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
LRRC49	54839	broad.mit.edu	37	15	71302329	71302329	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:71302329G>C	ENST00000260382.5	+	13	1851	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q	LRRC49_ENST00000544974.2_Missense_Mutation_p.E521Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E237Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E536Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.E487Q|LRRC49_ENST00000560158.2_Missense_Mutation_p.E219Q|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	531						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATGGAACAGAGGTAAGCTA	0.299000													19	39					0	0	0.00121646	0	0
HFM1	164045	broad.mit.edu	37	1	91778984	91778984	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:91778984T>C	ENST00000370425.3	-	30	3411	c.3313A>G	c.(3313-3315)Act>Gct	p.T1105A	HFM1_ENST00000294696.5_Missense_Mutation_p.T337A|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.T784A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1105							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTGCATAGTGATTTGATTT	0.323000													37	51					0	0	0.00111076	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38682830	38682830	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:38682830G>A	ENST00000222345.6	+	17	4985	c.4476G>A	c.(4474-4476)ttG>ttA	p.L1492L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1492					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)			AACCGAGGTTGAGGGCATCCC	0.552000													21	44					0	0	0.000295444	0	0
EPHA7	2045	broad.mit.edu	37	6	93955099	93955099	+	Silent	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:93955099T>C	ENST00000369303.4	-	16	2983	c.2799A>G	c.(2797-2799)caA>caG	p.Q933Q		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTTAATAGCTTGTAGCCATT	0.378000													29	78					0	0	0.001512	0	0
OBSCN	84033	broad.mit.edu	37	1	228433250	228433250	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:228433250G>A	ENST00000570156.2	+	13	3968	c.3894G>A	c.(3892-3894)ctG>ctA	p.L1298L	OBSCN_ENST00000284548.11_Silent_p.L1206L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1206L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	277	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAAGAAGCTGAGCTCCAGCT	0.602000													36	77					0	0	0.000953801	0	0
PARD3	56288	broad.mit.edu	37	10	34648183	34648183	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:34648183C>G	ENST00000374789.3	-	14	2284	c.1959G>C	c.(1957-1959)aaG>aaC	p.K653N	PARD3_ENST00000374768.1_Missense_Mutation_p.K91N|PARD3_ENST00000545693.1_Missense_Mutation_p.K640N|PARD3_ENST00000374788.3_Missense_Mutation_p.K653N|PARD3_ENST00000545260.1_Missense_Mutation_p.K596N|PARD3_ENST00000350537.4_Missense_Mutation_p.K640N|PARD3_ENST00000340077.5_Missense_Mutation_p.K653N|PARD3_ENST00000374790.3_Missense_Mutation_p.K596N|PARD3_ENST00000374776.1_Missense_Mutation_p.K640N|PARD3_ENST00000374794.3_Missense_Mutation_p.K596N|PARD3_ENST00000544292.1_Missense_Mutation_p.K370N|PARD3_ENST00000374773.1_Missense_Mutation_p.K653N|PARD3_ENST00000346874.4_Missense_Mutation_p.K653N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	653	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTTGGTTTGTCTTGCCCAACA	0.413000													43	85					0	0	0.000781405	0	0
MYLK3	91807	broad.mit.edu	37	16	46766260	46766260	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:46766260C>A	ENST00000394809.4	-	4	1437	c.1322G>T	c.(1321-1323)gGg>gTg	p.G441V	MYLK3_ENST00000536476.1_Missense_Mutation_p.G100V	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	441					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCCCAGGGCCCCAACCTCGTG	0.662000													38	102					1.67305e-13	1.19021e-12	0.00128727	1	0
CDKN2C	1031	broad.mit.edu	37	1	51439913	51439913	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:51439913G>T	ENST00000262662.1	+	4	2512	c.478G>T	c.(478-480)Ggg>Tgg	p.G160W	CDKN2C_ENST00000396148.1_Missense_Mutation_p.G160W|CDKN2C_ENST00000371761.3_Missense_Mutation_p.G160W			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	160					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GCAGGCAAACGGGGCTGGGGG	0.532000			D		"""glioma, MM"""								5	81					0.00116845	0.00752071	0.00116845	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43771260	43771260	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:43771260G>C	ENST00000389420.3	-	32	4902	c.4903C>G	c.(4903-4905)Caa>Gaa	p.Q1635E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1635	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCATTCTTGATAAACTATA	0.428000													12	23					0	0	0.000978159	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762637	24762637	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:24762637G>A	ENST00000376451.2	+	2	741	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	KIAA1217_ENST00000396446.1_Missense_Mutation_p.E161K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E161K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E443K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E443K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E363K|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E443K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E364K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E161K			Q5T5P2	SKT_HUMAN	KIAA1217	443					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGCAAGCGGAAATGCATAT	0.517000													28	40					0	0	0.00106085	0	0
EFCAB13	124989	broad.mit.edu	37	17	45447812	45447812	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:45447812T>C	ENST00000331493.2	+	11	1226	c.815T>C	c.(814-816)aTg>aCg	p.M272T	EFCAB13_ENST00000517484.1_Missense_Mutation_p.M176T	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		GGTAACCACATGGTGGATATT	0.318000													23	54					0	0	0.000375601	0	0
SNAI3	333929	broad.mit.edu	37	16	88745035	88745035	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88745035C>T	ENST00000332281.5	-	3	786	c.700G>A	c.(700-702)Gag>Aag	p.E234K	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	234					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TAGGGCTTCTCCCCTGTGGGA	0.612000													15	23					0	0	0.000219431	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821083	26821083	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:26821083C>T	ENST00000444914.3	+	8	1713	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SLC13A2_ENST00000314669.5_Silent_p.F382F|SLC13A2_ENST00000537681.1_Silent_p.F311F|SLC13A2_ENST00000545060.1_Silent_p.F339F	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	382						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TAATTATGTTCATCATACCCT	0.607000													17	91					0	0	0.00152264	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43886428	43886428	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:43886428C>A	ENST00000389420.3	-	6	955	c.956G>T	c.(955-957)gGa>gTa	p.G319V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G319V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	319	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGACTGGTCCTTCCTATGC	0.363000													9	42					4.68919e-08	3.16911e-07	0.000673444	1	0
