCTGAACCAAA	0.388000													13	141					0	0	1	0	0
C2orf80	389073	broad.mit.edu	37	2	209036779	209036779	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:209036779G>A	ENST00000341287.4	-	7	582	c.387C>T	c.(385-387)ctC>ctT	p.L129L	C2orf80_ENST00000453017.1_Intron|C2orf80_ENST00000451346.1_Silent_p.L110L	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	129										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						AGGAGAGGCAGAGAGATGAAA	0.488000													41	224					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52859253	52859253	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:52859253C>T	ENST00000371568.3	-	6	1162	c.944G>A	c.(943-945)cGc>cAc	p.R315H	ORC1_ENST00000371566.1_Missense_Mutation_p.R315H	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	315					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding	p.R315H(1)		breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGGATTATGCGATGTTCAGG	0.468000													4	197					0	0	1	0	0
HBQ1	3049	broad.mit.edu	37	16	231027	231027	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:231027G>A	ENST00000199708.2	+	3	383	c.349G>A	c.(349-351)Gac>Aac	p.D117N		NM_005331.4	NP_005322.1	P09105	HBAT_HUMAN	hemoglobin, theta 1	117						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTACCCCGGAGACTTCAGCCC	0.701000													6	64					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31279123	31279123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:31279123G>A	ENST00000357033.4	-	63	9441	c.9235C>T	c.(9235-9237)Caa>Taa	p.Q3079*	DMD_ENST00000378707.3_Nonsense_Mutation_p.Q619*|DMD_ENST00000359836.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000541735.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378702.4_Nonsense_Mutation_p.Q11*|DMD_ENST00000378680.2_Nonsense_Mutation_p.Q11*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q3075*|DMD_ENST00000343523.2_Nonsense_Mutation_p.Q619*|DMD_ENST00000474231.1_Nonsense_Mutation_p.Q619*|DMD_ENST00000378723.3_Nonsense_Mutation_p.Q11*|DMD_ENST00000361471.4_Nonsense_Mutation_p.Q11*	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3079	Interaction with SYNM (By similarity).|WW.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAAGTTGTTTGAGTCTCGTGG	0.378000													6	32					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12653598	12653598	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:12653598G>C	ENST00000228862.2	-	4	1017	c.386C>G	c.(385-387)tCt>tGt	p.S129C	DUSP16_ENST00000298573.4_Intron|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	129	Rhodanese.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GAAACAACGAGAGAACTCAGC	0.413000													6	47					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57496615	57496615	+	Missense_Mutation	SNP	C	C	G	rs11172101		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:57496615C>G	ENST00000300134.3	-	12	1627	c.1302G>C	c.(1300-1302)gaG>gaC	p.E434D	STAT6_ENST00000556155.1_Missense_Mutation_p.E434D|STAT6_ENST00000454075.3_Missense_Mutation_p.E434D|STAT6_ENST00000537215.2_Missense_Mutation_p.E324D|STAT6_ENST00000543873.2_Missense_Mutation_p.E434D|STAT6_ENST00000538913.2_Missense_Mutation_p.E324D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	434					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCCTCACCATCTCAGAGAAGG	0.562000													5	53					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214543025	214543025	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:214543025G>A	ENST00000366956.5	-	17	3240	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1016	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTTTTGGTTCGTCCACCCTCC	0.428000													38	198					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12958754	12958754	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:12958754C>A	ENST00000251472.4	+	7	696	c.657C>A	c.(655-657)ttC>ttA	p.F219L	MAST1_ENST00000591495.1_Missense_Mutation_p.F215L	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	219					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGCTCAGCTTCATCCACCACC	0.617000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	23					0.184627	0.184627	1	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58008163	58008163	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:58008163G>A	ENST00000286494.4	+	7	1166	c.706G>A	c.(706-708)Gct>Act	p.A236T	AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.A275T|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	236	DH.				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGGCTGGCTCAGCTATT	0.547000													15	92					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15983977	15983977	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:15983977G>A	ENST00000268712.3	-	24	3499	c.3242C>T	c.(3241-3243)cCg>cTg	p.P1081L	NCOR1_ENST00000395851.1_Missense_Mutation_p.P1097L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1081	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.P1081L(1)|p.P1081Q(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCCCACTGACGGCTTGGGTGT	0.403000													9	72					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799764	27799764	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27799764C>G	ENST00000408964.2	+	1	376	c.325C>G	c.(325-327)Cca>Gca	p.P109A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	109										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAGCAAACTCCAAGAACAAA	0.408000													10	79					0	0	1	0	0
PPAP2A	8611	broad.mit.edu	37	5	54721830	54721830	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:54721830C>T	ENST00000307259.8	-	5	1007	c.587G>A	c.(586-588)aGa>aAa	p.R196K	PPAP2A_ENST00000264775.5_Missense_Mutation_p.R197K	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	196					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GCGTAAGAGTCTTGCCCAGTC	0.378000													13	98					0	0	1	0	0
CEP85	64793	broad.mit.edu	37	1	26595006	26595006	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:26595006G>C	ENST00000252992.4	+	8	1505	c.1374G>C	c.(1372-1374)ttG>ttC	p.L458F	CEP85_ENST00000451429.2_Missense_Mutation_p.L407F	NM_022778.2	NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	458						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						TCAATAATTTGAAAAAGAAAT	0.478000													12	50					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9063171	9063171	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:9063171C>T	ENST00000382496.5	-	18	3011	c.2346G>A	c.(2344-2346)acG>acA	p.T782T		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	782					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCCCGTTGACCGTGTGGGCAG	0.562000													3	28					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3814187	3814187	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:3814187G>C	ENST00000315677.3	-	5	1639	c.1044C>G	c.(1042-1044)atC>atG	p.I348M	DLGAP1_ENST00000400145.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.I60M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.I348M|DLGAP1_ENST00000400147.2_Missense_Mutation_p.I46M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.I56M|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000539435.1_Missense_Mutation_p.I46M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.I54M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.I54M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.I348M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.I54M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	348					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCATGGCCTTGATATAACTGC	0.488000													24	115					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262275	167262275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:167262275G>A	ENST00000409855.1	-	25	4990	c.4864C>T	c.(4864-4866)Cga>Tga	p.R1622*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1622					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCTTGTTTTCGTTTCAAAGTA	0.363000													5	192					0	0	1	0	0
SYCP3	50511	broad.mit.edu	37	12	102131053	102131053	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:102131053G>A	ENST00000392927.3	-	3	288	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	SYCP3_ENST00000266743.2_Missense_Mutation_p.R53C|SYCP3_ENST00000392924.1_Missense_Mutation_p.R53C	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	53					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTCTTCCTACGTTTCTCAATG	0.303000													4	161					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107100173	107100173	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:107100173C>T	ENST00000369046.4	+	6	751	c.647C>T	c.(646-648)tCc>tTc	p.S216F	QRSL1_ENST00000369044.1_Missense_Mutation_p.S216F	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	216					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GGCTTAGTTTCCCGTCATGGT	0.448000													8	71					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38698965	38698965	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:38698965C>G	ENST00000396832.1	-	4	497	c.237G>C	c.(235-237)gtG>gtC	p.V79V	CSNK1E_ENST00000400206.2_Silent_p.V79V|CSNK1E_ENST00000405675.3_Silent_p.V79V|CSNK1E_ENST00000413574.2_Silent_p.V79V|CSNK1E_ENST00000403904.1_Silent_p.V79V|CSNK1E_ENST00000359867.3_Silent_p.V79V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	79	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CCATGACCATCACGTTGTAGT	0.617000													8	92					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591748	86591748	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:86591748C>T	ENST00000370571.2	-	3	637	c.271G>A	c.(271-273)Gag>Aag	p.E91K	COL24A1_ENST00000436319.1_Missense_Mutation_p.E91K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	91	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAAGGTGTCTCGATATAAGCA	0.428000													9	71					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16877399	16877399	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:16877399G>A	ENST00000355661.3	-	5	378	c.368C>T	c.(367-369)aCa>aTa	p.T123I	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T123I|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T123I			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	123					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						AGCCGTGGATGTTTCACTGAC	0.537000													28	233					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166626751	166626751	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:166626751C>T	ENST00000392701.3	-	2	1235	c.460G>A	c.(460-462)Gca>Aca	p.A154T		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	154					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTGTCACTTGCGAAAGCATTA	0.408000													4	94					0	0	1	0	0
NLRP6	171389	broad.mit.edu	37	11	285220	285220	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:285220G>C	ENST00000534750.1	+	8	2797	c.2592G>C	c.(2590-2592)aaG>aaC	p.K864N	NLRP6_ENST00000312165.5_Missense_Mutation_p.K865N	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	865						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCTGTGAAGAGAGCAAAGC	0.612000													4	14					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85577207	85577207	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:85577207G>C	ENST00000295802.4	-	4	867	c.755C>G	c.(754-756)tCc>tGc	p.S252C	RETSAT_ENST00000263854.6_Missense_Mutation_p.S252C|RETSAT_ENST00000457495.2_Missense_Mutation_p.S191C	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	252					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GAGCTCAGAGGAGGCCCCCAG	0.617000													12	81					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158185	102158185	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:102158185G>C	ENST00000299314.7	-	13	2772	c.2510C>G	c.(2509-2511)tCt>tGt	p.S837C		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	837					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AACAATCAGAGATGGGGGCTT	0.418000													35	191					0	0	1	0	0