MUC16	94025	broad.mit.edu	37	19	9017487	9017487	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:9017487C>G	ENST00000397910.4	-	26	38040	c.37837G>C	c.(37837-37839)Gat>Cat	p.D12613H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12615	SEA 4.				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						CAGATGGCATCCACTCCAGTG	0.547000													8	75					0	0	0.00136819	0	0
COL6A5	256076	broad.mit.edu	37	3	130159267	130159267	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:130159267G>C	ENST00000265379.6	+	35	6579	c.6085G>C	c.(6085-6087)Gag>Cag	p.E2029Q	COL6A5_ENST00000432398.2_Missense_Mutation_p.E2029Q			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2029	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGTAAAAACAGAGTTTGATTT	0.418000													28	43					0	0	0.000720815	0	0
TLL1	7092	broad.mit.edu	37	4	166795194	166795194	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:166795194G>C	ENST00000061240.2	+	1	785	c.138G>C	c.(136-138)gaG>gaC	p.E46D	TLL1_ENST00000513213.1_Missense_Mutation_p.E46D|TLL1_ENST00000507499.1_Missense_Mutation_p.E46D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	46					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATAAAACAGAGACTATAGATT	0.577000													94	177					0	0	0.000781405	0	0
C2orf53	339779	broad.mit.edu	37	2	27361074	27361074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:27361074G>A	ENST00000335524.3	-	3	649	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	42	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGCCCTGATGGGGAGAG	0.627000													19	30					0	0	0.00074312	0	0
DST	667	broad.mit.edu	37	6	56469095	56469095	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:56469095A>C	ENST00000370754.5	-	39	10231	c.10232T>G	c.(10231-10233)cTt>cGt	p.L3411R	DST_ENST00000370769.4_Missense_Mutation_p.L3233R|DST_ENST00000361203.3_Missense_Mutation_p.L3233R|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.L2907R|DST_ENST00000312431.6_Missense_Mutation_p.L3233R|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3233					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)			ATTAAGGAGAAGCTCAGACTT	0.358000													7	30					0	0	8.12818e-05	0	0
GYS2	2998	broad.mit.edu	37	12	21757466	21757466	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:21757466C>G	ENST00000261195.2	-	1	315	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	21					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGAAGTTCTTCGACTTCCCAC	0.493000													29	54					0	0	0.00127121	0	0
MAP7D1	55700	broad.mit.edu	37	1	36636771	36636771	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:36636771G>A	ENST00000316156.4	+	2	699	c.246G>A	c.(244-246)ccG>ccA	p.P82P	MAP7D1_ENST00000373151.2_Silent_p.P82P|MAP7D1_ENST00000373150.4_Silent_p.P82P			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	82	Pro-rich.					cytoplasm|spindle		p.P82P(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CAGCCCCCCCGCAGGAAGAGT	0.647000													33	55					0	0	0.000339439	0	0
ZNF343	79175	broad.mit.edu	37	20	2464291	2464291	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:2464291C>A	ENST00000278772.4	-	6	1803	c.1316G>T	c.(1315-1317)tGc>tTc	p.C439F	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ACACTCCCTGCAAACATAAGG	0.522000													16	41					6.72482e-11	4.66139e-10	0.000308642	1	0
CCDC63	160762	broad.mit.edu	37	12	111319049	111319049	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:111319049G>A	ENST00000308208.5	+	7	1044	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	CCDC63_ENST00000545036.1_Missense_Mutation_p.V228I|CCDC63_ENST00000552694.1_Missense_Mutation_p.V189I|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	268										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTTCCTGCTCGTCAAGCTGAA	0.532000													12	28					0	0	0.000978159	0	0
KIF26A	26153	broad.mit.edu	37	14	104641739	104641739	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:104641739G>A	ENST00000315264.7	+	11	2575	c.2197G>A	c.(2197-2199)Gcc>Acc	p.A733T	KIF26A_ENST00000423312.2_Missense_Mutation_p.A872T			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	872					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCAGCCCCGCCCGAGGGGG	0.711000													10	16					0	0	0.000978159	0	0
SRCIN1	80725	broad.mit.edu	37	17	36705305	36705305	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:36705305G>A	ENST00000264659.7	-	16	3328	c.3104C>T	c.(3103-3105)tCg>tTg	p.S1035L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S1069L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	907					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GATGAAGGCCGAGTCCTTCTT	0.632000													35	62					0	0	0.00170553	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50414954	50414954	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:50414954C>T	ENST00000435965.1	-	17	1743	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V524M|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V455M|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V524M|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.V524M|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V524M|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V524M|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V524M			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	524	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	ATGCCCATCACGCCCAGGATC	0.602000													11	24					0	0	0.000673444	0	0
HAP1	9001	broad.mit.edu	37	17	39883355	39883355	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:39883355G>A	ENST00000393939.2	-	8	1251	c.1242C>T	c.(1240-1242)ctC>ctT	p.L414L	HAP1_ENST00000341193.5_Silent_p.L422L|HAP1_ENST00000347901.4_Silent_p.L439L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000310778.5_Silent_p.L491L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	416	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GAGACGTTCTGAGCTCCTCAG	0.567000													4	12					0	0	0.00116845	0	0
ZNF569	148266	broad.mit.edu	37	19	37903795	37903795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:37903795G>A	ENST00000316950.6	-	6	2322	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	ZNF569_ENST00000392150.2_Nonsense_Mutation_p.Q430*|ZNF569_ENST00000392149.2_Nonsense_Mutation_p.Q589*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGTTCTTTGAGAGAAGGCT	0.418000													32	72					0	0	0.000339439	0	0