MAPK1	5594	broad.mit.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GCTCTTACCTCGTCACTCGGG	0.478000													12	63					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15673221	15673221	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:15673221C>T	ENST00000281171.4	+	10	2196	c.1866C>T	c.(1864-1866)gaC>gaT	p.D622D	PTPRO_ENST00000348962.2_Silent_p.D622D	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	622						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			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)				GCTGCTGTGACAGCTCTACCA	0.473000													19	102					0	0	1	0	0
MINPP1	9562	broad.mit.edu	37	10	89265160	89265160	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:89265160C>G	ENST00000371996.4	+	1	529	c.488C>G	c.(487-489)tCg>tGg	p.S163W	MINPP1_ENST00000371994.4_Missense_Mutation_p.S163W	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	163					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CGTCTGGCCTCGCTCTTCCCG	0.647000											OREG0020348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	66					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209108191	209108191	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:209108191C>T	ENST00000415913.1	-	6	1039	c.658G>A	c.(658-660)Gat>Aat	p.D220N	IDH1_ENST00000446179.1_Missense_Mutation_p.D220N|IDH1_ENST00000345146.2_Missense_Mutation_p.D220N			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	220					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		AAACGCCCATCATATTTCTTC	0.338000			Mis		gliobastoma								11	82					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73947546	73947546	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:73947546G>A	ENST00000537812.1	-	8	1591	c.943C>T	c.(943-945)Cac>Tac	p.H315Y	ACOX1_ENST00000301608.4_Missense_Mutation_p.H353Y|ACOX1_ENST00000293217.5_Missense_Mutation_p.H353Y	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	353					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TTAATCCGGTGATAGGTCTCC	0.488000													14	111					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13367415	13367415	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:13367415C>G	ENST00000254508.5	-	33	4606	c.4524G>C	c.(4522-4524)tgG>tgC	p.W1508C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1508					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCGAGGAGCTCCAGGTTCCTG	0.627000													21	108					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5701271	5701271	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:5701271G>C	ENST00000305836.5	-	2	439	c.137C>G	c.(136-138)tCc>tGc	p.S46C	TRIM5_ENST00000380027.1_Missense_Mutation_p.S46C|TRIM5_ENST00000396853.4_Missense_Mutation_p.S46C|TRIM5_ENST00000380034.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396847.3_Missense_Mutation_p.S46C|TRIM5_ENST00000396855.3_Missense_Mutation_p.S46C			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	46					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTCTAGCATGGACTTCTTGTG	0.557000													17	141					0	0	1	0	0
MRO	83876	broad.mit.edu	37	18	48327852	48327852	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr18:48327852G>A	ENST00000428869.2	-	7	710	c.452C>T	c.(451-453)tCg>tTg	p.S151L	MRO_ENST00000588444.1_Intron|MRO_ENST00000436348.2_Missense_Mutation_p.S165L|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000256425.2_Missense_Mutation_p.S151L|MRO_ENST00000398439.3_Missense_Mutation_p.S151L			Q9BYG7	MSTRO_HUMAN	maestro	151						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		AACAAAGGCCGAGTATCTCAG	0.463000													13	298					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22024158	22024158	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:22024158C>T	ENST00000377072.3	+	22	3345	c.2997C>T	c.(2995-2997)ctC>ctT	p.L999L	MLLT10_ENST00000446906.2_Silent_p.L983L|MLLT10_ENST00000307729.7_Silent_p.L983L|MLLT10_ENST00000377059.3_Silent_p.L983L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	999					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCAACAGCTCACACCAGTAA	0.363000			T	"""MLL, PICALM, CDK6"""	AL								17	124					0	0	1	0	0
ZNF513	130557	broad.mit.edu	37	2	27601662	27601662	+	Missense_Mutation	SNP	G	G	T	rs149911850		TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:27601662G>T	ENST00000323703.6	-	3	669	c.471C>A	c.(469-471)ttC>ttA	p.F157L	ZNF513_ENST00000407879.1_Missense_Mutation_p.F95L|ZNF513_ENST00000491924.1_Intron	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	157					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTGGGACACGAAGGTGCAGA	0.697000													8	36					1.12685e-05	1.15588e-05	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230672975	230672975	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:230672975G>A	ENST00000283943.5	-	15	2366	c.2188C>T	c.(2188-2190)Ctg>Ttg	p.L730L	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Silent_p.L433L|TRIP12_ENST00000389044.4_Silent_p.L778L	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	730					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TACCAAATCAGAGATGTCAGT	0.478000													8	73					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43172163	43172163	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:43172163C>T	ENST00000252050.4	+	21	4309	c.4225C>T	c.(4225-4227)Cgg>Tgg	p.R1409W	CUL9_ENST00000372647.2_Missense_Mutation_p.R1409W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1299W	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1409					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGAGACCTCTCGGAACCCCTT	0.572000													34	170					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88535226	88535226	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr4:88535226C>G	ENST00000399271.1	+	5	1532	c.1412C>G	c.(1411-1413)tCt>tGt	p.S471C	DSPP_ENST00000282478.7_Missense_Mutation_p.S471C|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	471	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGTGATGAATCTAATGGCAAT	0.388000													21	94					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37059261	37059261	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059261C>T	ENST00000282516.8	+	44	8178	c.7679C>T	c.(7678-7680)tCt>tTt	p.S2560F	NIPBL_ENST00000448238.2_Missense_Mutation_p.S2560F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2560					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTGGATTTTCTGATAGGTAA	0.363000													6	54					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156642171	156642171	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156642171C>G	ENST00000368223.3	-	4	1941	c.1809G>C	c.