HSPA1A	3303	broad.mit.edu	37	6	31785219	31785219	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:31785219C>T	ENST00000375651.5	+	1	1929	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	HSPA1A_ENST00000608703.1_Silent_p.I397I|HSPA1A_ENST00000458062.2_Silent_p.I471I	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	562					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						AGGGCAAGATCAGCGAGGCGG	0.587000													53	64					0	0	0.000781405	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753924	113753924	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:113753924C>T	ENST00000295878.3	-	6	812	c.666G>A	c.(664-666)tcG>tcA	p.S222S	KIAA1407_ENST00000545063.1_Silent_p.S53S	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	222										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CCAAGAAGGCCGATTTTTTCA	0.423000													26	69					0	0	0.000586117	0	0
FGA	2243	broad.mit.edu	37	4	155506820	155506820	+	Silent	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:155506820C>G	ENST00000302053.3	-	5	1839	c.1761G>C	c.(1759-1761)acG>acC	p.T587T	FGA_ENST00000403106.3_Silent_p.T587T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	587					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T587T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTTGTAACTCGTGCTACTAG	0.433000													27	49					0	0	0.000878237	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333000	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			16	42					0	0	0.000422831	0	0
TOB2	10766	broad.mit.edu	37	22	41833080	41833080	+	Silent	SNP	C	C	T	rs61756254		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:41833080C>T	ENST00000327492.3	-	2	976	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	90					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCAGACACTCAGCTCCTCAG	0.597000													40	88					0	0	0.000589545	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140787909	140787909	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140787909T>A	ENST00000520790.1	+	1	140	c.140T>A	c.(139-141)gTg>gAg	p.V47E	PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGGTGGTGGGGAACCTC	0.612000													20	55					0	0	0.00121646	0	0
CDKN2B	1030	broad.mit.edu	37	9	22008871	22008871	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:22008871C>G	ENST00000276925.6	-	1	491	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B_ENST00000380142.4_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B_ENST00000539462.1_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000584351.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	28					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGCACCTTCTCCACTAGTCCC	0.716000											OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	16					0	0	0.000274275	0	0
PAPOLG	64895	broad.mit.edu	37	2	60996024	60996024	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:60996024G>A	ENST00000238714.3	+	5	686	c.437G>A	c.(436-438)aGa>aAa	p.R146K		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	146					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGAAACTTAAGAGTAAGTATC	0.284000													12	15					0	0	0.00136819	0	0
INTS4	92105	broad.mit.edu	37	11	77605369	77605369	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:77605369T>G	ENST00000534064.1	-	19	2289	c.2255A>C	c.(2254-2256)gAa>gCa	p.E752A	AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.E127A|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	752					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TAAAAATTTTTCACACATCCC	0.353000													19	25					0	0	0.000958276	0	0
NUMBL	9253	broad.mit.edu	37	19	41188699	41188699	+	Silent	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:41188699T>C	ENST00000252891.4	-	5	500	c.333A>G	c.(331-333)cgA>cgG	p.R111R	NUMBL_ENST00000540131.1_Silent_p.R70R|NUMBL_ENST00000598779.1_Silent_p.R70R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	111	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)			TCACGGACTTTCGGCCCATCT	0.657000													15	55					0	0	0.000308642	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209189658	209189658	+	Silent	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:209189658A>T	ENST00000264380.4	+	19	2513	c.2355A>T	c.(2353-2355)cgA>cgT	p.R785R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	785					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GAATCAGTCGAATGACCCAAG	0.343000													25	58					0	0	0.00106085	0	0
FCER1A	2205	broad.mit.edu	37	1	159275915	159275915	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:159275915G>A	ENST00000368115.1	+	5	568	c.469G>A	c.(469-471)Gag>Aag	p.E157K	FCER1A_ENST00000368114.1_Missense_Mutation_p.E124K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	157	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTACTGGTATGAGAACCACAA	0.502000													8	39					0	0	0.000274275	0	0
MCMDC2	157777	broad.mit.edu	37	8	67786681	67786681	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr8:67786681T>C	ENST00000422365.2	+	3	386	c.215T>C	c.(214-216)gTc>gCc	p.V72A	MCMDC2_ENST00000492775.1_Missense_Mutation_p.V72A|MCMDC2_ENST00000396592.3_Missense_Mutation_p.V72A|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V72A|MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000541540.1_Intron	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	72					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GCTGCTGAAGTCTTTCAATCA	0.303000													28	61					0	0	0.00178596	0	0
BANP	54971	broad.mit.edu	37	16	88098939	88098939	+	Splice_Site	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88098939G>T	ENST00000393207.1	+	12	1565		c.e12+1		BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000355022.4_Intron|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000479780.2_Intron|BANP_ENST00000538234.1_Intron|BANP_ENST00000393208.2_Splice_Site	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		cagtggccaggtgagtccttt	0.582000													15	35					2.23348e-06	1.47265e-05	0.000422831	1	0
C11orf53	341032	broad.mit.edu	37	11	111156561	111156561	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:111156561C>T	ENST00000280325.4	+	4	640	c.493C>T	c.(493-495)Cat>Tat	p.H165Y		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	165										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ATACTCGCTGCATGCTCTGGA	0.617000													33	66					0	0	0.000409698	0	0
NUAK2	81788	broad.mit.edu	37	1	205273537	205273537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:205273537G>A	ENST00000367157.3	-	7	1054	c.928C>T	c.(928-930)Cga>Tga	p.R310*		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	310					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCTCCCACTCGGGTGGCGTAG	0.692000													5	18					0	0	0.000602214	0	0