(1807-1809)gtG>gtC	p.V603V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	603	Tail.			ELLKDVEVVRPLEKEAVG -> RAIKGCGGSETSRKRGCR (in Ref. 1; CAA46780).	brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTAGAGGTCTCACTACCTCCA	0.398000													7	69					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11010232	11010232	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:11010232C>T	ENST00000324288.8	+	15	3111	c.2978C>T	c.(2977-2979)gCg>gTg	p.A993V	CIITA_ENST00000381835.5_Missense_Mutation_p.A409V	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	993					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGCCTGGATGCGCTGAGTGAG	0.627000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								4	26					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118642244	118642244	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:118642244G>A	ENST00000336338.5	-	6	879	c.814C>T	c.(814-816)Ctt>Ttt	p.L272F		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	272						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GACTGAAGAAGAACTTCCTGC	0.403000													25	199					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470317	161470317	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:161470317C>T	ENST00000392142.4	+	3	1161	c.1013C>T	c.(1012-1014)tCa>tTa	p.S338L	MAP3K4_ENST00000366920.2_Missense_Mutation_p.S338L|MAP3K4_ENST00000348824.7_Missense_Mutation_p.S338L|MAP3K4_ENST00000366919.2_Missense_Mutation_p.S338L	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	338					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTAGGTTACTCAACACATCAT	0.443000													17	76					0	0	1	0	0
MTBP	27085	broad.mit.edu	37	8	121528344	121528344	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:121528344G>C	ENST00000305949.1	+	18	2204	c.2159G>C	c.(2158-2160)gGa>gCa	p.G720A		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	720	Interaction with MDM2 (By similarity).				cell cycle arrest			p.G720E(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GTCCCTGACGGAGAAGTTTTA	0.418000													24	104					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37064094	37064094	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37064094G>A	ENST00000448238.2	+	46	8531	c.8063G>A	c.(8062-8064)aGg>aAg	p.R2688K	NIPBL_ENST00000282516.8_Intron			Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	844					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGCGGAGGAGGAGTCAACGT	0.418000													7	37					0	0	1	0	0
UBXN7	26043	broad.mit.edu	37	3	196120455	196120455	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:196120455C>G	ENST00000296328.4	-	4	399	c.325G>C	c.(325-327)Gat>Cat	p.D109H	UBXN7_ENST00000535858.1_5'UTR|UBXN7_ENST00000428095.1_Intron	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	109							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CGGAAACCATCAAAAATTGAA	0.328000													9	97					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82943951	82943951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:82943951G>A	ENST00000306270.7	-	3	892	c.343C>T	c.(343-345)Caa>Taa	p.Q115*	IBTK_ENST00000510291.1_Nonsense_Mutation_p.Q115*|IBTK_ENST00000503631.1_Nonsense_Mutation_p.Q115*	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	115					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTTTATCTTGAATATACAGA	0.289000													11	73					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641510	156641510	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156641510C>T	ENST00000368223.3	-	4	2602	c.2470G>A	c.(2470-2472)Gag>Aag	p.E824K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	824	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTAGGATCTCTGTTTCTAAA	0.413000													7	58					0	0	1	0	0
AP2B1	163	broad.mit.edu	37	17	34050652	34050652	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:34050652G>A	ENST00000262325.7	+	21	3301	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Silent_p.L930L|AP2B1_ENST00000589344.1_Silent_p.L930L|AP2B1_ENST00000538556.1_Silent_p.L859L|AP2B1_ENST00000592545.1_Silent_p.L892L|AP2B1_ENST00000537622.2_Silent_p.L930L	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	916	Interaction with ARRB1.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGCTGTCACTGAAGTGTAGAG	0.423000													4	61					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154942846	154942846	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:154942846C>T	ENST00000448116.2	-	1	377	c.157G>A	c.(157-159)Gat>Aat	p.D53N	SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.D53N|SHC1_ENST00000368450.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	53					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTGGGACTATCGTCCCCAGGC	0.672000													9	64					0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111386771	111386771	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:111386771G>C	ENST00000529167.1	+	3	275	c.275G>C	c.(274-276)aGa>aCa	p.R92T	C11orf88_ENST00000332814.6_Missense_Mutation_p.R92T|RP11-794P6.6_ENST00000530283.1_RNA|C11orf88_ENST00000375618.4_Missense_Mutation_p.R92T			Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	92										endometrium(1)|large_intestine(3)|lung(2)	6						CTAGAAAATAGAGACATCTTT	0.318000													11	80					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31210382	31210382	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr15:31210382G>A	ENST00000362065.4	+	6	2118	c.1827G>A	c.(1825-1827)acG>acA	p.T609T		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	609					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CAGCAGCCACGCACATGCTGA	0.468000								Direct reversal of damage					4	120					0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11940376	11940376	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:11940376G>C	ENST00000571133.1	-	5	689	c.617C>G	c.