MAST3	23031	broad.mit.edu	37	19	18245741	18245741	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:18245741G>A	ENST00000262811.6	+	16	1732	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGTGGGCTGCGTGCCTTTCTT	0.617000													45	91					0	0	0.000781405	0	0
NCOR1	9611	broad.mit.edu	37	17	16029478	16029478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:16029478C>A	ENST00000268712.3	-	15	1809	c.1552G>T	c.(1552-1554)Gaa>Taa	p.E518*	NCOR1_ENST00000395848.1_Nonsense_Mutation_p.E409*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.E518*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	518					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			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)		ttatcctcttctttttcttct	0.318000													19	28					6.49762e-13	4.58223e-12	0.00074312	1	0
ANKRD30B	374860	broad.mit.edu	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	rs76927023	byFrequency	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284000													7	29					0	0	0.000673444	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48609779	48609779	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:48609779C>T	ENST00000354276.3	-	2	335	c.8G>A	c.(7-9)aGc>aAc	p.S3N	PLA2G4C_ENST00000599111.1_Splice_Site_p.K23K|PLA2G4C_ENST00000413144.2_Splice_Site_p.S3N|PLA2G4C_ENST00000599921.1_Splice_Site_p.S3N	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	3	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGGACTTACCTTCCCATGGT	0.502000													38	82					0	0	0.00170553	0	0
ERCC2	2068	broad.mit.edu	37	19	45867337	45867337	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:45867337G>A	ENST00000391945.4	-	10	933	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000485403.2_Missense_Mutation_p.R262W|ERCC2_ENST00000391944.3_Missense_Mutation_p.R208W|ERCC2_ENST00000391940.4_Missense_Mutation_p.R262W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	286					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCAGACGCCGGTACTCGTCC	0.701000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	16					0	0	0.000274275	0	0
SLC6A14	11254	broad.mit.edu	37	X	115584268	115584268	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:115584268C>T	ENST00000371900.4	+	9	1334	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	416					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTTTTCATGCTTTTAACTTT	0.378000													26	11					0	0	0.000720815	0	0
DBN1	1627	broad.mit.edu	37	5	176885084	176885084	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:176885084T>C	ENST00000292385.5	-	13	2366	c.1757A>G	c.(1756-1758)gAg>gGg	p.E586G	DBN1_ENST00000512501.1_Missense_Mutation_p.E316G|DBN1_ENST00000309007.5_Missense_Mutation_p.E584G|DBN1_ENST00000393563.4_Missense_Mutation_p.E316G|DBN1_ENST00000393565.1_Missense_Mutation_p.E630G	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	584					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTGGTCTCGCCATTGGT	0.682000													31	88					0	0	0.000339439	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:102292820G>C	ENST00000561463.1	+	0	866																		p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000													5	24					0	0	0.000157383	0	0
COL5A3	50509	broad.mit.edu	37	19	10116237	10116237	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:10116237G>A	ENST00000264828.3	-	4	676	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	197	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCCTACCTCGAAAGTCTTTT	0.532000													11	96					0	0	0.00185496	0	0
MTHFD1	4522	broad.mit.edu	37	14	64921557	64921557	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:64921557C>T	ENST00000545908.1	+	26	3079	c.2850C>T	c.(2848-2850)agC>agT	p.S950S	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Silent_p.S894S			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	894					folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TCCGCGCCAGCGTTGGGGCTG	0.532000													37	93					0	0	0.00170553	0	0
HACE1	57531	broad.mit.edu	37	6	105225170	105225170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:105225170C>T	ENST00000262903.4	-	15	1865	c.1589G>A	c.(1588-1590)tGg>tAg	p.W530*	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	530					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATAGAACCATTCACAGCG	0.373000													48	99					0	0	0.000781405	0	0
BOC	91653	broad.mit.edu	37	3	112998756	112998756	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:112998756G>A	ENST00000495514.1	+	13	2810	c.2106G>A	c.(2104-2106)tcG>tcA	p.S702S	BOC_ENST00000273395.4_Silent_p.S703S|BOC_ENST00000355385.3_Silent_p.S702S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	702					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACGTGGTGTCGGGCTACAGCG	0.607000													46	81					0	0	0.000589545	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526171	68526171	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:68526171G>A	ENST00000433211.2	-	9	1306	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R378C	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATAGCCTTGCGGAGCTGAGAA	0.383000													23	43					0	0	0.000375601	0	0
ASB4	51666	broad.mit.edu	37	7	95157438	95157438	+	Silent	SNP	C	C	T	rs142833028		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:95157438C>T	ENST00000325885.5	+	3	872	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ASB4_ENST00000428113.1_Silent_p.L267L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	267					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCACGTGCTCATGCACATGA	0.562000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	42					0	0	0.00152264	0	0
EFNB1	1947	broad.mit.edu	37	X	68060145	68060145	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:68060145C>T	ENST00000204961.4	+	5	1469	c.689C>T	c.(688-690)cCt>cTt	p.P230L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	230					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCGGGGACCCTGATGGCTTC	0.582000													6	31					0	0	8.12818e-05	0	0
SNX6	58533	broad.mit.edu	37	14	35036931	35036931	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:35036931A>T	ENST00000396526.3	-	12	1276	c.780T>A	c.(778-780)aaT>aaA	p.N260K	SNX6_ENST00000362031.4_Missense_Mutation_p.N388K|SNX6_ENST00000396534.3_Missense_Mutation_p.N260K|SNX6_ENST00000355110.5_Missense_Mutation_p.N264K			Q9UNH7	SNX6_HUMAN	sorting nexin 6	376					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GTTCCACTAAATTTTTTCTGA	0.269000													21	46					0	0	0.000295444	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445105	4445105	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:4445105C>A	ENST00000254718.4	-	23	3475	c.3169G>T	c.(3169-3171)Ggc>Tgc	p.G1057C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1057C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1057					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCTGGCCCATCAGCTGC	0.627000													30	96					1.99505e-19	1.43185e-18	0.000409698	1	0