(616-618)tCt>tGt	p.S206C	RSL1D1_ENST00000542106.1_5'UTR	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	206					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.S206F(1)		NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCACTTTTAGAAATGTTTAA	0.323000													13	70					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108196176	108196176	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:108196176G>C	ENST00000278616.4	+	46	7097	c.6712G>C	c.(6712-6714)Gaa>Caa	p.E2238Q	ATM_ENST00000452508.2_Missense_Mutation_p.E2238Q|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2238	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATGGAAAAGGAAATGGACAA	0.423000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			12	88					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211473236	211473236	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:211473236C>T	ENST00000233072.5	+	19	2540	c.2344C>T	c.(2344-2346)Cat>Tat	p.H782Y	CPS1_ENST00000451903.2_Missense_Mutation_p.H331Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H788Y	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	782					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGACCGTTTTCATGGAACATC	0.423000													19	97					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684657	44684657	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:44684657G>A	ENST00000396058.1	+	5	2202	c.2035G>A	c.(2035-2037)Gaa>Aaa	p.E679K	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.E679K			O14709	ZN197_HUMAN	zinc finger protein 197	679					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GAATCTCTATGAATGTAAAGA	0.418000													5	55					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156821767	156821767	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:156821767G>A	ENST00000368195.3	-	3	1250	c.854C>T	c.(853-855)tCt>tTt	p.S285F	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	285					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCGGGCACAGAGTGCAGGCT	0.642000													7	36					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21757447	21757447	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:21757447G>C	ENST00000328843.6	+	44	7090	c.7059G>C	c.(7057-7059)ttG>ttC	p.L2353F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2346F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2353	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGCCAATTTGACTATTCTTT	0.398000									Kartagener syndrome				11	69					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634467	1634467	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:1634467G>A	ENST00000409644.1	+	4	4072	c.4072G>A	c.(4072-4074)Gac>Aac	p.D1358N	WDR81_ENST00000446363.1_5'UTR|WDR81_ENST00000419248.1_Missense_Mutation_p.D131N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000437219.2_Missense_Mutation_p.D155N|WDR81_ENST00000309182.5_Missense_Mutation_p.D307N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	131										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTACCTCTCAGACACCACACT	0.652000													10	49					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128642066	128642066	+	Missense_Mutation	SNP	A	A	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:128642066A>C	ENST00000371122.4	-	7	947	c.818T>G	c.(817-819)tTt>tGt	p.F273C	SMARCA1_ENST00000371123.1_Missense_Mutation_p.F273C|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.F273C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	273	Helicase ATP-binding.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATCACGAATAAAAGCAGCCTA	0.274000													6	31					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7636531	7636531	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:7636531G>A	ENST00000572933.1	+	5	1986	c.526G>A	c.(526-528)Ggt>Agt	p.G176S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G176S|DNAH2_ENST00000570791.1_Missense_Mutation_p.G176S|DNAH2_ENST00000082259.3_Missense_Mutation_p.G176S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	176	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGGCTGCTCGGTGGAGTCTT	0.562000													4	161					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160136314	160136314	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr2:160136314G>C	ENST00000409990.3	-	3	797	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	WDSUB1_ENST00000358147.4_Missense_Mutation_p.L181V|WDSUB1_ENST00000409124.1_Missense_Mutation_p.L181V|WDSUB1_ENST00000392796.3_Missense_Mutation_p.L181V|WDSUB1_ENST00000359774.4_Missense_Mutation_p.L181V	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	181						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GTAATTCCAAGATCATGTGCT	0.378000													10	62					0	0	1	0	0
GPHA2	170589	broad.mit.edu	37	11	64702545	64702545	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:64702545C>T	ENST00000279168.2	-	3	260	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	GPHA2_ENST00000532246.1_Missense_Mutation_p.R69Q|GPHA2_ENST00000533257.1_Missense_Mutation_p.R69Q	NM_130769.3	NP_570125.1	Q96T91	GPHA2_HUMAN	glycoprotein hormone alpha 2	69						extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|prostate(1)	3						CACAGAGTACCGAGAAGGGAA	0.622000													27	113					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733543	35733543	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:35733543G>A	ENST00000540320.1	+	22	3769	c.3235G>A	c.(3235-3237)Gag>Aag	p.E1079K	NBEA_ENST00000310336.4_Missense_Mutation_p.E1079K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1079K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1079K			Q8NFP9	NBEA_HUMAN	neurobeachin	1079						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTATCACCGGAGACTTTAGT	0.398000													6	45					0	0	1	0	0
TPRG1L	127262	broad.mit.edu	37	1	3545080	3545080	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:3545080C>T	ENST00000378344.2	+	5	803	c.732C>T	c.(730-732)ctC>ctT	p.L244L	TPRG1L_ENST00000344579.5_Silent_p.L185L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	244						cell junction|synaptic vesicle		p.L244L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GCCCCCTGCTCATCGAGACCT	0.532000													5	45					0	0	1	0	0