SSR3	6747	broad.mit.edu	37	3	156266662	156266662	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:156266662T>C	ENST00000467789.1	-	3	450	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E	SSR3_ENST00000476217.1_Intron|SSR3_ENST00000265044.2_Intron|SSR3_ENST00000478842.1_Intron|SSR3_ENST00000463503.1_Intron|SSR3_ENST00000496050.1_Intron			Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	120					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACCCCCTTTTATGATGGCCA	0.333000													19	29					0	0	0.00074312	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032407	9032407	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:9032407C>T	ENST00000383836.3	-	21	3102	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	SRGAP3_ENST00000360413.3_Missense_Mutation_p.C868Y	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	892					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTGCTGGGGCAGGCAGCAGC	0.697000			T	RAF1	pilocytic astrocytoma								12	18					0	0	0.00136819	0	0
HLA-F	3134	broad.mit.edu	37	6	29694776	29694776	+	Silent	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:29694776C>A	ENST00000440587.2	+	6	1125	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	HLA-F_ENST00000259951.7_Silent_p.R385R|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTTGGGCCGCCGGAAGGTGGG	0.512000													21	244					1.50039e-11	1.04898e-10	0.00188189	1	0
DLGAP4	22839	broad.mit.edu	37	20	35064675	35064675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:35064675C>A	ENST00000373913.3	+	4	1643	c.1163C>A	c.(1162-1164)tCa>tAa	p.S388*	DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.S388*|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.S388*|DLGAP4_ENST00000373907.2_Nonsense_Mutation_p.S388*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	388					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAAGCCCTCACCCAAGACC	0.711000													14	29					1.3612e-06	9.04865e-06	0.000308642	1	0
SPTBN2	6712	broad.mit.edu	37	11	66468734	66468734	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:66468734G>T	ENST00000533211.1	-	17	3167	c.2836C>A	c.(2836-2838)Ctg>Atg	p.L946M	SPTBN2_ENST00000309996.2_Missense_Mutation_p.L946M|SPTBN2_ENST00000529997.1_Missense_Mutation_p.L946M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	946					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGTCTGCCAGACGCCGAAAC	0.582000													19	43					5.35267e-07	3.58761e-06	0.000958276	1	0
MOGAT2	80168	broad.mit.edu	37	11	75438555	75438555	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:75438555G>A	ENST00000526712.1	+	2	873	c.100G>A	c.(100-102)Gga>Aga	p.G34R	MOGAT2_ENST00000198801.5_Missense_Mutation_p.G116R			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	116					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCTGGCAGTCGGAGCCTTTGC	0.617000													16	176					0	0	0.000566183	0	0
ACYP2	98	broad.mit.edu	37	2	54531938	54531938	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:54531938A>G	ENST00000394666.3	+	4	494	c.299A>G	c.(298-300)tAa>tGa	p.*100*	ACYP2_ENST00000607452.1_Silent_p.*173*|ACYP2_ENST00000303536.4_3'UTR|ACYP2_ENST00000606865.1_Silent_p.*84*	NM_138448.3	NP_612457.1	P14621	ACYP2_HUMAN	acylphosphatase 2, muscle type	0					phosphate metabolic process		acylphosphatase activity			lung(1)	1						ATTAGATACTAATAGAAGAGA	0.333000													14	16					0	0	0.00185496	0	0
CREB5	9586	broad.mit.edu	37	7	28843821	28843821	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:28843821G>A	ENST00000357727.2	+	8	1098	c.708G>A	c.(706-708)ttG>ttA	p.L236L	CREB5_ENST00000396300.2_Silent_p.L229L|CREB5_ENST00000396299.2_Silent_p.L203L|CREB5_ENST00000409603.1_Silent_p.L203L|CREB5_ENST00000396298.2_Silent_p.L97L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	236					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TTCAGAGGTTGAAGGCTGCAT	0.458000													33	43					0	0	0.00058488	0	0
ASPN	54829	broad.mit.edu	37	9	95219645	95219645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:95219645G>T	ENST00000375544.3	-	8	1311	c.1068C>A	c.(1066-1068)taC>taA	p.Y356*	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	356					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GCATTTCCCAGTATTTCACCG	0.378000													20	39					4.35082e-09	2.99026e-08	0.00152264	1	0
PCDHA7	56141	broad.mit.edu	37	5	140215822	140215822	+	Silent	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140215822G>C	ENST00000525929.1	+	1	1854	c.1854G>C	c.(1852-1854)gcG>gcC	p.A618A	PCDHA7_ENST00000378125.3_Silent_p.A618A|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCGGTGCGAGCATCCCGT	0.637000													41	92					0	0	0.000589545	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93149620	93149620	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:93149620G>A	ENST00000344636.3	+	7	694	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	170	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAGGAAAAGTGAAGTGGCTGG	0.383000													27	65					0	0	0.00106085	0	0
MAFB	9935	broad.mit.edu	37	20	39316580	39316580	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:39316580G>A	ENST00000373313.2	-	1	1300	c.911C>T	c.(910-912)tCc>tTc	p.S304F	MAFB_ENST00000396967.1_Missense_Mutation_p.S304F	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	304					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CCTGAAGCCGGAGTTGGCGAG	0.667000			T	IGH@	MM								19	105					0	0	0.000958276	0	0
DOCK4	9732	broad.mit.edu	37	7	111422965	111422965	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:111422965C>T	ENST00000428084.1	-	35	3812	c.3540G>A	c.(3538-3540)atG>atA	p.M1180I	DOCK4_ENST00000437633.1_Missense_Mutation_p.M1171I|DOCK4_ENST00000494651.2_Missense_Mutation_p.M54I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1171	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTACCTCTCCCATTTTCATGC	0.383000													41	108					0	0	0.000509022	0	0
STXBP1	6812	broad.mit.edu	37	9	130438119	130438119	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:130438119A>T	ENST00000373302.3	+	14	1286	c.1147A>T	c.(1147-1149)Atc>Ttc	p.I383F	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Missense_Mutation_p.I383F	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	383					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGGAGAGAAGATCAAGGACCC	0.488000													12	40					0	0	0.00185496	0	0