CHRNB1	1140	broad.mit.edu	37	17	7360041	7360041	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:7360041G>A	ENST00000306071.2	+	11	1572	c.1505G>A	c.(1504-1506)tGa>tAa	p.*502*	CHRNB1_ENST00000536404.2_Silent_p.*430*|CHRNB1_ENST00000575379.1_Silent_p.*38*|CHRNB1_ENST00000576360.1_Silent_p.*381*	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	0					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				CCCTTTCCTTGAAGACTGGAG	0.552000													8	65					0	0	1	0	0
TM2D2	83877	broad.mit.edu	37	8	38853766	38853766	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:38853766C>T	ENST00000456397.2	-	1	286	c.193G>A	c.(193-195)Gac>Aac	p.D65N	TM2D2_ENST00000397070.2_5'UTR|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000456845.2_Intron	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	65						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GAGTGGGGGTCGCCATATTCC	0.642000													6	75					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37059151	37059151	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:37059151G>T	ENST00000282516.8	+	44	8068	c.7569G>T	c.(7567-7569)atG>atT	p.M2523I	NIPBL_ENST00000448238.2_Missense_Mutation_p.M2523I	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2523					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGTGATGAAATGTTTGC	0.368000													11	69					2.80697e-09	2.92032e-09	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33638303	33638303	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:33638303C>G	ENST00000374316.5	+	20	3451	c.2391C>G	c.(2389-2391)gtC>gtG	p.V797V	ITPR3_ENST00000605930.1_Silent_p.V797V			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	797					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCACGCCGGTCAAGTTTGCCC	0.652000													17	129					0	0	1	0	0
MIR331	442903	broad.mit.edu	37	12	95702245	95702245	+	RNA	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:95702245G>A	ENST00000362302.1	+	0	50					NR_029895.1																						AGGGATCCCAGATCAAACCAG	0.502000													3	11					0	0	1	0	0
GUSB	2990	broad.mit.edu	37	7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000421103.1_Missense_Mutation_p.A322T|GUSB_ENST00000345660.6_Missense_Mutation_p.A417T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572000													12	65					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180048648	180048648	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:180048648C>G	ENST00000261937.6	-	13	1992	c.1914G>C	c.(1912-1914)ctG>ctC	p.L638L	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.L638L|FLT4_ENST00000393347.3_Silent_p.L638L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	638	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGGATACTCAGGCTGAGCG	0.662000													7	43					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13341014	13341014	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:13341014G>A	ENST00000360228.5	-	36	5409	c.5410C>T	c.(5410-5412)Ctc>Ttc	p.L1804F	CACNA1A_ENST00000574822.1_5'UTR|CACNA1A_ENST00000573710.2_Missense_Mutation_p.L1805F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1805					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCGACAAAGAGATTCAGCATC	0.572000													4	49					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5083377	5083377	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr16:5083377C>T	ENST00000312251.3	-	2	458	c.439G>A	c.(439-441)Gag>Aag	p.E147K	NAGPA_ENST00000564922.1_5'UTR|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Missense_Mutation_p.E147K	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	147					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	CCCAGGCACTCGCCCGAGTTC	0.736000													8	33					0	0	1	0	0
PRPS1	5631	broad.mit.edu	37	X	106882528	106882528	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:106882528G>A	ENST00000372435.4	+	2	248	c.126G>A	c.(124-126)gtG>gtA	p.V42V	PRPS1_ENST00000543248.1_Silent_p.V42V|PRPS1_ENST00000372419.3_Silent_p.V42V|PRPS1_ENST00000372428.4_5'UTR	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	42					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						ATTGTAGTGTGGAAATTGGTG	0.383000													43	200					0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1456880	1456880	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr20:1456880C>T	ENST00000359801.3	-	5	997	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SIRPB2_ENST00000444444.1_Missense_Mutation_p.E223K	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	321						integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGACATCTTCTTGCCCAGGG	0.597000													20	117					0	0	1	0	0
ARIH2OS	646450	broad.mit.edu	37	3	48956416	48956416	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr3:48956416G>A	ENST00000408959.2	-	1	402	c.167C>T	c.(166-168)tCg>tTg	p.S56L	ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000449376.1_5'UTR|ARIH2_ENST00000490095.1_3'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand																		CAGCGGCCGCGAGGCCGCAGC	0.761000													3	9					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72191394	72191394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr14:72191394C>T	ENST00000555818.1	+	17	4867	c.4519C>T	c.(4519-4521)Cag>Tag	p.Q1507*	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.Q1486*|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.Q961*|SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.Q1486*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1507					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGGCGTCATCAGAGCGATGG	0.498000													12	47					0	0	1	0	0
IFT81	28981	broad.mit.edu	37	12	110630482	110630482	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:110630482G>C	ENST00000242591.5	+	14	2034	c.1528G>C	c.(1528-1530)Gag>Cag	p.E510Q	IFT81_ENST00000552912.1_Missense_Mutation_p.E510Q	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	510					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AGTTATAAAAGAGCTACGACA	0.279000													9	66					0	0	1	0	0