DNAH5	1767	broad.mit.edu	37	5	13814929	13814929	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:13814929C>T	ENST00000265104.4	-	43	7119	c.7015G>A	c.(7015-7017)Ggt>Agt	p.G2339S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2339	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTACTGGACCATCAAGAATT	0.383000									Kartagener syndrome				13	24					0	0	0.00185496	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661318	22661318	+	RNA	SNP	T	T	C	rs1044437	by1000genomes	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:22661318T>C	ENST00000426066.1	+	0	360					NR_027293.1																						TGTGTAGAACTTTGACCCCCG	0.488000													4	62					0	0	0.00024832	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215322	140215322	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140215322G>A	ENST00000525929.1	+	1	1354	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	PCDHA7_ENST00000378125.3_Missense_Mutation_p.A452T|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1												p.A452T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCCCCGGCGTT	0.677000													50	99					0	0	0.000781405	0	0
EDN3	1908	broad.mit.edu	37	20	57875894	57875894	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:57875894C>T	ENST00000311585.7	+	1	397	c.27C>T	c.(25-27)ttC>ttT	p.F9F	EDN3_ENST00000371028.2_Silent_p.F9F|EDN3_ENST00000371025.3_Silent_p.F9F|EDN3_ENST00000395654.3_Silent_p.F9F|EDN3_ENST00000337938.2_Silent_p.F9F	NM_207032.1	NP_996915.1	P14138	EDN3_HUMAN	endothelin 3	9					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GGCTCCTTTTCGGGCTCACAG	0.721000													12	22					0	0	0.000308642	0	0
BOLL	66037	broad.mit.edu	37	2	198621229	198621229	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:198621229A>T	ENST00000321801.7	-	9	1258	c.688T>A	c.(688-690)Tat>Aat	p.Y230N	BOLL_ENST00000282278.8_Missense_Mutation_p.Y109N|BOLL_ENST00000430004.1_Missense_Mutation_p.Y240N|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000433157.1_Missense_Mutation_p.Y218N|BOLL_ENST00000392296.4_Missense_Mutation_p.Y218N	NM_197970.2	NP_932074.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	218					cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACTGGTTGATAAATAACCTCA	0.373000													8	28					0	0	0.000274275	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791063	15791063	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:15791063C>T	ENST00000550308.1	+	4	733	c.353C>T	c.(352-354)gCa>gTa	p.A118V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A118V	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTGCCATTGCACCCAAGGAT	0.567000													67	174					0	0	0.000781405	0	0
CCBL1	883	broad.mit.edu	37	9	131600026	131600026	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:131600026C>T	ENST00000436267.2	-	8	936	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	CCBL1_ENST00000320665.6_Missense_Mutation_p.G119S|CCBL1_ENST00000302586.3_Missense_Mutation_p.G169S|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	169					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GTGAATTTGCCGGCCAGCTCC	0.622000													13	127					0	0	0.000308642	0	0
OR5R1	219479	broad.mit.edu	37	11	56185064	56185064	+	Silent	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:56185064G>T	ENST00000312253.1	-	1	644	c.645C>A	c.(643-645)ctC>ctA	p.L215L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGTAGGAGGTGAGGACAATGG	0.468000													22	40					2.70639e-06	1.77007e-05	0.000295444	1	0
ATE1	11101	broad.mit.edu	37	10	123687390	123687390	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:123687390G>A	ENST00000369043.3	-	1	161	c.75C>T	c.(73-75)taC>taT	p.Y25Y	ATE1_ENST00000224652.6_Silent_p.Y25Y|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000543447.1_5'UTR|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_5'UTR	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	25					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				CGTTCTTGCAGTAGCCGCAGC	0.711000													5	11					0	0	8.12818e-05	0	0
FAM134A	79137	broad.mit.edu	37	2	220047272	220047272	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:220047272C>T	ENST00000430297.2	+	9	1689	c.1553C>T	c.(1552-1554)cCt>cTt	p.P518L		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	518						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAAACCCCCTGATGCTCCA	0.607000													27	66					0	0	0.000720815	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124529	12124529	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:12124529A>C	ENST00000379388.2	+	4	4833	c.4501A>C	c.(4501-4503)Acc>Ccc	p.T1501P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1501					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCCAGCTCTACCAACGTTTT	0.438000													27	40					0	0	0.00106085	0	0
CNR2	1269	broad.mit.edu	37	1	24201432	24201432	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:24201432G>A	ENST00000536471.1	-	3	934	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	CNR2_ENST00000374472.4_Missense_Mutation_p.H226Y			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	226					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	CTGTCCTGGTGGCCAGACAAG	0.567000													15	31					0	0	0.000422831	0	0
FAM175B	23172	broad.mit.edu	37	10	126523363	126523363	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:126523363C>T	ENST00000298492.5	+	9	1116	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	357						BRISC complex	polyubiquitin binding			NS(1)	1						GTGGGGCTGACCTTCCTCCTC	0.493000													8	23					0	0	0.000157383	0	0
LONRF3	79836	broad.mit.edu	37	X	118109240	118109240	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:118109240C>G	ENST00000304778.7	+	1	660	c.497C>G	c.(496-498)tCa>tGa	p.S166*	LONRF3_ENST00000371628.3_Nonsense_Mutation_p.S166*	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	166					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGGTTTCTATCAGACCCCGTG	0.672000													21	6					0	0	0.00047179	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216573	26216573	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:26216573C>T	ENST00000244601.3	-	1	299	c.299G>A	c.(298-300)cGt>cAt	p.R100H		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	100					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AAGCAGCAGACGCACGGCGGT	0.567000													26	148					0	0	0.000878237	0	0
HLA-C	3107	broad.mit.edu	37	6	31239532	31239532	+	Missense_Mutation	SNP	C	C	T	rs41543115		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:31239532C>T	ENST00000383329.3	-	2	201	c.187G>A	c.(187-189)Gac>Aac	p.D63N	HLA-C_ENST00000376228.5_Missense_Mutation_p.D63N			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	63	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTCGCGGCGTCGCTGTCGAAC	0.687000													63	50					0	0	0.000781405	0	0
IQSEC2	23096	broad.mit.edu	37	X	53283763	53283763	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:53283763A>G	ENST00000396435.3	-	4	1550	c.1350T>C	c.(1348-1350)tcT>tcC	p.S450S	IQSEC2_ENST00000375368.5_Silent_p.S440S|IQSEC2_ENST00000375365.2_Silent_p.S245S	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	440					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AAAACTCTCCAGATGTGGTGA	0.572000													27	30					0	0	0.00127121	0	0