PCGF2	7703	broad.mit.edu	37	17	36896596	36896596	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:36896596G>A	ENST00000580830.1	-	4	761	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCGF2_ENST00000581345.1_Silent_p.L20L|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000360797.2_Silent_p.L20L|PCGF2_ENST00000585100.1_Silent_p.L20L|PCGF2_ENST00000579882.1_Silent_p.L20L			P35227	PCGF2_HUMAN	polycomb group ring finger 2	20					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					ACCCCCCGCAGAGGGCACACA	0.637000													12	132					0	0	1	0	0
C5orf56	441108	broad.mit.edu	37	5	131796262	131796262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:131796262C>T	ENST00000337752.2	+	4	228	c.97C>T	c.(97-99)Caa>Taa	p.Q33*	C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	33										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						agggaatcttcaaactcttct	0.552000													40	244					0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65691775	65691775	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:65691775G>A	ENST00000395334.2	+	6	945	c.587G>A	c.(586-588)gGa>gAa	p.G196E	AK4_ENST00000546702.1_Missense_Mutation_p.G144E|AK4_ENST00000545314.1_Missense_Mutation_p.G196E|AK4_ENST00000327299.7_Missense_Mutation_p.G196E	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	196						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	p.G196K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						CAATTTTCCGGAACGGAGACG	0.438000													6	43					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968853	106968853	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:106968853C>G	ENST00000369066.3	+	2	3033	c.2546C>G	c.(2545-2547)tCt>tGt	p.S849C		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	849							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AAAATCTTTTCTCCTTCTGTG	0.438000													10	77					0	0	1	0	0
RAP2C	57826	broad.mit.edu	37	X	131351188	131351188	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:131351188C>T	ENST00000342983.2	-	2	855	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	RAP2C_ENST00000460462.1_Intron|RP5-842K24.2_ENST00000421483.1_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.E37K	NM_001271186.1|NM_001271187.1|NM_021183.3	NP_001258115.1|NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	37					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TAGAAATCTTCAATGGTGGGG	0.493000													59	261					0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7293930	7293930	+	Silent	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:7293930C>T	ENST00000537408.1	+	8	1990	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	CLSTN3_ENST00000266546.6_Silent_p.L472L			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	472					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACCCTGCCCTCATCCATGACA	0.567000											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	289					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024040	14024040	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:14024040C>G	ENST00000318003.7	+	5	679	c.438C>G	c.(436-438)ctC>ctG	p.L146L	CC2D1A_ENST00000589606.1_Silent_p.L146L	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	146					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTGGCGCTCTATCAGACAG	0.627000													5	45					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321381	141321381	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr8:141321381G>A	ENST00000389328.4	-	10	1896	c.1882C>T	c.(1882-1884)Cca>Tca	p.P628S	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P521S|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P530S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	530					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCACCGGTGGCAGGGTGAGG	0.592000													5	50					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4944242	4944242	+	RNA	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:4944242C>T	ENST00000592666.1	+	0	1748							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCGGCCACATCGTCCTCACAG	0.647000													4	63					0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55155385	55155385	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:55155385G>A	ENST00000396834.1	+	4	551	c.55G>A	c.(55-57)Gca>Aca	p.A19T	IL31RA_ENST00000359040.5_Missense_Mutation_p.A38T|IL31RA_ENST00000297015.3_5'UTR|IL31RA_ENST00000447346.2_Missense_Mutation_p.A38T|IL31RA_ENST00000396836.2_Missense_Mutation_p.A38T|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Missense_Mutation_p.A19T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	6					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGACCTGGGCACTGTGGAT	0.468000													18	104					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62708577	62708577	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:62708577G>C	ENST00000280377.5	+	4	413	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.E119Q|USP15_ENST00000353364.3_Missense_Mutation_p.E119Q|USP15_ENST00000393654.3_Missense_Mutation_p.E119Q	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	119					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTAGGTGGTTGAACAGGGTAT	0.303000													25	270					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36162701	36162701	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:36162701G>T	ENST00000378660.1	+	11	1472	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	CHDC2_ENST00000313548.4_Missense_Mutation_p.K428N					calponin homology domain containing 2																		tgtttccaaaggagatggatg	0.468000													11	77					2.80697e-09	2.92032e-09	1	1	0