PPFIA2	8499	broad.mit.edu	37	12	81688723	81688723	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:81688723A>G	ENST00000550584.2	-	23	3111	c.2816T>C	c.(2815-2817)aTc>aCc	p.I939T	PPFIA2_ENST00000541570.2_Missense_Mutation_p.I506T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.I924T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.I865T|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.I924T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.I939T|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Missense_Mutation_p.I939T|PPFIA2_ENST00000550359.2_Missense_Mutation_p.I786T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.I939T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.I840T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.I156T	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	865										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTCTCTGGATCTCAGTGTC	0.488000													4	22					0	0	0.00024832	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077076	57077076	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:57077076C>G	ENST00000532437.1	-	5	3420	c.3109G>C	c.(3109-3111)Gat>Cat	p.D1037H	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1037H			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1037	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTGCCCCATCCGGCACGTGG	0.637000													45	106					0	0	0.000781405	0	0
POTEH	23784	broad.mit.edu	37	22	16287731	16287731	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:16287731G>T	ENST00000343518.6	-	1	206	c.155C>A	c.(154-156)tCt>tAt	p.S52Y		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	52										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAATCGTCGTG	0.612000													88	459					5.96743e-59	4.35998e-58	0.000781405	1	0
PLCH2	9651	broad.mit.edu	37	1	2409941	2409941	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:2409941G>A	ENST00000449969.1	+	2	231	c.70G>A	c.(70-72)Gag>Aag	p.E24K	PLCH2_ENST00000288766.5_Missense_Mutation_p.E6K|PLCH2_ENST00000378486.3_Missense_Mutation_p.E51K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E51K|PLCH2_ENST00000419816.2_Missense_Mutation_p.E51K			O75038	PLCH2_HUMAN	phospholipase C, eta 2	51	Necessary for plasma membrane localization (By similarity).				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGCCATGCAAGAGGGGATGCA	0.662000													14	46					0	0	0.000308642	0	0
TGS1	96764	broad.mit.edu	37	8	56711557	56711557	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr8:56711557G>A	ENST00000260129.5	+	8	2104	c.1627G>A	c.(1627-1629)Gct>Act	p.A543T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	543					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTGCACGACGCTTCCACAAG	0.388000													23	48					0	0	0.00047179	0	0
TMEM198	130612	broad.mit.edu	37	2	220412380	220412380	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:220412380G>A	ENST00000344458.2	+	4	904	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	TMEM198_ENST00000373883.3_Missense_Mutation_p.G107R|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	107	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTGCTCTGCGGGCTGGTGGC	0.687000													14	125					0	0	0.00185496	0	0
TMEM214	54867	broad.mit.edu	37	2	27259978	27259978	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:27259978G>T	ENST00000238788.9	+	8	1004	c.942G>T	c.(940-942)atG>atT	p.M314I	TMEM214_ENST00000404032.3_Missense_Mutation_p.M269I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	314						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTTCGGCATGATTGGCCCCA	0.567000													65	163					3.8128e-34	2.76088e-33	0.000781405	1	0
MUC16	94025	broad.mit.edu	37	19	9014673	9014673	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:9014673C>G	ENST00000397910.4	-	31	38505	c.38302G>C	c.(38302-38304)Gat>Cat	p.D12768H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12770	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CAGATGGCATCCACTCCAGTG	0.547000													20	28					0	0	0.001512	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292832	102292832	+	RNA	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:102292832G>C	ENST00000561463.1	+	0	878																											GAAGACACTCGTGGAGGCGTC	0.597000													4	20					0	0	0.00116845	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54674240	54674240	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:54674240G>A	ENST00000230640.5	+	17	2163	c.1909G>A	c.(1909-1911)Ggt>Agt	p.G637S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.G536S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	637					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCCAAATTGGGTAAAGAAAT	0.308000													23	69					0	0	0.000375601	0	0
PSTK	118672	broad.mit.edu	37	10	124740004	124740004	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:124740004C>T	ENST00000405485.1	+	1	75	c.9C>T	c.(7-9)acC>acT	p.T3T	PSTK_ENST00000368887.3_Silent_p.T3T			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	3							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GCATGAAGACCGCCGAGAACA	0.701000											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	13					0	0	0.000978159	0	0
CCDC102B	79839	broad.mit.edu	37	18	66678339	66678339	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr18:66678339G>A	ENST00000360242.5	+	7	1549	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	CCDC102B_ENST00000319445.6_Missense_Mutation_p.E478K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E478K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	478										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAAAGAAGATGAGGTACTACT	0.368000													6	33					0	0	0.00116845	0	0
FJX1	24147	broad.mit.edu	37	11	35640997	35640997	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:35640997C>T	ENST00000317811.4	+	1	1263	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	271						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCCGGGATGCCGGGGGTGAGC	0.677000													4	33					0	0	0.00024832	0	0
RC3H1	149041	broad.mit.edu	37	1	173907942	173907942	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:173907942G>C	ENST00000367696.2	-	20	3670	c.3319C>G	c.(3319-3321)Ctg>Gtg	p.L1107V	RC3H1_ENST00000367694.2_Missense_Mutation_p.L1099V|RC3H1_ENST00000258349.4_Missense_Mutation_p.L1107V			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1107					cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GACAGGTTCAGAGAGCTGGTC	0.443000													31	65					0	0	0.00178596	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88894996	88894996	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:88894996A>G	ENST00000303236.3	-	3	925	c.624T>C	c.(622-624)taT>taC	p.Y208Y	EIF2AK3_ENST00000419748.1_Silent_p.Y57Y	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	208					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						CCTTTCCACTATATGCACTGA	0.318000													16	37					0	0	0.000566183	0	0
MATN3	4148	broad.mit.edu	37	2	20202935	20202935	+	Silent	SNP	C	C	T	rs139419822	by1000genomes	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:20202935C>T	ENST00000407540.3	-	3	965	c.903G>A	c.(901-903)aaG>aaA	p.K301K	MATN3_ENST00000421259.2_Intron|AC079145.4_ENST00000416575.1_RNA	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	301	EGF-like 1.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACACGTTTTCTTGTCGGCAT	0.527000													20	45					0	0	0.000295444	0	0
KLHL8	57563	broad.mit.edu	37	4	88099702	88099702	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:88099702G>A	ENST00000273963.5	-	5	1364	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000425278.2_Silent_p.I158I|KLHL8_ENST00000512111.1_Silent_p.I341I|KLHL8_ENST00000498875.2_Silent_p.I265I	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	341										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTTTTGTTGATAGAATAGC	0.428000													8	64					0	0	0.000442599	0	0
GALNS	2588	broad.mit.edu	37	16	88893122	88893122	+	Missense_Mutation	SNP	C	C	T	rs150734270	byFrequency	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88893122C>T	ENST00000268695.5	-	10	1215	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	GALNS_ENST00000542788.1_Missense_Mutation_p.R301Q	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	376			R -> Q (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTCCATCAGCCGGCCCTGCAG	0.662000													21	20					0	0	0.000586117	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039054	242039054	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:242039054C>G	ENST00000391980.2	-	2	335	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.E93Q|MTERFD2_ENST00000407095.3_Missense_Mutation_p.E93Q|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	93										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCTCTCTAGCTCCAAG	0.507000													44	82					0	0	0.000781405	0	0
MAN2C1	4123	broad.mit.edu	37	15	75651976	75651976	+	Missense_Mutation	SNP	C	C	A	rs147452674		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:75651976C>A	ENST00000565683.1	-	16	1944	c.1933G>T	c.(1933-1935)Ggg>Tgg	p.G645W	MAN2C1_ENST00000267978.5_Missense_Mutation_p.G645W|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G546W|MAN2C1_ENST00000569482.1_Missense_Mutation_p.G645W	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	645					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGTGGGCCCCGCCCGGTTTG	0.647000													16	36					2.94398e-08	2.00636e-07	0.000958276	1	0
ZKSCAN7	55888	broad.mit.edu	37	3	44598778	44598778	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:44598778G>A	ENST00000273320.3	+	2	668	c.239G>A	c.(238-240)cGc>cAc	p.R80H	ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.R80H|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.R80H|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R80H	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		GAGCTCTGCCGCTGGTGGCTC	0.607000													14	38					0	0	0.00185496	0	0
NBAS	51594	broad.mit.edu	37	2	15676631	15676631	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:15676631C>G	ENST00000281513.5	-	8	583	c.558G>C	c.(556-558)ttG>ttC	p.L186F	NBAS_ENST00000441750.1_Missense_Mutation_p.L186F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	186										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTAAAAATATCAACCCAGCAA	0.348000													64	179					0	0	0.000781405	0	0
HIF1AN	55662	broad.mit.edu	37	10	102296389	102296389	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:102296389G>A	ENST00000299163.6	+	2	499	c.399G>A	c.(397-399)caG>caA	p.Q133Q	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGAAACTGCAGGATATACAGC	0.398000													39	119					0	0	0.00195071	0	0
ARID1A	8289	broad.mit.edu	37	1	27102153	27102153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:27102153delC	ENST00000324856.7	+	19	5450	c.5079delC	c.(5077-5079)atcfs	p.I1693fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.I21fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.I1476fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.I1310fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCATCAACATCCTGCTGTATG	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								27	59	---	---	---	---					
QPCT	25797	broad.mit.edu	37	2	37596833	37596834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:37596833_37596834insT	ENST00000338415.3	+	5	887_888	c.729_730insT	c.(730-732)ttgfs	p.L244fs	QPCT_ENST00000537448.1_Frame_Shift_Ins_p.L195fs	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	244					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTCAGGATTTATTGGTCTTATT	0.366													31	70	---	---	---	---					
LOC101927841	101927841	broad.mit.edu	37	7	22896087	22896089	+	RNA	DEL	AAA	AAA	-	rs58988088		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:22896087_22896089delAAA	ENST00000415611.3	+	0	103																											ACCACTCATTAAAAAACAAAATT	0.345													3	6	---	---	---	---					
TLE4	7091	broad.mit.edu	37	9	82267521	82267521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:82267521delC	ENST00000376520.4	+	7	1232	c.404delC	c.(403-405)gccfs	p.A135fs	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000455913.1_3'UTR|TLE4_ENST00000376552.2_Frame_Shift_Del_p.A135fs|TLE4_ENST00000265284.6_Frame_Shift_Del_p.A110fs|TLE4_ENST00000376544.3_Frame_Shift_Del_p.A135fs|TLE4_ENST00000376537.4_Frame_Shift_Del_p.A135fs	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAACTCCAGGCCCAGCATTTA	0.532													70	174	---	---	---	---					
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													3	3	---	---	---	---					
CNTNAP4	85445	broad.mit.edu	37	16	76481915	76481915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:76481915delA	ENST00000307431.8	+	6	927	c.542delA	c.(541-543)gaafs	p.E181fs	CNTNAP4_ENST00000476707.1_Frame_Shift_Del_p.E185fs|CNTNAP4_ENST00000478060.1_Frame_Shift_Del_p.E157fs|CNTNAP4_ENST00000377504.4_Frame_Shift_Del_p.E181fs|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	182					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTAGGATCAGAAGTGGTTGAT	0.308													21	69	---	---	---	---					
PTRF	284119	broad.mit.edu	37	17	40556948	40556949	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:40556948_40556949delGC	ENST00000357037.5	-	2	1348_1349	c.929_930delGC	c.(928-930)cgcfs	p.R310fs		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	310					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGGTCTTGGAGCGCGCGTACAC	0.649													26	94	---	---	---	---