FRMD3	257019	broad.mit.edu	37	9	85863132	85863132	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr9:85863132C>T	ENST00000304195.3	-	14	1701	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	FRMD3_ENST00000376438.1_Missense_Mutation_p.E499K|FRMD3_ENST00000376434.1_Missense_Mutation_p.E305K|FRMD3_ENST00000328788.1_Missense_Mutation_p.E156K|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	499						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTCAGCTCCTCTTCTTCAGCA	0.483000													23	147					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47417353	47417353	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr21:47417353G>A	ENST00000361866.3	+	21	1531	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	473	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCCCTATCGGACCTAAAGG	0.652000													4	83					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6665011	6665011	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr12:6665011G>A	ENST00000336604.4	-	1	226	c.185C>T	c.(184-186)gCc>gTc	p.A62V	IFFO1_ENST00000356896.4_Missense_Mutation_p.A62V|IFFO1_ENST00000396840.2_Missense_Mutation_p.A62V	NM_080730.4	NP_542768.2	Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	62						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCCATGGCGGCAggcggggc	0.721000													4	91					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12904323	12904323	+	Silent	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:12904323C>G	ENST00000380659.3	+	3	835	c.696C>G	c.(694-696)ctC>ctG	p.L232L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	232					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AACTATATCTCTACAACAACA	0.358000													13	75					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710615	140710615	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr5:140710615G>A	ENST00000517417.1	+	1	364	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E122K	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGAAGTAGAAATAATTGA	0.418000													22	173					0	0	1	0	0
FAM134C	162427	broad.mit.edu	37	17	40733930	40733930	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:40733930G>A	ENST00000309428.5	-	9	1361	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	FAM134C_ENST00000585894.1_Silent_p.P337P|FAM134C_ENST00000543197.1_Silent_p.P239P	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	434						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		GGTCTGAACTGGGGGACCGGA	0.602000													9	63					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23557444	23557444	+	Silent	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr19:23557444G>A	ENST00000300619.7	-	2	358	c.153C>T	c.(151-153)ttC>ttT	p.F51F	ZNF91_ENST00000599743.1_Silent_p.F51F|ZNF91_ENST00000397082.2_Silent_p.F51F	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	51	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCTTACCCAGGAAGGCCAGGT	0.353000													17	137					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6524045	6524045	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr11:6524045C>T	ENST00000254579.6	+	4	1373	c.809C>T	c.(808-810)tCa>tTa	p.S270L	DNHD1_ENST00000354685.3_Missense_Mutation_p.S270L|DNHD1_ENST00000527990.2_Missense_Mutation_p.S270L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	270					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCGGCTTTTCACCTGAGACT	0.488000													10	74					0	0	1	0	0
SEC31B	25956	broad.mit.edu	37	10	102249149	102249149	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr10:102249149C>T	ENST00000370345.3	-	23	3128	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1011	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ATAAATGTCTCTGGCAGCTAA	0.517000													6	29					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11468645	11468645	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr7:11468645G>A	ENST00000423059.3	-	14	3423	c.3172C>T	c.(3172-3174)Cgt>Tgt	p.R1058C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1058	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CATTTAGAACGAACCTTCACA	0.512000										HNSCC(18;0.044)			50	292					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77635394	77635394	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr13:77635394C>G	ENST00000407578.2	-	76	13212	c.12946G>C	c.(12946-12948)Gaa>Caa	p.E4316Q	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E4278Q|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E4278Q	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCACAACCTTCATGAAGGTCA	0.373000													9	41					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42248167	42248167	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:42248167G>A	ENST00000293414.1	+	1	94	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	4					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CATGGCAAGAGAGACCTTCCC	0.682000													15	78					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41027443	41027443	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chrX:41027443G>T	ENST00000324545.7	+	18	3241	c.2608G>T	c.(2608-2610)Gag>Tag	p.E870*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.E870*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	870					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGATTATCATGAGGAAAGAAC	0.333000													5	72					0.014758	0.0148257	1	1	0
AQP10	89872	broad.mit.edu	37	1	154293656	154293656	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:154293656G>A	ENST00000484864.1	+	1	61	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.E9K			Q96PS8	AQP10_HUMAN	aquaporin 10	9					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGCCCCGGCTGAAATCATGGG	0.577000													19	77					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945236	16945239	+	RNA	DEL	TTAT	TTAT	-			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:16945236_16945239delTTAT	ENST00000412962.1	-	0	2280_2283																											AGGCATTACCTTATTTAAAGTTCA	0.377													2	4	---	---	---	---					
MST1L	11223	broad.mit.edu	37	1	17085255	17085255	+	RNA	DEL	A	A	-	rs2281029	by1000genomes	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr1:17085255delA	ENST00000455405.2	-	0	70																											TTTGGTGGTGAGGGCTGAGGT	0.592													7	99	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG	rs144810212	by1000genomes	TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1																						TTGGGGAAAGACTTTATCCAGG	0.436													2	4	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-MT-A67F-01A-11D-A30E-08	TCGA-MT-A67F-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	192620fa-c6da-49f2-8753-6a0a1f41521c	e89d8f33-a7bb-4bcd-9505-7debd21d6aef	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													2	4	---	---	---	---					
